All Stories

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

    Article • Current Genomics, January 2020, Bentham Science Publishers

    Dr ASHWIN DALAL, Akshay Anand, Rahul Tyagi

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

    Article • American Journal of Medical Genetics Part A, April 2018, Wiley

    Dr Venkatraman Bhat, Dr ASHWIN DALAL

  3. 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

    Article • Hemoglobin, April 2018, Taylor & Francis

    Dr ASHWIN DALAL

  4. Corrigendum

    Article • Hemoglobin, March 2018, Taylor & Francis

    Dr ASHWIN DALAL

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

    Article • American Journal of Medical Genetics Part A, December 2017, Wiley

    Dr ASHWIN DALAL

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

    Article • American Journal of Medical Genetics Part A, November 2017, Wiley

    Dr ASHWIN DALAL

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

    Article • American Journal of Medical Genetics Part A, November 2017, Wiley

    Dr ASHWIN DALAL

  8. Familial choreoathetosis due to novel heterozygous mutation in PDE10A

    Article • American Journal of Medical Genetics Part A, November 2017, Wiley

    Dr ASHWIN DALAL

  9. Spectrum of mutations in the SMPD1 gene in Asian Indian patients with acid sphingomyelinase deficient Niemann-Pick disease

    Article • American Journal of Medical Genetics Part A, February 2017, Wiley

    Dr ASHWIN DALAL

  10. Spectrum ofSMPD1mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease

    Article • American Journal of Medical Genetics Part A, June 2016, Wiley

    Dr ASHWIN DALAL

  11. Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II

    Article • Clinical Genetics, May 2016, Wiley

    Dr ASHWIN DALAL

  12. A splice site mutation inHERC1leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum

    Article • American Journal of Medical Genetics Part A, April 2016, Wiley

    Dr ASHWIN DALAL

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

    Article • American Journal of Medical Genetics Part A, April 2016, Wiley

    Dr ASHWIN DALAL

  14. Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy

    Article • American Journal of Medical Genetics Part A, November 2015, Wiley

    Dr ASHWIN DALAL

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

    Article • Gene, June 2014, Elsevier

    Dr ASHWIN DALAL

  16. GAPO syndrome with deafness

    Article • Clinical Dysmorphology, October 2013, Wolters Kluwer Health

    Dr ASHWIN DALAL

  17. Congenital metacarpal pseudoarthrosis, cleft palate, short stature, advanced bone age, and genu valgum

    Article • Clinical Dysmorphology, April 2013, Wolters Kluwer Health

    Dr ASHWIN DALAL

  18. Molecular Diagnostics

    Article • BioMed Research International, January 2013, Hindawi Publishing Corporation

    Dr ASHWIN DALAL

  19. Confirmation of the Zechi‐Ceide syndrome

    Article • American Journal of Medical Genetics Part A, May 2012, Wiley

    Dr Venkatraman Bhat, Dr ASHWIN DALAL

  20. Spectrum of lysosomal storage disorders at a medical genetics center in Northern India

    Article • Indian Pediatrics, March 2012, Springer Science + Business Media

    Dr ASHWIN DALAL

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

    Article • Indian Journal of Human Genetics, January 2012, Medknow

    Dr ASHWIN DALAL

  22. Sickle Cell Anemia—Molecular Diagnosis and Prenatal Counseling: SGPGI Experience

    Article • The Indian Journal of Pediatrics, June 2011, Springer Science + Business Media

    Dr ASHWIN DALAL

  23. Tuberous Sclerosis: Diagnosis and Prenatal Diagnosis by MLPA

    Article • The Indian Journal of Pediatrics, May 2011, Springer Science + Business Media

    Dr ASHWIN DALAL

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

    Article • Clinical Dysmorphology, April 2009, Wolters Kluwer Health

    Dr ASHWIN DALAL

  25. Morphometric analysis of face in dysmorphology

    Article • Computer Methods and Programs in Biomedicine, February 2007, Elsevier

    Dr ASHWIN DALAL

  26. Fertility in men with Down syndrome: a case report

    Article • Fertility and Sterility, December 2006, Elsevier

    Dr ASHWIN DALAL

  27. Handless, footless fetus

    Article • Clinical Dysmorphology, October 2006, Wolters Kluwer Health

    Dr ASHWIN DALAL

  28. Hemihyperplasia syndromes

    Article • The Indian Journal of Pediatrics, July 2006, Springer Science + Business Media

    Dr ASHWIN DALAL

  29. Urorectal septum malformation presenting as nonimmune hydrops fetalis

    Article • Prenatal Diagnosis, June 2006, Wiley

    Dr ASHWIN DALAL

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

    Article • Journal of Clinical Ultrasound, January 2006, Wiley

    Dr ASHWIN DALAL

  31. Hemihyperplasia with Ehlers???Danlos syndrome like skin changes

    Article • Clinical Dysmorphology, October 2005, Wolters Kluwer Health

    Dr ASHWIN DALAL