Article

Komaravalli, Prasanna Latha and Vasantha Rani, S. and Dalal, Ashwin and Jahan, Parveen (2020) Association analysis of FMR1 genetic variants and Primary Ovarian Insufficiency in South Indian women with a novel approach of CGG repeats classification. European Journal of Medical Genetics, 63 (12). p. 104081. ISSN 1769-7212

Nampoothiri, S. and Yesodharan, D. and Bhattacherjee, Amrita and Ahamed, H. and Puri, R.D. and Gupta, N. and Kabra, M. and Ranganath, Prajnya and Bhat, M. and Phadke, S.R. and Radha Rama Devi, A. and Jagadeesh, S. and Danda, S. and Sylaja, P.N. and Mandal, K. and Bijarnia‐Mahay, S. and Makkar, R. and Verma, I.C. and Dalal, Ashwin and Ramaswami, U. (2020) Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients. JIMD Reports, 56 (1). pp. 82-94. ISSN 2192-8312

Divya, Pasumarthi and Gupta, N. and Sheth, J. and Jain, J.M.N. and Rungsung, I. and Kabra, M. and Ranganath, Prajnya and Aggarwal, Shagun and Phadke, S.R. and Girisha, K.M. and Shukla, A. and Datar, C. and Verma, I.C. and Puri, R.D. and Bhavsar, R. and Mistry, M. and Sankar, V.H. and Gowrishankar, K. and Agrawal, Divya and Nair, M. and Danda, S. and Soni, J.P. and Dalal, Ashwin (2020) Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III. Journal of Human Genetics, 65 (11). pp. 971-984. ISSN 1434-5161

Shetty, K. and Sarma, A.S. and Devan, Meera and Dalal, Ashwin and Dash, G.K. and Jannabhatla, A. and Patil, S.J. (2020) Recurrent <i>ADCY5</i> Mutation in Mosaic Form with Nocturnal Paroxysmal Dyskinesias and Video Electroencephalography Documentation of Dramatic Response to Caffeine Treatment. Journal of Movement Disorders, 13 (3). pp. 238-240. ISSN 2005-940X

Rungsung, I. and Sahay, M. and Dalal, Ashwin (2020) Digenic variations of human COL4A3 and COL4A4 genes result in early onset renal failure. Gene Reports, 19. p. 100602. ISSN 2452-0144

Ranganath, Prajnya and Sreeja, P. and Nair, Lekshmi and Pramod Kumar, P. and Aparna , Shankar and Sakthivel, M. and Dalal, Ashwin (2020) A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4. European Journal of Human Genetics, 28 (5). pp. 669-673. ISSN 1018-4813

Arora, Veronica and Setia, Nitika and Dalal, Ashwin and Vanaja, M.C. and Gupta, Deepti and Razdan, Tinku and Phadke, S.R. and Saxena, Renu and Rohtagi, Anshu and Verma, I.C. and Puri, R.D. (2020) Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients. Molecular Genetics and Metabolism Reports, 22. p. 100561. ISSN 2214-4269

Aggarwal, Shagun and Vineeth, V.S. and Das Bhowmik, A. and Tandon, A. and Kulkarni, A. and Dhanya Lakshmi, N. and Bhattacherjee, Amrita and Dalal, Ashwin (2020) Exome sequencing for perinatal phenotypes: the significance of deep phenotyping. Prenatal Diagnosis, 40 (2). pp. 260-273. ISSN 0197-3851

Dutta, Usha and Suttur, M.S. and Vineeth, V.S. and Laxmi Priyanka, P. and Sravani, G. and Talwar, S. and Suhana, A. and Sushmita, B. and Rachel, J.A. and Dalal, Ashwin (2020) 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. ISSN 0303-4569 (In Press)

Girisha, K.M. and Pande, Shruti and Dalal, Ashwin and Phadke, S.R. (2020) Untapped opportunities for rare disease gene discovery in India. American Journal of Medical Genetics Part A. ISSN 1552-4825 (In Press)

Samaranayake, N. and Dissanayaka, P. and Gunarathna, I. and Gonawala, L. and Wijekoon, N. and Rathnayake, P. and Sirisena, D. and Gunasekara, H. and Dissanayake, A. and Senanayake, S. and Anand, Akshay and Satyamoorthy, K. and Dalal, Ashwin and de Silva, K.R.D. (2020) What We Fail to See in Neuro-Genetic Diseases: A Bird’s Eye View from the Developing World. Annals of Neurosciences. 097275312095006. ISSN 0972-7531 (In Press)

Dhanya Lakshmi, N. and Ranganath, P. and Aggarwal , Shagun and Dalal, Ashwin and Phadke, S.R. and Mandal, K. (2019) Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children. Indian Pediatrics, 56 (12). pp. 1017-1019. ISSN 0019-6061

