Gábor Marth
0000-0003-0222-1694
Publication & Citation Trends
Publications
0 total
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.
Cited by 2
Semantic Scholar
De novo variants in DENND5B cause a neurodevelopmental disorder OA
Cited by 7
Semantic Scholar
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Cited by 6
Semantic Scholar
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. OA
Cited by 13
Semantic Scholar
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy OA
Cited by 2
Semantic Scholar
Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability
Cited by 4
Semantic Scholar
P243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care OA
Cited by 2
Semantic Scholar
Differences in molecular sampling and data processing explain variation among single-cell and single-nucleus RNA-seq experiments OA
Cited by 8
Semantic Scholar
Research Topics
Genomics and Rare Diseases
(57)
Cancer Genomics and Diagnostics
(55)
Genomics and Phylogenetic Studies
(52)
Genomic variations and chromosomal abnormalities
(25)
Molecular Biology Techniques and Applications
(20)
Affiliations
Boston College
Broad Institute
Brigham and Women's Hospital
Centre National de la Recherche Scientifique
Seattle Children's Hospital