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The American Journal of Human Genetics | ResearchHub - ResearchHub

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The American Journal of Human Genetics

Elsevier BV · ISSN 0002-9297

6

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1

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Researchers publishing here

17 linked researchers

Siying Lin Gavin Arno Yang Sui Wenhan Lu Zhandong Liu Carl Ernst Evan E. Eichler Tianyun Wang Huda Yahya Zoghbi Rebecca Meyer‐Schuman Fisher R. Cherry Athanasios Papastathopoulos-Katsaros Kelsey M. Hennick Druha Karunakaran Hanna Berk-Rauch Aravinda Chakravarti Tomasz Nowakowski

Research in this journal

A massively parallel reporter assay of MECP2 cis-regulatory elements reveals genetic candidates for male-biased autism2026 · Rebecca Meyer‐Schuman, Fisher R. Cherry, Yang Sui · 1 citations

RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium2026 · Joanna Domènech-Vivó, Hélène Tubeuf, Romy L.S. Mesman · 0 citations

Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I2026 · Siying Lin, Seok-Ho Yu, Andrew C. Browning · 0 citations

MMACHC burden variants are associated with higher circulating vitamin B12 in the All of Us cohort2026 · Ralph J. DeBerardinis · 0 citations

Integrating clinical diagnostics with interventional genetics for neurodevelopmental disorders

2026 · Julia Macintosh, Khadijé Jizi, Charles-Olivier Martin · 0 citations

Effect heterogeneity reveals complex pleiotropic effects of rare coding variants2026 · Wenhan Lu, Chiara Auwerx, Jack Fu · 0 citations