• Quality Issues in Medical Genetics Laboratories: "What a Clinician Needs to Know?"

  2026 · Indian journal of pediatrics

  Dutta UR, Shukla R, Verma J, Dalal A

• Experience of Prenatal Diagnosis for β-Thalassemia and Major Hemoglobinopathies in the Last Decade from Seven Tertiary-Care Referral Centers in India

  2026 · Indian journal of pediatrics

  Das R, Nadkarni A, Kohli S, Sharma P, Singh A, Saxena D, Dalal A, et al.

• Expanding the Phenotypic Spectrum of Syndromic Arthrogryposis Multiplex Congenita: Role of Biallelic Variants in COL25A1 Across Fetal and Pediatric Periods

  2026 · Indian journal of pediatrics

  Nerakh G, Kar A, Rathod S, Pal P, George JK, Das Bhowmik A, Tallapaka KB, Dalal A

• Spinal Muscular Atrophy in Adult Neurology Services in India

  2026 · Clinical genetics

  Mustafa F, Macken WL, Wilson LA, Rani N, Agarwal A, Garg A, Dalal A, et al.

• Spinal muscular atrophy in India: Patient journey, access to care, treatment barriers, and strategic recommendations: Insights from experts

  2026 · Journal of neuromuscular diseases

  Gulati S, Kanth AN, Dalal A, Chhajed M, Patel N, Jamdade S, et al.

• Clinical, biochemical and molecular spectrum of acute neuronopathic type 2 Gaucher disease from India

  2026 · BMC pediatrics

  Sheth J, Nair A, Bhavsar R, Muranjan M, Nampoothiri S, Yesodharan D, Dalal A, et al.

• Integrative approach for delineating structural variants using optical genome mapping and long-read genome sequencing

  2026 · Molecular biology reports

  Dutta UR, Ramgopal K, Bhanu ND, Ahmed U, Ponnala R, Sirineni R, Rani SV, Dalal A

• Progressive Pseudorheumatoid Dysplasia

  2026 ·

  Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Dalal A, et al.

• Skewed X-Chromosome Inactivation in a Child with Fungal Pneumonia and a Pathogenic de novo CYBB Variant

  2026 · Indian journal of pediatrics

  Saravanan P, Anirudhan D, Choorapulakkal S, Edavazhippurath A, Manakkad SP, Yasmin J, Dalal A, et al.

• Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine

  2026 · Orphanet journal of rare diseases

  Sheth J, Nair A, Bhavsar R, Kamate M, Gowda VK, Bavdekar A, Dalal A, et al.

• Deciphering the Structural Variants by Long-Read Genome Sequencing: Technology, Applications, and Case Illustrations

  2026 · Cytogenetic and genome research

  Dutta UR, Dalal A

• CEP72 Emerges as a Key Centriolar Satellite Protein in Health and Disease

  2025 · Cytoskeleton (Hoboken, N.J.)

  Tyagi S, Arora A, Ranganath P, Dalal A

• A Decade of Prenatal Genetic Diagnostics: Insights From 1949 Cases at a Medical Genetics Facility in South India

  2025 · Prenatal diagnosis

  Balasubramanian R, Koneru P, Chinchilam HP, Ramachandran A, Dutta UR, Ponnala R, Dalal A, et al.

• Kennedy's disease from India: An Indian Cohort with multisystemic manifestations

  2025 · Journal of neuromuscular diseases

  Gomathy SB, Macken WL, Rani N, Agarwal A, Singh R, Dhamne M, Dalal A, et al.

• Author Correction: Mapping genetic diversity with the GenomeIndia project

  2025 · Nature genetics

  Bhattacharyya C, Subramanian K, Uppili B, Biswas NK, Ramdas S, Tallapaka KB, Dalal A, et al.

• Reanalysis of Exome Sequencing Data in the Indian Undiagnosed Diseases Program: Improving Diagnostic Yield and Ending Diagnostic Odyssey

  2025 · Clinical genetics

  Garg N, Lakshmi P, Singh SM, Kulshreshta S, Ranganath P, Moirangthem A, Dalal A, et al.

• Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia

  2025 · European journal of human genetics : EJHG

  Jacob P, Singh S, Bhavani GS, Gowrishankar K, Narayanan DL, Nampoothiri S, Dalal A, et al.

• Corrigendum to "Integrated genomic, proteomic and cognitive assessment in Duchenne Muscular Dystrophy suggest astrocyte centric pathology" [Heliyon Volume 9, Issue 8, August 2023, Article e18530]

  2025 · Heliyon

  Wijekoon N, Gonawala L, Ratnayake P, Dissanayaka P, Gunarathne I, Amaratunga D, Dalal A, et al.