Tyagi, Rahul and Kumar, Sumit and Dalal, Ashwin and Mohammed, Faruq and Mohanty, Manju and Kaur, Paramvir and Anand , Akshay (2019) Repurposing Pathogenic Variants of DMD Gene and its Isoforms for DMD Exon Skipping Intervention. Current Genomics, 20 (7). pp. 519-530. ISSN 1389-2029

Dhanya Lakshmi, N. and Ranganath, P. and Balakrishnan, S. and Dalal, Ashwin (2019) Mosaic paternal uniparental isodisomy of 15q11-q13 region causing Angelman phenotype. Clinical Dysmorphology, 28 (4). pp. 202-204. ISSN 0962-8827

Dutta, Usha and Rao, S.N. and Vijaya Kumar, P. and Vineeth, V.S. and Bhattacherjee, Amrita and Das Bhowmik, A. and Ramaswamy, S.K. and Singh, K.G. and Dalal, Ashwin (2019) Breakpoint mapping of a novel de novo translocation t(X;20)(q11.1;p13) by positional cloning and long read sequencing. Genomics, 111 (5). pp. 1108-1114. ISSN 0888-7543

Nerakh, Gayatri and Tandon, A. and Dalal, Ashwin and Aggarwal, Shagun (2019) Exome Sequencing Identifies RET Associated Hirschsprung Disease in a Fetus with Echogenic Bowel. Journal of Fetal Medicine, 6 (3). pp. 151-154. ISSN 2348-1153

Bhattacherjee, Amrita and Ranganath, P. and Divya, Pasumarthi and Dalal, Ashwin (2019) Identification and in-silico analysis of a novel disease-causing variant in the GUSB gene for Mucopolysaccharidosis VII presenting as non-immune fetal hydrops. Gene Reports, 16. p. 100437. ISSN 2452-0144

Vignesh, Pandiarajan and Sharma, Madhubala and Pilania, R.K. and Shandilya, J.K. and Kaur, Anit and Goel, Shubham and Kaur, Anupriya and Suri, Deepti and Rawat, Amit and Dalal, Ashwin and Sarma, A.S. and Singh, Surjit (2019) Myriad Faces of Chronic Granulomatous Disease: All in an Indian Family with Novel CYBB Defect. Journal of Clinical Immunology, 39 (6). pp. 611-615. ISSN 0271-9142

Karthik, T. and Ranganath, P. and Ramachandran, A. and Uppin, M.S. and Sreeja, P. and Aggarwal, Shagun and Lakshmi, D. and Meena, A.K. and Dalal, Ashwin (2019) Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India. Indian Pediatrics, 56 (7). pp. 556-559. ISSN 0019-6061

Dutta, Usha and Swamy, Venugopala and Rajitha, Ponnala and Aggarwal, Shagun and Dalal, Ashwin (2019) Determining the Cause of Recurrent Miscarriages in a Couple: Importance of NOR in the Era of NGS. Journal of Reproduction and Infertility, 20 (2). pp. 109-114. ISSN 2228-5482

Karthik, T. and Aggarwal, Shagun and Bhattacherjee, Amrita and Das Bhowmik, A. and Dalal, Ashwin (2019) Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned? Molecular Syndromology, 10 (3). pp. 177-182. ISSN 1661-8769

Dhanya Lakshmi, N. and Matta, D. and Gupta, N. and Kabra, M. and Ranganath, P. and Aggarwal, Shagun and Phadke, S.R. and Datar, C. and Gowrishankar, K. and Kamate, M. and Jain, J.M.N. and Dalal, Ashwin (2019) Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy. Journal of Human Genetics, 64 (4). pp. 323-331. ISSN 1434-5161

Sheth, J. and Bhavsar, R. and Mistri, M. and Pancholi, D. and Bavdekar, A. and Dalal, Ashwin and Ranganath, P. and Girisha, K.M. and Shukla, A. and Phadke, S.R. and Puri, R. and Panigrahi, I. and Kaur, A. and Muranjan, M. and Goyal, M. and Radha Ramadevi, A. and Shah, R. and Nampoothiri, S. and Danda, S. and Datar, C. and Kapoor, S. and Bhatwadekar, S. and Sheth, F. (2019) Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation. BMC Medical Genetics, 20 (1). p. 31. ISSN 1471-2350

Vineeth, V.S. and Das Bhowmik, A. and Balakrishnan, S. and Dalal, Ashwin and Aggarwal, Shagun (2019) Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. Journal of Human Genetics, 64 (1). pp. 183-189. ISSN 1434-5161

Das Bhowmik, A. and Dalal, Ashwin and Tandon, A. and Aggarwal, Shagun (2018) Exome sequencing identifies novel ACE splice-site variant in a fetus with renal tubular dysgenesis. Journal of Obstetrics and Gynaecology Research, 44 (12). pp. 2181-2185. ISSN 1341-8076

Das Bhowmik, A. and Karthik, T. and Uppin, M. and Sundaram, C. and Dalal, Ashwin (2018) Targeted next generation sequencing reveals novel splice site mutations in COL6A3 gene in a patient with congenital muscular dystrophy. Neurology India, 66 (6). pp. 1812-1814. ISSN 0028-3886

