Department of Medical Genetics

1) R V, Phadke S R (1990-1991) Spinal dysraphism in achondroplasia. Pediatr Phadke Neurosurg 16: 32-34.

2) Sharma A K, Phadke S R ( 1991) Porencephaly : A possible complication of chorionic villus sampling. Indian Pediatr 28: 1061-1063.

3) Naveed M, Phadke S R, Agarwal S S ( 1992) Sociocultural problems in Genetic counseling. J Med Genet 29: 140 ( letter).

4) Sharma A K, Phadke S R, Chandra K, Upreti M, Khan E M, Naveed M, Agarwal S S (1992) Overlap between Majewski and Hydrolethalus syndromes : A report of two cases. Am J Med Genet 43: 949-953.*

5) Phadke S R, Sharma A K, Agarwal S S (1993) A report of Freeman Sheldon syndrome with bilateral simian crease and malpositioned second toes. Indian Pediatr 30: 91-93.

6) Sharma A K, Phadke S R, Agarwal S S (1993) Beemer syndrome. Am J Med Genet 46: 345.(letter)*#

7) Phadke S R, Sharma A K, Agarwal S S (1993) A new syndrome of multiple joint dislocations with metaphyseal dysplasia, natal tooth and lymphoedema. Clinical Dysmorphology 2: 264-268.*

8) Sharma A K, Phadke S R (1993) CVS and porencephaly. Prenatal diagnosis. 13: 1077 $.

9) Sharma A K, Halder A, Phadke S R, Agarwal S S (1994) Preaxial brachydactyly with abduction of thumbs and hallux varus – A distinct entity. Am J Med Genet 49: 274-277.*@

10) Phadke S R, Sharma A K, Halder A, Pandey R, Bhatia V L, Agarwal S S, (1994) GAPO syndrome in a child without dermal hyaline deposits. Am J Med Genet 51: 191-193.*

11) Sharma A K, Phadke S R (1994) Midline malformation syndrome. Am J Med Genet 50: 304.

12) Sharma A K, Phadke S R (1994) Another case of spondylocostal dysplasia and severe anomalies: A diagnostic counseling dilemma. Am J Med Genet 50: 383-384.*

13) Sharma A K, Phadke S R, Agarwal S S (1994) The clinical value of a limited fetal autopsy. Australian and New Zealand J of Obstet Gynaecol 34: 1-3 $.

14) Phadke S R, Sharma A K, Agarwal S S (1994) Anophthalmia with cleft palate and micrognathia: a new syndrome. J Med Genet 31: 960-961.*

15) Agarwal S S, Phadke S R, Phadke R V, Das S K, Singh G K, Sharma J P, Teotia S P S, Saxena B N (1994) Handigodu disease : A radiological study. A new variety of spondyloepi ( meta ) physeal dysplasia of the autosomal dominant type. Skeletal Radiol. 23: 611-619.

16) Halder A, Sharma A K, Phadke S R, Jain A, Agarwal S S (1994) OEIS complex with craniofacial anomalies defect of blastogenesis ? Am J Med Genet 53: 21-23.*

17) Sharma A K, Jain A, Phadke S R, Srivastava S (1994) Prenatal diagnosis of Robert syndrome. Indian Pediatr. 31: 1261-1264.$

18) Sharma A K, Halder A, Phadke S R, Agarwal S S (1994) Marshall Smith syndrome

– A distinct entity. Indian Pediatr 31 (8) : 1098-1100.

19) Sharma A K, Phadke S R (1994) Jarcho Levine syndrome. A case report. Indian Pediatr. 31 (6) : 707-708.

20) Sharma A K, Halder A, Phadke S R (1994) Postmortem radiography of perinatal deaths: an aid to genetic counseling. Indian Pediatr 31(6): 702-706 $.

21) Dhanda S, Phadke S R, Agarwal S S (1996) Lessons from fibroblast growth factor receptor mutations in craniosynostosis syndromes. The J of Clin Genet and Tribal Research. 1(3) : 176-180.

22) Phadke S R, Pahi J, Phadke R V, Pradhan S, Agarwal S S (1997) Importance of etiologic diagnosis of hydrocephalus as illustrated by a case of Walker Warburg syndrome. Indian Pediatr 34(4): 1037-1038.

23) Gulati R, Phadke S R, Agarwal S S (1997) Associated malformations in the family of a patient with Meckel syndrome: Heterozygote expression? J Med Genet 34(11): 937-938.*@

24) Dhanda S, Phadke S R, Agarwal S S (1997) Acromesomelic dwarfism: Report of a family with two affected siblings. Indian Pediatr 34(4): 1127-1130.

25) Agarwal S S, Phadke S R, Fredlund V, Viljoen D, Beighton P (1997) Mselini and Handigodu Familial Osteoarthropathies: syndromic identity. Am J Med Genet 72: 435-439.*

26) Phadke S R, Gulati R, Agarwal S S (1998) Further delineation of a new ( Van Den Ende- Gupta) syndrome of blepherophimosis, contractual arachnodactyly and characteristic face. Am J Med Genet 77: 16-18 *#@

27) Pahi J, Phadke S R, Halder A, Gupta A, Pandey R, Agarwal S S (1998) Does autopsy of antenatally diagnosed malformed fetus aid in genetic counseling. National Med J India 11: 169-170 $

28) Phadke S R, Gupta A, Pahi J, Pandey A, Gautam P, Agarwal S S, (1999) Malignant recessive osteopetrosis. Indian Pediatr 36: 69-74.

29) Singh K, Phadke S R, Agarwal S S (1999) Mandibuloacral dysplasia: Indian patient with severe bony changes. J Association Physn India 47: 833-834.

30) Phadke S R, Gautam P (1999) Complex camptopolydactyly : an unusual hand malformation. Am J Med Genet 83: 191-192.*@

31) Pradhan M, Phadke S R, Jain S, Agarwal S S (1999) Pachygyria / Hypogenitalism: A monogenic syndrome. Am J Med Genet 87: 254-257.*#

32) Phadke S R, Pahi J, Pandey A, Agarwal S S (1999) Oral- facial – digital syndrome with acromelic short stature : a new variant overlap with Ellis Van Creveld syndrome. Clinical Dysmorphology 8:185-188*#.

33) Phadke S R, Pandey A (1999) Genetic counseling in pediatric practice. Indian Pediatr 36: 789-797.

34) Phadke S R (1999) Iniencephaly in a live born and not Klippel Feil syndrome. Indian Pediatr 36: 1279.

35) Saxena A, Phadke S R, Agarwal S S (2000) Linear catch-up growth. Indian J Pediatr 67(3): 225-230.

36) Gautam P, Phadke S R (2000) Fetal brain disruption sequence. Indian Pediatr 37: 662- 664#.

37) ICMR Collaborating center & central technical co-ordinating unit, ICMR, New Delhi(2000) Multicentric study of efficacy of periconceptional folic acid containing vitamin supplimentation in prevention of neural tube defects from India. Indian J Med Res 112: 206-211

38) Phadke S R , Halder A(2000) Fluorescence In Situ Hybridization: A novel method to study chromosomes and genes. Perinatology 2(4): 203-210

39) Gupta A, Phadke S R(2001) Bowen Conradi syndrome in an Indian infant: A first nonHutterite case. (Letter) Clinical Dysmorphology 10:1-2*@

40) Phadke S R, Agarwal S S (2001) Adverse effects of genetic counseling on women carriers of disease : The Indian perspective. National Med J of India 14(1): 47-49

41) Choudhury N, Phadke S R (2001) Transfusion transmitted diseases. Indian J Pediatrics 68:957-958

42) Puri R D, Phadke S R (2001) Molecular diagnosis of monogenic disorders. I of Internal Medicine of India 4(4):174- 180

43) Chaturvedi L S, Shrivastav S, Mukherji M, Mittal R D, Phadke S R, Pradhan S, Mittal B (2001) Carrier detection of nondeletional Duchenne muscular dystrophy / Becker muscular dystrophy families using polymorphic dinucleotide repeat (CA) repeat loci of dystrophin gene. IJMR14(1):47-49 $

44) Puri R D, Phadke S R (2002) Further delineation of mandibulofacial dysostosis: Toriello type. Clinical Dysmorphology 11(2)91-93*@.

45) Chaddha V, Phadke S R (2002) Aarskog syndrome . Indian Pediatr 39:400

46) Phadke S R (2002) Down syndrome: A common genetic problem and the challenges ahead. Asian J of Pediatric Practice 5(4):10-14

47) Agarwal SS, Phadke S R, Agrawal S ( 2002) Primary prevention of Thalassemia major. Asian J of Pediatric Practice 5(4):23-29

48) Panigrahi I, Phadke S R, Agrawal A, Gambhir S, Agarwal S S (2002) Clinical profile of hereditary spherocytosis in North India .JAPI 50:1360-1367

49) Panigrahi I, Kesari A, Phadke S R, Mittal B (2002) Clinical and molecular diagnosis of spinal muscular atrophy. Neurology India 50:117-122

50) Panigrahi I, Phadke S R, Agarwal S S (2002) Mental retardation, ptosis and polydactyly: A new autosomal recessive syndrome? Clinical Dysmorphology 11:289-292*#

51) Saxena A, Phadke S R (2002) Thalassemia control by carrier screening: The Indian scenario. Current Science 83(3):291-295

52) Saxena A, Phadke SR. Feasibility of thalassaemia control by extended family screening in Indian context. J Health Popul Nutr. 2002 Mar;20(1):31-5.

53) Pandey G S, Phadke S R, Mittal B (2002) Carrier analysis and prenatal diagnosis of hemophilia in North India. International J of Molecular Medicine 10:

54) Pandey U B, Phadke S R, Mittal B (2002) Molecular screening of FRAXA and FRAXE in Indian patients with unexplained mental retardation. Genetic Testing 6(4): 335-339

55) Phadke S R, Thakur S (2002) Prenatal diagnosis of iniencephaly and alobar holoprosencephaly with trisomy 13 mosaicism: a case report. Prenatal Diagnosis 22: 1240-1241 $.

56) Phadke S R, Agarwal S, Agarwal S S (2002) Medical genetics education in India (letter) . National Medical J of India 15(6): 363.

57) Phadke S R, Agarwal S (2002) Prenatal screening for Down syndrome. Perinatology 4(4):198-206$

58) Phadke S R (2003) Prevention of genetic disorders. World Health Review. April : 18-23.

59) Phadke S R, Agarwal S (2003) The phenotype score to grade the severity of Thalassemia Intermedia. Indian J Pediatr 70 (6): 477-481.

60) Gupta A, Phadke S R, Thakur S (2003) Diagnosing Acrocallosal syndrome. Indian J Pediatr 70(2): 177-179.

61) Phadke S R, Puri R D, Agarwal S, Thakur S (2003) Counseling for prenatally detected malformation of uncertain prognosis. Perinatology 5(3): 132-137$.

62) Agarwal S, Thakur S, Agarwal S, Khan F, Phadke S R, Pradhan M, Tripathi M (2003) Factor V Leiden mutation (C169S1A) in women with recurrent spontaneous abortion from North India. Obs & Gynec VIII (II): 603-607.

63) Chaddha V, Agarwal S, Phadke S R, Mittal B (2003) Low level mosaicism in atypical Prader Willi syndrome: Detection using fluorescent in situ hybridization. Indian Pediatr 40:166-168.

64) Phadke SR, Agrawal S, Puri Dua R (2003) Recurrence of complex camptopolydactyly in a sibling suggestive of autosomal recessive inheritance. Am J Med Genet 116A:94-96*@$

65) Singh H, Pradhan M, Singh R L, Phadke S, Naik S R, Aggarwal R, Naik S (2003) High frequency of hepatitis B virus infection in patients with beta thalassemia receiving multiple transfusions. Vox Sanguinis 84: 292-299.

66) Pandey G S, Panigrahi I, Phadke S R, Mittal B (2003) Knowledge and attitude towards hemophilia: The family side and role of hemophilia societies. Community Genetics 6(2):120-122

67) Mukherjee M, Phadke S R, Mittal B (2003) Connexin 26 and autosomal recessive nonsyndromic hearing loss. Indian J Human Genet 9(2): 40-50.

