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Acta Neuropathologica|November 15, 2000
Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndromeK Wong, R C Armstrong, K A Gyure, et al.
The Journal of Gene Medicine|July 14, 2000
Knock-out mouse for Canavan disease: a model for gene transfer to the central nervous systemR Matalon, P L Rady, K A Platt, et al.
JAMA|February 22, 2000
Outcome at age 4 years in offspring of women with maternal phenylketonuria: the Maternal PKU Collaborative StudyS E Waisbren, W Hanley, H L Levy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2018
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosisCole A Deisseroth, Johannes Birgmeier, Ethan E Bodle, et al.
Prenatal Diagnosis|August 26, 2023
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletionsCourtney P Verscaj, Frances Velez-Bartolomei, Ethan Bodle, et al.
Medrxiv : the Preprint Server for Health Sciences|January 13, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathiesMaggie T Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
American Journal of Human Genetics|September 20, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathiesTaylor M Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
HGG Advances|March 11, 2026
Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem ManifestationsRodrigo Mendez, Taylor M Arriaga, Jialan Ma, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 18, 2022
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiencyJet Coenen-van der Spek, Raissa Relator, Jennifer Kerkhof, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohortDena R Matalon, Angela L Duker, Taylor M Arriaga, et al.
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