Vineeth, V.S. and Dutta, Usha and Karthik, T. and Das Bhowmik, A. and Dalal, Ashwin (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. pp. 56-60. ISSN 0378-1119

Das Bhowmik, A. and Patil, S.J. and Deshpande, D.V. and Bhat, V. and Dalal, Ashwin (2018) Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79. Journal of Human Genetics, 63 (8). pp. 927-933. ISSN 1434-5161

Nagarajan, K. and Swamiappan, E. and Anbazhagan, S. and Dalal, Ashwin and Adithan, S. and Krings, T. (2018) “Twig-like” cerebral vessels are not pathognomonic for ACTA A2 mutations: A case report. Interventional Neuroradiology, 24 (4). pp. 463-468. ISSN 1591-0199

Aggarwal, Shagun and Das Bhowmik, A. and Tandon, A. and Dalal, Ashwin (2018) Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus. European Journal of Medical Genetics, 61 (7). pp. 399-402. ISSN 1769-7212

Patil, S.J. and Das Bhowmik, A. and Bhat, V. and Venugopal, S.V. and Rashmi, V. and Dalal, Ashwin (2018) Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene. American Journal of Medical Genetics Part A, 176 (5). pp. 1200-1206. ISSN 1552-4825

Godbole, K.G. and Angelina, R. and Karkamkar, A.S. and Dalal, Ashwin (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, 42 (2). pp. 141-142. ISSN 0363-0269

Karthik, T. and Venugopal , V. and Dalal, Ashwin and Aggarwal, Shagun (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 A, 176 (4). pp. 1006-1010. ISSN 1552-4825

Aggarwal, Shagun and Tandon, A. and Das Bhowmik, A. and Dalal, Ashwin (2018) 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, 176 (2). pp. 499-501. ISSN 1552-4825

Puri, R.D. and Kapoor, S. and Kishnani, P.S. and Dalal, Ashwin and Gupta, N. and Muranjan, M. and Phadke, S.R. and Sachdeva, A. and Verma, I.C. and Mistry, P.K. (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). pp. 143-153. ISSN 0019-6061

Mistri, M.A. and Dalal, Ashwin and Nath, P. and Nampoothiri, S. and Mehta, S. and Singh, A. and Sheth, F. and Sheth, J. (2018) Identification of novel and known mutation in 19 patients with mucolipidosis type II and III from India and validation of novel method of screening for mucolipidosis-II and III screening. Molecular Genetics and Metabolism, 123 (2). s96. ISSN 1096-7192

Aggarwal, Shagun and Tandon, A. and Das Bhowmik, A. and Jain, J.M.N. and Dalal, Ashwin (2018) A Dysmorphology Based Systematic Approach Toward Perinatal Genetic Diagnosis in a Fetal Autopsy Series. Fetal and Pediatric Pathology, 37 (1). pp. 49-68. ISSN 1551-3815

Dhanya Lakshmi, N. and Deshpande, D. and Das Bhowmik, A. and Varma, D.R. and Dalal, Ashwin (2018) Familial choreoathetosis due to novel heterozygous mutation in PDE10A. American Journal of Medical Genetics Part A, 176 (1). pp. 146-150. ISSN 1552-4825

Shukla, A. and Das Bhowmik, A. and Hebbar, Malavika and Rajagopal, K.V. and Girisha, K.M. and Gupta, N. and Dalal, Ashwin (2018) Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis. Journal of Human Genetics, 63 (1). pp. 19-25. ISSN 1434-5161

Das Bhowmik, A. and Vijayalakshmi, S.R. and Dalal, Ashwin (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). pp. 219-224. ISSN 1552-4825

Kar, Anjana and Phadke, S.R. and Das Bhowmik, A. and Dalal, Ashwin (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). pp. 34-40. ISSN 1552-4825

Dutta, Usha and Bahal, Ashish and Vineeth, V.S. and Vasantha, S. and Ranganath, P. and Dalal, Ashwin (2017) A novel mosaic complex supernumerary marker chromosome in a girl with seizures: Systematic characterization of the complex marker. Gene Reports, 8. pp. 128-133. ISSN 2452-0144

Karthik, T. and Ranganath, P. and Dalal, Ashwin (2017) Variable expressivity and response to bisphosphonate therapy in a family with osteoporosis pseudoglioma syndrome. Indian Pediatrics, 54 (8). pp. 681-683. ISSN 0019-6061

Das Bhowmik, A. and Gupta, N. and Dalal, Ashwin and Kabra, M. (2017) Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity. Obesity Research & Clinical Practice, 11 (2). pp. 241-246. ISSN 1871-403X

Uttarilli, Anusha and Divya, Pasumarthi and Ranganath, P. and Dalal, Ashwin (2017) Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Gene, 599. pp. 19-27. ISSN 0378-1119

