Last Updated: 09/26/2026
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Found 39 publications
Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.
Journal: American journal of medical genetics. Part A
Published: February 26, 2026
Scaling genomic reanalysis to unlock diagnoses and transform rare disease care.
Journal: HGG advances
Published: November 02, 2025
Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits.
Journal: Genetics in medicine open
Published: September 30, 2024
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.
Journal: American journal of human genetics
Published: July 28, 2023
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
Journal: European journal of human genetics : EJHG
Published: February 08, 2023
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 07, 2022
Health Supervision for Children and Adolescents With Down Syndrome.
Journal: Pediatrics
Published: May 01, 2022
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 02, 2021
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 25, 2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Journal: American journal of medical genetics. Part A
Published: September 28, 2020
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
Journal: American journal of human genetics
Published: April 24, 2020
Last Updated: 09/26/2026