• A Novel Variant c.149G>A in CDK5 Gene Causing Lissencephaly Type 7

  2025 · Clinical genetics

  Moirangthem A, Kar A, Sagar M, Das N, Maurya RK, Dhakad A, Kaur R, Dalal A

• A Novel FGFR1 Mutation Causing Familial Normosmic Hypogonadotropic Hypogonadism in Three Sisters

  2025 · Journal of obstetrics and gynaecology of India

  Gupta A, Kar A, Dalal A, Dhanvij M, Gangane N, Mundle S

• Mapping genetic diversity with the GenomeIndia project

  2025 · Nature genetics

  Bhattacharyya C, Subramanian K, Uppili B, Biswas NK, Ramdas S, Tallapaka KB, Dalal A, et al.

• Serum metabolomic signatures of patients with rare neurogenetic diseases: an insight into potential biomarkers and treatment targets

  2025 · Frontiers in molecular neuroscience

  Wijekoon N, Gonawala L, Ratnayake P, Sirisena D, Gunasekara H, Dissanayake A, Dalal A, et al.

• Functional Characterization of Thyroid Peroxidase Missense Variants Causing Thyroid Dyshormonogenesis in Asian Indian Population

  2025 · Hormone research in paediatrics

  Dalal A, Sarma AS, Desai A, Rao M, Sahoo JP, Shivaprasad C, et al.

• A unique case of hyperammonemia due to CA5A deficiency: Impact of coexisting gene mutations, pseudogene, and microdeletion

  2024 · American journal of medical genetics. Part A

  Mathew RP, Ranya Raghavendra P, Disha B, Dalal A, Govindaraj P

• Short stature and dysmorphic features in Asian Indian siblings with DAAM2-associated steroid-resistant nephrotic syndrome: Expansion of the phenotypic spectrum or a blended phenotype?

  2024 · Clinical genetics

  Pragna Lakshmi T, Saini N, Shah MA, Gowrishankar S, Dalal A, Ranganath P

• Diagnostic outcome of pro bono neurogenetic diagnostic service in Sri Lanka: A wealth creation

  2024 · European journal of human genetics : EJHG

  Gonawala L, Wijekoon N, Attanayake D, Ratnayake P, Sirisena D, Gunasekara H, Dalal A, et al.

• SERPINA11 related novel serpinopathy - A perinatal lethal disorder

  2024 · Clinical genetics

  Aggarwal S, Vineeth VS, Padwal SS, Bhat SA, Singh A, Kulkarni A, Dalal A, et al.

• Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia

  2024 · American journal of medical genetics. Part A

  Singh S, Shah H, Dalal A, Shukla A, Bhavani GS, Girisha KM

• DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations

  2024 · Genetics in medicine : official journal of the American College of Medical Genetics

  Lavillaureix A, Rollier P, Kim A, Panasenkava V, De Tayrac M, Carré W, Dalal A, et al.

• PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome in an Indian patient

  2024 · American journal of medical genetics. Part A

  Sithambaram S, Jacob P, Neethukrishna K, Bhavani GS, Dalal A, Shah H, Girisha KM

• Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India

  2024 · Human genomics

  Sheth H, Nair A, Bhavsar R, Kamate M, Gowda VK, Bavdekar A, Dalal A, et al.

• Mitochondria in biology and medicine - 2023

  2024 · Mitochondrion

  Disha B, Mathew RP, Dalal AB, Mahato AK, Satyamoorthy K, Singh KK, Thangaraj K, Govindaraj P

• Basan syndrome in a family from South India: a novel SMARCAD1 variant

  2024 · Clinical and experimental dermatology

  Mathews I, Wagh S, Baby A, Chandrashekar L, Dalal A

• Etiologic Spectrum of Pediatric-Onset Leukodystrophies and Genetic Leukoencephalopathies: The Five-Year Experience of a Tertiary Care Center in Southern India

  2024 · Pediatric neurology

  Nair LS, Nurul Jain JM, Dalal A, Ranganath P

• Title-molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions: an insight from a South Asian resource limited setting

  2024 · European journal of medical research

  Wijekoon N, Gonawala L, Ratnayake P, Liyanage R, Amaratunga D, Hathout Y, Dalal A, et al.

• Rare genetic diseases in India: Steps toward a nationwide mission program

  2024 · Journal of biosciences

  Kar A, P S, Dalal A

• Identification of a Novel Variant c.163delG in HBB Gene Resulting in a Beta Null Phenotype in a Proband with Thalassemia Intermedia

  2024 · Hemoglobin

  Mamata M, Padma G, Pragna Laxmi T, Saroja K, Ashwin D, Suman J

• Neuromuscular disease genetics in under-represented populations: increasing data diversity

  2023 · Brain : a journal of neurology

  Wilson LA, Macken WL, Perry LD, Record CJ, Schon KR, Frezatti RSS, Dalal A, et al.

• Exome Sequencing in Monogenic Forms of Rickets

  2023 · Indian journal of pediatrics

  Jacob P, Bhavani GS, Udupa P, Wang Z, Hariharan SV, Delampady K, Dalal A, et al.

• Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13

  2023 · NPJ genomic medicine

  Jacob P, Lindelöf H, Rustad CF, Sutton VR, Moosa S, Udupa P, Dalal A, et al.