Harms, F.L. and Girisha, K.M. and Hardigan, A.A. and Kortüm, F. and Shukla, A. and Alawi, M. and Dalal, Ashwin and Brady, L. and Tarnopolsky, M. and Bird, L.M. and Ceulemans, S. and Bebin, M. and Bowling, K.M. and Hiatt, S.M. and Lose, E.J. and Primiano, M. and Chung, W.K. and Juusola, J. and Akdemir, Z.C. and Bainbridge, M. and Charng, W.L. and Drummond-Borg, M. and Eldomery, M.K. and El-Hattab, A.W. and Saleh, M.A.M. and Bézieau, S. and Cogné, B. and Isidor, B. and Küry, S. and Lupski, J.R. and Myers, R.M. and Cooper, G.M. and Kutsche, K. (2017) Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. The American Journal of Human Genetics, 100 (1). pp. 117-127. ISSN 0002-9297

Chaudhary, A.K. and Mohapatra, R. and Nagarajaram, H.A. and Ranganath, P. and Dalal, Ashwin and Dutta, A. and Danda, S. and Girisha, K.M. and Bashyam, M.D. (2017) The novelEDARp.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia. Journal of the European Academy of Dermatology and Venereology, 31 (1). e17-e20. ISSN 0926-9959

Uttarilli, Anusha and Ranganath, P. and Matta, D. and Jain, J.M.N. and Krishnaprasad, C. and Sobhan Babu, A. and Girisha, K.M. and Verma, I.C. and Phadke, S.R. and Mandal, K. and Puri, R.D. and Aggarwal, Shagun and Danda, S. and Sankar, V.H. and Kapoor, S. and Bhat, M. and Gowrishankar, K. and Hasan, A.Q. and Nair, M. and Nampoothiri, S. and Dalal, Ashwin (2016) Identification and Characterization of 20 Novel Pathogenic Variants in 60 unrelated Indian patients with Mucopolysaccharidoses (MPS) type I and type II. Clinical Genetics, 90 (6). pp. 496-508. ISSN 0009-9163

Srivastava, Priyanka and Tuteja, M. and Dalal, Ashwin and Mandal, K. and Phadke, S.R. (2016) Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux. Journal of Genetics, 95 (4). pp. 905-909. ISSN 0022-1333

Das Bhowmik, A. and Dalal, Ashwin and Matta, D. and Rukmini, M.K. and Kanikannan, M.A. and Aggarwal, Shagun (2016) Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing. Neuromuscular Disorders, 26 (11). pp. 809-814. ISSN 0960-8966

Ranganath, P. and Matta, D. and Bhavani, G.S. and Wangnekar, S. and Jain, J.M.N. and Verma, I.C. and Kabra, M. and Puri, R.D. and Danda, S. and Gupta, N. and Girisha, K.M. and Sankar, V.H. and Patil, S.J. and Radha Rama Devi, A. and Bhat, M. and Gowrishankar, K. and Mandal, K. and Aggarwal, Shagun and Tamhankar, P.M. and Tilak, P. and Phadke, S.R. and Dalal, Ashwin (2016) Spectrum of SMPD1mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. American Journal of Medical Genetics Part A, 170 (10). pp. 2719-2730. ISSN 1552-4825

Patil, D.V. and Phadke, M.S. and Pahwa, J.S. and Dalal, Ashwin (2016) Brothers with constrictive pericarditis – A novel mutation in a rare disease. Indian Heart Journal, 68 (S2). S284-S287. ISSN 0019-4832

Hebbar, Malavika and Harsha Prasada, L. and Das Bhowmik, A. and Trujillano, D. and Shukla, A. and Chakraborti, Shrijeet and Kandaswamy, K.K. and Rolfs, A. and Kamath, N. and Dalal, Ashwin and Bielas, S. and Girisha, K.M. (2016) Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C. American Journal of Medical Genetics Part A, 170 (9). pp. 2486-2489. ISSN 1552-4825

Girisha, K.M. and Kortüm, F. and Shah, H. and Alawi, M. and Dalal, Ashwin and Bhavani, G.S. and Kutsche, K. (2016) A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. European Journal of Human Genetics, 24 (8). pp. 1206-1210. ISSN 1018-4813

Aggarwal, Shagun and Das Bhowmik, A. and Ramprasad, V.L. and Murugan, S. and Dalal, Ashwin (2016) A splice site mutation inHERC1leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum. American Journal of Medical Genetics Part A, 170 (7). pp. 1868-1873. ISSN 1552-4825

Phadke, S.R. and Kar, A. and Das Bhowmik, A. and Dalal, Ashwin (2016) Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders. American Journal of Medical Genetics Part A, 170 (6). pp. 1622-1625. ISSN 1552-4825

Das Bhowmik, A. and Dalal, Ashwin and Matta, D. and Sundaram, C. and Aggarwal, Shagun (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). pp. 354-355. ISSN 0019-5456