68) Puri R D, Phadke S R (2003) Catel-Manzke syndrome without cleft palate – a case report. Clinical Dysmorphology. 12(4): 279-281@.*

69) Phadke S R (2004) Genetic counseling. Indian J Pediatr 71:151-158.

70) Pandey U B, Phadke S R, Mittal B (2004) Molecular diagnosis and genetic counseling for fragile X mental retardation. Neurology India 52 : 36-42.

71) Thakur S, Paul L, Phadke S R (2004) Lethal arthrogryposis with icthiosis : overlap with Neu Laxova syndrome, restrictive dermopathy and Harlequin fetus. Clinical Dysmorphology 13 (2): 117-119*$.

72) Pandey A, Phadke S R, Gupta N, Phadke R V (2004) Neuroimaging in mental retardation. Indian J Pediatr 71: 203-209.

73) Gupta N, Girisha K M, Phadke S R (2004) Prenatally diagnosed omphalocoele – what more to look for. Perinatology 6(2):87-95$.

74) Thakur S, Singh R, Pradhan M, Phadke SR (2004) Spectrum of holoprosencephaly. Indian J Pediatr 71:593- 597$

75) Phadke S R, Patil S J (2004) Partial trisomy 13 with features similar to ‘C’ syndrome. Indian Pedeatr 41:614-617

76) Phadke S R, Pandey A, Dua PurI R, Patil S J (2004) Genetic counseling: The impact in Indian milieu. Indian J of Pediatrics 71:1079-1082 $

77) Shreeram K, Kumar S, Baijal SS, Handique A, Agarwal SK, Phadke S R (2004) Endovascular management of a posterior tibial artery aneurism in Ehlers Danlos syndrome type VI. EJVES Extra (e- pub) 7(6): 74-75

78) Khan F, Phadke S , Nityanand S, Talwar S, Agrawal S (2004) Use of ApoB3’ hypervariable region in studying mixed chimerism and maternal contamination in North Indian populations. J of Clinical Forensic Medicine 11:183-188

79) Phadke SR (2004) Perinatal pathology: A prerequisite for genetic counseling. Asian J of Pediatric Practice 8(1):33-38

80) Mukherjee M, Pandey G S, Kesari A, Phadke S R, Mittal B (2004) Prenatal diagnosis of genetic disorders by molecular methods. Perinatology 6(5): 221- 230 $

81) Singh R, Phadke SR, Pradhan M. Dalal A (2004) Unexpected chromosomal abnormalities at prenatal diagnosis: A counseling dilemma. Perinatology 6(6): 305- 309 $

82) Gupta N, Pradhan M, Singh R, Phadke S R (2004) Prenatally diagnosed trisomy 6 mosaicism. Prenatal Diagnosis 24:841-844 $

83) Phadke S R (Feb2005) Fragile X syndrome. Orphanet Encyclopedia. http://ww.orpha.net/data/patho/GB/uk-Fragile-X.pdf

84) Kesari A, Misra U K, Kalita J, Mishra V N, Pradhan S, Patil S J, Phadke S R, Mittal B (2005) Study of survival motor neuron(SMN) and neuronal apoptosis inhibitory protein (NAIP) gene deletions in SMA patients. J of Neurology

85) Girisha K M, Phadke S R (2005) Anotia and facial palsy: Unusual features of cardiofacial syndrome. Indian J of Pediatrics 72:525 -526 *

86) Dalal A, Phadke S R (2005) Hemihyperplasia with Ehlers Danlos syndrome like skin changes. Clinical Dysmorphology

87) Kesari A, Rennert H, Leonard D G B, Phadke S R, Mittal B (2005) Prenatal diagnosed of spinal muscular atrophy: Indian experience. Prenatal Diagnoisis 25:641-644 $

88) Phadke S R, Thakur S, Sankar VH (2005) Utility of information brochure as a part of pretest counseling for Down syndrome screening: Indian scenario. Perinatology 7(4):178-182 $

89) Thakur S, Phadke S R (2005) familial breast cancer: Genetics and counseling. Indian J of Surgery 67(6):297-301

90) Patil SJ, Phadke S R (2006) Delleman Syndrome. Indian Pediatrics 43; 173-174

91) Dalal A, Phadke S R (2006) MTHFR polymorphism in neural tube defects. J OF Metabolism and Genetics. 1(2): 109-114

92) Sankar V H, Phadke S R (2006) Ring chromosome 13 in an infant with ambiguous genitalia. Indian Pediatrics 43:258-260

93) Phadke SR, Manisha (2006) Further delineation of acro-renal-mandibular syndrome. Clin Dysmorphology 15:119-120 *

94) Phadke SR, Girisha KM, Dalal A (2006) Handless footless fetus. Clin Dysmorphology 15:233-234 *

95) Sankar V H, Phadke S R (2006) Clinical utility of autopsy and comparison with prenatal ultrasound findings. J of Perinatology 26:224-229 $

96) Gupta N, Phadke S R (2006) Cutis Laxa Type II and Wrinkly Skin Syndrome:Distinct phenotypes. Pediatr Dermatol;23(3):225-30.

97) Julka S, Bhatia V, Singh U, Northam E, Dabadghao P, Phadke S, Wakhlu A, Warne GL (2006) Quality of life and gender role behavior in disorders of sexual differentiation in India. J of Pediatric Endocrinology & Metabolism 19:879-888

98) Phadke SR, Girisha KM (2006) Basal ganglia changes: A diagnostic clue to Sandoff disease. Indian Pediatrics 43:919-910

99) Gupta N, Goel H, Phadke SR. Unbalanced X; autosome translocation. Indian J Pediatr. 2006 Sep;73(9):840-2.

100) Patil S J, Phadke S R (2006) Urorectal septum malformation sequence: Ultrasound correlation with fetal examination. Indian J Pediatrics 73(4):287 -293 $

101) Girisha K M, Phadke S R, Khan F, Agrawal S (2006) S252W mutation in Indian patients with Apert syndrome. Indian pediatrics 43(80:733-735

102) Dalal AB, Phadke SR, Pradhan M, Sharda S. (2006) Hemihyperplasia syndromes. Indian J Pediatrics 73(3):609-615

103) Dalal A, Phadke S R (2006)Twin pregnancy with Roberts syndrome in one fetus and trisomy 18 in the other. J Clin Ultrasound. 2006 Mar-Apr; 34(3):146-9.

104) Phadke S R, Patil SJ (2006) Pericentric inversion giving rise to duplication and deletion of chromosome 13q22 qter in the offspring. Am J Med Genet 143(8):899-902 $

105) Ashwin B Dalal, Shubha R. Phadke.(2007) Morphometric analysis of face in dysmorphology. Comput Methods Programs Biomed. Feb;85(2):165-72

106) Phadke S R, Dua Puri Ratna, Phadke R V (2007) Severe Form of Congenital Cerebral and Cerebellar Atrophy : A Neurodegenerative Disorder of Fetal Onset. J of Clinical Ultrasound Jul-Aug;35(6):347-50.$

107) Shubha R Phadke, Girisha KM, Rajendra V Phadke (2007) A New Autosomal recessive disorder of bilateral frontotemporal pachygyria without microcephaly: Report of a case and review of literature. Neurology India 55(1):57-60

108) Phadke S R, Patil SJ, Niraj Kumari, Krishnani N. (2007) Spondylothoracic dysplasia: prenatal diagnosis and the problems of nosologic overlap. Am J Med Genet A. Apr 15;143(8):899-902. $

109) Phadke S R, Girisha K M (2007) Issues in counseling for Down syndrome: Indian scenario. Indian Pediatrics 44:131-133.

110) Phadke S R, Dalal A (2007) Short stature, ulnar deviation of hands with absent carpals and joint contractures: a new syndrome. Clin Dysmorphol 16(1):55-7.

111) Girisha K M, Mittal B, Phadke S R (2007) Prevention of common genetic neuromuscular disorders: Duchenne muscular dystrophy and spinal muscular atrophy. Pediatric Clinics of India. jan;22-38

112) Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, Hennekam RC, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH, Signorini S, Stromme P, Stuart B, Sztriha L, Viskochil DH, Yuksel A, Dallapiccola B; The International JSRD Study Group, Valente EM, Gleeson JG. CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome-Related Disorders. Am J Hum Genet. 2007 Jul;81(1):104-13.

113) Sharada S , Phadke S R (2007) Uptake of invasive prenatal diagnostic tests in women after detection of soft markers for chromosomal abnormality on ultrasonographic evaluation. J Perinatol. 2007 Jul 5;

114) Phadke SR, Ramirez M, Difeo A, Martignetti JA, Girisha KM.(2007) Torg- Winchester syndrome: lack of efficacy of pamidronate therapy. Clin Dysmorphol. 16(2):95-100.

115) Malik S, Girisha KM, Wajid M, Roy AK, Phadke SR, Lerche D, Richardt T, Haque S, Ahmad W, Koch MC, Grzeschik K. Identical HOXD 13 polyalanine expansion mutations in syndactyly type II families of Pakistani and Indian origin. BMC Med Genet 8(1):78.

116) Girisha KM, Cormier-Daire V, Heuertz S, Phadke RV, Phadke SR. (2008) Novel mutation and atlantoaxial dislocation in two siblings from India with Dyggve- Melchior-Clausen syndrome. Eur J Med Genet 51(3):251-6.

117) Phadke S R (2007) Hemihyperplasia, Isolated. In Atlas of Genetics and Cytogenetics in Oncology and Haematology.

118) Phadke SR. (2008) Challenges in identifying genetic risk factors for common multifactorial disorders. Indian J Med Res. 2008 Feb;127(2):106-9.

119) Mandal K, Phadke SR, Kalita J.(2008) Congenital swan neck deformity of fingers with syndactyly. Clin Dysmorphol. 2008 Apr;17(2):109-11.

120) Sahu R, Boddula R, Sharma P, Bhatia V, Greaves R, Rao S, Desai M,Wakhlu A, Phadke S, Shukla M, Dabadghao P (2008) Genetic analysis of SRD5A2 gene in Indian patients with 5 alpha reductase deficiency. Journal of Pediatric Endocrinology and Metabolism

121) Phadke S R, Sharda S (2008) A report of a patient with interstitial deletion of 15q22: further delineation of a new micro deletion syndrome. Am J Med Genet A. 146A(15):1999-2000

122) Goel H, Girisha KM, Phadke SR.(2008) Long-term efficacy of oral deferiprone in management of iron overload in beta thalassemia major. Hematology.13(2):77-82.

123) Kumari N, Pradhan M, Shankar VH, Krishnani N, Phadke SR. (2008) Post-mortem examination of prenatally diagnosed fetal renal malformation J Perinatol. 2008 Jul 3.

124) Gupta A, Phadke S R (2008) Chromosomal anomalies in couples with recurrent spontaneous abortions: Prevalence and counseling. Perinatology 10(3): 69-74

125) Ranganath P, Agrawal M, Phadke SR (2008) Second trimester screening for fetal aneuploidy through triple marker test: the two year experience of genetics unit at a referral institute. Perinatology 10(6): 149-154

126) RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L, Phadke S; International JSRD Study Group, Dallapiccola B, Gleeson JG, Valente EM. Clin Genet. 2008 Aug;74(2):164-70.

127) Mandal K, Boggula V R, Borkar M, Agarwal S, Phadke S R (2009) Use of multiplex ligation probe amplification (MLPA) in screening of subtelomeric regions in children with idiopathic mental retardation. Indian J Pediatrics 76(10):1027-31. Epub 2009 Nov 12.

128) Phadke S R, Mandal K, Girisha K M (2009) Fabry disease: A treatable lysosomal storage disorder. National Med J of India 22(1): 20-22

129) Expanding CEP290 mutational spectrum in ciliopathies. Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, et. al., Phadke SR, et al. Am J Med Genet A. 2009 Oct;149A(10):2173-80.

130) Patil SJ, Banerjee M, Phadke SR, Mittal B (2009) Mutation analysis in Indian children with achondroplasia - utility of molecular diagnosis. Indian J Pediatr. 76(2):147-9. Epub 2009 Mar 28..