• Identification of three novel mutations in SLCO2A1 in Asian-Indians with Pachydermoperiostosis

  2023 · The Indian journal of medical research

  Pasumarthi D, Ranganath P, Mandal K, Lakshmi ND, Dalal A, Aggarwal S

• Duchenne Muscular Dystrophy from Brain to Muscle: The Role of Brain Dystrophin Isoforms in Motor Functions

  2023 · Journal of clinical medicine

  Wijekoon N, Gonawala L, Ratnayake P, Amaratunga D, Hathout Y, Mohan C, Dalal A, et al.

• Integrated genomic, proteomic and cognitive assessment in Duchenne Muscular Dystrophy suggest astrocyte centric pathology

  2023 · Heliyon

  Wijekoon N, Gonawala L, Ratnayake P, Dissanayaka P, Gunarathne I, Amaratunga D, Dalal A, et al.

• Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum

  2023 · Genetics in medicine : official journal of the American College of Medical Genetics

  Priestley JRC, Deshwar AR, Murthy H, D'Agostino MD, Dupuis L, Gangaram B, Dalal A, et al.

• Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?

  2023 · European journal of medical genetics

  Sarma AS, Peter Mathew R, Dalal A, Bhat V, Patil SJ

• A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81

  2023 · The journal of gene medicine

  Sarma AS, Siddardha B, T PL, Ranganath P, Dalal A

• Long-range PCR amplification-based targeted enrichment & next generation sequencing: A cost-effective testing strategy for lysosomal storage disorders

  2023 · The Indian journal of medical research

  Vanaja MC, Nurul Jain JM, Dalal A, Ranganath P

• Gene therapy for selected neuromuscular and trinucleotide repeat disorders - An insight to subsume South Asia for multicenter clinical trials

  2023 · IBRO neuroscience reports

  Wijekoon N, Gonawala L, Ratnayake P, Sirisena D, Gunasekara H, Dissanayake A, Dalal A, et al.

• Genotype first approach & familial segregation analysis help in the elucidation of disease-causing variant for fucosidosis

  2023 · The Indian journal of medical research

  Bhattacherjee A, Desa E, Lone KA, Jaiswal A, Tyagi S, Dalal A

• Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis

  2023 · Journal of human genetics

  Udupa P, Ghosh DK, Kausthubham N, Shah H, Bartakke S, Dalal A, Girisha KM, Bhavani GS

• Does Every Child With Autism Need Investigations for Inborn Errors of Metabolism?

  2023 · Indian pediatrics

  Ranganath P, Dalal A

• Next Generation Sequencing in a Case of Early Onset Hydrops: Closing the Loop on the Diagnostic Odyssey!

  2023 · Fetal and pediatric pathology

  Ranganath P, Vs V, Rungsung I, Dalal A, Aggarwal S

• Muscle spasms as presenting feature of Nivelon-Nivelon-Mabile syndrome

  2023 · American journal of medical genetics. Part A

  Saini N, Das Bhowmik A, Yareeda S, Venkatapuram V, Jabeen SA, Tallapaka K, Dalal A, Aggarwal S

• Cytogenomic Characterization of a Novel de novo Balanced Reciprocal Translocation t(1;12) by Genome Sequencing Leading to Fusion Gene Formation of EYA3/EFCAB4b

  2022 · Molecular syndromology

  Dutta UR, Bhattacherjee A, Bahal A, Posanapally LP, Lone KA, Bathula S, Dalal A

• Prenatal phenotype of FBXL4-associated encephalomyopathic mitochondrial DNA depletion syndrome-13

  2022 · Prenatal diagnosis

  Saini N, Vijayasree V, Nandury EC, Dalal A, Aggarwal S

• A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth-Lazarus syndrome

  2022 · European journal of medical genetics

  Sarma AS, Banda L, Rao Vupputuri M, Desai A, Dalal A

• Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum

  2022 · American journal of medical genetics. Part A

  Nerakh G, Vineeth VS, Tallapaka K, Nair L, Dalal A, Aggarwal S

• Transmission of B.1.617.2 Delta variant between vaccinated healthcare workers

  2022 · Scientific reports

  Kemp SA, Cheng MTK, Hamilton WL, Kamelian K, Indian SARS-CoV-2 Genomics Consortium (INSACOG), Singh S, et al.

• Fetal phenotypes of Mendelian disorders: A descriptive study from India

  2022 · Prenatal diagnosis

  Saini N, Venkatapuram VS, Vineeth VS, Kulkarni A, Tandon A, Koppolu G, Dalal A, et al.

• Clinical and Molecular Spectrum of Degenerative Cerebellar Ataxia: A Single Centre Study

  2022 · Neurology India

  Balakrishnan S, Aggarwal S, Muthulakshmi M, Meena AK, Borgohain R, Mridula KR, Dalal A, et al.

