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American Journal of Human Genetics|May 6, 2014
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apneaFan Xia, Matthew N Bainbridge, Tiong Yang Tan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2023
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetranceRebecca S Tooze, Kerry A Miller, Sigrid M A Swagemakers, et al.
American Journal of Human Genetics|August 21, 2024
Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signalingParanchai Boonsawat, Reza Asadollahi, Dunja Niedrist, et al.
Pediatrics|June 1, 2022
Clinical Effectiveness of Telemedicine-Based Pediatric Genetics CareKatherine M Szigety, Terrence B Crowley, Kimberly B Gaiser, et al.
Nature Genetics|September 10, 2002
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromesShinji Kondo, Brian C Schutte, Rebecca J Richardson, et al.
Human Molecular Genetics|March 21, 2020
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndromeReham Alharatani, Athina Ververi, Ana Beleza-Meireles, et al.
Human Mutation|July 29, 2011
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patientsTingwei Guo, Donna McDonald-McGinn, Anna Blonska, et al.
American Journal of Human Genetics|June 18, 2021
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylationDaniel L Polla, Andrew C Edmondson, Sandrine Duvet, et al.
American Journal of Human Genetics|June 5, 2013
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosisJohn A Martignetti, Lifeng Tian, Dong Li, et al.
Human Molecular Genetics|January 24, 2018
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2Tingwei Guo, Alexander Diacou, Hiroko Nomaru, et al.
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