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American Journal of Medical Genetics. Part A|February 9, 2012
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)Miles D Thompson, Tony Roscioli, Carlo Marcelis, et al.Genome Medicine|December 15, 2016
Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphismsServi J C Stevens, Anthonie J van Essen, Conny M A van Ravenswaaij, et al.European Journal of Human Genetics : EJHG|March 17, 2011
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutationMarjolijn C J Jongmans, Ineke van der Burgt, Peter M Hoogerbrugge, et al.European Journal of Human Genetics : EJHG|January 17, 2013
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findingsEllen A Croonen, Willy M Nillesen, Kyra E Stuurman, et al.Nature Genetics|March 13, 2002
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardationIlaria Meloni, Maddalena Muscettola, Martine Raynaud, et al.Human Genetics|August 19, 2021
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variantJeroen J Smits, Suzanne E de Bruijn, Cornelis P Lanting, et al.Journal of Medical Genetics|March 1, 2015
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsyMaxime G Blanchard, Marjolein H Willemsen, Jaclyn B Walker, et al.NPJ Genomic Medicine|November 9, 2022
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPALonneke Haer-Wigman, Amber den Ouden, Maria M van Genderen, et al.American Journal of Human Genetics|January 14, 2025
HiFi long-read genomes for difficult-to-detect, clinically relevant variantsWolfram Höps, Marjan M Weiss, Ronny Derks, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2017
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurologyLisenka E L M Vissers, Kirsten J M van Nimwegen, Jolanda H Schieving, et al.Pageof 12