Dalal, Ashwin (2016) Dental stem cells: Hope or hype? Indian Journal of Dental Research, 27 (2). pp. 113-114. ISSN 1998-3603

Bhavani, G.S. and Shah, H. and Shukla, A. and Gupta, N. and Gowrishankar, K. and Rao, A.P. and Kabra, M. and Agarwal, M. and Ranganath, P. and Ekbote, A.V. and Phadke, S.R. and Kamath, A. and Dalal, Ashwin and Girisha, K.M. (2016) Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy. American Journal of Medical Genetics Part A, 170 (2). pp. 410-417. ISSN 1552-4825

Aggarwal, Shagun and Bahal, Ashish and Dalal, Ashwin (2016) 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, 59 (1). pp. 5-10. ISSN 1769-7212

Deshpande, R. and Parthasarathy, L. and Dalal, Ashwin and Khadilkar, V. and Khadilkar, A. (2016) Variability in the Manifestations and Evolution of Symptoms in a Patient with H Syndrome. The Indian Journal of Pediatrics, 83 (1). pp. 92-93. ISSN 0019-5456

Gupta, N. and Benjamin, M. and Kar, A. and Munjal, S.D. and Sarangi, A.N. and Dalal, Ashwin and Aggarwal, Rakesh (2015) Identification of Promotor and Exonic Variations, and Functional Characterization of a Splice Site Mutation in Indian Patients with Unconjugated Hyperbilirubinemia. PLoS ONE, 10 (12). e0145967. ISSN 1932-6203

Das Bhowmik, A. and Dalal, Ashwin (2015) Whole exome sequencing identifies a novel frameshift mutation in GPC3 gene in a patient with overgrowth syndrome. Gene, 572 (2). pp. 303-306. ISSN 0378-1119

Aggarwal, Shagun and Jain, S.J.M.N. and Das Bhowmik, A. and Tandon, A. and Dalal, Ashwin (2015) Molecular studies on parents after autopsy identify recombinant GBA gene in a case of Gaucher disease with ichthyosis phenotype. American Journal of Medical Genetics Part A, 167 (11). pp. 2858-2860. ISSN 1552-4825

Bhavani, G.S. and Shah, H. and Dalal, Ashwin and Shukla, A. and Danda, S. and Aggarwal, Shagun and Phadke, S.R. and Gupta, N. and Kabra, M. and Gowrishankar, K. and Gupta, A. and Bhat, M. and Puri, R.D. and Bijarnia-Mahay, S. and Nampoothiri, S. and Mohanasundaram, K.M. and Rajeswari, S. and Kulkarni, A.M. and Kulkarni, M.L. and Ranganath, P. and Radha Rama Devi, A. and Hariharan, S.V. and Girisha, K.M. (2015) Novel and recurrent mutations inWISP3and an atypical phenotype. American Journal of Medical Genetics Part A, 167 (10). pp. 2481-2484. ISSN 1552-4825

Uttarilli, Anusha and Ranganath, P. and Jain, S.J.M.N. and Krishnaprasad, C. and Sinha, A. and Verma, I.C. and Phadke, S.R. and Puri, R.D. and Danda, S. and Muranjan, M. and Jevalikar, G. and Nagarajaram, H.A. and Dalal, Ashwin (2015) Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. Indian Journal of Medical Research, 142 (4). pp. 414-425. ISSN 0971-5916

Bidchol, A.M. and Dalal, Ashwin and Trivedi, R. and Shukla, A. and Nampoothiri, S. and Sankar, V.H. and Danda, S. and Gupta, N. and Kabra, M. and Hebbar, S.A. and Bhat, R.Y. and Matta, D. and Ekbote, A.V. and Puri, R.D. and Phadke, S.R. and Gowrishankar, K. and Aggarwal, Shagun and Ranganath, P. and Sharda, S. and Kamate, M. and Datar, C.A. and Bhat, K. and Kamath, N. and Shah, H. and Krishna, S. and Gopinath, P.M. and Verma, I.C. and Nagarajaram, H.A. and Satyamoorthy, K. and Girisha, K.M. (2015) Recurrent and novel GLB1 mutations in India. Gene, 567 (2). pp. 173-181. ISSN 0378-1119

Dalal, Ashwin and Das Bhowmik, A. and Agarwal, Divya and Phadke, S.R. (2015) Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family. Indian Journal of Medical Research, 142 (2). pp. 220-224. ISSN 0971-5916

Gupta, A. and Uttarilli, Anusha and Dalal, Ashwin and Girisha, K.M. (2015) Hunter syndrome with late age of presentation: clinical description of a case and review of the literature. BMJ Case Reports, 2015. ISSN 1757-790X

Das Bhowmik, A. and Rangaswamaiah, S. and Srinivas, G. and Dalal, Ashwin (2015) Molecular genetic analysis of trinucleotide repeat disorders (TRDs) in Indian population and application of repeat primed PCR. European journal of Medical Genetics, 58 (3). pp. 160-167. ISSN 1878-0849