131) Phadke S R, Gupta N, Girish K M, Kabra M, Maeda M, Vidal E, Moser A, Steinberg S, Puri R D, Verma I C, Braverman. (2010) Rhizomelic Chondrodysplasia Punctata Type 1- Report of 3 cases from India. Journal of Applied Genetics ;51(1):107-110

132) Aggarwal S, Gupta G, Phadke S R (2009) Good outcome in two fetuses with echogenic lungs. Perinatology 11(2):82-85

133) Phadke S R and Sankar V H (2009) Polydactyly and genes. Indian J of Pediatrics

134) Phadke S R, FischerB, Gupta N, Prajnya R, Kabra M, Uwe Kornak (2010) Mutation spectrum in Indian patients with autosomal recessive infantile malignant osteopetrosis: Report of novel mutations. Indian Journal of Medical Research 131:508-514

135) Tamhankar PM, Phadke SR (2010) Clinical profile and molecular diagnosis in patients of facioscapulohumeral dystrophy from Indian subcontinent. Neurol India. 2010 May-Jun;58(3):436-40

136) Phadke S R, FischerB, Gupta N, Prajnya R, Kabra M, Kornak U (2010) Mutation spectrum in Indian patients with autosomal recessive infantile malignant osteopetrosis: Report of novel mutations. Indian Journal of Medical Genetics 131:508-514

137) Girisha K M, Mandal M, Phadke S R (2009) milder form of pachydermoperiostosis: a report of four cases. Clinical Dysmorphology 18:85-89

138) Ranganath P, Laine CM, Gupta D, Mäkitie O, Phadke SR. COL1A1 Mutation in an Indian Child with Caffey Disease. Indian J Pediatr. 2011 Jan 20.

139) Ahmad Z, Phadke S, Arch E, Glass J, Agarwal A, Garg A Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity. Clin Genet. 2010 Oct 23. doi: 10.1111/j.1399-0004.2010.01580.x.

140) Girisha KM, Lewis LE, Phadke SR, Kutsche K Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.. Am J Med Genet A. 2010 Nov;152A(11):2861-4.

141) Agarwal M, Parveen F, Faridi RM, Phadke SR, Das V, Agrawal S Recurrent pregnancy loss and apolipoprotein E gene polymorphisms: a case–control study from north India.. Am J Reprod Immunol. 2010 Sep;64(3):172-8.

142) Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia. (2011) Shagun Aggarwal, Worapoj Jinda, Chanin Limwongse, La-ongsri Atchaneeyasakul, Shubha R. Phadke. Molecular Vision. 2011; 17:1305- 1309.

143) Ranganath P, Rehder C, Phadke SR, Bali D. Prenatal Diagnosis of Pompe Disease - Enzyme Assay or Molecular Testing? – Accepted for publication in Indian Pediatrics.

144) Ranganath P. Agarwal M, Phadke SR. (2011) Angelman syndrome and prenatally diagnosed Prader-Willi syndrome in first cousins. American Journal of Medical Genetics. 155A(11):2788-90.

145) Phadke SR, Agarwal M, Aggarwal S. Late termination of pregnancy for fetal abnormalities: The perspective of Indian lay persons and medical practitioners.Prenat Diagn. 2011 Dec;31(13):1286-91

146) Shagun Aggarwal, Farah Parveen, Rehan Mujeeb Faridi, Shubha Phadke, Minal Borkar and Suraksha Agrawal. Vascular Endothelial Growth Factor gene polymorphisms in Indian patients with recurrent miscarriages. Reprod Biomed Online. 2011 Jan;22(1):59-64.

147) Phadke S R, Sharda S, Urquhart J, Jenkinson E, Chawala S, Trump D (2011) Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis-A new mental retardation syndrome? Am J Med Genet A. 155A(1):9- 13.

148) Phadke SR, Aggarwal S, Kumari N. (2011) The expanding spectrum of Elejalde syndrome: overlap with other disorders of overgrowth. Clin Dysmorphol. 20(2):98- 101.

149) Goel H, Phadke SR (2011) Reciprocal balanced translocation: infertility and recurrent spontaneous abortions in a family. (2011) Andrologia. Feb;43(1):75-7

150) Verma PK, Dalal A, Mittal B, Phadke SR.(2012) Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy. Indian J Hum Genet.18(1):91-4.

151) Phadke SR, Ranganath P, Boggula VR, Gupta D, Phadke RV, Sloman M, Turnpenny PD. Brothers with hypospadias, vertebral segmentation defects, and intellectual disability: new syndrome? Am J Med Genet A. 2012 Dec;158A(12):3065-70.

152) Singh K, Kumar R, Shukla A, Phadke SR, Agarwal S. (2012) Status of 25- hydroxyvitamin D deficiency and effect of vitamin D receptor gene polymorphisms on bone mineral density in thalassemia patients of North India. Hematology. 2012 Sep;17(5):291-6

153) Dalal A, Bhavani G SL, Togarrati PP, Bierhals T, Nandineni MR, Danda S, Danda D, Shah H, Vijayan S, Gowrishankar K, Phadke SR, Bidchol AM, Rao AP, Nampoothiri S, Kutsche K, Girisha KM. (2012) Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia. Am J Med Genet A. 2012 Nov;158A(11):2820-8.

154) Aggarwal S, Bogula VR, Mandal K, Kumar R, Phadke SR.(2012) Aetiologic spectrum of mental retardation & developmental delay in India. Indian J Med Res. 2012 Sep;136(3):436-44.

155) Phadke S, Agarwal M. (2012) Neural tube defects: A need for population-based prevention program. Indian J Hum Genet. 2012 May;18(2):145-7.

156) Tamhankar PM, Boggula V, Girisha KM, Phadke SR. (2012) Profile of patients with Von Gierke disease from India. Indian Pediatr. Mar;49(3):228-30

157) Jain S, Panigrahi I, Gupta R, Phadke SR, Agarwal S. (2012) Multiplex quantitative fluorescent polymerase chain reaction for detection of aneuploidies. Genet Test Mol Biomarkers. Jun;16(6):624-7

158) Phadke S R (2012) Arthralgia and limb pains: Pseudo-rheumatoid genetic disorders. Indian Journal of Rheumatology Vol. 7(1), Supplement: 57-68

159) Kaur A, Phadke SR. (2012) Analysis of short stature cases referred for genetic evaluation.Indian J Pediatr. Dec;79(12):1597-600.

160) Sardhara J, Behari S , Jaiswal AK, Srivastava A, Sahu R N, Mehrotra A, Phadke S, Singh U (2013) Syndromic versus nonsyndromic atlantoaxial dislocation: do clinico- radiological differences have a bearing on management? Accepted in Acta Neurochirurgica

161) Agarwal M, Phadke SR Atlantoaxial dislocation in a child affected by warfarin embryopathy: a case report. Clin Dysmorphol. 2013 Jul;22(3):124-6.

162) Aggarwal S, Phadke SR. Recurrence of urorectal septum malformation sequence spectrum anomalies in siblings: Time to explore the genetics. Am J Med Genet A. 2013 Jul;161(7):1718-21.

163) Kumar A, Agarwal S, Agarwal D, Phadke SR. Myotonic dystrophy type 1 (DM1): A triplet repeat expansion disorder. Gene. 2013 Jun 15;522(2):226-30.

164) Kaur A, Khan F, Agrawal SS, Kapoor A, Agarwal SK, Phadke SR. Cytochrome P450 (CYP2C9*2,*3) & vitamin-K epoxide reductase complex (VKORC1 -1639G

165) Agarwal M, Gupta R, Boggula V, Phadke S. Utility of chromosomal microarray in five cases with cytogenetic abnormalities detected by traditional karyotype. Clin Genet. 2013 Feb 21.

166) Agarwal M, Phadke SR Atlantoaxial dislocation in a child affected by warfarin embryopathy: a case report. Clin Dysmorphol. 2013 Jul;22(3):124-6..

167) Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U. (2013) Genotype-phenotype spectrum of PYCR1- related autosomal recessive cutis laxa. Mol Genet Metab. 2013 Nov;110(3):352-61

168) Shukla A, Taywade O, Stephen J, Gupta D, Phadke SR.(2013) Fibrodysplasia Ossificans Progressiva: Three Indian Patients with Mutation in the ACVR1 Gene.Indian J Pediatr. 2013

169) Phadke S, Gowda M (2013) Genetic testing in children..Indian Pediatr. 50(9):823-7.

170) Sharma N, Dixit P, Awasthi S, Phadke SR. (2013) Genetic variations of the FCER2 gene and asthma susceptibility in north Indian children: a case-control study. Biomarkers. 2013 Dec;18(8):660-7

171) Gupta R, Agarwal M, Boqqula VR, Phadke RV, Phadke SR. (2014) Hemiconvulsion-hemiplegia-epilepsy syndrome with 1q44 microdeletion: causal or chance association. Am J Med Genet A. Jan;164A(1):186-9.

172) Singh S, Kumar A, Agarwal S, Phadke SR, Jaiswal Y.(2014) Genetic insight of schizophrenia: past and future perspectives. Gene. Feb 10;535(2):97-100.

173) Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura KI,Kodera H, Miyatake S, Nakashima M, Saitsu H, Ogata K, Ikegawa S, Miyake N, Matsumoto N (2014) De novo SOX11 mutations cause Coffin-Siris syndrome. Nat Commun. 2014 Jun 2;5:4011.

174) Bidchol AM, Dalal A, Shah H, S S, Nampoothiri S, Kabra M, Gupta N, Danda S, Gowrishankar K, Phadke SR, Kapoor S, Kamate M, Verma IC, Puri RD, Sankar VH, Devi AR, Patil SJ, Ranganath P, Jain SJ, Agarwal M, Singh A, Mishra P, Tamhankar PM, Gopinath PM, Nagarajaram HA, Satyamoorthy K, Girisha KM. GALNS mutations in Indian patients with mucopolysaccharidosis IVA. Am J Med Genet A. 2014 Nov;164A(11):2793-801

175) Stephen J, Shukla A, Dalal A, Girisha KM, Shah H, Gupta N, Kabra M, Dabadghao P, Phadke SR. Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. Am J Med Genet A. 2014 Jun;164A(6):1482-

176) Agrawal D, Prakash S, Misra MK, Phadke SR, Agrawal S. Implication of HLA-G 5' upstream regulatory region polymorphisms in idiopathic recurrent spontaneous abortions.Reprod Biomed Online. 2014 Oct 16. doi: 10.1016/j.rbmo.2014.09.015. [Epub ahead of print]

177) Stephen J, Girisha KM, Dalal A, Shukla A, Shah H, Srivastava P, Kornak U, Phadke SR Mutations in patients with osteogenesis imperfecta from consanguineous Indian families..Eur J Med Genet. 2014 Oct 24. doi: 10.1016/j.

178) Agarwal D, Nayak SS, Adiga PK, Phadke SR, Girisha KM. Symmetrical Terminal Transverse Limb Deficiencies.Indian J Pediatr. 2014 Nov 5. [Epub ahead of print] No abstract available.

179) Agarwal M, Joshi K, Bhatia V, Gopalakrishnan V, Dabadghao P, Das V, Pandey A, Kumar M,Phadke SR.Feasibility Study of an Outreach Program of Newborn Screening in Uttar Pradesh.Indian J Pediatr. 2014 Nov 1

180) Dalal AB, Ranganath P, Phadke SR, Kabra M, Danda S, Puri RD, V H S, Gupta N, Patil SJ, Mandal K, Tamhankar P, Aggarwal S, Agarwal M. Prenatal diagnosis in India is not limited to sex selection. Genet Med. 2014 Oct 16.

181) Nandagopalan RS, Phadke SR, Dalal AB, Ranganath P.Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. Indian J Med Res. 2014 Aug;140(2):221-6.

182) Patil SJ, Rai GK, Bhat V, Ramesh VA, Nagarajaram HA, Matalia J, Phadke SR. Distal arthrogryposis type 5D with a novel ECEL1 gene mutation. Am J Med Genet A. 2014 Nov;164A(11):2857-62. doi: 10.1002/ajmg.a.36702. Epub 2014 Aug 5.

