Publications by authors named "Heather Fisher"

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Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.
Amber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, Jan Prchal, Darina Prchalova, Heather Fisher

Genet Med· November 2025

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The future of electronic health record-based research: Leveraging informatics in genetic counseling research.
Samantha E Greenberg, Brian Reys, Heather Fisher, Mujeeb Basit

J Genet Couns· June 2025

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An interactive web application for exploring human plasma and fibroblast metabolomics data from patients with inborn errors of metabolism.
Ling Cai, Hieu S Vu, Wen Gu, Hongli Chen, Jordan Franklin, Heather Fisher

bioRxiv· December 2023

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Access to clinically indicated genetic tests for pediatric patients with Medicaid: Evidence from outpatient genetics clinics in Texas.
Haley Streff, Crescenda L Uhles, Heather Fisher, Rachel Franciskovich, Rebecca O Littlejohn

Genet Med· March 2023

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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Susan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E Christopher Partridge, Fatima E Abidi, Heather Fisher

Am J Hum Genet· February 2023

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Overcoming presynaptic effects of VAMP2 mutations with 4-aminopyridine treatment.
Roxanne L Simmons, Haiyan Li, Baris Alten, Magda S Santos, Ruiji Jiang, Heather Fisher

Hum Mutat· November 2020

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An additional case of Néstor-Guillermo progeria syndrome diagnosed in early childhood.
Heather G Fisher, Nivedita Patni, Angela E Scheuerle

Am J Med Genet A· October 2020

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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Claire Redin, Harrison Brand, Ryan L Collins, Tammy Kammin, Elyse Mitchell, Heather Fisher

Nat Genet· January 2017

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Warfarin-induced tissue necrosis: a case study.
Alison Crumbie, Heather Fisher, Grace Leedham

Nurs Stand· January 2013

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Warfarin-induced tissue necrosis: a case study.
Heather Fisher, Grace Leedham

Nurs Stand· October 2012

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