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Dr. Ashwin Dalal
Diagnostics Group
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  1. Knapp KM, Fellows B, Aggarwal S, Dalal A, Bicknell LS. A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis. Eur J Med Genet. 2021 Feb 25;64(4):104182.

  2. Gupta A, Sabarinathan R, Bala P, Donipadi V, Vashisht D, Katika MR, Kandakatla M, Mitra D, Dalal A, Bashyam MD. A comprehensive profile of genomic variations in the SARS-CoV-2 isolates from the state of Telangana, India. J Gen Virol. 2021 Feb 15.

  3. Kausthubham N, Shukla A, Gupta N, Bhavani GS, Kulshrestha S, Das Bhowmik A, Moirangthem A, Bijarnia-Mahay S, Kabra M, Puri RD, Mandal K, Verma IC, Bielas SL, Phadke SR, Dalal A, Girisha KM. A dataset of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians. Hum Mutat. 2021 Jan 27.


  1. Nampoothiri S, Yesodharan D, Bhattacherjee A, Ahamed H, Puri RD, Gupta N, Kabra M, Ranganath P, Bhat M, Phadke S, Radha Rama Devi A, Jagadeesh S, Danda S, Sylaja PN, Mandal K, Bijarnia-Mahay S, Makkar R, Verma IC, Dalal A, Ramaswami U. Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients. JIMD Rep. 2020 Aug 15;56(1):82-94

  2. Komaravalli PL, Rani S V, Dalal A, Jahan P. Association analysis of FMR1 genetic variants and primary ovarian insufficiency in South Indian women with a novel approach of CGG repeats classification. Eur J Med Genet. 2020 Dec;63(12):104081.

  3. Girisha KM, Pande S, Dalal A, Phadke SR. Untapped opportunities for rare disease gene discovery in India. Am J Med Genet A. 2020 Dec;182(12):3056-3059.

  4. Dutta UR, Suttur MS, Venugopal VS, Posanapally LP, Gopalasetty S, Talwar S, Anand S, Billapati S, Jesudasan RA, Dalal A. Cytogenetic and molecular study of 370 infertile men in South India highlighting the importance of copy number variations by multiplex ligation-dependent probe amplification. Andrologia. 2020 Aug 13:e13761.

  5. Shetty K, Sarma AS, Devan M, Dalal A, Dash GK, Jannabhatla A, Patil SJ. Recurrent ADCY5 Mutation in Mosaic Form with Nocturnal Paroxysmal Dyskinesias and Video Electroencephalography Documentation of Dramatic Response to Caffeine Treatment. J Mov Disord. 2020 Aug;13(3):238-240.

  6. Pasumarthi D, Gupta N, Sheth J, Jain SJMN, Rungsung I, Kabra M, Ranganath P, Aggarwal S, Phadke SR, Girisha KM, Shukla A, Datar C, Verma IC, Puri RD, Bhavsar R, Mistry M, Sankar VH, Gowrishankar K, Agrawal D, Nair M, Danda S, Soni JP, Dalal A. Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III. J Hum Genet. 2020 Nov;65(11):971-984.

  7. Ranganath P, Perala S, Nair L, Pamu PK, Shankar A, Murugan S, Dalal A. A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4. Eur J Hum Genet. 2020 May;28(5):669-673.

  8. 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.

  9. Aggarwal S, Vineeth VS, Das Bhowmik A, Tandon A, Kulkarni A, Narayanan DL, Bhattacherjee A, Dalal A. Exome sequencing for perinatal phenotypes: The significance of deep phenotyping. Prenat Diagn. 2020 Jan;40(2):260-273.


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

  2. Tyagi R, Kumar S, Dalal A, Mohammed F, Mohanty M, Kaur P, Anand A. Repurposing Pathogenic Variants of DMD Gene and its Isoforms for DMD Exon Skipping Intervention. Curr Genomics. 2019 Nov;20(7):519-530.

  3. Vignesh P, Sharma M, Pilania RK, Shandilya JK, Kaur A, Goel S, Kaur A, Suri D, Rawat A, Dalal A, Sarma AS, Singh S. Myriad Faces of Chronic Granulomatous Disease: All in an Indian Family with Novel CYBB Defect. J Clin Immunol. 2019 Aug;39(6):611-615.

  4. Tallapaka K, Ranganath P, Ramachandran A, Uppin MS, Perala S, Aggarwal S, Lakshmi D, Meena AK, Dalal AB. Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India. Indian Pediatr. 2019 Jul 15;56(7):556-559.

  5. Narayanan DL, Ranganath P, Balakrishnan S, Dalal A. Mosaic paternal uniparental isodisomy of 15q11-q13 region causing Angelman phenotype. Clin Dysmorphol. 2019 Oct;28(4):202-204.

  6. Tallapaka K, Aggarwal S, Bhattacherjee A, Das Bhowmik A, Dalal A. Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned? Mol Syndromol. 2019 May;10(3):177-182.

