Author details

Full Name

Beryl B Cummings

Affiliation

ORCID

Career Start Year

2016

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36896486	A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes.	Am J Med Genet A	2023
35197626	TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A.	Nature	2022
35922509	Transcriptome variation in human tissues revealed by long-read sequencing.	Nature	2022
34373650	Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.	Nature	2021
33536628	Author Correction: Evaluating drug targets through human loss-of-function genetic variation.	Nature	2021
33536625	Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans.	Nature	2021
33977140	WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine Kinase.	Neurol Genet	2021
32862205	Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy.	Eur J Hum Genet	2021
34779586	BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.	EMBO Mol Med	2021
32461654	The mutational constraint spectrum quantified from variation in 141,456 humans.	Nature	2020
30895940	A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.	JCI Insight	2019
30558828	Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.	Mol Genet Metab	2019
30552105	A quantitative framework for characterizing the evolutionary history of mammalian gene expression.	Genome Res	2019
31024060	Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin.	Eur J Hum Genet	2019
31447096	Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly.	Am J Hum Genet	2019
30735661	The Genetic Landscape of Diamond-Blackfan Anemia.	Am J Hum Genet	2019
29691892	Congenital Titinopathy: Comprehensive characterization and pathogenic insights.	Ann Neurol	2018
30271673	Effects of 3D culturing conditions on the transcriptomic profile of stem-cell-derived neurons.	Nat Biomed Eng	2018
30503522	The Genetic Landscape of Diamond-Blackfan Anemia.	Am J Hum Genet	2018
29266598	Nemaline myopathy and distal arthrogryposis associated with an autosomal recessiveÂ TNNT3Â splice variant.	Hum Mutat	2018
29517003	Corrigendum: Landscape of X chromosome inactivation across human tissues.	Nature	2018
28229513	Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.	Hum Mutat	2017
28424332	Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.	Sci Transl Med	2017
29022598	Landscape of X chromosome inactivation across human tissues.	Nature	2017
27899611	The ExAC browser: displaying reference data information from over 60 000 exomes.	Nucleic Acids Res	2017
27535533	Analysis of protein-coding genetic variation in 60,706 humans.	Nature	2016
27619887	Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.	Nat Commun	2016
27503255	A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.	Nat Commun	2016
27745833	Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.	Am J Hum Genet	2016
26783550	RNAseq analysis for the diagnosis of muscular dystrophy.	Ann Clin Transl Neurol	2015