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Nature Communications|August 15, 2019
Mutations in topoisomerase IIβ result in a B cell immunodeficiencyLori Broderick, Shawn Yost, Dong Li, et al.
Clinical Genetics|December 8, 2025
Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 DeletionsTanner J Nelson, Daniel E McGinn, T Blaine Crowley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 1, 2018
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic dataKristin McDonald Gibson, Addie Nesbitt, Kajia Cao, et al.
Molecular Autism|October 27, 2021
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizuresBeryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, et al.
American Journal of Medical Genetics|October 26, 1999
Polytopic anomalies with agenesis of the lower vertebral columnA Bohring, S O Lewin, J F Reynolds, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2018
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic dataKristin McDonald Gibson, Addie Nesbitt, Kajia Cao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 2, 2018
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic dataKristin McDonald Gibson, Addie Nesbitt, Kajia Cao, et al.
Schizophrenia Research|August 11, 2018
Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndromeMaria Niarchou, Samuel J R A Chawner, Ania Fiksinski, et al.
American Journal of Medical Genetics. Part A|June 18, 2019
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathyLauren B Carter, Agatino Battaglia, Athena Cherry, et al.
Clinical Epigenetics|April 29, 2019
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndromeEric G Bend, Erfan Aref-Eshghi, David B Everman, et al.
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