  7. Dutta UR, Swamy V, Ponnala R, Aggarwal S, Dalal A. Determining the Cause of Recurrent Miscarriages in a Couple: Importance of NOR in the Era of NGS. J Reprod Infertil. 2019 Apr-Jun;20(2):109-114.

  8. Sheth J, Bhavsar R, Mistri M, Pancholi D, Bavdekar A, Dalal A, Ranganath P, Girisha KM, Shukla A, Phadke S, Puri R, Panigrahi I, Kaur A, Muranjan M, Goyal M, Ramadevi R, Shah R, Nampoothiri S, Danda S, Datar C, Kapoor S, Bhatwadekar S, Sheth F. Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation. BMC Med Genet. 2019 Feb 14;20(1):31.

  9. 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.

  10. Vineeth VS, Das Bhowmik A, Balakrishnan S, Dalal A, Aggarwal S. Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. J Hum Genet. 2019 Feb;64(2):183-189.


  1. Vineeth VS, Dutta UR, Tallapaka K, Das Bhowmik A, Dalal A (2018). Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures. Gene 673, 56-60.

  2. Das Bhowmik A, Dalal A, Tandon A, Aggarwal S (2018). Exome sequencing identifies novel ACE splice-site variant in a fetus with renal tubular dysgenesis. Journal of Obstetrics and Gynaecology Research doi: 10.1111/jog.13771 [Epub ahead of print].

  3. Dutta UR, Rao SN, Pidugu VK, Vineeth VS, Bhattacherjee A, Bhowmik AD, Ramaswamy SK, Singh KG, Dalal A (2018). Breakpoint mapping of a novel de novo translocation t(X;20)(q11.1;p13) by positional cloning and long read sequencing. Genomics doi: 10.1016/j.ygeno.2018.07.005 [Epub ahead of print].

  4. Das Bhowmik A, Patil SJ, Deshpande DV, Bhat V, Dalal A (2018). Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79. Journal of Human Genetics doi: 10.1038/s10038-018-0463-6, [Epub ahead of print].

  5. Aggarwal S, Das Bhowmik A, Tandon A, Dalal A (2018). Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus. European Journal of Medical Genetics doi: 10.1016/j.ejmg.2018.02.009, [Epub ahead of print].

  6. Patil SJ, Das Bhowmik A, Bhat V, Satidevi Vineeth V, Vasudevamurthy R, Dalal A (2018). Autosomal Recessive Otofaciocervical syndrome type 2 With Novel Homozygous Small Insertion In PAX1 gene. American Journal of Medical Genetics Part A 176(5), 1200-1206.

  7. Aggarwal S, Tandon A, Das Bhowmik A, Safarulla JMNJ, Dalal A (2018). A dysmorphology based systematic approach towards perinatal genetic diagnosis in a fetal autopsy series. Fetal & Pediatric Pathology 37(1), 49-68.

  8. Godbole KG, Ramachandran A, Karkamkar AS, Dalal A (2018). Compound Heterozygosity for Hb Alperton (HBB: c.407C>T) and IVS-I-5 (G>C) (HBB: c.92+5G>C) Mutations Presenting as a Moderate Anemia in an Indian Family. Hemoglobin. doi: 10.1080/03630269.2018.1450754. [Epub ahead of print].

  9. Nagarajan K, Swamiappan E, Anbazhagan S, Dalal A, Adithan S, Krings T (2018). "Twig-like" cerebral vessels are not pathognomonic for ACTA A2 mutations: A case report. Interventional Neuroradiology doi: 10.1177/1591019918765239. [Epub ahead of print].

  10. Tallapaka K, Venugopal V, Dalal A, Aggarwal S (2018). Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype. American Journal of Medical Genetics Part A American Journal of Medical Genetics Part A 176(4), 1006-1010.

  11. Gaucher Disease Task Force, Puri RD, Kapoor S, Kishnani PS, Dalal A, Gupta N, Muranjan M, Phadke SR, Sachdeva A, Verma IC, Mistry PK (2018). 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 Pediatrics 55(2), 143-153.

  12. Kar A, Phadke SR, Das Bhowmik A, Dalal A (2018). Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly. American Journal of Medical Genetics Part A 176(1), 34-40.

  13. Narayanan DL, Deshpande D, Das Bhowmik A, Varma DR, Dalal A 2018). Familial choreoathetosis due to novel heterozygous mutation in PDE10A. American Journal of Medical Genetics Part A 176(1), 146-150.

  14. Das Bhowmik A, Salem Ramakumaran V, Dalal A (2018). Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation. American Journal of Medical Genetics Part A 176(1), 219-224.


  1. Aggarwal S, Tandon A, Das Bhowmik A, Jain SJ, Dalal A.Autopsy findings in EPG5-related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus. American Journal of Medical Genetics Part A 2017 Dec 11. doi: 10.1002/ajmg.a.38575.

