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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 13, 2015
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiencyWilliam P Bone, Nicole L Washington, Orion J Buske, et al.Blood|August 30, 2023
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participantsLuca Stefanucci, Janine Collins, Matthew C Sims, et al.Genome Medicine|January 10, 2018
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysisAlexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, et al.American Journal of Obstetrics and Gynecology|October 2, 2007
A prospective, randomized, multicenter trial of amnioreduction vs selective fetoscopic laser photocoagulation for the treatment of severe twin-twin transfusion syndromeTimothy M Crombleholme, David Shera, Hanmin Lee, et al.Medrxiv : the Preprint Server for Health Sciences|March 17, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian DisordersLauren Rekerle, Daniel Danis, Filip Rehburg, et al.Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences|October 19, 2011
The atmospheric chemistry of trace gases and particulate matter emitted by different land uses in BorneoA R MacKenzie, B Langford, T A M Pugh, et al.BMJ (Clinical Research Ed.)|September 8, 2016
Prospective risk of stillbirth and neonatal complications in twin pregnancies: systematic review and meta-analysisFiona Cheong-See, Ewoud Schuit, David Arroyo-Manzano, et al.Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
A Phenotypic Paradigm for Cerebral Palsy GeneticsAdam S Arterbery, Michael A Gargano, Anita M Bagley, et al.American Journal of Human Genetics|September 1, 2015
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis LaxaBjörn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, et al.Cell|March 25, 2017
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic ResearchTeri A Manolio, Douglas M Fowler, Lea M Starita, et al.Pageof 132