Last Updated: 09/26/2026
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Found 28 publications
De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling.
Journal: American journal of medical genetics. Part A
Published: February 12, 2026
Transient Neonatal Zinc Deficiency due to Maternal Variants in SLC30A2 : An Emerging and Atypical Candidate Gene for Maternal Carrier Screening.
Journal: American journal of medical genetics. Part A
Published: December 02, 2025
Genetic Variants in Recurrent Euploid Pregnancy Loss.
Journal: medRxiv : the preprint server for health sciences
Published: November 19, 2025
The Human Intolerome: A curated database to prioritize genomic variants in stillbirth, pregnancy loss, and neonatal death.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 30, 2025
Urine organic acid analysis as a tool in evaluation for Zellweger Spectrum disorder: A retrospective study.
Journal: Molecular genetics and metabolism
Published: June 25, 2025
The Clinical and Biochemical Impact of the Multivitamin Shortage on Neonatal Patients.
Journal: Journal of investigative medicine high impact case reports
Published: May 21, 2025
Healthy euploid dizygotic twin birth after transfer of nonmosaic aneuploid embryos.
Journal: Fertility and sterility
Published: April 14, 2025
A qualitative interview study of medical genetics and genomics residents' perspectives on race, ethnicity, and racism in clinical settings and their related gaps in knowledge: "It's just taboo. Nobody talks about it."
Journal: Journal of genetic counseling
Published: December 31, 2024
Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia.
Journal: Genetics in medicine open
Published: June 20, 2024
Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions.
Journal: Genes
Published: May 09, 2024
Last Updated: 09/26/2026