  2. Shukla A, Das Bhowmik A, Hebbar M, Rajagopal KV, Girisha KM, Gupta N, Dalal A. Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures and spastic quadriparesis. Journal of Human Genetics 2017 Nov 16. doi: 10.1038/s10038-017-0363-1.

  3. Das Bhowmik A, Tallapaka KB, MeghaHarke, Dalal A. Targeted next generation sequencing reveals novel splice site mutations in COL6A3 gene in a patient with congenital muscular dystrophy. Neurology India. 2017, (accepted).

  4. Das Bhowmik A, Dalal A. Exome Data Analysis for Clinicians: How & Why (2017). Genetic Clinics 10(2), 5-10.

  5. Tallapaka KB, Ranganath P, Dalal A. Variable Expressivity and Response to Bisphosphonate Therapy in a Family with Osteoporosis Pseudoglioma Syndrome (2017). Indian Pediatrics 54(8), 681-683.

  6. Francis F, Bhat V, Balachander B, Khare C, Bethou A, Dalal A, Ponnala R (2017). Look Up to Diagnose Down! Indian Journal of Pediatrics . 84(12), 961-962.

  7. Uttarilli A, Pasumarthi D, Ranganath P, Dalal AB. Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Gene. 2017 Jan 30;599:19-27.

  8. Harms FL, Girisha KM, Hardigan AA, Kortüm F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird LM, Ceulemans S, Bebin M, Bowling KM, Hiatt SM, Lose EJ, Primiano M, Chung WK, Juusola J, Akdemir ZC, Bainbridge M, Charng WL, Drummond-Borg M, Eldomery MK, El-Hattab AW, Saleh MA, Bézieau S, Cogné B, Isidor B, Küry S, Lupski JR, Myers RM, Cooper GM, Kutsche K. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. Am J Hum Genet. 2017 Jan 5;100(1):117-127.

  9. Das Bhowmik A, Gupta N, Dalal A, Kabra M. Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity. Obes Res Clin Pract. 2017 Mar - Apr;11(2):241-246.

  10. Alber M, Kalscheuer VM, Marco E, Sherr E, Lesca G, Till M, Gradek G, Wiesener A, Korenke C, Mercier S, Becker F, Yamamoto T, Scherer SW, Marshall CR, Walker S, Dutta UR, Dalal AB, Suckow V, Jamali P, Kahrizi K, Najmabadi H, Minassian BA. ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. Neurol Genet. 2017 May 26;3(3):e148.


  1. Deshpande R, Parthasarathy L, Dalal A, Khadilkar V, Khadilkar A (2016). Variability in the Manifestations and Evolution of Symptoms in a Patient with H Syndrome. Indian Journal of Pediatrics. 83(1):92-3. doi: 10.1007/s12098-015-1776-5.

  2. Bhowmik AD, Dalal A, Matta D, Sundaram C, Aggarwal S (2016). Targeted next generation sequencing identifies a novel deletion in LAMA2 gene in a merosin deficient congenital muscular dystrophy patient. Indian Journal of Pediatrics 83(4), 354-5.

  3. 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. American Journal of Medical Genetics A. 2016 Feb; 170(2):410-7.

  4. Aggarwal S, Bahal A, Dalal A. Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature. European Journal of Medical Genetics. 2016 Jan;59(1):5-10.

  5. Girisha KM, Kortüm F, Shah H, Alawi M, Dalal A, Bhavani GS, Kutsche K. A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. European Journal of Human Genetics. 2016

  6. Phadke SR, Kar A, Bhowmik AD, Dalal A. Complex Camptosynpolydactyly and Mesoaxial Synostotic Syndactyly with Phalangeal Reduction are allelic disorders. American Journal of Medical Genetics Part A. 2016 Apr 4

  7. Aggarwal S, Das Bhowmik A, Ramprasad VL, Murugan S, Dalal A. A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum. American Journal of Medical Genetics Part A 2016 Apr 25

  8. Uttarilli A, Ranganath P, Matta D, Md Nurul Jain J, Prasad C K, Babu A S, Girisha KM, Verma IC, Phadke SR, Mandal K, Puri RD, Aggarwal S, Danda S, H SV, Kapoor S, Bhat M, Gowrishankar K, Hasan AQ, Nair M, Nampoothiri S, Dalal A. Identification and Characterization of 20 Novel Pathogenic Variants in 60 unrelated Indian patients with Mucopolysaccharidoses (MPS) type I and type II. Clin Genet. 2016 May 5. doi: 10.1111/cge.12795

  9. Dalal A. Dental stem cells: Hope or hype? Indian J Dent Res 2016 Mar-Apr;27(2):113-4

  10. Chaudhary AK, Mohapatra R, Nagarajaram HA, Ranganath P, Dalal A, Dutta A, Danda S, Girisha KM, Bashyam MD. The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia. J Eur Acad Dermatol Venereol. 2016 May 11. doi: 10.1111/jdv.13587.

  11. 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. Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. Am J Med Genet A. 2016 Oct;170(10):2719-30.

