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The Journal of Clinical Investigation|June 17, 2021
Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsyUdo Fh Engelke, Rianne E van Outersterp, Jona Merx, et al.
Clinical Genetics|August 19, 2014
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorderA Chaudhry, A Noor, B Degagne, et al.
Journal of Inherited Metabolic Disease|November 17, 2020
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiencyCurtis R Coughlin, Laura A Tseng, Jose E Abdenur, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2016
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 familiesMichael D Fountain, Emmelien Aten, Megan T Cho, et al.
Autism in Adulthood : Challenges and Management|June 22, 2023
The Gender-Diversity and Autism Questionnaire: A Community-Developed Clinical, Research, and Self-Advocacy Tool for Autistic Transgender and Gender-Diverse Young AdultsJohn F Strang, Lucy S McClellan, Daphne Raaijmakers, et al.
Journal of Medical Genetics|November 4, 2017
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literatureMargot R F Reijnders, Robert Janowski, Mohsan Alvi, et al.
Journal of Medical Genetics|April 6, 2017
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspectsKonrad Platzer, Hongjie Yuan, Hannah Schütz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 24, 2018
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndromePleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 31, 2019
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndromePleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, et al.
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