Alan H. Beggs, PhD
Harvard University
H-index: 96
North America-United States
Top articles of Alan H. Beggs, PhD
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
P645: Utility of RNAseq in a cohort of undiagnosed congenital myopathy patients: A case series | Genetics in Medicine Open | Casie Genetti Pamela Barraza-Flores Wanqing Shao Sundos Al-Husayni Courtney French | 2024/1/1 |
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy | Nature Genetics | Ana Töpf Dan Cox Irina T Zaharieva Valeria Di Leo Jaakko Sarparanta | 2024/3/1 |
Zebrafish and cellular models of SELENON-Related Myopathy exhibit novel embryonic and metabolic phenotypes | bioRxiv | Pamela Barraza-Flores Behzad S Moaghadaszadeh Won Lee Biju Issac Liang Sung | 2024 |
De novo variants in DENND5B cause a neurodevelopmental disorder | The American Journal of Human Genetics | Marcello Scala Valeria Tomati Matteo Ferla Mariateresa Lena Julie S Cohen | 2024/2/16 |
Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO … | EBioMedicine | Michael W Lawlor Benedikt Schoser Marta Margeta Caroline A Sewry Karra A Jones | 2024/1/1 |
KBTBD13 is an actin-binding protein that modulates muscle kinetics (vol 130, pg 754, 2020) | The Journal of Clinical Investigation | Josine M de Winter Joery P Molenaar Michaela Yuen Robbert van der Pijl Shengyi Shen | 2024/2/1 |
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections | Genetics in medicine | Lauren Jeffries Emily K Mis Kirsty McWalter Sandra Donkervoort Nina N Brodsky | 2024/2/1 |
Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis | Genetics in Medicine | Jenna Pucel Lauren C Briere Chloe Reuter Perman Gochyyev Maria T Acosta | 2024/6/1 |
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 | The American Journal of Human Genetics | Maimuna S Paul Sydney L Michener Hongling Pan Hiuling Chan Jessica M Pfliger | 2024/1/4 |
Titin copy number variations associated with dominant inherited phenotypes | Journal of Medical Genetics | Aurélien Perrin Corinne Métay Marco Savarese Rabah Ben Yaou German Demidov | 2024/4/1 |
Adenylosuccinic acid: an orphan drug with untapped potential | Pharmaceuticals | Emma Rybalka Stephanie Kourakis Charles A Bonsett Behzad Moghadaszadeh Alan H Beggs | 2023/5/31 |
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy | Genetics in medicine | Vandana Shashi Kelly Schoch Rebecca Ganetzky Peter G Kranz Neal Sondheimer | 2023/9/1 |
Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States | Blood | Nathan T Connell Jorge Caicedo Natalia Nieto Sagnik Chatterjee Arunima Hait | 2022/11/15 |
261st ENMC International Workshop: Management of safety issues arising following AAV gene therapy. 17th-19th June 2022, Hoofddorp, The Netherlands | Neuromuscular Disorders | Laurent Servais Rebecca Horton Dimah Saade Carsten Bonnemann Francesco Muntoni | 2023/11/1 |
Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants | Genes | Margaret A Hojlo Merhawi Ghebrelul Casie A Genetti Richard Smith Shira Rockowitz | 2023/3/23 |
P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies | Genetics in Medicine Open | Marina DiStefano Ryan Webb Hannah McCurry Shannon McNulty Gray Swati Tomar | 2023/1/1 |
Systemic gene replacement therapy for treatment of X-linked myotubular myopathy (XLMTM) | 2023/1/31 | ||
Optimizing assays of zebrafish larvae swimming performance for drug discovery | Jeffrey J Widrick Matthias R Lambert Louis M Kunkel Alan H Beggs | 2023/5/13 | |
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder | The American Journal of Human Genetics | Eva Niggl Arjan Bouman Lauren C Briere Remco M Hoogenboezem Ilse Wallaard | 2023/8/3 |
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease | medRxiv | Gabrielle Lemire Alba Sanchis-Juan Kathryn Russell Samantha Baxter Katherine R Chao | 2023/10/5 |
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