183) Agarwal D, Stephen J, Phadke RV, Phadke SR. Severe short stature, profound microcephaly, developmental brain abnormality, agenesis of optic disc and retinal vessels, and bilateral cryptorchidism in two male siblings: a new lethal recessively inherited syndrome. Clin Dysmorphol. 2014 Oct;23(4):117-20.

184) Siddesh A, Parveen F, Misra MK, Phadke SR, Agrawal S. Platelet-specific collagen receptor glycoprotein VI gene variants affect recurrent pregnancy loss.Fertil Steril. 2014 Oct;102(4):1078-1084

185) Sharma N, Jaiswal I, Mandal RK, Phadke SR, Awasthi S. Genetic variation of TBX21 gene increases risk of asthma and its severity in Indian children.J Hum Genet. 2014 Aug;59(8):437-43

186) Gupta D, Gupta V, Singh V, Chawla S, Parveen F, Agrawal S, Phadke SR. Study of Polymorphisms in CX3CR1, PLEKHA1 and VEGF genes as risk factors for age- related macular degeneration in Indian patients. Arch Med Res. 2014 Aug;45(6):489- 94.

187) Kandasamy S, Saxena D, Kishore Y, Phadke SR. Williams syndrome: a case series. Indian Pediatr. 2014 May;51(5):411-2.

188) Boggula VR, Shukla A, Danda S, Hariharan SV, Nampoothiri S, Kumar R, Phadke SR. Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: a study in 203 Indian patients. Indian J Med Res. 2014 Jan;139(1):66-75.

189) Girisha KM, Abdollahpour H, Shah H, Bhavani GS, Graham JM Jr, Boggula VR, Phadke SR, Kutsche K.A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis. Am J Med Genet A. 2014 Apr;164A(4):1035-40.

190) Sharma N, Awasthi S, Phadke SR. A novel genotyping method for detection of the CRHR1 (rs1396862: C>T) gene variation among North Indian population. Mol Biol Rep. 2014;41(5):2809-13

191) Narayanan DL, Phadke SR. Infantile Systemic Hyalinosis with Mutation in ANTXR2 Indian J Pediatr. 2016 Jan 25.

192) Phadke SR Lysosomal Storage Disorders: Present and Future. Indian Pediatr. 2015 ;52(12):1025-6.

193) Uttarilli A, Ranganath P, Jain SJ, Prasad CK, Sinha A, Verma IC, Phadke SR, Puri RD, Danda S, Muranjan MN, Jevalikar G, Nagarajaram HA, Dalal AB. Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. Indian J Med Res. 2015 Oct;142(4):414-25.

194) Tuteja M, Agarwal M, Phadke SR. Knowledge of Cord Blood Banking in General Population and Doctors: A Questionnaire Based Survey. Indian J Pediatr. 2015 Nov 21.

195) Phadke SR. Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. Am J Med Genet A. 2015 Nov;167A(11):2868.

196) Dalal A, Bhowmik AD, Agarwal D, Phadke SR. Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family. Indian J Med Res. 2015 Aug;142(2):220-4.

197) Bhavani GS, Shah H, Dalal AB, Shukla A, Danda S, Aggarwal S, Phadke SR, Gupta N, Kabra M, Gowrishankar K, Gupta A, Bhat M, Puri RD, Bijarnia-Mahay S, Nampoothiri S, Mohanasundaram KM, Rajeswari S, Kulkarni AM, Kulkarni ML, Ranganath P, Ramadevi AR, Hariharan SV, Girisha KM. Novel and recurrent mutations in WISP3 and an atypical phenotype. Am J Med Genet A. 2015 Oct;167A(10):2481-4.

198) Bidchol AM, Dalal A, Trivedi R, Shukla A, Nampoothiri S, Sankar VH, Danda S, Gupta N, Kabra M, Hebbar SA, Bhat RY, Matta D, Ekbote AV, Puri RD, Phadke SR, Gowrishankar K, Aggarwal S, Ranganath P, Sharda S, Kamate M, Datar CA, Bhat K, Kamath N, Shah H, Krishna S, Gopinath PM, Verma IC, Nagarajaram HA, Satyamoorthy K, Girisha KM. Recurrent and novel GLB1 mutations in India. Gene. 2015 Aug 10;567(2):173-81. doi: 10.1016/j.gene.2015.04.078. Epub 2015 Apr 30.

199) Shukla A, Mandal K, Patil SJ, Kishore Y, Phadke SR, Girisha KM. Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes. Am J Med Genet A. 2015 Aug;167A(8):1927-31. doi: 10.1002/ajmg.a.37116. Epub 2015 Apr 21.

200) Muthuswamy S, Bhalla P, Agarwal S, Phadke SR. Performance of QF-PCR in targeted prenatal aneuploidy diagnosis: Indian scenario. Gene. 2015 May 10;562(1):55-61. doi: 10.1016/j.gene.2015.02.028. Epub 2015 Feb 25.

201) Tuteja M, Bidchol AM, Girisha KM, Phadke SR. White matter changes in GM1 gangliosidosis. Indian Pediatr. 2015 Feb;52(2):155-6.

202) Kumar A, Agarwal S, Phadke SR, Pradhan S. Application of a reliable and rapid polymerase chain reaction based method in the diagnosis of myotonic dystrophy type 1 (DM1) in India. Meta Gene. 2014 Jan 15;2:106-13.

203) Shukla A, Phadke SR. Chondrodysplasia punctata tibia metacarpal type: report of a 1.5 year old child with severe short stature and extensive calcific stippling. Clin Dysmorphol. 2015 Jul;24(3):118-21.

204) Sharma N, Awasthi S, Phadke SR. A Mutagenic Primer Assay for Genotyping of the CRHR1 Gene Rare Variant rs1876828 (A/G) in Asians: A Cost-Effective SNP Typing. J Clin Lab Anal. 2014 Dec 26.

205) Agrawal D, Prakash S, Misra MK, Phadke SR, Agrawal S. Implication of HLA-G 5' upstream regulatory region polymorphisms in idiopathic recurrent spontaneous abortions. Reprod Biomed Online. 2015 Jan;30(1):82-91.

206) Stephen J, Girisha KM, Dalal A, Shukla A, Shah H, Srivastava P, Kornak U, Phadke SR. Mutations in patients with osteogenesis imperfecta from consanguineous Indian families. Eur J Med Genet. 2015 Jan;58(1):21-7.

207) Phadke S. S.S. Agarwal. Natl Med J India. 2014 Jan-Feb;27(1):44-5. No abstract available.

208) Agarwal D, Nayak SS, Adiga PK, Phadke SR, Girisha KM. Symmetrical terminal transverse limb deficiencies. Indian J Pediatr. 2015 May;82(5):478-9.

209) Agarwal M, Joshi K, Bhatia V, Gopalakrishnan V, Dabadghao P, Das V, Pandey A, Kumar M, Phadke SR. Feasibility study of an outreach program of newborn screening in Uttar Pradesh. Indian J Pediatr. 2015 May;82(5):427-32. doi: 10.1007/s12098-014-1557-6. Epub 2014 Nov 1.

210) Dalal AB, Ranganath P, Phadke SR, Kabra M, Danda S, Puri RD, Sankar VH, Gupta N, Patil SJ, Mandal K, Tamhankar P, Aggarwal S, Agarwal M. Prenatal diagnosis in India is not limited to sex selection. Genet Med. 2015 Jan;17(1):88. doi: 10.1038/gim.2014.149. No abstract available.

211) Nandagopalan RS, Phadke SR, Dalal AB, Ranganath P. Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. Indian J Med Res. 2014 Aug;140(2):221-6.

212) Bidchol AM, Dalal A, Shah H, S S, Nampoothiri S, Kabra M, Gupta N, Danda S, Gowrishankar K, Phadke SR, Kapoor S, Kamate M, Verma IC, Puri RD, Sankar VH, Devi AR, Patil SJ, Ranganath P, Jain SJ, Agarwal M, Singh A, Mishra P, Tamhankar PM, Gopinath PM, Nagarajaram HA, Satyamoorthy K, Girisha KM. GALNS mutations in Indian patients with mucopolysaccharidosis IVA. Am J Med Genet A. 2014 Nov;164A(11):2793-801

213) Phadke SR, Kar A, Bhowmik AD, Dalal A. Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders. Am J Med Genet A. 2016 Apr 4.

214) Mandal K, Ray S, Saxena D, Srivastava P, Moirangthem A, Ranganath P, Gupta N, Mukhopadhyay S, Kabra M, Phadke SR. Pycnodysostosis: mutation spectrum in five unrelated Indian children. Clin Dysmorphol. 2016 Apr 18.

215) Ranganath P, Stephen J, Iyengar R, Phadke SR. Worsening of Callus Hyperplasia after Bisphosphonate Treatment in Type V Osteogenesis Imperfecta. Indian Pediatr.2016 Mar 8;53(3):250-2.

216) Bhavani GS, Shah H, Shukla A, Gupta N, Gowrishankar K, Rao AP, Kabra M, Agarwal M, Ranganath P, Ekbote AV, Phadke SR, Kamath A, Dalal A, Girisha KM. Clinical and mutation profile of multicentric osteolysis nodulosis and Arthropathy. Am J Med Genet A. 2016 Feb;170(2):410-7.

217) Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel AL, St-Onge J, Duffourd Y, Pazour GJ, Franco B, Attie-Bitach T,Masurel- Paulet A, Rivière JB, Cormier-Daire V, Philippe C, Faivre L, Thauvin-Robinet C. Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia. Clin Genet. 2016 Dec;90(6):509-517

218) Narayanan DL, Srivastava P, Mandal K, Gambhir PS, Phadke SR. Hunter Syndrome in Northern India: Clinical features and Mutation Spectrum. Indian Pediatr. 2016 Feb 8;53(2):134-6.

219) Mandal K, Agarwal M, Boggula VR, Patil SJ, Phadke SR. Complex chromosomal rearrangement involving five chromosomes: deciphering genomic imbalances in an apparently balanced chromosomal translocation. Clin Dysmorphol. 2016 Apr;25(2):63-7.

220) Boggula VR, Agarwal M, Kumar R, Awasthi S, Phadke SR. Recurrent benign copy number variants & issues in interpretation of variants of unknown significance identified by cytogenetic microarray in Indian patients with intellectual disability. Indian J Med Res. 2015 Dec;142(6):699-712

221) Tuteja M, Agarwal M, Phadke SR. Knowledge of Cord Blood Banking in General Population and Doctors: A Questionnaire Based Survey. Indian J Pediatr. 2016 Mar;83(3):238-41

222) Martin CA, Murray JE, Carroll P, Leitch A, Mackenzie KJ, Halachev M, Fetit AE, Keith C, Bicknell LS, Fluteau A, Gautier P, Hall EA, Joss S, Soares G, Silva J, Bober MB, Duker A, Wise CA, Quigley AJ, Phadke SR; Deciphering Developmental Disorders Study., Wood AJ, Vagnarelli P, Jackson AP. Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. Genes Dev. 2016 Oct 1;30(19):2158-2172.:

223) Gupta D, Rao R, Girisha KM, Stephen J, Phadke SR. Unusual skin manifestations in a patient with menkes disease. Am J Med Genet A. 2016 Nov;170(11):3039-3040.

224) Singh B, Mandal K, Lallar M, Narayanan DL, Mishra S, Gambhir PS, Phadke SR. Next Generation Sequencing in Diagnosis of MLPA Negative Cases Presenting as Duchenne/ Becker Muscular Dystrophies. Indian J Pediatr. 2017 Sep 12.

225) Lallar M, Srivastava A, Phadke SR. Hyperekplexia: A forgotten diagnosis clinched by next-generation sequencing. Neurol India. 2017 Sep-Oct;65(5):1065-1067.

226) Siddesh A, Gupta G, Sharan R, Agarwal M, Phadke SR. Spectrum of prenatally detected central nervous system malformations: Neural tube defects continue to be the leading foetal malformation. Indian J Med Res. 2017 Apr;145(4):471-478.