• Indian Undiagnosed Diseases Program (I-UDP) - The Unmet Need

  2022 · Indian pediatrics

  Puri RD, Dalal A, Moirangthem A

• Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II

  2022 · European journal of medical genetics

  Agrawal N, Verma G, Saxena D, Kabra M, Gupta N, Mandal K, Dalal A, et al.

• Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India

  2022 · American journal of medical genetics. Part A

  Chaudhary AK, Gholse A, Nagarajaram HA, Dalal AB, Gupta N, Dutta AK, et al.

• Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90

  2022 · European journal of medical genetics

  Narayanan DL, Majethia P, Shrikiran A, Siddiqui S, Dalal A, Shukla A

• Genomic characterization and epidemiology of an emerging SARS-CoV-2 variant in Delhi, India

  2021 · Science (New York, N.Y.)

  Dhar MS, Marwal R, Vs R, Ponnusamy K, Jolly B, Bhoyar RC, Dalal A, et al.

• Rare mutation in ELOVL4 gene in SCA34 and cognitive affection: Expounding the role of cerebellum

  2021 · Clinical neurology and neurosurgery

  Mukherjee S, Roy M, Ghosh S, Guha G, Prasad Saha S, Dalal A

• SARS-CoV-2 B.1.617.2 Delta variant replication and immune evasion

  2021 · Nature

  Mlcochova P, Kemp SA, Dhar MS, Papa G, Meng B, Ferreira IATM, et al.

• Report of an Asian-Indian patient with Okur-Chung Syndrome and comparison of the clinical phenotype in different ethnic groups

  2021 · Clinical dysmorphology

  Ranganath P, Ranganath P, Vineeth VS, Dalal A, Patil SJ

• Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency

  2021 · Human mutation

  Deshpande D, Gupta SK, Sarma AS, Ranganath P, Jain S JMN, Sheth J, Dalal AB, et al.

• A patient with POLA1 splice variant expands the yet evolving phenotype of Van Esch O'Driscoll syndrome

  2021 · European journal of medical genetics

  Endrakanti M, Saluja S, Ethayathulla AS, Sapra S, Dalal A, Palanichamy JK, Gupta N

• Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis

  2021 · European journal of medical genetics

  Sait H, Srivastava P, Gupta N, Kabra M, Kapoor S, Ranganath P, Dalal A, et al.

• A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis

  2021 · European journal of medical genetics

  Knapp KM, Fellows B, Aggarwal S, Dalal A, Bicknell LS

• A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians

  2021 · Human mutation

  Kausthubham N, Shukla A, Gupta N, Bhavani GS, Kulshrestha S, Das Bhowmik A, Dalal A, et al.

• A comprehensive profile of genomic variations in the SARS-CoV-2 isolates from the state of Telangana, India

  2021 · The Journal of general virology

  Gupta A, Sabarinathan R, Bala P, Donipadi V, Vashisht D, Katika MR, Dalal A, et al.

• Association analysis of FMR1 genetic variants and primary ovarian insufficiency in South Indian women with a novel approach of CGG repeats classification

  2020 · European journal of medical genetics

  Komaravalli PL, Rani S V, Dalal A, Jahan P

• Untapped opportunities for rare disease gene discovery in India

  2020 · American journal of medical genetics. Part A

  Girisha KM, Pande S, Dalal A, Phadke SR

• Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients

  2020 · JIMD reports

  Nampoothiri S, Yesodharan D, Bhattacherjee A, Ahamed H, Puri RD, Gupta N, Dalal A, et al.

• Cytogenetic and molecular study of 370 infertile men in South India highlighting the importance of copy number variations by multiplex ligation-dependent probe amplification

  2020 · Andrologia

  Dutta UR, Suttur MS, Venugopal VS, Posanapally LP, Gopalasetty S, Talwar S, Dalal A, et al.

• Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III

  2020 · Journal of human genetics

  Pasumarthi D, Gupta N, Sheth J, Jain SJMN, Rungsung I, Kabra M, Dalal A, et al.

• Recurrent ADCY5 Mutation in Mosaic Form with Nocturnal Paroxysmal Dyskinesias and Video Electroencephalography Documentation of Dramatic Response to Caffeine Treatment

  2020 · Journal of movement disorders

  Shetty K, Sarma AS, Devan M, Dalal A, Dash GK, Jannabhatla A, Patil SJ

• What We Fail to See in Neuro-Genetic Diseases: A Bird's Eye View from the Developing World

  2020 · Annals of neurosciences

  Samaranayake N, Dissanayaka P, Gunarathna I, Gonawala L, Wijekoon N, Rathnayake P, Dalal A, et al.

• A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4

  2020 · European journal of human genetics : EJHG

  Ranganath P, Perala S, Nair L, Pamu PK, Shankar A, Murugan S, Dalal A

• Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients

  2020 · Molecular genetics and metabolism reports

  Arora V, Setia N, Dalal A, Vanaja MC, Gupta D, Razdan T, et al.

