Last Updated: 09/26/2026
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Found 56 publications
Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder.
Journal: American journal of human genetics
Published: January 29, 2026
Copy Number Gains at 17p11.2 Sparing RAI1: A Shared Phenotype Pattern.
Journal: American journal of medical genetics. Part A
Published: December 11, 2025
Uncovering phenotypic expansion in AXIN2-related disorders through precision animal modeling.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 12, 2025
Current Controversies in Prenatal Diagnosis 2: Conventional Postmortem Examination Remains the Gold Standard for the Anatomical Examination of Fetal Loss.
Journal: Prenatal diagnosis
Published: December 25, 2024
Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling.
Journal: medRxiv : the preprint server for health sciences
Published: December 16, 2024
Paternal UPD (15) With Disease-Causing Mutation and Small Supernumerary Ring Chromosome 15: A Case Report.
Journal: Case reports in genetics
Published: November 14, 2024
De Novo Chromosomes 3q and 5q Chromothripsis Leads to a 5q14.3 Microdeletion Syndrome Presentation: Case Report and Review of the Literature.
Journal: American journal of medical genetics. Part A
Published: October 10, 2024
Germline mutations in a G protein identify signaling cross-talk in T cells.
Journal: Science (New York, N.Y.)
Published: September 19, 2024
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Journal: medRxiv : the preprint server for health sciences
Published: January 31, 2024
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Journal: Genome medicine
Published: December 12, 2023
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.
Journal: American journal of human genetics
Published: October 04, 2023
Last Updated: 09/26/2026