  12. Hebbar M, Prasada L H, Bhowmik AD, Trujillano D, Shukla A, Chakraborti S, Kandaswamy KK, Rolfs A, Kamath N, Dalal A, Bielas S, Girisha KM. Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C. Am J Med Genet A. 2016 Sep;170(9):2486-9.

  13. Patil DV, Phadke MS, Pahwa JS, Dalal AB. Brothers with constrictive pericarditis - A novel mutation in a rare disease. Indian Heart J. 2016 Sep;68 Suppl 2:S284-S287

  14. Das Bhowmik A, Dalal A, Matta D, Kandadai RM, Kannan M, Aggarwal S. Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing. Neuromuscular Disorders 2016 Nov 26;(11), 809-814.

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

  16. Das Bhowmik A, Gupta N, Dalal A, Kabra M (2016). Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity. Obesity Research & Clinical Practice DOI: 10.1016/j.orcp.2016.09.004 (in press).

  17. Usha R Dutta (2016). The History of Human Cytogenetics in India- A Review. GENE. doi: 10.1016/j.gene.2016.01.052 (In press).


  1. Gupta N, Benjamin M, Kar A, Munjal SD, Sarangi AN, Dalal A, Aggarwal (2015). Identification of Promotor and Exonic Variations, and Functional Characterization of a Splice Site Mutation in Indian Patients with Unconjugated Hyperbilirubinemia. PLoS 10(12):e0145967. doi: 10.1371/journal.pone.0145967.

  2. Bhavani GSL, Shah H, Shukla A, Dalal A, Girisha KM.In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K (2015). Progressive Pseudorheumatoid Dysplasia. Editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.

  3. 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 (2015). Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. Indian J Med Res. 142(4):414-25. doi: 10.4103/0971-5916.169201.

  4. 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 (2015). Novel and recurrent mutations in WISP3 and an atypical phenotype. American Journal of Medical Genetics A. 167A (10):2481-4. doi: 10.1002/ajmg.a.37164.

  5. Gupta A, Uttarilli A, Dalal A, Girisha KM (2015). Hunter syndrome with late age of presentation: clinical description of a case and review of the literature.BMJ Case Rep. pii: bcr2015209305. doi: 10.1136/bcr-2015-209305.

  6. Das Bhowmik A, Dalal A (2015). Whole exome sequencing identifies a novel frameshift mutation in GPC3 gene in a patient with overgrowth syndrome. Gene DOI:10.1016/j.gene.2015.08.053 (in press)

  7. Aggarwal S, Mohamed Nurul Jain S,Das Bhowmik A, Tandon A, Dalal A (2015). Molecular studies on parents after autopsy identify recombinant GBA gene in a case of Gaucher Disease with Ichthyosis phenotype. Am J Med Genet Part A DOI: 10.1002/ajmg.a.37251 (in press)

  8. Bhowmik AD, Dalal A, Matta D, Sundaram C, Aggarwal S (2015). Targeted next generation sequencing identifies a novel deletion in LAMA2 gene in a merosin deficient congenital muscular dystrophy patient. Indian J Pediatr DOI: 10.1007/s12098-015-1822-3 (in press)

  9. Das Bhowmik A, Rangaswamiah S, Srinivas G, Dalal A (2015). Molecular genetic analysis of Trinucleotide Repeat Disorders (TRDs) in Indian population and application of repeat primed PCR. Eur J Med Genet 58(3), 160-167

  10. Dalal A, Bhowmik AD, Agarwal D, Phadke SR (2015). Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family. Indian J Med Res 142(2), 220-224.

  11. Abdul Mueed Bidcho, Ashwin Dalal, Rakesh Trivedi, Anju Shukla, Sheela Nampoothiri, VH Sankar, Sumita Danda, Neerja Gupta, Madhulika Kabra, Shrikiran A Hebbar, Ramesh Y Bhat, Divya Matta, Alka V Ekbote, Ratna Dua Puri, Shubha R Phadke, Kalpana Gowrishankar, Shagun Aggarwal , Prajnya Ranganath, Sheetal Sharda, Mahesh Kamate, Chaitanya A Datar, Kamalakshi Bhat, Nutan Kamath, Puthiya Mundyat Gopinath, Ishwar C Verma, HA Nagarajaram, Kapaettu Satyamoorthy, Katta Mohan Girisha (2015) Recurrent and novel GLB1 mutations in India Gene (In Press)

  12. 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. Genetcs in Medicine. 2015 Jan;17(1):88. doi: 10.1038/gim.2014.149.

  13. 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.

  14. Das Bhowmik A, Rangaswamaiah S, Srinivas G, Dalal AB. Molecular genetic analysis of trinucleotide repeat disorders (TRDs) in Indian population and application of repeat primed PCR. Eur J Med Genet. 2014 Dec 19.

  15. Aggarwal S, Kar A, Bland P, Kelsell D, Dalal A. Novel ABCA12 mutations in harlequin ichthyosis: A journey from photo diagnosis to prenatal diagnosis. Gene. 2015 Feb 10;556(2):254-6.

