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Medrxiv : the Preprint Server for Health Sciences|March 31, 2025
Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment StatusKendall A Flaharty, Vibha Chandrasekar, Irene J Castillo, et al.American Journal of Human Genetics|December 21, 2010
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosisEva Klopocki, Silke Lohan, Francesco Brancati, et al.European Journal of Medical Genetics|July 4, 2012
GWAS reveals new recessive loci associated with non-syndromic facial cleftingMauricio Camargo, Dora Rivera, Lina Moreno, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2017
Utilization of genomic sequencing for population screening of immunodeficiencies in the newbornAshleigh R Pavey, Dale L Bodian, Thierry Vilboux, et al.Nature Communications|January 20, 2016
New observations on maternal age effect on germline de novo mutationsWendy S W Wong, Benjamin D Solomon, Dale L Bodian, et al.Journal of Developmental Biology|October 26, 2021
Quantitative Craniofacial Analysis and Generation of Human Induced Pluripotent Stem Cells for Muenke Syndrome: A Case ReportFahad K Kidwai, Byron W H Mui, Konstantinia Almpani, et al.Nature Genetics|March 7, 2018
Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidenceJakob M Goldmann, Vladimir B Seplyarskiy, Wendy S W Wong, et al.Journal of Medical Genetics|December 4, 2009
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individualsBenjamin D Solomon, Felicitas Lacbawan, Sandra Mercier, et al.American Journal of Obstetrics and Gynecology|December 17, 2008
The clinical content of preconception care: women with chronic medical conditionsAnne L Dunlop, Brian W Jack, Joseph N Bottalico, et al.American Journal of Medical Genetics. Part A|December 9, 2022
Perspectives on the future of dysmorphologyBenjamin D Solomon, Margaret P Adam, Chin-To Fong, et al.Pageof 29