227) Mangla P, Gambhir PS, Sudhanshu S, Srivastava P, Rai A, Bhatia V, Phadke SR. Pyruvate Carboxylase Deficiency Mimicking Diabetic Ketoacidosis. Indian J Pediatr. 2017 Dec;84(12):959-960

228) Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, ….., Phadke SR, Obregon MG, Linguraru MG, Muenke M. Noonan syndrome in diverse populations. Am J Med Genet A. 2017 Sep;173(9):2323-2334.

229) Narayanan DL, Pandey H, Moirangthem A, Mandal K, Gupta R, Puri RD, Patil SJ, Phadke SR. Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome. Indian Pediatr. 2017 Aug 15;54(8):638-643.

230) Narayanan DL, Phadke SR. A novel variant in MED12 gene: Further delineation of phenotype. Am J Med Genet A. 2017 Aug;173(8):2257-2260.

231) Lallar M, Phadke SR. Fetal intra abdominal umbilical vein varix: Case series and review of literature. Indian J Radiol Imaging. 2017 Jan-Mar;27(1):59-61.

232) Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L Phadke SR, Cormier-Daire V, , Thauvin-Robinet C. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. J Med Genet. 2017 Jun;54(6):371-380.

233) Moirangthem A, Tuteja Bhatia M, Srivastava P, Mandal K, Rai A, Phadke SR. Expansion of the phenotypic spectrum in three families of methyl CpG-binding protein 2 duplication syndrome. Clin Dysmorphol. 2017 Apr;26(2):73-77

234) Salian S, Cho TJ, Phadke SR, Gowrishankar K, Bhavani GS, Shukla A, Jagadeesh S, Kim OH, Nishimura G, Girisha KM. Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations. Am J Med Genet A. 2017 Mar;173(3):588-595.

235) Srivastava P, Gambhir PS, Phadke SR. KBG syndrome: 16q24.3 microdeletion in an Indian patient. Clin Dysmorphol. 2017 Jul;26(3):161-166.

236) Martin CA, Murray JE, Carroll P, Leitch A, Mackenzie KJ, Halachev M, Fetit AE, Keith C, Bicknell LS, Fluteau A, Gautier P, Hall EA, Joss S, Soares G, Silva J, Bober MB, Duker A, Wise CA, Quigley AJ, Phadke SR; Deciphering Developmental Disorders Study, Wood AJ, Vagnarelli P, Jackson AP. Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. Genes Dev. 2016 Oct 1;30(19):2158-2172. Epub 2016 Oct 13.

237) Srivastava P, Pandey H, Agarwal D, Mandal K, Phadke SR. Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families. Am J Med Genet A. 2017 Jan;173(1):163-168.

238) Gupta A, Kapoor A, Phadke S, Sinha A, Kashyap S, Khanna R, Kumar S, Garg N, Tewari S, Goel P. Use of strain, strain rate, tissue velocity imaging, and endothelial function for early detection of cardiovascular involvement in patients with beta- thalassemia. Ann Pediatr Cardiol. 2017 May-Aug;10(2):158-166

239) Verma A, Hemlata, Elhence P, Phadke SR, Neyaz Z. Posterior reversible encephalopathy syndrome following blood transfusion in a patient with factor X deficiency: Is it an unusual systemic manifestation of an adverse transfusion reaction? Transfus Apher Sci. 2017 Dec 6..

240) Kar A, Phadke SR, Das Bhowmik A, Dalal A. Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly. Am J Med Genet A. 2018 Jan;176(1):34-40.

241) Tuteja M, Agarwal D, Phadke SR. Double Segment Chromosomal Imbalance due to Inherited Chromosomal Translocation: Detection by Cytogenetic Microarray. Indian Pediatr. 2017 Oct 15;54(10):879-881.

242) Moirangthem A, Phadke SR. Socio-demographic Profile and Economic Burden of Treatment of Transfusion Dependent Thalassemia. Indian J Pediatr. 2018 Feb;85(2):102-107

243) Lallar M, Rai A, Srivastava P, Mandal K, Gupta N, Kabra M, Phadke SR. Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls. Indian Pediatr. 2018 Feb 9. [Epub ahead of print]

244) Sheth J, Pancholi D, Mistri M, Nath P, Ankleshwaria C, Bhavsar R, Puri R,Phadke S, Sheth F. Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro – a common Gaucher disease mutation in India. BMC Med Genet. 2018 Oct 1;19(1):178.

245) Kashyap S, Kumar S, Agarwal V, Misra DP, Phadke SR, Kapoor A. Gene expression profiling of coronary artery disease and its relation with different severities. J Genet. 2018 Sep;97(4):853-867.

246) Rai A, Puri RD, Phadke SR. Extending the phenotype and an ECEL1 gene mutation in distal arthrogryposis type 5D. Clin Dysmorphol. 2018 Oct;27(4):130-13

247) Sharma A, Poddar U, Agnihotry S, Phadke SR, Yachha SK, Aggarwal R. Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis. BMC Gastroenterol. 2018 Jul 4;18(1):107.

248) Mishra S, Srivastava A, Mandal K, Phadke SR. Study of the association of forkhead box P3 (FOXP3) gene polymorphisms with unexplained recurrent spontaneous abortions in Indian population. J Genet. 2018 Jun;97(2):405-410.

249) Lallar M, Srivastava P, Phadke SR. A large interstitial 11q deletion with isolated mild intellectual disability: review of the literature for genotype-phenotype correlation. Clin Dysmorphol. 2018 Oct;27(4):142-144

250) Singh B, Srivastava P, Phadke SR. Sequence variations in TENM3 gene causing eye anomalies with intellectual disability: Expanding the phenotypic spectrum. Eur J Med Genet. 2018 May 9. pii: S1769-7212(17)30743-7.

251) Saxena D, Srivastava P, Tuteja M, Mandal K, Phadke SR. Phenotypic characterization of derivative 22 syndrome: case series and review. J Genet. 2018Mar;97(1):205-211.

252) Phadke SR, Puri RD, Ranganath P. Prenatal screening for genetic disorders:Suggested guidelines for the Indian Scenario. Indian J Med Res. 2017 Dec;146(6):689-699.

253) Narayanan DL, Phadke SR. Concepts, Utility and Limitations of Cord Blood Banking: What Clinicians Need to Know. Indian J Pediatr. 2018 Mar 20.

254) Mishra S, Pandey H, Srivastava P, Mandal K, Phadke SR. Connexin 26 (GJB2)Mutations Associated with Non-Syndromic Hearing Loss (NSHL). Indian J Pediatr.2018 Mar 15.

255) Puri RD, Kapoor S, Kishnani PS, Dalal A, Gupta N, Muranjan M, Phadke SR,Sachdeva A, Verma IC, Mistry PK; Gaucher Disease Task Force. Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics. Indian Pediatr. 2018 Feb 15;55(2):143-153.

256) Chang HR, Cho SY, Lee JH, Lee E, Seo J, Lee HR, Cavalcanti DP, Mäkitie O, Valta H, Girisha KM, Lee C, Neethukrishna K, Bhavani GS, Shukla A, Nampoothiri S, Phadke SR, Park MJ, Ikegawa S, Wang Z, Higgs MR, Stewart GS, Jung E, Lee MS, Park, JH, Lee EA, Kim H, Myung K, Jeon W, Lee K, Kim D, Kim OH, Choi M, Lee HW, Kim Y, Cho TJ. Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia. Am J Hum Genet. 2019 Mar 7;104(3):439-453.

257) Narayanan DL, Matta D, Gupta N, Kabra M, Ranganath P, Aggarwal S, Phadke SR, Datar C, Gowrishankar K, Kamate M, Jain JMN, Dalal A. Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy. J Hum Genet. 2019 Apr;64(4):323-331. Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, Badoe E, Thong MK, Leon E, Girisha KM, Shukla A, Nayak SS, Shotelersuk V, Megarbane A, Phadke S, Sirisena ND, Dissanayake VHW, Ferreira CR, Kisling MS, Tanpaiboon P, Uwineza A, Mutesa L, Tekendo-Ngongang C, Wonkam A, Fieggen K, Batista LC, Moretti- Ferreira D, Stevenson RE, Prijoles EJ, Everman D, Clarkson K, Worthington J, Kimonis V, Hisama F, Crowe C, Wong P, Johnson K, Clark RD, Bird L, Masser- Frye D, McDonald M, Willems P, Roeder E, Saitta S, Anyane-Yeoba K, Demmer L, Hamajima N, Stark Z, Gillies G, Hudgins L, Dave U, Shalev S, Siu V, Ades A, Dubbs H, Raible S, Kaur M, Salzano E, Jackson L, Deardorff M, Kline A, Summar M, Muenke M, Linguraru MG, Krantz ID. Cornelia de Lange syndrome in diverse populations. Am J Med Genet A. 2019 Feb;179(2):150-158.

258) Rai A, Narayanan DL, Phadke SR. Malan syndrome: Extension of genotype and phenotype spectrum. Am J Med Genet A. 2018 Dec;176(12):2896-2900

259) Lallar M, Srivastava P, Rai A, Saxena D, Mandal K, Phadke SR. Cytogenetic microarray in structurally normal and abnormal foetuses: a five year experience elucidating increasing acceptance and clinical utility. J Genet. 2019 Mar;98(1)

260) Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, Isidor B, Ong WP, Haniffa M, White SM, Matsuo M, Saito K, Phadke S, Kosho T, Yap P, Goyal M, Clarke LA, Sachdev R, McGillivray G, Leventer RJ, Patel C, Yamagata T, Osaka H, Hisaeda Y, Ohashi H, Shimizu K, Nagasaki K, Hamada J, Dateki S, Sato T, Chinen Y, Awaya T, Kato T, Iwanaga K, Kawai M, Matsuoka T, Shimoji Y, Tan TY, Kapoor S, Gregersen N, Rossi M, Marie-Laure M, McGregor L, Oishi K, Mehta L, Gillies G, Lockhart PJ, Pope K, Shukla A, Girisha KM, Abdel-Salam GMH, Mowat D, Coman D, Kim OH, Cordier MP, Gibson K, Milunsky J, Liebelt J, Cox H, El Chehadeh S, Toutain A, Saida K, Aoi H, Minase G, Tsuchida N, Iwama K, Uchiyama Y, Suzuki T, Hamanaka K, Azuma Y, Fujita A, Imagawa E, Koshimizu E, Takata A, Mitsuhashi S, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N. Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. J Hum Genet. 2019 Sep

261) Mishra S, Rai A, Srivastava P, Phadke SR. A mild phenotype of LGI4-Related arthrogryposis multiplex congenita with intrafamilial variability. Eur J Med Genet. 2019 Sep 9:103756.

262) Gupta L, Ahmed S, Singh B, Prakash S, Phadke S, Aggarwal A. Novel NLRP12 variant presenting with familial cold autoimmunity syndrome phenotype. Ann Rheum Dis. 2019 Aug 24. pii: annrheumdis-2019-216158.

263) Moirangthem A, Mandal K, Ghosh A, Phadke SR. Vici Syndrome with a Novel Mutation in EPG5. Indian Pediatr. 2019 Jul 15;56(7):603-605.

264) Pani K, Sharma S, Murari M, Yadav M, Phadke S, Agarwal S. Clinico-hematological Profile of Hb E-β Thalassemia-Prospective Analysis in a tertiary Care Centre. J Assoc Physicians India. 2018 Jun;66(6):42-45

265) Rauen KA, Alsaegh A, Ben-Shachar S, Berman Y, Blakeley J, Cordeiro I, Elgersma Y, Evans DG, Fisher MJ, Frayling IM, George J, Huson SM, Kerr B, Khire U, Korf B, Legius E, Messiaen L, van Minkelen R, Nampoothiri S, Ngeow J, Parada LF, Phadke S, Pillai A, Plotkin SR, Puri R, Raji A, Ramesh V, Ratner N, Shankar SP, Sharda S, Tambe A, Vikkula M, Widemann BC, Wolkenstein P, Upadhyaya M. First International Conference on RASopathies and Neurofibromatoses in Asia:Identification and advances of new therapeutics. Am J Med Genet A. 2019, Jun;179(6):1091-1097.

