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Journal of Inherited Metabolic Disease|May 27, 2022
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated familiesMythily Ganapathi, Gaelle Friocourt, Naig Gueguen, et al.
HGG Advances|April 4, 2024
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variantsLiselot van der Laan, Peter Lauffer, Kathleen Rooney, et al.
Clinical Genetics|September 10, 2025
LONP1 Variants Are Associated With Clinically Diverse PhenotypesRandee E Young, Lu Qiao, Rebecca Hernan, et al.
American Journal of Medical Genetics. Part A|May 11, 2022
Heterozygous variants in PRPF8 are associated with neurodevelopmental disordersLauren O'Grady, Samantha A Schrier Vergano, Trevor L Hoffman, et al.
The New England Journal of Medicine|October 11, 2018
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed DiseaseKimberly Splinter, David R Adams, Carlos A Bacino, et al.
American Journal of Human Genetics|August 4, 2023
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorderEva Niggl, Arjan Bouman, Lauren C Briere, et al.
NPJ Genomic Medicine|August 23, 2018
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discoveryAlireza Haghighi, Joel B Krier, Agnes Toth-Petroczy, et al.
American Journal of Human Genetics|July 22, 2020
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial DysmorphismMaria J Guillen Sacoto, Iva A Tchasovnikarova, Erin Torti, et al.
Human Mutation|April 13, 2021
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disabilitySonja Neuser, Barbara Brechmann, Gali Heimer, et al.
The Journal of Clinical Investigation|June 11, 2026
Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizuresMichelle Hua, Mohamad-Reza Aghanoori, Melissa J MacPherson, et al.
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