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Medrxiv : the Preprint Server for Health Sciences|December 9, 2024
BMI Interacts with the Genome to Regulate Gene Expression Globally, with Emphasis in the Brain and GutRebecca Signer, Carina Seah, Hannah Young, et al.
Cell Genomics|June 18, 2026
BMI-genome interactions regulate global gene expression with emphasis in brain and gutRebecca Signer, Carina Seah, Hannah Young, et al.
The Lancet. Digital Health|July 2, 2022
Exploring the clinical and genetic associations of adult weight trajectories using electronic health records in a racially diverse biobank: a phenome-wide and polygenic risk studyJiayi Xu, Jessica S Johnson, Rebecca Signer, et al.
Annals of Clinical and Translational Neurology|October 15, 2020
Novel NUDT2 variant causes intellectual disability and polyneuropathyFrank Diaz, Shaweta Khosa, Dmitriy Niyazov, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2018
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosisCole A Deisseroth, Johannes Birgmeier, Ethan E Bodle, et al.
Molecular Genetics & Genomic Medicine|July 31, 2020
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases NetworkHeidi Cope, Rebecca Spillmann, Jill A Rosenfeld, et al.
Biorxiv : the Preprint Server for Biology|January 18, 2024
Common genetic variation impacts stress response in the brainCarina Seah, Rebecca Signer, Michael Deans, et al.
Brain Communications|March 10, 2023
Characterization of spastic paraplegia in a family with a novel PSEN1 mutationJohn M Ringman, Naghmeh Dorrani, Sara Gutiérrez Fernández, et al.
American Journal of Medical Genetics. Part A|July 31, 2019
Phenotype delineation of ZNF462 related syndromePaul Kruszka, Tommy Hu, Sungkook Hong, et al.
American Journal of Medical Genetics. Part A|February 1, 2021
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesKevin E Glinton, Anna C E Hurst, Kevin M Bowling, et al.
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