Publications by authors named "Gerald B Schaefer"

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Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
Nour Elkhateeb, Renarta Crookes, Michael Spiller, Lisa Pavinato, Flavia Palermo, Gerald Bradley Schaefer

Genet Med· March 2025

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Gerald Bradley Schaefer

Am J Hum Genet· June 2024

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Gerald Bradley Schaefer

Am J Hum Genet· April 2024

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Gerald Bradley Schaefer

Am J Hum Genet· January 2024

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Retinal Degeneration Associated With the G1606A Mitochondrial Mutation.
Hana A Mansour, Joseph A Chacko, Riley N Sanders, Gerald B Schaefer, Sami H Uwaydat

Ophthalmic Surg Lasers Imaging Retina· February 2022

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Multimodal imaging of an RPGR carrier female.
David A Kilgore, Tyler A Kilgore, Suporn Sukpraprut-Braaten, Gerald B Schaefer, Sami H Uwaydat

Ophthalmic Genet· June 2021

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Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome.
Yuri A Zarate, Luigi Boccuto, Sujata Srikanth, Rini Pauly, Eylem Ocal, Gerald B Schaefer

Am J Med Genet A· June 2019

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McArdle Disease Presenting With Muscle Pain in a Teenage Girl: The Role of Whole-Exome Sequencing in Neurogenetic Disorders.
William D Walters, Adolfo D Garnica, Gerald Bradley Schaefer

Semin Pediatr Neurol· July 2018

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A parent-of-origin analysis of paternal genetic variants and increased risk of conotruncal heart defects.
Wendy N Nembhard, Xinyu Tang, Jingyun Li, Stewart L MacLeod, Joseph Levy, Gerald B Schaefer

Am J Med Genet A· March 2018

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A novel approach in pediatric telegenetic services: geneticist, pediatrician and genetic counselor team.
Shobana Kubendran, Siddharthan Sivamurthy, Gerald Bradley Schaefer

Genet Med· November 2017

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Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.
Amy Knight Johnson, Gerald Bradley Schaefer, Jennifer Lee, Ying Hu, Daniela Del Gaudio

Am J Med Genet A· May 2017

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What is the role of clinical genetics in the patient-centered medical home?: A commentary from the Medical Home Workgroup of the Heartland Regional Genetics and Newborn Screening Collaborative.
Gerald Bradley Schaefer, Ingrid A Larson, JoAnn Bolick, Lori Williamson-Dean

Genet Med· May 2016

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Editorial comment: An unusual cause of peroneal neuropathy.
Gerald Bradley Schaefer

Semin Pediatr Neurol· June 2014

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A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.
Elizabeth A Sellars, Katherine A Bosanko, Tiffany Lepard, Adolfo Garnica, Gerald Bradley Schaefer

Semin Pediatr Neurol· June 2014

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