Concepedia

Julian Martinez-Mayer

JM

3

Publications

76

Citations

3

H-Index

2021

Active since

Affiliations

Universidad de Buenos Aires(Current)

Hospital Posadas

Hospital de Niños de la Santísima Trinidad

University of Michigan

Fundación Ciencias Exactas y Naturales

Julian Martinez-Mayer is an author at Universidad de Buenos Aires specializing in endocrinology, pathology, and omics.

ORCID

Top concepts

Publications per year

2021–2024

3

Publications

3

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

Péter Gergics, Cathy Smith, Hironori Bando et al. · The American Journal of Human Genetics · 2021 · 56 citations · Full text

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Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes

Julian Martinez-Mayer, Sebastián Vishnopolska, Catalina Perticarari et al. · The Journal of Clinical Endocrinology & Metabolism · 2024 · 10 citations · Full text

Knockout mice with pituitary malformations help identify human cases of hypopituitarism

Julian Martinez-Mayer, Michelle L. Brinkmeier, Sean P. O’Connell et al. · Genome Medicine · 2024 · 10 citations · Full text

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