  16. Usha R. Dutta, Ingo Hansmann, Dietmar Schlote. Molecular cytogenetic characterization of a familial pericentric inversion 3 associated with short stature. Eur J Med Genet. 2015 Jan 13. pii: S1769-7212(15)00004-X. doi: 10.1016/j.ejmg.2015.01.001. [Epub ahead of print]


  1. Usha R Dutta. Precision in chromosome identification with leads in Molecular Cytogenetics: An illustrated review. Journal of Pediatric Genetics 3(2014) 1-7. DOI 10.3233/PGE-14083.

  2. Abdul Mueed Bidchol, Ashwin Dalal, Hitesh Shah, Suryanarayana S, Sheela Nampoothiri, Madhulika Kabra, Neerja Gupta, Sumita Danda, Kalpana Gowrishankar, Shubha R Phadke, Seema Kapoor, Mahesh Kamate, IC Verma, Ratna Dua Puri, VH Sankar, A Radha Rama Devi, SJ Patil, Prajnya Ranganath, S Jamal Md Nurul Jain, Meenal Agarwal, Ankur Singh, Pallavi Mishra, Parag M Tamhankar, Puthiya Mundyat Gopinath, Nagarajaram HA, Kapaettu Satyamoorthy, Katta Mohan Girisha (2014) GALNS Mutations in Indian Patients with Mucopolysaccharidosis IVA Am J Med Genet Part A 164A:2793–2801

  3. Bashyam MD, Chaudhary AK, Sinha M, Nagarajaram HA, Ramadevi R, Ranganath P, Dalal A, Bashyam L, Gupta N, Kabra M, Muranjan M, Puri RD, Verma IC, Nampoothiri S, Kadandale JS. (2014) Splice, insertion-deletion and nonsense mutations that potentially perturb the Phenylalanine hydroxylase transcript are a major cause for phenylketonuria in India. Journal of Cellular Biochemistry 115(3):566-574.

  4. Dutta UR, Vempally S, Ranganath P, Dalal A. (2014) A novel combined 15q11.2 duplication and a bisatellited supernumerary marker derived from chromosome 22: Molecular characterization of the marker. Gene 539(1):162-167.

  5. Love JM, Prosser D, Love DR, Chintakindi KP, Dalal AB, Aggarwal S. (2014) A Novel Glycine Decarboxylase Gene Mutation in an Indian Family With Nonketotic Hyperglycinemia. Journal of Child Neurology 29(1):122-127.

  6. Stephen J, Shukla A, Dalal A, Girisha KM, Shah H, Gupta N, Kabra M, Dabadghao P, Phadke SR. (2014) Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. American Journal of Medical Genetics (In Press).

  7. Kantaputra PN, Kayserili H, Guven Y, Kantaputra W, Balci MC, Tanpaiboon P, Tananuvat N, Uttarilli A, Dalal A. (2014) Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations. American Journal of Medical Genetics. (In Press).

  8. Bashyam MD, Chaudhary AK, Kiran M, Reddy V, Nagarajaram HA, Dalal A, Bashyam L, Suri D, Gupta A, Gupta N, Kabra M, Puri R, Ramadevi R, Kapoor S, Danda S. (2014) Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation. Clinical Genetics (In Press).

  9. Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Matsumoto N, Makita Y, Fukuda M, Isidor B, Perrier J, Aggarwal S, Dalal AB, Al-Kindy A, Liebelt J, Mowat D, Nakashima M, Saitsu H, Miyake N, Matsumoto N. (2013) Coffin-Siris syndrome is a SWI/SNF complex disorder. Clinical Genetics (In Press).

  10. Aggarwal S, Coutinho MF, Dalal AB, Mohamed Nurul Jain SJ, Prata MJ, Alves S. (2014) Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation. Gene (In Press).

  11. Rajashree N, Phadke SR, Dalal AB, Ranganath P. (2013) Novel mutations in the PRG4 gene in two Indian families with the Camptodactyly- arthropathy- coxa vara- pericarditis syndrome. Indian Journal of Medical Research (In Press).

  12. Anusha U, Ranganath P, Md Nurul Jain SJ, Krishna Prasad C, Sinha A, Verma I C, Phadke SR, Puri RD, Danda S, Muranjan MN, Jevalikar G, Nagarajaram HA, Dalal AB. (2014) Novel mutations of the ARSB gene in Indian patients with Mucopolysaccharidosis Type VI. Indian Journal of Medical Research 142, 414-425.

  13. Usha R Dutta, Rajitha Ponnala, Ashwin Dalal. (2014) A novel de novo balanced reciprocal translocation t(18;22) associated with recurrent miscarriages: case report Journal of Reproduction and Infertility (In Press)


  1. Kantaputra PN, Kayserili H, Gü, Kantaputra W, Balci MC, Tanpaiboon P, Uttarilli A, Dalal A. (2013) Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI. Journal of Inherited Metabolic Diseases 37(2): 263-268.