266) 1: Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, Sirisena ND, Dissanayake VHW, Paththinige CS, Aravena T, Nampoothiri S, Yesodharan D, Girisha KM, Patil SJ, Jamuar SS, Goh JC, Utari A, Sihombing N, Mishra R, Chitrakar NS, Iriele BC, Lulseged E, Megarbane A, Uwineza A, Oyenusi EE, Olopade OB, Fasanmade OA, Duenas-Roque MM, Thong MK, Tung JYL, Mok GTK, Fleischer N, Rwegerera GM, de Herreros MB, Watts J, Fieggen K, Huckstadt V, Moresco A, Obregon MG, Hussen DF, Ashaat NA, Ashaat EA, Chung BHY, Badoe E, Faradz SMH, El Ruby MO, Shotelersuk V, Wonkam A, Ekure EN, Phadke SR, Richieri-Costa A, Muenke M. Turner syndrome in diverse populations. Am J Med Genet A. 2020 Feb;182(2):303-313. doi: 10.1002/ajmg.a.61461. Epub 2019 Dec 19. PMID:31854143.

267) Masih S, Moirangthem A, Phadke SR. Renpenning syndrome in an Indian patient. Am J Med Genet A. 2020 Feb;182(2):293-295. doi: 10.1002/ajmg.a.61457. Epub 2019 Dec 16. PMID: 31840915.

268) Arora V, Setia N, Dalal A, Vanaja MC, Gupta D, Razdan T, Phadke SR, Saxena R, Rohtagi A, Verma IC, Puri RD. Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients. Mol Genet Metab Rep. 2020 Jan 11;22:100561. doi: 10.1016/j.ymgmr.2019.100561. PMID: 31956508; PMCID: PMC6957780.

269) Gupta L, Ahmed S, Singh B, Prakash S, Phadke S, Aggarwal A. Novel NLRP12 variant presenting with familial cold autoimmunity syndrome phenotype [published online ahead of print, 2019 Aug 24]. Ann Rheum Dis. 2019;annrheumdis-2019-216158. doi:10.1136/annrheumdis-2019-216158

270) Pasumarthi, D., Gupta, N., Sheth, J. et al. Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III. J Hum Genet (2020). https://doi.org/10.1038/s10038-020-0797-8

BOOK AND CHAPTERS IN BOOK,/p>

1. “GENETICS FOR CLINICIANS” Published in June 2007 by PRISM BOOKS PVT LTD, 1865, 32nd Cross, 10th main, BSK II Stage, Banglore, 560070

2. “Genetic Counseling” in “Update in Pediatrics” edt I C Verma

3. “Malformation syndromes in India” in ‘Genetic disorders in Indian subcontinent’ edited by Dhavendra Kumar, Kluwer Academic Publishers, 2005 and Second edition in 2011

4. “Molecular techniques in prenatal diagnosis” in ‘Medicine Update2003’ vol VII pp42-45

5. “Handbook of clinical genetics” for ICMR course in Medical Genetics and Genetic Counseling. 2002

6. “Chromosomal disorders” in ‘ Pediatrics & Neonatology’ edit Agrawal KN, Modern Publishers, New Delhi, 2000

7. “Congenital Malformations” in ‘Human genetics for students’ by Moving Academy of Medicine & Biomedicine, Pune, edited by Deo MG, Ganguli S, Kher A, 2002

8. “Genetic counseling and prenatal diagnosis” in API Textbook of Medicine, ninth edition . Editor: Yash Pal Munjal, Japee brothers, 2012, pp209 -214

9. Section Editor for ‘GENETICS’ in IAP color atlas of Pediatrics. Editor: A Parthsarathy. Japee brothers, 2012. Pp260-280

10. ‘Genetic metabolic disorders’ in IAP textbook of pediatrics. Editor: Parthsarathy, fifth edition, 2013

11. Section editor for GENETICS in IAP textbook of pediatrics. Editor: Parthsarathy, JAPEE Publishers, fifth edition, 2013, 2018 edition

12. ‘Clinical Genetics’ in Textbook of Pediatrics, Editor: Piyush Gupta. CBS publishers 2013

13. ‘Inborn Errors of Metabolism Presenting in the Newborn Period: Representative Phenotypes & Diagnostic Approach’ in ‘Medical Emergencies in Newborn’ Editor: Meharban Singh, 2016

14. “Genetic counseling and prenatal diagnosis” in API Textbook of Medicine, ninth edition . Editor: Dr. Sandhya Kamath, Japee brothers, 2019, Eleventh Edition, pp209 -214

15. Section Editor for Medical GENETICS, in API Textbook of Medicine, ninth edition. Editor: Dr. Sandhya Kamath, Japee brothers, 2019, Eleventh Edition,

16. ‘Down syndrome: Rising up’ in IAP Recent Advances in Pediatrics, Editor in chief- PSN Menon, published by JAYPEE Brothers Medical Publishers [New Delhi] First Edition 2020, pp438-456

PAPERS/POSTERS PRESENTED IN THE CONFERENCE

1. Role of fetal autopsy in counseling for prenatally diagnosed malformed fetuses. In Annual conference of Indian Society of Human Genetics at Bangalore.

2. Asphyxiating thoracic dysplasia. In Annual Conference of Indian Society of Human Genetics at Nagpur – 1998

3. Genetic Counseling in Indian Milieu. International Conference of Human Genetics at Vienna, Austria-2001.

4. Counseling of prenatally diagnosed malformation of uncertain prognosis: A dilemma. Annual conference of Indian Society of Prenatal Diagnosis & Therapy at Pune-2002.

5. “C” Syndrome phenotype in a child with partial trisomy of 13q. At 43rd Short course in Medical & Experimental Mammalian Genetics at Bar Harbor, USA 15th July to 26th July, 2002

6. “ Cytogenetic Microarray in the evaluation in evaluation of Intellectual disability‘ in Annual conference of American College of Medical Genetics, at Vancouver, Canada from 15th March 2011 to 20th March 2011

7 ‘Clinical genetics: Indian Scenario” in Twelfth ICHG and annual conference of American Society of Human Genetics at Montreal, Canada, 11th to 15th Oct 2011

8. ‘Homozygosity Mapping and Gene Sequencing Identifies a Novel Mutation in an Indian patient with Warburg Micro Syndrome in ‘International conference 2014 ACMG Annual Clinical Genetics Meeting, March 25 to 29, 2014 at Nashville, Tennessee, USA‘

9. Genomic techniques and consanguinity in rare disorders ‘ in Molecular Diagnostics Conference [26th Jan 16 to 27th Jan 16] at MEDLAB Congress in Dubai

8. “Recent advances in rare disease: Gaucher disease as a model (RARD 2017)”

May 18-20, 2017 in Moscow, Russia. Presented a poster on ‘Molecular Diagnosis of Mucopolysacchardosis II (Hunter Syndrome) by Sequencing of IDS gene’ and got award

9. ‘Homozygosity Stretches Around Homozygous mutations for Autosomal Recessive Disorders in patients from Non –Consanguineous Families from India: Inheritance by Descent is common’ in ASHG 2018, at San Diego, USA, from 16th Oct to 20th Oct 2018

10. ‘Rare neurodegenerative disease of prenatal onset: Fourth case with PNPLA8 related autosomal recessive disorder,’ in ISPD 23rd International Conference on Prenatal Diagnosis Saturday, 7 September 2019 – Wednesday, 11 September 2019 MAX Atria At Singapore EXPO, Singapore

11. ‘Spectrum of malformations detected before 16 weeks by ultrasonography’ in ISPD 23rd International Conference on Prenatal Diagnosis Saturday, 7 September 2019 – Wednesday, 11 September 2019 MAX Atria At Singapore EXPO, Singapore

1. Congenital Nephrotic Syndrome in India in the Current Era: A Multicenter Case Series. Sinha R, Vasudevan A, Agarwal I, Sethi SK, Saha A, Pradhan S, Ekambaram S, Thaker N, Matnani M, Banerjee S, Sharma J, Singhal J, Ashraf S, Mandal K. Nephron. 2019 Oct 25:1-9.

2. Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children. Narayanan DL, Ranganath P, Aggarwal S, Dalal A, Phadke SR, Mandal K. Indian Pediatr. 2019 Dec 15;56(12):1017-1019.

3. Vici Syndrome with a Novel Mutation in EPG5. Moirangthem A, Mandal K, Ghosh A, Phadke SR. Indian Pediatr. 2019 Jul 15;56(7):603-605.

4. Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children. Gupta S, Joshi K, Zaidi G, Sarangi AN, Mandal K, Bhavani N, Pavithran PV, Pillai MG, Singh SK, Godbole T, Bhatia V, Bhatia E. J Pediatr Endocrinol Metab. 2019 Jun 20.

5. Congenital Chylothorax in a Neonate with Cornelia de Lange Syndrome: A Rare Complication Managed with a Novel Indigenously Prepared Milk Formulation. Gupta A, Naranje KM, Singh A, Pandita A, Gupta G, Mandal K, Pradhan M. Indian J Pediatr. 2019 Jul;86(7):645-647.

6. Cytogenetic microarray in structurally normal and abnormal foetuses: a five year experience elucidating increasing acceptance and clinical utility. Lallar M, Srivastava P, Rai A, Saxena D, Mandal K, Phadke SR. J Genet. 2019 Mar;98(1).

7. Endocrine Manifestations of Von Hippel-Landau Disease.(Review article). Pradhan R, George N, Mandal K, Agarwal A, Gupta SK. Indian J Endocrinol Metab. 2019 Jan-Feb;23(1):159-164.

8. Expanding the phenotype in autosomal dominant mental retardation-24: a novel variation in DEAF1 gene. Sharma P, Gambhir PS, Phadke SR, Mandal K. Clin Dysmorphol. 2019 Apr;28(2):94-97.

9. Study of the association of forkhead box P3 (FOXP3) gene polymorphisms with unexplained recurrent spontaneous abortions in Indian population. Mishra S, Srivastava A, Mandal K, Phadke SR. J Genet. 2018 Jun;97(2):405-410.

10. Phenotypic characterization of derivative 22 syndrome: case series and review. Saxena D, Srivastava P, Tuteja M, Mandal K, Phadke SR. J Genet. 2018 Mar;97(1):205-211. Review.

11. Connexin 26 (GJB2) Mutations Associated with Non-Syndromic Hearing Loss (NSHL). Mishra S, Pandey H, Srivastava P, Mandal K, Phadke SR. Indian J Pediatr. 2018 Dec;85(12):1061-1066

12. Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls. Lallar M, Rai A, Srivastava P, Mandal K, Gupta N, Kabra M, Phadke SR. Indian Pediatr. 2018 Jun 15;55(6):474-477. Epub 2018 Feb 9.

13. Next Generation Sequencing in Diagnosis of MLPA Negative Cases Presenting as Duchenne/ Becker Muscular Dystrophies (2017)Indian Journal of Pediatrics

14. Noonan syndrome in diverse populations (2017) American Journal of Medical Genetics, Part A

15. Expansion of the phenotypic spectrum in three families of methyl CpG-binding protein 2 duplication syndrome. Moirangthem A, Tuteja Bhatia M, Srivastava P, Mandal K, Rai A, Phadke SR. Clin Dysmorphol. 2017 Apr;26(2):73-77.

16. Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome. Indian pediatrics Narayanan DL, Pandey H, Moirangthem A, Mandal K, GuptR, Puri RD, Patil SJ, Phadke SR.Indian Pediatr. 2017 Aug 15;54(8):638-643. Epub 2017 Jun 4.

17. Cover Image, Volume 173A, Number 9, September 2017. American journal of medical genetics. Part A

18. Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families. Srivastava P, Pandey H, Agarwal D, Mandal K, Phadke SR. Am J Med Genet A. 2017 Jan;173(1):163-168.

19. Fanconi-Bickel Syndrome: Another Novel Mutation in SLC2A2. Amita M, Srivastava P, Mandal K, De S, Phadke SR. ndian J Pediatr. 2017 Mar;84(3):236- 237.

20. Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux.Srivastava P, Tuteja M, Dalal A, Mandal K, R Phadke S. J Genet. 2016 Dec;95(4):905-909.

21. Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II. Uttarilli A, Ranganath P, Matta D, Md Nurul Jain J, Prasad K, Babu AS, Girisha KM, Verma IC, Phadke SR, Mandal K, Puri RD, Aggarwal S, Danda S, Sankar VH, Kapoor S, Bhat M, Gowrishankar K, Hasan AQ, Nair M, Nampoothiri S, Dalal A. Clin Genet. 2016 Dec;90(6):496-508

22. Novel sequence variations in the thymidine phosphorylase gene causing mitochondrial neurogastrointestinal encephalopathy. Karyampudi A, Srivastava P, Mandal K, Yadav P, Ghoshal UC, Verma A, Phadke SR. Clin Dysmorphol. 2016 Oct;25(4):156-62.

23. Pycnodysostosis: mutation spectrum in five unrelated Indian children. Mandal K, Ray S, Saxena D, Srivastava P, Moirangthem A, Ranganath P, Gupta N, Mukhopadhyay S, Kabra M, Phadke SR. Clin Dysmorphol. 2016 Apr 18.

24. Bidirectional ventricular tachycardia of unusual etiology. Praloy Chakraborty, Bhavna Kaul, Kausik Mandal, H.S. Isser, Sandeep Bansal, Anandaraja Subramanian. Indian Pacing Electrophysiol J. 2016 Feb 23;15(6):296-9.

25. Incessant left ventricular tachycardia of unusual etiology. Chakraborty P, Isser HS, Arava S, Mandal K. Indian Pacing Electrophysiol J. 2016 May - Jun;16(3):104-106.

26. Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. Ranganath P, Matta D, Bhavani GS, Wangnekar S, Jain JM, Verma IC, Kabra M, Puri RD, Danda S, Gupta N, Girisha KM, Sankar VH, Patil SJ, Ramadevi AR, Bhat M, Gowrishankar K, Mandal K, Aggarwal S, Tamhankar PM, Tilak P, Phadke SR, Dalal A. Am J Med Genet A. 2016 Oct;170(10):2719-30.

27. Complex chromosomal rearrangement involving five chromosomes: deciphering genomic imbalances in an apparently balanced chromosomal translocation. Mandal K, Agarwal M, Boggula VR, Patil SJ, Phadke SR. Clin Dysmorphol. 2016 Apr;25(2):63-7

28. Hunter Syndrome in Northern India: Clinical features and Mutation Spectrum. Narayanan DL , Srivastava P, Mandal K, Gambhir PS, Phadke SR. Indian Pediatr. 2016;53:134-6.

29. Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene. Narayanan DL, Shukla A, Siddesh AR, Stephen J, Srivastava P, Mandal K, Phadke SR. Indian J Pediatr. 2016 Feb 1. [Epub ahead of print]

30. Smith-Magenis Syndrome: Face Speaks. Gupta R, Gupta N, Nampoothiri S, Mandal K, Kishore Y, Sharma P, Kabra M, Phadke SR. Indian J Pediatr. 2015 Dec 17. [Epub ahead of print]

31. Potter's sequence: A story of the rare, rarer and the rarest. Sarkar S, DasGupta S, Barua M, Ghosh R, Mondal K, Chatterjee U, Datta C. Indian J Pathol Microbiol. 2015 Jan-Mar;58(1):102-4.

32. Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes. Shukla A, Mandal K, Patil SJ, Kishore Y, Phadke SR, Girisha KM. Am J Med Genet A. 2015 Apr 21. doi: 10.1002/ajmg.a.37116. [Epub ahead of print]

33. Prenatal diagnosis in India is not limited to sex selection. Dalal AB, Ranganath P, Phadke SR, Kabra M, Danda S, Puri RD, Sankar VH, Gupta N, Patil SJ, Mandal K, Tamhankar P, Aggarwal S, Agarwal M.

34. Partial trisomy of chromosome 15q and partial monopsony of 6q due to maternal balanced translocation. Singla S, Mandal K, Sharma S, Chhapola V. J Pediatr Neurosci. 2014 May;9(2):178-81.

35. Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literature. Ekbote AV, Danda S, Zankl A, Mandal K, Maguire T, Ungerer K. J Clin Res Pediatr Endocrinol. 2014;6(1):40-6.

36. A novel X-chromosomal microdeletion encompassing congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Raychaudhury T, George R, Mandal K, Srivastava VM, Thomas M, Bornholdt D, Grzeschik KH, Koehler A. Pediatr Dermatol. 2013 Mar-Apr;30(2):250-2.

37. Fanconi- Bickel Syndrome: mutation in an Indian patient. Ekbote AV, Mandal K, Agarwal I, Sinha R, Danda S. Indian J Pediatr. 2012 Jun;79(6):810-2.

38. Prenatal diagnosis of Apert Syndrome in Second Trimester – A Case Report : Phadke S R, Mandal K, Ranganath P; Perinatology; 2012; 12:4; 159-62

39. Aetiologic spectrum of mental retardation & developmental delay in India. Aggarwal S, Bogula VR, Mandal K, Kumar R, Phadke SR. Indian J Med Res. 2012 Sep;136(3):436-44.

40. Familial 18p deletion syndrome and 18p partial trisomy inherited from a mother with balanced translocation. Koshy B, Mandal K, Srivastava VM, Loius PT, Danda S. Clin Dysmorphol. 2011 Jul;20(3):148-51.

41. Homocysteine, fibrinogen and lipid profile in children of young adults with coronary artery disease. Khalil A, Mandal K, Khalil S, Mallika V. Indian Pediatr. 2011 Feb;48(2):156-7.

42. Vitamin D Receptor Gene Polymorphisms in Indian Children with Idiopathic Nephrotic Syndrome Tabrez Jafar, Gaurav Tripathi, Abass A. Mehndi, Kaushik Mandal, Sanjeev Gulati, Raj K Sharma, Vinod. P. Baburaj, Shaily Awasthi, Suraksha Agrawal. Int J Hum Genet, 2009; 9(1): 49-55. Published online: 04 Sep 2017

43. Does cytokine gene polymorphism affect steroid responses in idiopathic nephrotic syndrome? Tripathy G, Jafar T, Mandal Kaushik et al. Indian J Med Sci, 62(10), October 2008: 383-91

44. Use of Multiplex Ligation-Dependent Probe Amplification (MLPA) in screening of subtelomeric regions in children with idiopathic mental retardation. Mandal K, Boggula VR, Borkar M, Agarwal S, Phadke SR. Indian J Pediatr. 2009 Oct;76(10):1027-31.

45. Fabry disease: a treatable lysosomal storage disorder. Phadke SR, Mandal K, Girisha KM. Natl Med J India. 2009 Jan-Feb;22(1):20-2.

46. Milder form of pachydermoperiostosis: a report of four cases. Girisha KM, Mandal K, Phadke SR. Clin Dysmorphol. 2009 Apr;18(2):85-9.

47. Congenital swan neck deformity of fingers with syndactyly. Mandal K, Phadke SR, Kalita J. Clin Dysmorphol. 2008 Apr;17(2):109-11.

48. Berardinelli-Seip congenital lipodystrophy. Mandal K, Aneja S, Seth A, Khan A. Indian Pediatr. 2006 May;43(5):440-5.

49. Acute transverse myelitis following hepatitis E virus infection. Mandal K, Chopra N. Indian Pediatr. 2006 Apr;43(4):365-6.

Book Chapters

1. PG Textbook of Pediatrics; SECTION 3: Metabolic Disorders; Chapter3.13 Carbohydrate Metabolism Defects

2. Pediatric Office Practice: Chapter on Genetic and metabolic disorders

3. Genetics in Tropics: Tropical Pediatrics

4. Congenital anomalies of brain and spinal cord: Pediatric neurology

1. Saxena D, Phadke SR. Prenatal diagnosis of congenital high airway obstruction syndrome: our experience from a tertiary care center. Int J Reprod Contracept Obstet Gynecol 2020;9:3858-61.

2. Rai A, Mandal K, Saxena D, Lallar M, Phadke SR. Distal Arthrogryposis: A Clue to the Etiology of Neonatal Cholestasis [published online ahead of print, 2020 Apr 1]. Indian J Pediatr. 2020;10.1007/s12098-020-03248-5. doi:10.1007/s12098-020- 03248-5

3. Lallar M, Srivastava P, Rai A, Saxena D, Mandal K, Phadke SR. Cytogenetic microarray in structurally normal and abnormal foetuses: a five year experience elucidating increasing acceptance and clinical utility. J Genet. 2019 Mar;98.pii: 6

4. Saxena D, Srivastava P, Tuteja M, Mandal K, Phadke SR. Phenotypic characterization of derivative 22 syndrome: case series and review. J Genet. 2018 Mar;97(1):205-211.

5. Saxena D, Agarwal M, Gupta D, Agrawal S, Das V, Phadke SR. Utility and limitations of multiplex ligation-dependent probe amplification technique in the detection of cytogenetic abnormalities in products of conception. J Postgrad Med 2016 Oct-Dec;62(4):239-41.

6. Saxena D, Srivastava P, Phadke SR. A novel heterozygous missense mutation in uromodulin gene in an Indian family with familial juvenile hyperuricemic nephropathy. Indian J Nephrol 2016 Sep;26(5):364‐7.

7. Mandal K, Ray S, Saxena D, Srivastava P, Moirangthem A, Ranganath P, Gupta N, Mukhopadhyay S, Kabra M, Phadke SR. Pycnodysostosis: mutation spectrum in five unrelated Indian children. Clin Dysmorphol 2016 Jul;25(3):113-20.

8. Srivastava P, Saxena D, Joshi S, Phadke SR. Consanguinity as an adjunct diagnostic tool. Indian J Pediatr.2016 March;83(3):258–260.

9. D. Saxena, M.K. Misra, F. Parveen, S.R. Phadke, S. Agrawal. The transcription factor Forkhead Box P3 gene variants affect idiopathic recurrent pregnancy loss. Placenta. 2015 Feb;36(2):226-231.

10. D. Saxena, S.R. Phadke. Prader – Willi syndrome due to an unbalanced chromosomal rearrangement. Genetic Clinics (Clinical Vignette). 2015 Jan-March;8(1):3-5.

11. D. Saxena. Next generation sequencing: window to a new era of molecular diagnostics. Genetic Clinics (GeNeXprESS). 2014 Oct-Dec;7(4):15-16.

12. Kandasamy S, Saxena D, Kishore Y, Phadke SR. Williams syndrome: a case series. Indian Pediatr. 2014May;51(5):411-2.

1. Masih S, Moirangthem A, Phadke SR. Renpenning syndrome in an Indian patient. Am J Med Genet A. 2020 Feb;182(2):293-295. doi: 10.1002/ajmg.a.61457. Epub 2019 Dec 16. PubMed PMID: 31840915.

2. Girisha KM, Bhavani GS, Shah H, Moirangthem A, Shukla A, Kim OH, Nishimura G, Mortier GR. Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies. Am J Med Genet A. 2020 Feb;182(2):338-347. doi: 10.1002/ajmg.a.61414. Epub 2019 Nov 22. PubMed PMID: 31755234.

3. Moirangthem A, Mandal K, Ghosh A, Phadke SR. Vici Syndrome with a Novel Mutation in EPG5. Indian Pediatr. 2019 Jul 15;56(7):603-605. PubMed PMID: 31333218.

4. Moirangthem A, Narayanan DL, Jacob P, Nishimura G, Mortier G, Girisha KM. Report of second case and clinical and molecular characterization of Eiken syndrome. Clin Genet. 2018 Nov;94(5):457-460.

5. Radhakrishnan P, Moirangthem A, Nayak SS, Shukla A, Mathew M, Girisha KM. Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV. Clin Dysmorphol. 2019 Jan;28(1):17-21. doi: 10.1097/MCD.0000000000000248. PubMed PMID: 30303820.

