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Author Details

Alan H Beggs
Broad Institute of MIT and Harvard
1986
285
77
PMIDPaper TitleJournal TitlePublished Year
37935568Titin copy number variations associated with dominant inherited phenotypes.J Med Genet2024
38086156Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial.EBioMedicine2024
36671517Genetic Predisposition to Neurological Complications in Patients with COVID-19.Biomolecules2023
37977713Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.Lancet Neurol2023
37873196Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.medRxiv2023
37059315X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant.Bone2023
37183669Optimizing assays of zebrafish larvae swimming performance for drug discovery.Expert Opin Drug Discov2023
37280644Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States.Orphanet J Rare Dis2023
37279760Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.Am J Hum Genet2023
37107537Children with Early-Onset Psychosis Have Increased Burden of Rare <i>GRIN2A</i> Variants.Genes (Basel)2023
37375769Adenylosuccinic Acid: An Orphan Drug with Untapped Potential.Pharmaceuticals (Basel)2023
37162921Integrated multi-omics approach reveals the role of SPEG in skeletal muscle biology including its relationship with myospryn complex.bioRxiv2023
36745529Myosin post-translational modifications and function in the presence of myopathy-linked truncating <i>MYH2</i> mutations.Am J Physiol Cell Physiol2023
36690831Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders.Eur J Hum Genet2023
34309124Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression.J Genet Couns2022
35844027X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition.Acta Neuropathol2022
35571041Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study.Front Genet2022
35694931INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy.J Neuromuscul Dis2022
36910591Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort.Adv Genet (Hoboken)2022
36000218Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder.Am J Psychiatry2022
36324371Phenotypic Spectrum of <i>DNM2</i>-Related Centronuclear Myopathy.Neurol Genet2022
35036860Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19.iScience2022
33098347Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.Am J Med Genet A2021
33909041Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice.Hum Mol Genet2021
33597717RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.Mol Psychiatry2021
33843254Costs and health resource use in patients with X-linked myotubular myopathy: insights from US commercial claims.J Manag Care Spec Pharm2021
33724192Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study.J Med Internet Res2021
33658631Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.Genet Med2021
34645491Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.Genome Med2021
34514437A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.HGG Adv2021
34424265Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial.JAMA Pediatr2021
34506722Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species.Cell2021
34250946Estimation of the Quality-of-Life Impact of X-Linked Myotubular Myopathy.J Neuromuscul Dis2021
33397769A Cross-Sectional Study of Nemaline Myopathy.Neurology2021
33361330Sarcomeres regulate murine cardiomyocyte maturation through MRTF-SRF signaling.Proc Natl Acad Sci U S A2021
31484632Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.Arch Dis Child2020
31970803Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians.Ann Neurol2020
31671076KBTBD13 is an actin-binding protein that modulates muscle kinetics.J Clin Invest2020
31780822Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.Genet Med2020
31794073ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.Ann Neurol2020
33037864Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials.Ann Clin Transl Neurol2020
32655885Children's rare disease cohorts: an integrative research and clinical genomics initiative.NPJ Genom Med2020
32389220Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing.Value Health2020
32434849AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature.Sci Transl Med2020
32160286Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype.Hum Mol Genet2020
30609409Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.Am J Hum Genet2019
31839987FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation.NPJ Genom Med2019
32309614Rpl5-Inducible Mouse Model for Studying Diamond-Blackfan Anemia.Discoveries (Craiova)2019
30209271Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project.Genet Med2019
29960046Expanding the phenotypic spectrum associated with OPHN1 variants.Eur J Med Genet2019
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Collaborators

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Pankaj B Agrawal
Broad Institute of MIT and Harvard
Co-authored papers 48
Casie A Genetti
Boston Children's Hospital
Co-authored papers 38
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Harvard Medical School.
Co-authored papers 32
Nigel G Laing
Harry Perkins Institute of Medical Research, University of Western Australia
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Co-authored papers 23
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Harvard Medical School
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Harvard Medical School
Co-authored papers 17
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UCL Great Ormond Street Institute of Child Health
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Brigham and Women's Hospital, Broad Institute Ariadne Labs and Harvard Medical School
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Baylor College of Medicine.
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Baylor College of Medicine.
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Boston Children's Hospital, Harvard Medical School
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Heidi L Rehm
The Broad Institute of MIT and Harvard
Co-authored papers 8
Joseph Gonzalez-Heydrich
Boston Children's Hospital, USA Harvard Medical School
Co-authored papers 8
Monkol Lek
Co-authored papers 7
Anne O'Donnell-Luria
Broad Institute of MIT and Harvard
Co-authored papers 6
Kurt D Christensen
Harvard Medical School, Harvard Pilgrim Health Care Institute
Co-authored papers 6
Enrico Bertini
IRCCS Bambino Gesu Children's Research Hospital
Co-authored papers 6
Steven M Greenberg
Massachusetts General Hospital
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Peter E Newburger
Co-authored papers 5
Monica H Wojcik
Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Co-authored papers 5
Hart G W Lidov
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Jill O Robinson
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Release 1.2