Associated Papers
Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly.
Shah R et al.
American Journal of Medical Genetics. Part A, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type.
Ulhaq ZS et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2024
36317361 (PubMed )
Supplement: sj-xlsx-1-cpc-10.1177_10556656221136177.xlsx › Supp._Table_2
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.
Frisk S et al.
Molecular Genetics & Genomic Medicine, 2022
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Dawidziuk M et al.
Genes, 2021
34946966 (PubMed )
Supplement: genes-12-02014-s001.zip › Supplementary_Table_S1_Patients_details.xlsx › Patients
Prenatal exome sequencing in fetuses with congenital heart defects.
Li R et al.
Clinical Genetics, 2020
Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.
Matsuo M et al.
Brain & Development, 2017
Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.
Lehalle D et al.
Human Mutation, 2014
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
Gordon CT et al.
Journal of Medical Genetics, 2012
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