• Exome sequencing for perinatal phenotypes: The significance of deep phenotyping

  2020 · Prenatal diagnosis

  Aggarwal S, Vineeth VS, Das Bhowmik A, Tandon A, Kulkarni A, Narayanan DL, Bhattacherjee A, Dalal A

• Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children

  2019 · Indian pediatrics

  Narayanan DL, Ranganath P, Aggarwal S, Dalal A, Phadke SR, Mandal K

• Repurposing Pathogenic Variants of DMD Gene and its Isoforms for DMD Exon Skipping Intervention

  2019 · Current genomics

  Tyagi R, Kumar S, Dalal A, Mohammed F, Mohanty M, Kaur P, Anand A

• Mosaic paternal uniparental isodisomy of 15q11-q13 region causing Angelman phenotype

  2019 · Clinical dysmorphology

  Narayanan DL, Ranganath P, Balakrishnan S, Dalal A

• Breakpoint mapping of a novel de novo translocation t(X;20)(q11.1;p13) by positional cloning and long read sequencing

  2019 · Genomics

  Dutta UR, Rao SN, Pidugu VK, V S V, Bhattacherjee A, Bhowmik AD, Dalal A, et al.

• Myriad Faces of Chronic Granulomatous Disease: All in an Indian Family with Novel CYBB Defect

  2019 · Journal of clinical immunology

  Vignesh P, Sharma M, Pilania RK, Shandilya JK, Kaur A, Goel S, Dalal A, et al.

• Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India

  2019 · Indian pediatrics

  Tallapaka K, Ranganath P, Ramachandran A, Uppin MS, Perala S, Aggarwal S, Dalal AB, et al.

• Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned?

  2019 · Molecular syndromology

  Tallapaka K, Aggarwal S, Bhattacherjee A, Das Bhowmik A, Dalal A

• Determining the Cause of Recurrent Miscarriages in a Couple: Importance of NOR in the Era of NGS

  2019 · Journal of reproduction & infertility

  Dutta UR, Swamy V, Ponnala R, Aggarwal S, Dalal A

• Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy

  2019 · Journal of human genetics

  Narayanan DL, Matta D, Gupta N, Kabra M, Ranganath P, Aggarwal S, Dalal A, et al.

• Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

  2019 · BMC medical genetics

  Sheth J, Bhavsar R, Mistri M, Pancholi D, Bavdekar A, Dalal A, et al.

• Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism

  2019 · Journal of human genetics

  Vineeth VS, Das Bhowmik A, Balakrishnan S, Dalal A, Aggarwal S

• Exome sequencing identifies novel ACE splice-site variant in a fetus with renal tubular dysgenesis

  2018 · The journal of obstetrics and gynaecology research

  Das Bhowmik A, Dalal A, Tandon A, Aggarwal S

• Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures

  2018 · Gene

  Vineeth VS, Dutta UR, Tallapaka K, Das Bhowmik A, Dalal A

• Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79

  2018 · Journal of human genetics

  Das Bhowmik A, Patil SJ, Deshpande DV, Bhat V, Dalal A

• "Twig-like" cerebral vessels are not pathognomonic for ACTA A2 mutations: A case report

  2018 · Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences

  Nagarajan K, Swamiappan E, Anbazhagan S, Dalal A, Adithan S, Krings T

• Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus

  2018 · European journal of medical genetics

  Aggarwal S, Das Bhowmik A, Tandon A, Dalal A

• Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene

  2018 · American journal of medical genetics. Part A

  Patil SJ, Das Bhowmik A, Bhat V, Satidevi Vineeth V, Vasudevamurthy R, Dalal A

• Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype

  2018 · American journal of medical genetics. Part A

  Tallapaka K, Venugopal V, Dalal A, Aggarwal S

• 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

  2018 · Hemoglobin

  Godbole KG, Ramachandran A, Karkamkar AS, Dalal AB

• 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

  2018 · Indian pediatrics

  Puri RD, Kapoor S, Kishnani PS, Dalal A, Gupta N, Muranjan M, et al.

• A Dysmorphology Based Systematic Approach Toward Perinatal Genetic Diagnosis in a Fetal Autopsy Series

  2018 · Fetal and pediatric pathology

  Aggarwal S, Tandon A, Das Bhowmik A, Safarulla JMNJ, Dalal A

• Autopsy findings in EPG5-related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus

  2018 · American journal of medical genetics. Part A

  Aggarwal S, Tandon A, Bhowmik AD, Dalal A

• Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis

  2018 · Journal of human genetics

  Shukla A, Das Bhowmik A, Hebbar M, Rajagopal KV, Girisha KM, Gupta N, Dalal A

• Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly

  2018 · American journal of medical genetics. Part A

  Kar A, Phadke SR, Das Bhowmik A, Dalal A

• Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation

  2018 · American journal of medical genetics. Part A

  Das Bhowmik A, Salem Ramakumaran V, Dalal A

• Familial choreoathetosis due to novel heterozygous mutation in PDE10A

  2018 · American journal of medical genetics. Part A

  Narayanan DL, Deshpande D, Das Bhowmik A, Varma DR, Dalal A

• Look Up to Diagnose Down!

