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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2014
A high-resolution copy-number variation resource for clinical and population geneticsMohammed Uddin, Bhooma Thiruvahindrapuram, Susan Walker, et al.
Medrxiv : the Preprint Server for Health Sciences|September 25, 2023
Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare diseaseAlexandra C Martin-Geary, Alexander J M Blakes, Ruebena Dawes, et al.
Human Genetics|November 30, 2014
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genesMarc Woodbury-Smith, Andrew D Paterson, Bhooma Thiruvahindrapduram, et al.
American Journal of Human Genetics|May 6, 2017
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping ConditionsDarci T Butcher, Cheryl Cytrynbaum, Andrei L Turinsky, et al.
Journal of Medical Genetics|March 31, 2018
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disordersRebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, et al.
JAMA Network Open|September 22, 2020
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical ComplexityGregory Costain, Susan Walker, Maria Marano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2017
De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsyMehdi Zarrei, Darcy L Fehlings, Karizma Mawjee, et al.
Genome Medicine|April 14, 2025
Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare diseaseAlexandra C Martin-Geary, Alexander J M Blakes, Ruebena Dawes, et al.
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