Last Updated: 09/26/2026
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Found 30 publications
A novel KDM5C variant corrects a previously erroneous diagnosis.
Journal: European journal of medical genetics
Published: December 03, 2024
Proximal Deletions of 14q32.2 Result in Severe Neurodevelopmental Outcomes, Congenital Anomalies, and Dysmorphic Features.
Journal: American journal of medical genetics. Part A
Published: September 28, 2024
Monosomy 10 Mosaicism as an Incidental Finding in Acute Lymphoblastic Leukemia.
Journal: Pediatric blood & cancer
Published: May 01, 2024
CASK pathogenic variant which expands the clinical spectrum for MICPCH syndrome in an adult patient.
CASK pathogenic variant which expands the clinical spectrum for MICPCH syndrome in an adult patient.
Journal: American journal of medical genetics. Part A
Published: December 15, 2023
Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome.
Journal: Research square
Published: September 18, 2023
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Journal: The Journal of clinical investigation
Published: April 06, 2023
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Journal: American journal of human genetics
Published: November 05, 2021
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Journal: American journal of human genetics
Published: April 06, 2021
Opinion and Special Articles: Cerebellar Ataxia and Liver Failure Complicating IPEX Syndrome.
Journal: Neurology
Published: November 10, 2020
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 09, 2020
Last Updated: 09/26/2026