  2. Dutta UR, Pidugu VK, Goud ChV, Hoefers C, Hagemann M, Dalal A. (2013) Identification and molecular cytogenetic characterization of a novel complex Y chromosome rearrangement in a boy with disorder of sexual development. Gene 519(2): 374-380.

  3. Aggarwal S, Uttarilli A, Dalal AB. (2013) GAPO syndrome with deafness: new feature or incidental finding? Clinical Dysmorphology 22(4): 161-163.

  4. Ranganath P, Dalal AB.(2013) Congenital metacarpal pseudoarthrosis, cleft palate, short stature, advanced bone age, and genu valgum: a new syndrome or a variant of Devriendt syndrome? Clinical Dysmorphology 22(2): 73-75.

  5. Kesari A, Dalal A, Lal G, Pandey SN. (2013) Molecular diagnostics. BioMed Research International 2013:387486.

  6. Dutta UR, Rajitha P, Pidugu VK, Dalal AB. (2013) Partial proximal trisomy 14: Identification and Molecular Characterization in a girl with global developmental delay. Genetic Counseling 24(2): 207-216.

  7. Muthugaduru DJ, Sahu C, Ali MJ, Dalal A, Jalali S. (2013) Report on ocular biometry of microphthalmos, retinal dystrophy, flash electroretinography, ocular coherence tomography, genetic analysis and the surgical challenge of entropion correction in a rare case of Hallermann-Streiff-Francois syndrome. Documenta Ophthalmologica 127(2):147-153.

  8. Dutta UR, Rajitha P, Pidugu VK, Dalal AB. (2013) Chromosomal Abnormalities in Amenorrhea: A Retrospective Study and Review of 637 Patients in South India. Archives of Iranian Medicine 16(5):267-270.

  9. Muthuswamy S, Agarwal S, Dalal A. (2013) Diagnosis and Genetic Counseling for Friedreich's Ataxia: A time for consideration of TP-PCR in an Indian Setup. Hippokratia 17(1): 38-41.


  1. Vijaya kumar Pidugu and Usha R Dutta (2012): Fluorescence in .situ Hybridization: Technology and its application in Molecular Medicine. Journal of Cytology and Genetics, 13, 1-8.

  2. Usha R Dutta, Vijaya kumar P, Ashwin B Dalal. (2012): Molecular and Cytogenetic Characterization of Two Patients with Recurrent miscarriages and X-Autosome Translocation. Journal of Research in Medical Sciences 17; 572-4.

  3. Vineeth VS, Suttur S Malini, Sreenivasa G, Usha R Dutta.(2012): High incidence of sperm dysfunction in a varicocele infertile man: case report. Asia Pacific Journal of Reproduction. vol (1), Number 1, March; 61- 64

  4. Aneja A, Sharma A, Dalal A, Sondhi V. R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease. BMJ Case Rep. 2012 Nov 27;2012. doi:pii: bcr2012006959. 10.1136/bcr-2012-006959.

  5. 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. Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia. Am J Med Genet A. 2012 Nov;158A(11):2820-8.

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

  7. Verma PK, Ranganath P, Dalal AB, Phadke SR. Spectrum of Lysosomal Storage Disorders at a Medical Genetics Center in North India. Indian Pediatr. 2012 Oct;49(10):799-804.

  8. Bashyam MD, Chaudhary AK, Manjari S, Nagarajaram HA, Devi AR, Bashyam L, Reddy EC, Dalal A. Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β. J Cell Biochem 2012;113(10):3122-32.

  9. Patil SJ, Bhat V, Dalal A, Santosh JS. Confirmation of the Zechi-Ceide syndrome. Am J Med Genet A. 2012;158A(6):1467-71

  10. Angalena R, Aggarwal S, Phadke SR, Dalal A. Compound heterozygote condition in beta thalassemia major due to a novel single nucleotide deletion (-T) at codon 69 in association with IVS 1-5 (G>C) mutation. Int J Lab Hematol. 2012 Mar 12 [Epub ahead of print].

  11. Ponnala R, Ranganath P, Dutta UR, Pidugu VK, Dalal AB. Phenotypic and molecular characterization of partial trisomy 2q resulting from insertion-duplication in chromosome 18q: a case report and review of literature. Cytogenet Genome Res. 2012;136(3):229-34.

  12. Usha R. Dutta , Vijaya Kumar Pidugu, Venkatesh Goud, Ashwin B.Dalal Mosaic Down syndrome with a marker: Molecular cytogenetic characterization of the marker chromosome.Gene 2012 Mar 10;495(2):199-204.

  13. Patil SJ, Ponnala R, Shah S, Dalal A.Mosaic Trisomy 9 Presenting with Congenital Heart Disease, Facial Dysmorphism and Pigmentary Skin Lesions: Intricate Issues of Genetic Counseling. Indian J Pediatr 2012;79(6):806-9.

