Last Updated: 09/26/2026
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Found 24 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
Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 16, 2025
Influenza vaccination during early pregnancy and risk of major birth defects, US Birth Defects Study To Evaluate Pregnancy exposureS, 2014-2019.
Journal: Vaccine
Published: February 27, 2025
Pediatric predictive testing to inform preimplantation genetic testing: A case report and review of the literature.
Journal: Journal of genetic counseling
Published: December 10, 2024
ReNeu: A Pivotal, Phase IIb Trial of Mirdametinib in Adults and Children With Symptomatic Neurofibromatosis Type 1-Associated Plexiform Neurofibroma.
Journal: Journal of clinical oncology : official journal of the American Society of Clinical Oncology
Published: November 08, 2024
Nonrecurrent Triplication of 5q21.3q23.3: A Case Report and Review of the Literature.
Journal: American journal of medical genetics. Part A
Published: June 14, 2024
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
Journal: Science advances
Published: May 01, 2023
Mosaicism in BRPF1-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review.
Mosaicism in BRPF1-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review.
Journal: Case reports in genetics
Published: November 24, 2022
Erratum: Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3.
Journal: HGG advances
Published: July 21, 2022
Prepregnancy exposure to dietary arsenic and congenital heart defects.
Journal: Birth defects research
Published: July 18, 2022
Pre-pregnancy exposure to arsenic in diet and non-cardiac birth defects.
Journal: Public health nutrition
Published: May 27, 2022
Co-occurrence of VHL and SDHA Pathogenic Variants: A Case Report.
Journal: Frontiers in oncology
Published: April 21, 2022
Last Updated: 09/26/2026