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Journal of Genetic Counseling|March 13, 2026
Clinical outcomes after nondiagnostic prenatal exome sequencing: Need for balancing reassurance and residual risks in genetic counselingSophie Albert, Anne Swenerton, Kirsten M Niles, et al.
American Journal of Medical Genetics. Part A|August 13, 2022
Further clinical delineation of microcephaly-capillary malformation syndromeJulianne K Postma, Jessica L Zambonin, Ebtissal Khouj, et al.
American Journal of Medical Genetics. Part A|March 14, 2026
Combined Long-Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2Kiana Rashidi, Bhavi P Modi, Phillip A Richmond, et al.
Brain : a Journal of Neurology|June 28, 2011
Increased mitochondrial content in remyelinated axons: implications for multiple sclerosisJessica L Zambonin, Chao Zhao, Nobuhiko Ohno, et al.
European Journal of Human Genetics : EJHG|May 17, 2024
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patientsLaura M Watts, Marta Bertoli, Tania Attie-Bitach, et al.
Orphanet Journal of Rare Diseases|June 30, 2017
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxiaJessica L Zambonin, Allison Bellomo, Hilla Ben-Pazi, et al.
Frontiers in Medicine|January 30, 2023
The practice of genomic medicine: A delineation of the process and its governing principlesJulia Handra, Adrienne Elbert, Nour Gazzaz, et al.
American Journal of Human Genetics|October 29, 2021
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentationsIrit Hochberg, Leigh A M Demain, Julie Richer, et al.
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