Aggarwal, Shagun and Kar, A. and Bland, P. and Kelsell, D. and Dalal, Ashwin (2015) Novel ABCA12 mutations in harlequin ichthyosis: a journey from photo diagnosis to prenatal diagnosis. Gene, 556 (2). pp. 254-256. ISSN 1879-0038

Stephen, J. and Girisha, K.M. and Dalal, Ashwin and Shukla, A. and Shah, H. and Srivastava, P. and Kornak, U. and Phadke, S.R. (2015) Mutations in patients with osteogenesis imperfecta from consanguineous Indian families. European Journal of Medical Genetics, 58 (1). pp. 21-27. ISSN 1878-0849

Dalal, Ashwin and Ranganath, P. and Phadke, S.R. and Kabra, M. and Danda, S. and Puri, R.D. and Sankar, V.H. and Gupta, N. and Patil, S.J. and Mandal, K. and Tamhankar, P.M. and Aggarwal, Shagun and Agarwal, Meenal (2015) Prenatal diagnosis in India is not limited to sex selection. Genetics in Medicine, 17 (1). p. 88. ISSN 1098-3600

Bashyam, M.D. and Chaudhary, A.K. and Kiran, M. and Reddy, V. and Nagarajaram, H.A. and Dalal, Ashwin and Bashyam, L. and Sun, D. and Gupta, A. and Gupta, N. and Kabra, M. and Puri, R.D. and Radha Rama Devi, A. and Kapoor, S. and Danda, S. (2014) Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation. Clinical Genetics, 86 (6). pp. 530-538. ISSN 1399-0004

Bidchol, A.M. and Dalal, Ashwin and Shah, H. and Suryanarayana, S. and Nampoothiri, S. and Kabra, M. and Gupta, N. and Danda, S. and Gowrishankar, K. and Phadke, S.R. and Kapoor, S. and Kamate, M. and Verma, I.C. and Puri, R.D. and Sankar, V.H. and Radha Rama Devi, A. and Patil, S.J. and Ranganath, P. and Jain, S.J.M.N. and Agarwal, Meenal and Singh, Ankur and Mishra, P. and Tamhankar, P.M. and Gopinath, P.M. and Nagarajaram, H.A. and Satyamoorthy, K. and Girisha, K.M. (2014) GALNS Mutations in Indian Patients With Mucopolysaccharidosis IVA. American Journal of Medical Genetics Part A, 164A (11). pp. 2793-2801. ISSN 1552-4833

Nandagopalan, R.S. and Phadke, S.R. and Dalal, Ashwin and Ranganath, P. (2014) Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy- coxa vara- pericarditis (CACP) syndrome. Indian Journal of Medical Research, 140 (2). pp. 221-226. ISSN 0971-5916

Aggarwal, Shagun and Coutinho, M.F. and Dalal, Ashwin and Jain, S.J.M.N. and Prata, M.J. and Alves, S. (2014) Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation. Gene, 542 (2). pp. 266-268. ISSN 1879-0038

Kantaputra, P.N. and Kayserili, H. and Guven, Y. and Kantaputra, W. and Balci, M.C. and Tanpaiboon, P. and Tananuvat, N. and Uttarilli, Anusha and Dalal, Ashwin (2014) Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novelARSBmutations. American Journal of Medical Genetics Part A, 164 (6). pp. 1443-1453. ISSN 1552-4825

Tsurusaki, Y. and Okamoto, N. and Ohashi, H. and Mizuno, S. and Matsumoto, N. and Makita, Y. and Fukuda, M. and Isidor, B. and Perrier, J. and Aggarwal, Shagun and Dalal, Ashwin and Al-Kindy, A. and Liebelt, J. and Mowat, D. and Nakashima, M. and Saitsu, H. and Miyake, N. and Matsumoto, N. (2014) Coffin-Siris syndrome is a SWI/SNF complex disorder. Clinical Genetics, 85 (6). pp. 548-554. ISSN 1399-0004

Stephen, J. and Shukla, A. and Dalal, Ashwin and Girisha, K.M. and Shah, H. and Gupta, N. and Kabra, M. and Dabadghao, P. and Phadke, S.R. (2014) Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. American Journal of Medical Genetics. Part A, 164A (6). pp. 1482-1489. ISSN 1552-4833

Dutta, Usha and Vempally, S. and Ranganath, P. and Dalal, Ashwin (2014) A novel combined 15q11.2 duplication and a bisatellited supernumerary marker derived from chromosome 22: molecular characterization of the marker. Gene, 539 (1). pp. 162-7. ISSN 1879-0038

Dutta, Usha and Rajitha, Ponnala and Dalal, Ashwin (2014) A Novel de novo Balanced Reciprocal Translocation t(18;22) Associated with Recurrent Miscarriages: A Case Report. Journal of Reproduction and Infertility, 15 (2). pp. 113-116. ISSN 2251-676X