  14. Padma Priya T, Dalal AB. Tuberous Sclerosis: Diagnosis and Prenatal Diagnosis by MLPA. Indian J Pediatr 2012;79(10):1366-9.

  15. M D Bashyam, A K Chaudhary, E C Reddy, V Reddy, V Acharya, H A Nagarajaram, A R R Devi, L Bashyam, A B Dalal, N Gupta, M Kabra, M Agarwal, S R Phadke, R Tainwala, R Kumar, S V Hariharan (2011). An Ectodysplasin A receptor (EDAR) founder mutation results in a high frequency of the autosomal recessive form of Hypohidrotic Ectodermal Dysplasia in India. Br J Dermatol 2012;166(4):819-29

  16. Kumar R, Panigrahi I, Dalal A, Agarwal S. Sickle Cell Anemia-Molecular Diagnosis and Prenatal Counseling: SGPGI Experience. Indian J Pediatr. 2012;79(1):68-74.


  1. Usha R Dutta, Rajitha P, Vijaya kumar P, Ashwin B Dalal. (2011): Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in southern region of India: report and review. Journal of Assisted Reproduction and Genetics (2) 28: 145- 148. http://www.ncbi.nlm.nih.gov/pubmed/20931274

  2. Usha R Dutta, Rajitha P, Vijaya kumar P, Ashwin B Dalal. (2011): Molecular Cytogenetics Illustrated: SKY and FISH Usha R Dutta, Vijaya Kumar Pidugu, Ashwin B Dalal, Newsletter of Genetics Chapter of Indian Academy of Pediatrics, Vol 4, Issue 1 (Jan-Mar 2011).

  3. Ponnala R, Dalal A. Partial monosomy 7q. Indian Pediatr. 2011 May 7;48(5):399-401

  4. Suttur S, Malini, Vijaya Kumar Pidugu, Ashwin B. Dalal,, Usha R Dutta. Evaluation of sex chromosomal anomalies in sperms among infertile males by Fluorescence in situ Hybridization. Journal of Cytology & Genetics, vol 12 (NS) 77-84(2011)

  5. A Radha Rama Devi, Usha R Dutta. (2012): Ring chromosome 20 associated with refractory epilepsy: case report. Asian Journal of Medical Sciences 2(2011) 141-144.


  1. Dalal AB, Sarkar A, Priya TP, Nandineni MR. Giuffr-Tsukahara syndrome: Evidence for X-linked dominant inheritance and review. Am J Med Genet A. 2010;152A(8):2057-60.

  2. Priya TP, Philip N, Molho-Pessach V, Busa T, Dalal A, Zlotogorski A. H syndrome: novel and recurrent mutations in SLC29A3. Br J Dermatol. 2010;162(5):1132-4.

  3. Agarwal S, Tamhankar PM, Kumar R, Dalal A. Clinical and haematological features in a compound heterozygote (HBB:c.92 + 5G > C/HBB:c.93-2A > C) case of thalassaemia major. Int J Lab Hematol. 2010;32(3):369-72.

  4. Girisha KM, Vahab SA, Dalal AB, Gopinath PM, Satyamoorthy K. Compound heterozygosity for HbD Punjab and polyadenylation signal mutation causes clinically asymptomatic mild hypochromia and microcytosis. Ann Hematol. 2010;89(6):625-6.

  5. Padma Priya T, Ashwin Dalal. Triplet Primed PCR (TP-PCR) A Versatile Method For Molecular Diagnosis Of Triplet Repeat Disorders. Newsletter of Genetics Chapter of Indian Academy of Pediatrics, Vol 3, Issue 3 (July-Sept 2010)

  6. Angalena R, Prabitha KN, Chaudhary AK, Bashyam MD, Jain S, Dalal AB. A novel homozygous point mutation at codon 82 (HBB:c.247A > T)) in the beta-globin gene leads to thalassemia major. Int J Lab Hematol. 2010 Oct;32(5):548-549


  1. Kumar R, Tamhankar PM, Panigrahi I, Dalal A, Agarwal S. A novel beta-globin mutation (HBB:c.107A>G; or codon 35 beta (A-->G)) at alpha-beta chain interfaces. Ann Hematol. 2009 ;88(12):1269-71.

  2. Ashwin Dalal. Stem cell therapy:Current status. Newsletter of Genetics Chapter of Indian Academy of Pediatrics, Vol 2, Issue 2 (Apr-Jun 2009)

  3. Vinukonda Govindaiah, Shaik Mohammad Naushad, Krishnamurthy Prabhakara, Prasad Chintakindi Krishna, Akella Radha Rama Devi. Association of parental hyperhomocysteinemia and C677T Methylenetetrahydrofolate reductase (MTHFR) polymorphism with recurrent pregnancy loss. Clinical Biochemistry 42 (2009) 380-386

  4. Govindaiah Vinukonda, Naushad Shaik Mohammad, Jamal Md Nurul Jain, Krishna Prasad Chintakindi, Radha Rama Devi Akella. Genetic and environmental influences on total plasma homocysteine and coronary artery disease (CAD) risk among South Indians. Clinical Chimica Acta 405 (2009) 127-131

  5. Angalena R, Ajay Chaudhary, Murali D Bashyam, Ashwin Dalal. Hemoglobin D (Iran) masquerading as Hemoglobin E: An interesting case report. Newsletter of Genetics Chapter of Indian Academy of Pediatrics, Vol 2, Issue 1 (Jan-Mar 2009)

  6. Hypertrichosis, hyperkeratosis and mental retardation syndrome: further delineation of phenotype.Link. Dalal A, Mehrotra RN. Clin Dysmorphol. 2009 Apr;18(2):83-4.

