Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
Functional analysis of a novel intronic variant of MCPH1 with autosomal recessive primary microcephaly.
Luo S et al.
Heliyon, 2024
BRIT1 dysfunction confers synergistic inhibition of hepatocellular carcinoma by targeting poly (ADP-ribose) polymerases and PI3K.
Liang Y et al.
American Journal of Cancer Research, 2020
Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).
Naveed M et al.
Genetics Research, 2018
The DNA damage response molecule MCPH1 in brain development and beyond.
Liu X et al.
Acta Biochimica Et Biophysica Sinica, 2016
Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.
Fujikura K
Plos One, 2016
27219052 (PubMed )
Supplement: pone.0155552.s003.pdf
Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin.
Ghani-Kakhki M et al.
Molecular Syndromology, 2012
SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation.
Leung JW et al.
The Journal of Biological Chemistry, 2011
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.
Darvish H et al.
Journal of Medical Genetics, 2010
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