Arti Pandya
0000-0002-8889-0663
Publication & Citation Trends
Publications
0 total
eP402: Partial trisomy of chromosome 22 mediated by chromoanasynthesis in an 8-month-old male OA
Cited by 0
Semantic Scholar
Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). OA
Cited by 54
Semantic Scholar
Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications OA
Cited by 10
Semantic Scholar
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss OA
Cited by 34
Semantic Scholar
Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A) OA
Cited by 12
Semantic Scholar
Analyses of del(GJB6‐D13S1830) and del(GJB6‐D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families OA
Cited by 11
Semantic Scholar
Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases OA
Cited by 10
Semantic Scholar
Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans OA
Cited by 4
Semantic Scholar
Cancer Risk in Klippel–Trenaunay Syndrome
Cited by 26
Semantic Scholar
Eye Abnormalities in Patients With Chromosomal Disorders
Cited by 0
Semantic Scholar
Research Topics
Hearing, Cochlea, Tinnitus, Genetics
(52)
Connexins and lens biology
(22)
Hearing Loss and Rehabilitation
(19)
Vestibular and auditory disorders
(14)
Neuroscience of respiration and sleep
(12)
Affiliations
University of North Carolina at Chapel Hill
University of Geneva
Google (United States)
National Institutes of Health
Albert Einstein College of Medicine