  7. Jä RüOD Usha Dutta, Dorothea Wand, Dietmar Schlote, Ingo Hansmann. (2009): The 9p24.3 breakpoint of a constitutional t(6;9)(p12;p24) presenting in a patient with chronic lymphocytic leukemia maps close to the putative promoter region of DMRT2 gene. Cytogenetic and Genome Research 125:81-86.


  1. Pradhan Mandakini, Dalal Ashwin B, Kapoor Aditya, Kumar Sudeep, Manisha R. Fetal left ventricular diverticulum presenting as dysrhythmia: diagnosis and management. Fetal Diagnosis and Therapy 2007;23(1):10-14.

  2. Phadke Shubha R, Dalal Ashwin B Short stature with absent carpals and joint contractures - a new syndrome. Clinical Dysmorphology 2007;16(1):55-57.

  3. Dalal Ashwin B, Phadke Shubha R. Morphometric analysis of face in dysmorphology. Computer programs and methods in biomedicine 2007; 85(2):165-7.


  1. Ashwin Dalal, Shubha R Phadke. Twin pregnancy with Roberts syndrome in one fetus and trisomy 18 in other. Journal of Clinical Ultrasound 2006; 34(3): 146-149.

  2. Mandakini Pradhan, Ashwin Dalal, Manisha, Niraj Kumari, Narendra Krishnani, Janak Kishore. Urorectal septal malformation presenting as non immune hydrops fetalis. Prenatal diagnosis 2006; 26 (6): 582-584.

  3. Dalal Ashwin B, Phadke Shubha R, Pradhan Mandakini, Sharda Sheetal. Hemihyperplasia syndromes: A review of 17 cases. Indian Journal of Pediatrics 2006; 73(7): 609-615.

  4. Shubha Phadke, Girisha KM, Ashwin Dalal. Handless footless fetus. Clin Dysmorph 2006; 15(4):233-234.

  5. Ashwin Dalal, Mandakini Pradhan, Deepshikha Tiwari, Sanjay Behari, Rajkumar, Uttam Singh, G K Mallik, Vinita Das, Sarita Agarwal. MTHFR 677C-T and 1298A-C Polymorphisms: Evaluation of Maternal Genotypic Risk and Association with Level of Neural Tube Defect Gynaecologic and Obstetric Investigation 2006; 63(3), 146-150.

  6. Ashwin Dalal, Deepshikha Tiwari, Satyendra Tewari, Usha Rani Gupta, Mandakini Pradhan, Nakul Sinha, Sarita Agarwal. Association of coronary artery disease with ACE and MTHFR gene polymorphism in Indian population. Indian Heart Journal 2006; 58:1-6.

  7. Ashwin Dalal, Mandakini Pradhan & Sarita Agarwal. Genetics of bleeding disorders. Indian journal of Human Genetics 2006; 6(1):27-32.

  8. Mandakini Pradhan, Ashwin Dalal, Faisal Khan, Suraksha Agrawal. Fertility in men with Down syndrome: a case report. Fertility and Sterility 2006; 86(6).e1-3.

  9. Ashwin Dalal, Mandakini Pradhan. Not a rare case of "Cyclops with hydrocephaly" but a case of Holoprosencephaly. J Obstet Gynaecol India 2006; 56 (1): 85. (Letter to editor)


  1. Ashwin Dalal, M P Silveira. Immunization status of children in Goa. Indian Pediatrics. 2005; 42: 401-402.

  2. Ashwin Dalal, Shubha R Phadke. MTHFR polymorphisms in neural tube defects: Current perspective. Journal of Metabolism and Genetics 2005; 1(2): 109-115.

  3. Dalal Ashwin B, Phadke Shubha R. Morphometric analysis of face in dysmorphology. Computer programs and methods in biomedicine 2007; 85(2):165-7.


  1. Renu Singh, Shubha Phadke, M Pradhan, Ashwin Dalal (2004). Unexpected chromosomal abnormalities at prenatal diagnosis: A counseling dilemma. Perinatology 2004; 6(6): 305-309.

  2. Sankar V H, Ashwin B Dalal, M Pradhan, Sarita Agarwal. (2004) Thalassemia intermedia: An Overview, in Recent advances in genetics and health, Osmania University, 63-77.

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Last updated on : Monday, 24th May, 2021.

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