  2017 · Indian journal of pediatrics

  Francis F, Bhat V, Balachander B, Khare C, Bethou A, Dalal A, Ponnala R

• Variable Expressivity and Response to Bisphosphonate Therapy in a Family with Osteoporosis Pseudoglioma Syndrome

  2017 · Indian pediatrics

  Tallapaka KB, Ranganath P, Dalal A

• ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation

  2017 · Neurology. Genetics

  Alber M, Kalscheuer VM, Marco E, Sherr E, Lesca G, Till M, Dalal AB, et al.

• Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity

  2017 · Obesity research & clinical practice

  Das Bhowmik A, Gupta N, Dalal A, Kabra M

• Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI)

  2017 · Gene

  Uttarilli A, Pasumarthi D, Ranganath P, Dalal AB

• Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

  2017 · American journal of human genetics

  Harms FL, Girisha KM, Hardigan AA, Kortüm F, Shukla A, Alawi M, Dalal A, et al.

• Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux

  2016 · Journal of genetics

  Srivastava P, Tuteja M, Dalal A, Mandal K, R Phadke S

• Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing

  2016 · Neuromuscular disorders : NMD

  Das Bhowmik A, Dalal A, Matta D, Kandadai RM, Kanikannan MA, Aggarwal S

• Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease

  2016 · American journal of medical genetics. Part A

  Ranganath P, Matta D, Bhavani GS, Wangnekar S, Jain JM, Verma IC, Dalal A, et al.

• Brothers with constrictive pericarditis - A novel mutation in a rare disease

  2016 · Indian heart journal

  Patil DV, Phadke MS, Pahwa JS, Dalal AB

• Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C

  2016 · American journal of medical genetics. Part A

  Hebbar M, Prasada L H, Bhowmik AD, Trujillano D, Shukla A, Chakraborti S, Dalal A, et al.

• A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

  2016 · European journal of human genetics : EJHG

  Girisha KM, Kortüm F, Shah H, Alawi M, Dalal A, Bhavani GS, Kutsche K

• A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum

  2016 · American journal of medical genetics. Part A

  Aggarwal S, Bhowmik AD, Ramprasad VL, Murugan S, Dalal A

• Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders

  2016 · American journal of medical genetics. Part A

  Phadke SR, Kar A, Bhowmik AD, Dalal A

• Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient

  2016 · Indian journal of pediatrics

  Bhowmik AD, Dalal AB, Matta D, Sundaram C, Aggarwal S

• Dental stem cells: Hope or hype?

  2016 · Indian journal of dental research : official publication of Indian Society for Dental Research

  Dalal A

• Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy

  2016 · American journal of medical genetics. Part A

  Bhavani GS, Shah H, Shukla A, Gupta N, Gowrishankar K, Rao AP, Dalal A, et al.

• Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature

  2016 · European journal of medical genetics

  Aggarwal S, Bahal A, Dalal A

• Variability in the Manifestations and Evolution of Symptoms in a Patient with H Syndrome

  2016 · Indian journal of pediatrics

  Deshpande R, Parthasarathy L, Dalal A, Khadilkar V, Khadilkar A

• Identification of Promotor and Exonic Variations, and Functional Characterization of a Splice Site Mutation in Indian Patients with Unconjugated Hyperbilirubinemia

  2015 · PloS one

  Gupta N, Benjamin M, Kar A, Munjal SD, Sarangi AN, Dalal A, Aggarwal R

• Whole exome sequencing identifies a novel frameshift mutation in GPC3 gene in a patient with overgrowth syndrome

  2015 · Gene

  Das Bhowmik A, Dalal A

• Molecular studies on parents after autopsy identify recombinant GBA gene in a case of Gaucher disease with ichthyosis phenotype

  2015 · American journal of medical genetics. Part A

  Aggarwal S, Jain SJ, Bhowmik AD, Tandon A, Dalal A

• Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI

  2015 · The Indian journal of medical research

  Uttarilli A, Ranganath P, Jain SJ, Prasad CK, Sinha A, Verma IC, Dalal AB, et al.

• Novel and recurrent mutations in WISP3 and an atypical phenotype

  2015 · American journal of medical genetics. Part A

  Bhavani GS, Shah H, Dalal AB, Shukla A, Danda S, Aggarwal S, et al.

• Recurrent and novel GLB1 mutations in India

  2015 · Gene

  Bidchol AM, Dalal A, Trivedi R, Shukla A, Nampoothiri S, Sankar VH, et al.

• Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family

  2015 · The Indian journal of medical research

  Dalal A, Bhowmik AD, Agarwal D, Phadke SR

• Hunter syndrome with late age of presentation: clinical description of a case and review of the literature

  2015 · BMJ case reports

  Gupta A, Uttarilli A, Dalal A, Girisha KM

• Molecular genetic analysis of trinucleotide repeat disorders (TRDs) in Indian population and application of repeat primed PCR

  2015 · European journal of medical genetics

  Das Bhowmik A, Rangaswamaiah S, Srinivas G, Dalal AB

• Novel ABCA12 mutations in harlequin ichthyosis: a journey from photo diagnosis to prenatal diagnosis

  2015 · Gene

  Aggarwal S, Kar A, Bland P, Kelsell D, Dalal A

• Mutations in patients with osteogenesis imperfecta from consanguineous Indian families

  2015 · European journal of medical genetics

  Stephen J, Girisha KM, Dalal A, Shukla A, Shah H, Srivastava P, Kornak U, Phadke SR

• Prenatal diagnosis in India is not limited to sex selection

  2015 · Genetics in medicine : official journal of the American College of Medical Genetics

  Dalal AB, Ranganath P, Phadke SR, Kabra M, Danda S, Puri RD, et al.

• GALNS mutations in Indian patients with mucopolysaccharidosis IVA

  2014 · American journal of medical genetics. Part A

  Bidchol AM, Dalal A, Shah H, S S, Nampoothiri S, Kabra M, et al.

• Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome

  2014 · The Indian journal of medical research

  Nandagopalan RS, Phadke SR, Dalal AB, Ranganath P

• Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation

  2014 · Gene

  Aggarwal S, Coutinho MF, Dalal AB, Mohamed Nurul Jain SJ, Prata MJ, Alves S

• Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations

  2014 · American journal of medical genetics. Part A

  Kantaputra PN, Kayserili H, Guven Y, Kantaputra W, Balci MC, Tanpaiboon P, Dalal A, et al.

• Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta

  2014 · American journal of medical genetics. Part A

  Stephen J, Shukla A, Dalal A, Girisha KM, Shah H, Gupta N, et al.

• A novel combined 15q11.2 duplication and a bisatellited supernumerary marker derived from chromosome 22: molecular characterization of the marker

  2014 · Gene

  Dutta UR, Vempally S, Ranganath P, Dalal A

• A Novel de novo Balanced Reciprocal Translocation t(18;22) Associated with Recurrent Miscarriages: A Case Report

  2014 · Journal of reproduction & infertility

  Dutta UR, Ponnala R, Dalal A

• Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India

  2014 · Journal of cellular biochemistry

  Bashyam MD, Chaudhary AK, Kiran M, Nagarajaram HA, Devi RR, Ranganath P, Dalal A, et al.

• Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI

  2014 · Journal of inherited metabolic disease

  Kantaputra PN, Kayserili H, Güven Y, Kantaputra W, Balci MC, Tanpaiboon P, Uttarilli A, Dalal A

• Molecular cytogenetic characterization of chromosomal rearrangements - utility in genetic counseling and research

  2014 · Molecular cytogenetics

  Dalal A

• A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia

  2014 · Journal of child neurology

  Love JM, Prosser D, Love DR, Chintakindi KP, Dalal AB, Aggarwal S

• GAPO syndrome with deafness: new feature or incidental finding?

  2013 · Clinical dysmorphology

  Aggarwal S, Uttarilli A, Dalal AB

• 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

  2013 · Documenta ophthalmologica. Advances in ophthalmology

  Muthugaduru DJ, Sahu C, Ali MJ, Dalal A, Jalali S

• Chromosomal abnormalities in amenorrhea: a retrospective study and review of 637 patients in South India

  2013 · Archives of Iranian medicine

  Dutta UR, Ponnala R, Pidugu VK, Dalal AB

• Identification and molecular cytogenetic characterization of a novel complex Y chromosome rearrangement in a boy with disorder of sexual development

  2013 · Gene

  Dutta UR, Pidugu VK, Goud ChV, Hoefers C, Hagemann M, Dalal A

• Congenital metacarpal pseudoarthrosis, cleft palate, short stature, advanced bone age, and genu valgum: a new syndrome or a variant of Devriendt syndrome?

  2013 · Clinical dysmorphology

  Ranganath P, Dalal AB

• Molecular diagnostics

  2013 · BioMed research international

  Kesari A, Dalal A, Lal G, Pandey SN

• Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India

  2012 · The Indian journal of medical research

  Ranganath P, Sharma V, Danda S, Nandineni MR, Dalal AB

• R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease

  2012 · BMJ case reports

  Aneja A, Sharma A, Dalal A, Sondhi V

• Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia

  2012 · American journal of medical genetics. Part A

  Dalal A, Bhavani G SL, Togarrati PP, Bierhals T, Nandineni MR, Danda S, et al.

