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American Journal of Medical Genetics. Part A|April 8, 2017
Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newbornKristen Wigby, Stephen R F Twigg, Ryan Broderick, et al.
Nature Chemical Biology|December 21, 2021
Characterization of a patient-derived variant of GPX4 for precision therapyHengrui Liu, Farhad Forouhar, Tobias Seibt, et al.
Pediatric Neurology|October 18, 2024
The Face and Features of RNU4-2: A New, Common, Recognizable, Yet Hidden Neurodevelopmental DisorderKristen Barbour, Matthew N Bainbridge, Kristen Wigby, et al.
Scientific Reports|October 9, 2022
Approaches to long-read sequencing in a clinical setting to improve diagnostic rateErica Sanford Kobayashi, Serge Batalov, Aaron M Wenger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 10, 2025
Long-term follow-up of children who received rapid genomic sequencingErica Sanford Kobayashi, Laura E Tobin, Madison Arenchild, et al.
BMJ Open|November 14, 2025
Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trialRebecca Reimers, Miranda Bailey, Chester Brown, et al.
European Journal of Human Genetics : EJHG|May 18, 2017
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delayKarin Weiss, Kristen Wigby, Madeleine Fannemel, et al.
American Journal of Human Genetics|November 6, 2020
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived HarmDavid P Dimmock, Michelle M Clark, Mary Gaughran, et al.
JAMA Pediatrics|February 15, 2021
Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) StudyJill L Maron, Stephen F Kingsmore, Kristen Wigby, et al.
JAMA|July 11, 2023
Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic DisorderJill L Maron, Stephen Kingsmore, Bruce D Gelb, et al.
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