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Imaging Neuroscience (Cambridge, Mass.)|June 18, 2026
QuNex recipes: Executable, human-readable workflows for reproducible neuroimaging researchJure Demšar, Aleksij Kraljič, Andraž Matkovič, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial featuresAkemi J Tanaka, Megan T Cho, Kyle Retterer, et al.
Clinical Genetics|September 11, 2002
Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney diseaseH-S Eo, J G Lee, C Ahn, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo POGZ mutations are associated with neurodevelopmental disorders and microcephalyYizhou Ye, Megan T Cho, Kyle Retterer, et al.
Medical Mycology|February 24, 2001
Candida albicans: adherence, signaling and virulenceR Calderone, S Suzuki, R Cannon, et al.
American Journal of Human Genetics|June 4, 2016
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart DefectsLia Boyle, Mirjam M C Wamelink, Gajja S Salomons, et al.
Elife|July 27, 2021
Mapping brain-behavior space relationships along the psychosis spectrumJie Lisa Ji, Markus Helmer, Clara Fonteneau, et al.
Human Genetics|April 7, 2016
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic featuresVolkan Okur, Megan T Cho, Lindsay Henderson, et al.
American Journal of Human Genetics|August 23, 2016
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in FemalesJennifer M Bain, Megan T Cho, Aida Telegrafi, et al.
American Journal of Medical Genetics. Part A|May 3, 2016
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorderFrancisca Millan, Megan T Cho, Kyle Retterer, et al.
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