• Spectrum of Lysosomal storage disorders at a medical genetics center in northern India

  2012 · Indian pediatrics

  Verma PK, Ranganath P, Dalal AB, Phadke SR

• Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β

  2012 · Journal of cellular biochemistry

  Bashyam MD, Chaudhary AK, Sinha M, Nagarajaram HA, Devi AR, Bashyam L, Reddy EC, Dalal A

• Tuberous sclerosis: diagnosis and prenatal diagnosis by MLPA

  2012 · Indian journal of pediatrics

  Padma Priya T, Dalal AB

• Molecular and cytogenetic characterization of two patients with recurrent miscarriages and X-autosome translocation

  2012 · Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences

  Dutta UR, Pidugu VK, Dalal AB

• Confirmation of the Zechi-Ceide syndrome

  2012 · American journal of medical genetics. Part A

  Patil SJ, Bhat V, Dalal A, Santosh JS

• Mosaic trisomy 9 presenting with congenital heart disease, facial dysmorphism and pigmentary skin lesions: intricate issues of genetic counseling

  2012 · Indian journal of pediatrics

  Patil SJ, Ponnala R, Shah S, Dalal A

• Mosaic down syndrome with a marker: molecular cytogenetic characterization of the marker chromosome

  2012 · Gene

  Dutta UR, Pidugu VK, Goud V, Dalal AB

• Molecular cytogenetic characterization of a non-robertsonian dicentric chromosome 14;19 identified in a girl with short stature and amenorrhea

  2012 · Case reports in genetics

  Dutta UR, Pidugu VK, Dalal A

• Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy

  2012 · Indian journal of human genetics

  Verma PK, Dalal A, Mittal B, Phadke SR

• Sickle cell anemia--molecular diagnosis and prenatal counseling: SGPGI experience

  2012 · Indian journal of pediatrics

  Kumar R, Panigrahi I, Dalal A, Agarwal S

• Partial monosomy 7q

  2011 · Indian pediatrics

  Ponnala R, Dalal A

• Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in southern region of India: report and review

  2011 · Journal of assisted reproduction and genetics

  Dutta UR, Rajitha P, Pidugu VK, Dalal AB

• Giuffrè-Tsukahara syndrome: Evidence for X-linked dominant inheritance and review

  2010 · American journal of medical genetics. Part A

  Dalal AB, Sarkar A, Priya TP, Nandineni MR

• Compound heterozygosity for HbD Punjab and polyadenylation signal mutation causes clinically asymptomatic mild hypochromia and microcytosis

  2010 · Annals of hematology

  Girisha KM, Vahab SA, Dalal AB, Gopinath PM, Satyamoorthy K

• A novel beta-globin mutation (HBB:c.107A>G; or codon 35 beta (A-->G)) at alpha-beta chain interfaces

  2009 · Annals of hematology

  Kumar R, Tamhankar PM, Panigrahi I, Dalal A, Agarwal S

• Hypertrichosis, hyperkeratosis and mental retardation syndrome: further delineation of phenotype

  2009 · Clinical dysmorphology

  Dalal A, Mehrotra RN

• Fetal left ventricular diverticulum presenting as dysrhythmia: diagnosis and management

  2008 · Fetal diagnosis and therapy

  Pradhan M, Dalal A, Kapoor A, Kumar S, Manisha R

• Morphometric analysis of face in dysmorphology

  2007 · Computer methods and programs in biomedicine

  Dalal AB, Phadke SR

• Short stature, ulnar deviation of hands with absent carpals and joint contractures: a new syndrome

  2007 · Clinical dysmorphology

  Phadke SR, Dalal A

• MTHFR 677C-->T and 1298A-->C polymorphisms: evaluation of maternal genotypic risk and association with level of neural tube defect

  2007 · Gynecologic and obstetric investigation

  Dalal A, Pradhan M, Tiwari D, Behari S, Singh U, Mallik GK, Das V, Agarwal S

• Fertility in men with Down syndrome: a case report

  2006 · Fertility and sterility

  Pradhan M, Dalal A, Khan F, Agrawal S

• Handless, footless fetus

  2006 · Clinical dysmorphology

  Phadke SR, Girisha KM, Dalal A

• Association of coronary artery disease with polymorphisms of angiotensin-converting enzyme and methylenetetrahydrofolate reductase gene

  2006 · Indian heart journal

  Dalal AB, Tewari D, Tewari S, Sharma MK, Pradhan M, Gupta UR, Sinha N, Agarwal S

• Hemihyperplasia syndromes

  2006 · Indian journal of pediatrics

  Dalal AB, Phadke SR, Pradhan M, Sharda S

• Urorectal septum malformation presenting as nonimmune hydrops fetalis

  2006 · Prenatal diagnosis

  Mandakini P, Ashwin D, Manisha R, Sankar VH, Niraj K, Narendra K, Janak K

• Twin pregnancy with Roberts syndrome in one fetus and trisomy 18 in the other

  2006 · Journal of clinical ultrasound : JCU

  Dalal AB, Phadke SR

• Hemihyperplasia with Ehlers-Danlos syndrome like skin changes

  2005 · Clinical dysmorphology

  Dalal A, Phadke SR

• Immunization status of children in Goa

  2005 · Indian pediatrics

  Dalal A, Silveira MP