Author

Martin G. Martin

Observed institutions: National Institutes of Health, University of California, Los Angeles, National Human Genome Research Institute, Mattel Children's Hospital, Broad Center, University of California, Davis, University of California, Berkeley

OpenAlex ID: A5035180750

Ontogenetic Development and Distribution of Antibody Transport and Fc Receptor mRNA Expression in Rat Intestine

1997 · Martin G. Martin, S. Vincent Wu, et al. · Digestive Diseases and Sciences · 97

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

2020 · Laura Bryant, Dong Li, et al. · Science Advances · 96

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans

2024 · Victoria E. Rael, Julian A. Yano, et al. · The Journal of Experimental Medicine · 43

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

2023 · Marie Morimoto, Vikas Bhambhani, et al. · npj Genomic Medicine · 18

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

2023 · Vandana Shashi, Vandana Shashi, et al. · Genetics in Medicine · 14

A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

2022 · Suma P. Shankar, Kristin Grimsrud, et al. · Genetics in Medicine · 14

De novo variants in DENND5B cause a neurodevelopmental disorder

2024 · Marcello Scala, Valeria Tomati, et al. · The American Journal of Human Genetics · 11

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

2023 · Meghan C. Halley, Jennifer L. Young, et al. · The Journal of Pediatrics · 7

Participation in a national diagnostic research study: assessing the patient experience

2023 · Lindsay E. Rosenfeld, Kimberly LeBlanc, et al. · Orphanet Journal of Rare Diseases · 7

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

2023 · Ilana M. Miller, Beverly M. Yashar, et al. · Orphanet Journal of Rare Diseases · 6

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

2024 · Matthew J. Moulton, Kristhen Atala, et al. · Genetics in Medicine · 5

Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association

2026 · Laura A. Keehan, Hitomi Ono-Minagi, et al. · Genetics in Medicine · 4

Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

2021 · Sacha Ferdinandusse, Kirsty McWalter, et al. · Genetics in Medicine · 2

“It didn’t feel like anything unusual because we had already been through so much”: Disability-related research experiences of families with children enrolled in the undiagnosed diseases network

2026 · Kevin T. Mintz, Elisa N. Altamirano, et al. · Genetics in Medicine

Uncovering phenotypic expansion in AXIN2-related disorders through precision animal modeling

2026 · Nathalie M. Aceves-Ewing, Denise G. Lanza, et al. · Genetics in Medicine

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

2024 · Jinfeng Lu, Camilo Toro, et al. · BMC Genomics

Works count: 16

Citation count: 322

H-index: 7

I10-index: 7