6. Moirangthem A, Phadke SR. Socio-demographic Profile and Economic Burden of Treatment of Transfusion Dependent Thalassemia. Indian J Pediatr. 2018 Feb;85(2):102-107. doi: 10.1007/s12098-017-2478-y. Epub 2017 Nov 9. PubMed PMID: 29119463.

7. Moirangthem A, Tuteja Bhatia M, Srivastava P, Mandal K, Rai A, Phadke SR. Expansion of the phenotypic spectrum in three families of methyl CpG-binding protein 2 duplication syndrome. Clin Dysmorphol. 2017 Apr;26(2):73-77.

8. Narayanan DL, Pandey H, Moirangthem A, Mandal K, Gupta R, Puri RD, Patil SJ, Phadke SR. Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome. Indian Pediatr. 2017 Aug 15;54(8):638-643.

9. Amita M, Srivastava P, Agarwal D, Phadke SR Floating Harbor syndrome. Indian J Pediatr. 2016 Aug;83(8):896-7.

10. Amita M, Srivastava P, Mandal K, De S, Phadke SR. Fanconi-Bickel Syndrome: Another Novel Mutation in SLC2A2.. Indian J Pediatr. 2017 Mar;84(3):236-237.

11. Mandal K, Ray S, Saxena D, Srivastava P, Moirangthem A, Ranganath P, Gupta N, Mukhopadhyay S, Kabra M and Phadke S R. Pycnodysostosis: mutation spectrum in five unrelated Indian children. Clinical Dysmorphology 2016, 25:113–120

1. Sarkar MK, Tsoi LC, Xing X, Liang Y, Berthier CC, Swindell WR, Wolterink L, Patrick M, Hile GA, Tsou PS, Beamer MA, Srivastava A, Bielas SL, Liu J, Harms PW1, Getsios S, Johnston A, Elder JT, Voorhees JJ, Kahlenberg JM, Gudjonsson JE. Photosensitivity and type I IFN responses in cutaneous lupus are driven by epidermal derived interferon kappa. Ann. Rheum. Dis. 2018; 77(11): 1653-1664. IF: 12.3

2. Srivastava A, Srivastava K, Hebbar M, Galada C, Kadavigrere R, Cao Xuhong, Fengyun Su, Chinnaiyan AM, Girisha KM, Shukla A, Bielas SL. Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency. Eur J Hum Genet. 2018; 26(11): 1582-1587. IF: 4.3

3. Moccia A, Srivastava A, Skidmore JM, Bernat JA, Wheeler M, Chong JX, Nickerson D, Bamshad M, Hefner MA, Martin DM, Bielas SL. Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. Genet Med 2018; 20(9): 1022-1029. IF: 9.9

4. Bélanger C, Bérubé-Simard F, Leduc E, Bernas G, Campeau P, Lalani S, Martin D, Bielas S, Moccia A, Srivastava A, Silversides DW, Pilon N. Dysregulation of co-transcriptional alternative splicing underlies CHARGE syndrome. Proc Natl Acad Sci 2018; 115(4): E620-E629. IF: 9.6

5. Jordan V, Fregeau B, Jessica G, Wapner J, Balci TB, Carter M, Bernat J, Moccia A, Srivastava A, Martin D, Bielas S, Pappas J, S Melissa, Rio M, Cantagrel V, Lewis AM, Scaglia F, Kohler J, Bernstein JA, Zornio PA, Rosenfeld JA, Sherr EH, Bi W, Scott DA. Genotype-phenotype correlations in individuals with RERE mutations. Hum Mutat 2018; 39(5): 666-675. IF: 5.1

6. Galada C, Hebbar M, Lewis L, Soans S, Kadavigere R, Srivastava A, Bielas S, Girisha KM, Shukla A. Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature. Congenit Anom (Kyoto). 2018; 58(5): 181-182. IF: 1.6

7. Hebbar M, Girisha KM, Srivastava A, Bielas S, Shukla A. Homozygous c.359del variant in

i. MGME1 is associated with early onset cerebellar ataxia. Eur J Med Genet. 2017; 60(10): 533- ii. 535. IF: 2.0

8. Srivastava A, McGrath B, Bielas SL. Role of Histone H2A ubiquitination in Neurodevelopmental Disorders. Trends Genet. 2017; 33(8): 566-578. IF: 10.8

9. Shukla A, Hebbar M, Srivastava A, Kadavigere R, Upadhyai P, Kanthi A, Brandau O, Bielas SL, Girisha KM. Homozygous c.259G>A variant in ISCA1 is associated with a new multiple mitochondrial dysfunctions syndrome. J Hum Genet. 2017; 62(7): 723-727. IF: 3.5

10. Srivastava A, KC Ritesh, Tsan YC, Liao R, Hannibal M, Keegan C, Chinnaiyan AM, Martin DM, Bielas SL. De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers Syndrome. Hum Mol Genet. 2016; 25(3): 597-608. IF: 5.5

11. Kc R, Srivastava A, Wilkowski JM, Richter CE, Shavit JA, Burke DT, Bielas SL. Detection of nucleotide-specific CRISPR/Cas9 modified alleles using multiplex ligation detection. Sci Rep. 2016; 25 (6): 32048. IF: 4.5

12. Kumar S, Mishra A, Srivastava A, Bhatt M, Garg N, Agarwal SK, Pande S, Mittal B. Role of common sarcomeric gene polymorphisms in genetic susceptibility to left ventricular dysfunction. J Genet. 2016; 95(2): 263-72. IF: 1.1

13. Moorthy N, Garg N, Kapoor A, Tewari S, Kumar S, Sinha A, Shrivastava A, Goel PK. In Reply– Time to Focus on Preventing Coronary Artery Disease Through Exercise Training Among Normoglycemic Individuals. Mayo Clin Proc. 2015; 90(3): 418-9. IF: 7.0

14. Kumar S, Mishra A, Srivastava A, Mittal T, Garg N, Mittal B. Significant role of ADRB3 rs4994 towards development of coronary artery disease. Coron Artery Dis. 2014; 25(1): 29-34. IF: 1.8

15. Sharma KL, Rai R, Srivastava A, Sharma A, Misra S, Kumar A, Mittal B. A multigenic approach to evaluate genetic variants of PLCE1, LXRs, MMPs, TIMPs and CYP genes in gallbladder cancer predisposition. Tumor Biol. 2014; 35(9): 8597-606. IF: 3.6

16. Mishra A, Srivastava A, Mittal T, Garg N, Mittal B. Genetic predisposition to left ventricular dysfunction: a multigenic and multi-analytical approach. Gene. 2014; 546(2): 309-17. IF: 2.6

17. Garg N, Moorthy N, Kapoor A, Tewari S, Kumar S, Sinha A, Shrivastava A, Goel PK. Hemoglobin A(1c) in nondiabetic patients: an independent predictor of coronary artery disease and its severity. Mayo Clin Proc. 2014; 89(7): 908-16. IF: 7.0

18. Von Kampen O, Buch S, Nothnagel M, Azocar L, Molina H, Brosch M, Erhart W, von Schonfels, Egberts J, Seeger M, Arlt A, Balschun T, Franke A, Lerch MM, Mayerle J, Kratzer W, Boehm BO, Huse K, Schniewind B, Tiemann K, Jiang ZY, Han TQ, Mittal B, Srivastava A, Fenger M, Jørgensen T, Schirin-Sokhan R, Tönjes A, Wittenburg H, Stumvoll M, Kalthoff H, Lammert F, Tepel J, Puschel K, Becker T, Schreiber S, Platzer M, Völzke H, Krawczak M, Miquel JF, Schafmayer C, Hampe J. Genetic and functional identification of the likely causative variant for gallstone disease at the ABCG5/8 lithogenic locus. Hepatology. 2013; 57(6): 2407-17. IF: 14.9

19. Srivastava A, Mishra A, Singh R, Rai R, Srivastava N, Mittal B. Multi-analytic approach elucidates significant role of hormonal and hepatocanalicular transporter genetic variants in gallstone disease in north Indian population. PLoS One. 2013; 8(4): e59173. IF: 2.8

20. Mishra A, Srivastava A, Mittal T, Garg N, Mittal B. Role of inflammatory gene polymorphisms in LVD susceptibility in CAD patients. Cytokine. 2013; 61(3): 856-61. IF: 3.1

21. Mishra A, Srivastava A, Mittal T, Garg N, Mittal B. Role of Angiotensin II type I (AT1) Receptor Polymorphism in Left Ventricular Dysfunction. Indian Heart J 2015; 67(3): 214-21. IF: 0.6

22. Srivastava A, Sharma KL, Srivastava N, Mishra S, Mittal B. Significant role of Estrogen and Progesterone receptor sequence variants in Gallbladder Cancer predisposition: A Multi-analytical strategy. PLoS One. 2012; 7(7): e40162. IF: 2.8

23. Mishra A, Srivastava A, Mittal T, Garg N, Mittal B Impact of renin angiotensin-aldosterone system gene polymorphisms on left ventricular dysfunction in coronary artery disease patients.

i. Dis Markers. 2012; 32(1): 33- 41. IF: 2.8

24. Mishra A, Srivastava A, Mittal T, Garg N, Mittal B. Association of matrix metalloproteinases (MMP2, MMP7 and MMP9) genetic variants with left ventricular dysfunction in coronary artery disease patients. Clin Chim Acta. 2012; 413(19-20): 1668-74. IF: 2.9

25. Srivastava A, Srivastava A, Srivastava N, Choudhuri G, Mittal B. Organic anion transporter 1B1 (SLCO1B1) polymorphism and gallstone formation: High incidence of Exon4 CA genotype in female patients in North India. Hepatol Res. 2011; 41(1): 71-8. IF: 3.4

26. Srivastava A, Garg N, Mittal T, Khanna R, Gupta S, Seth PK, Mittal B Association of 25 bp deletion in MYBPC3 gene with left ventricle dysfunction in coronary artery disease patients. PLoS One. 2011; 6(9): e24123. IF: 2.8

27. Srivastava A, Garg N, Srivastava A, Srivastava K, Mittal B. Effect of genetic variant (rs11887534) in ABCG8 gene in coronary artery disease and response to atorvastatin therapy. Dis Markers. 2010; 28(5): 307-13. IF: 2.8

28. Srivastava A, Srivastava A, Srivastava K, Choudhuri G, Mittal B. Role of ABCG8 D19H 29. (rs11887534) variant in gallstone susceptibility in northern India. J Gastroenterol Hepatol. 2010; 25(11): 1758-62. IF: 3.6 (Best-highlighted article by the editor).

BOOK CHAPTERS

31. 32. Mittal B, Mishra A, Srivastava A, Garg N. Emerging Role of Genetic Variants of Matrix Metalloproteinases Genes in Left Ventricular Dysfunction. In: Dhalla N., Chakraborti S. (eds) Role of Proteases in Cellular Dysfunction. Advances in Biochemistry in Health and Disease, 2014; vol 8. Springer, New York, NY

33. Mittal B, Mishra A, Srivastava A, Kumar S, Garg N. Matrix metalloproteinase in coronary artery disease. Adv Clin Chem. 2014; 64:1-72

FELLOWSHIP AND AWARDS

34. Ramalingaswami Fellow, Department of Biotechnology (DBT), Govt. of India

35. Innovative Young Biotechnologist Award (IYBA), DBT, Govt. of India

36. Best Postdoctoral Poster award (2017) in the Department of Human Genetics, University of Michigan Medical School. Awarded to one postdoctoral fellow in the department at yearly retreat. Awardee receives a cash prize.

37. Awarded Senior Research Fellowship from Indian Council of Medical Research.

38. Travel Grant from several funding agencies namely DST, DBT, CSIR and ICMR, India to attend the 12th International Congress of Human Genetics, October 11-15, 2011, Montreal, Canada.

39. Best Poster Award at 35th Annual Conference of the Indian Society of Human Genetics (ISHG) & an International Symposium on Role of Genomics in Clinical Practice 2010, Lucknow, India.

40. Qualified in Graduate Aptitude Test in Engineering (GATE) 2008, conducted by Govt. of India.

41. Stood 1st in quiz competition on CSIR foundation day at CDRI, September 2004