Kantaputra, P.N. and Kayserili, H. and Guven, Y. and Kantaputra, W. and Balci, M.C. and Tanpaiboon, P. and Uttarilli, Anusha and Dalal, Ashwin (2014) Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI. Journal of Inherited Metabolic Disease, 37 (2). pp. 263-8. ISSN 1573-2665

Bashyam, M.D. and Chaudhary, A.K. and Kiran, M. and Nagarajaram, H.A. and Radha Rama Devi, A. and Ranganath, P. and Dalal, Ashwin and Bashyam, L. and Gupta, N. and Kabra, M. and Muranjan, M. and Puri, R.D. and Verma, I.C. and Nampoothiri, S. and Kadandale, J.S. (2014) Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India. Journal of Cellular Biochemistry, 115 (3). pp. 566-74. ISSN 1097-4644

Love, J.M. and Prosser, D. and Love, D.R. and Krishnaprasad, C. and Dalal, Ashwin and Aggarwal, Shagun (2014) A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia. Journal of Child Neurology, 29 (1). pp. 122-7. ISSN 1708-8283

Dalal, Ashwin (2014) Molecular cytogenetic characterization of chromosomal rearrangements - utility in genetic counseling and research. Molecular Cytogenetics, 7 (Suppl ). I12. ISSN 1755-8166

Aggarwal, Shagun and Uttarilli, Anusha and Dalal, Ashwin (2013) GAPO syndrome with deafness. Clinical Dysmorphology, 22 (4). pp. 161-163. ISSN 0962-8827

Dutta, Usha and Vijaya Kumar, P. and Goud, Ch.V. and Hoefers, C. and Hagemann, M. and Dalal, Ashwin (2013) Identification and molecular cytogenetic characterization of a novel complex Y chromosome rearrangement in a boy with disorder of sexual development. Gene, 519 (2). pp. 374-380. ISSN 0378-1119

Dutta, Usha and Rajitha, Ponnala and Vijaya Kumar, P. and Dalal, Ashwin (2013) Chromosomal abnormalities in amenorrhea: a retrospective study and review of 637 patients in South India. Archives of Iranian medicine, 16 (5). pp. 267-70. ISSN 1735-3947

Ranganath, P. and Dalal, Ashwin (2013) Congenital metacarpal pseudoarthrosis, cleft palate, short stature, advanced bone age, and genu valgum. Clinical Dysmorphology, 22 (2). pp. 73-75. ISSN 0962-8827

Muthuswamy, S. and Agarwal, Sarita and Dalal, Ashwin (2013) Diagnosis and Genetic Counseling for Friedreich's Ataxia: A time for consideration of TP-PCR in an Indian Setup. Hippokratia, 17 (1). pp. 38-41. ISSN 1108-4189

Dutta, Usha and Vijaya Kumar, P. and Dalal, Ashwin (2012) Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea. Case Reports in Genetics, 2012. ID 212065. ISSN 2090-6544

Dalal, Ashwin and Bhavani, G.S. and Padma Priya, T. and Bierhals, T. and Nandineni, M.R. and Danda, S.R. and Danda, D. and Shah, H. and Vijayan, S. and Gowrishankar, K. and Phadke, S.R. and Bidchol, A.M. and Rao, A.P. and Nampoothiri, S. and Kutsche, K. and Girisha, K.M. (2012) Analysis of theWISP3gene in Indian families with progressive pseudorheumatoid dysplasia. American Journal of Medical Genetics Part A, 158A (11). pp. 2820-2828. ISSN 1552-4825

Bashyam, M.D. and Chaudhary, A.K. and Sinha, M. and Nagarajaram, H.A. and Radha Rama Devi, A. and Bashyam, L. and Reddy, E.C. and Dalal, Ashwin (2012) Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β. Journal of Cellular Biochemistry, 113 (10). pp. 3122-3132. ISSN 0730-2312

Verma, P.K. and Ranganath, P. and Dalal, Ashwin and Phadke, S.R. (2012) Spectrum of lysosomal storage disorders at a medical genetics center in Northern India. Indian Pediatrics, 49 (10). pp. 799-804. ISSN 0019-6061

Padma Priya, T. and Dalal, Ashwin (2012) Tuberous Sclerosis: Diagnosis and Prenatal Diagnosis by MLPA. The Indian Journal of Pediatrics, 79 (10). pp. 1366-1369. ISSN 0019-5456

Angalena, R. and Aggarwal, Shagun and Phadke, S.R. and Dalal, Ashwin (2012) 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. International Journal of Laboratory Hematology, 34 (4). e7-e9. ISSN 1751-5521

Patil, S.J. and Bhat, V. and Dalal, Ashwin and Santosh, J.S. (2012) Confirmation of the Zechi-Ceide syndrome. American Journal of Medical Genetics Part A, 158A (6). pp. 1467-1471. ISSN 15524825

