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Cold Spring Harbor Molecular Case Studies|May 6, 2018
Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case reportJaclyn B Murry, Kalotina Machini, Ozge Ceyhan-Birsoy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 14, 2018
Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq ProjectCasie A Genetti, Talia S Schwartz, Jill O Robinson, et al.
Cellular and Molecular Gastroenterology and Hepatology|May 2, 2024
WNT2B Deficiency Causes Enhanced Susceptibility to Colitis Due to Increased Inflammatory Cytokine ProductionAmy E O'Connell, Sathuwarman Raveenthiraraj, Luiz Fernando Silva Oliveira, et al.
Genes|June 26, 2026
Multimodal Sequencing and Reanalysis Approaches to End the Diagnostic Odyssey of Individuals with Suspected Rare Monogenic DiseasesCatherine A Brownstein, Jill A Madden, Wanqing Shao, et al.
HGG Advances|September 13, 2021
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disordersJignesh R Parikh, Casie A Genetti, Asli Aykanat, et al.
JPGN Reports|July 24, 2026
The genetic landscape of congenital diarrheas and very early onset inflammatory bowel disease in the Middle EastLily Gillette, Muna Al Safar, Ganeshwaran H Mochida, et al.
The European Respiratory Journal|June 2, 2019
Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertensionCsaba Galambos, Mary P Mullen, Joseph T Shieh, et al.
Journal of Psychopharmacology (Oxford, England)|November 10, 2006
Pharmacodynamic and pharmacokinetic effects of TPA023, a GABA(A) alpha(2,3) subtype-selective agonist, compared to lorazepam and placebo in healthy volunteersS L de Haas, S J de Visser, J P van der Post, et al.
European Journal of Human Genetics : EJHG|May 15, 2025
Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndromeShiyu Luo, Valérie Gailus-Durner, Bobbi McGivern, et al.
Immunity|October 3, 2025
Notch3 destabilizes regulatory T cells to drive autoimmune neuroinflammation in multiple sclerosisMehdi Benamar, Paola Contini, Klaus Schmitz-Abe, et al.
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