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Advanced Genetics (Hoboken, N.J.)|March 13, 2023
Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome CohortElicia Estrella, Shira Rockowitz, Marielle Thorne, et al.BMC Genetics|October 20, 2009
Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genesRichard R Bennett, Hal E Schneider, Elicia Estrella, et al.Muscle & Nerve|June 1, 2010
Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophyPeter B Kang, Hart G W Lidov, Alexander J White, et al.Medrxiv : the Preprint Server for Health Sciences|March 4, 2025
Interstitial Cystitis: a phenotype and rare variant exome sequencing study: Interstitial Cystitis: a phenotype and exome sequencing studyJoshua E Motelow, Ayan Malakar, Sarath Babu Krishna Murthy, et al.International Journal of Neonatal Screening|June 2, 2021
Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular AtrophyJaime E Hale, Basil T Darras, Kathryn J Swoboda, et al.Movement Disorders : Official Journal of the Movement Disorder Society|April 15, 2024
Recommendations for the Management of Initial and Refractory Pediatric Status DystonicusLindsey M Vogt, Kathryn Yang, Gabriel Tse, et al.Journal of Human Genetics|October 7, 2016
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United StatesHemakumar M Reddy, Kyung-Ah Cho, Monkol Lek, et al.Ebiomedicine|February 19, 2026
Interstitial cystitis: a phenotype and rare variant exome sequencing studyJoshua E Motelow, Ayan Malakar, Sarath Babu Krishna Murthy, et al.Physiological Genomics|October 23, 2018
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and SudanMadhurima Saha, Hemakumar M Reddy, Mustafa A Salih, et al.American Journal of Human Genetics|March 31, 2015
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndromeJanson White, Juliana F Mazzeu, Alexander Hoischen, et al.Pageof 3