Dutta, Usha and Vijaya Kumar, P. and Dalal, Ashwin (2012) Molecular and cytogenetic characterization of two patients with recurrent miscarriages and X-autosome translocation. Journal of Research in Medical sciences, 17 (6). pp. 572-4. ISSN 1735-1995

Patil, S.J. and Rajitha, Ponnala and Shah, S. and Dalal, Ashwin (2012) Mosaic Trisomy 9 Presenting with Congenital Heart Disease, Facial Dysmorphism and Pigmentary Skin Lesions: Intricate Issues of Genetic Counseling. The Indian Journal of Pediatrics, 79 (6). pp. 806-809. ISSN 0019-5456

Rajitha, Ponnala and Ranganath, P. and Dutta, Usha and Pidugu, V.K. and Dalal, Ashwin (2012) Phenotypic and Molecular Characterization of Partial Trisomy 2q Resulting from Insertion-Duplication in Chromosome 18q: A Case Report and Review of Literature. Cytogenetic and Genome Research, 136 (3). pp. 229-234. ISSN 1424-8581

Bashyam, M.D. and Chaudhary, A.K. and Reddy, E.C. and Reddy, V. and Acharya, V. and Nagarajaram, H.A. and Radha Rama Devi, A. and Bashyam, L. and Dalal, Ashwin and Gupta, N. and Kabra, M. and Agarwal, Meenal and Phadke, S.R. and Tainwala, R. and Kumar, R. and Hariharan, S.V. (2012) A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India. British Journal of Dermatology, 166 (4). pp. 819-829. ISSN 0007-0963

Dutta, Usha and Vijaya Kumar, P. and Goud, Ch.V. and Dalal, Ashwin (2012) Mosaic Down syndrome with a marker: Molecular cytogenetic characterization of the marker chromosome. Gene, 495 (2). pp. 199-204. ISSN 0378-1119

Kumar, Ravindra and Panigrahi, I. and Dalal, Ashwin and Agarwal, Sarita (2012) Sickle Cell Anemia—Molecular Diagnosis and Prenatal Counseling: SGPGI Experience. Indian Journal of Pediatrics, 79 (1). pp. 68-74. ISSN 0019-5456

Rajitha, Ponnala and Dalal, Ashwin (2011) Partial monosomy 7q. Indian Pediatrics, 48 (5). pp. 399-401. ISSN 0974-7559

Dutta, Usha and Rajitha, Ponnala and Vijaya Kumar, P. and Dalal, Ashwin (2011) Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in Southern region of India: report and review. Journal of Assisted Reproduction and Genetics, 28 (2). pp. 145-149. ISSN 1058-0468

Malini, S.S. and Vijaya Kumar, P. and Dalal, Ashwin and Dutta, Usha (2011) Evaluation of sex chromosomal anomalies in sperms among infertile males by Fluorescence in situ Hybridization. Journal of Cytology and Genetics, 12. pp. 77-84. ISSN 0253-7605

Angalena, R. and Prabitha, K.N. and Chaudhary, A.K. and Bashyam, M.D. and Jain, S. and Dalal, Ashwin (2010) A novel homozygous point mutation at codon 82 (HBB:c.247A > T) in the beta-globin gene leads to thalassemia major. International Journal of Laboratory Hematology, 32 (5). pp. 548-549. ISSN 1751-5521

Dalal, Ashwin and Sarkar, A. and Padma Priya, T. and Nandineni, M.R. (2010) Giuffrè-Tsukahara syndrome: Evidence for X-linked dominant inheritance and review. American Journal of Medical Genetics Part A, 152A (8). pp. 2057-2060. ISSN 1552-4825

Agarwal, Sarita and Tamhankar, P.M. and Kumar, R. and Dalal, Ashwin (2010) Clinical and haematological features in a compound heterozygote (HBB:c.92 + 5G > C/HBB:c.93-2A > C) case of thalassaemia major. International Journal of Laboratory Hematology, 32 (3). pp. 369-372. ISSN 1751-5521

Girisha, K.M. and Vahab, S.A. and Dalal, Ashwin and Gopinath, P.M. and Satyamoorthy, K. (2010) Compound heterozygosity for HbD Punjab and polyadenylation signal mutation causes clinically asymptomatic mild hypochromia and microcytosis. Annals of Hematology, 89 (6). pp. 625-626. ISSN 0939-5555

Priya, T.P. and Philip, N. and Molho-Pessach, V. and Busa, T. and Dalal, Ashwin and Zlotogorski, A. (2010) H syndrome: novel and recurrent mutations inSLC29A3. British Journal of Dermatology, 162 (5). pp. 1132-1134. ISSN 0007-0963

Dalal, Ashwin and Mehrotra, R.N. (2009) Hypertrichosis, hyperkeratosis and mental retardation syndrome: further delineation of phenotype. Clinical Dysmorphology, 18 (2). pp. 83-84. ISSN 0962-8827