Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.

Authors:
Duerinckx S; Jacquemin V; Drunat S; Vial Y; Passemard S and 17 more

Journal:
Hum Mutat

Publication Year: 2019

DOI:
10.1002/humu.23948

PMCID:
PMC7496698

PMID:
31696992

Journal Information

Full Title: Hum Mutat

Abbreviation: Hum Mutat

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics, Medical

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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Evidence found in paper:

"all variants reported in this manuscript have been submitted to the clinvar database ( https://www ncbi nlm nih gov/clinvar/ ; clinvar accessions scv000998479-scv000998508) 2 5 variants were filtered for quality criteria (pass gatk (depristo et al 2011 ) standard filter read depth >=10) allelic frequency (based on the maximum minor allele frequency found in exac (lek et al 2016 ) 1000 g (thegenomes project consortium 2015 1000) esp6500 ( https://evs gs washington edu/evs/ ; source: dbnsfp2 8) gonl r5 (genome of the netherlands consortium 2014 ) aric5606 ( https://sites cscc unc edu/aric/ ) and our in-house database) and for functional impact (nonsynonymous or splice junction effect using snpeff_effect from snpeff (cingolani et al 2012 )).; all variants reported in this manuscript have been submitted to the clinvar database ( https://www ncbi nlm nih gov/clinvar/ ; clinvar accessions scv000998479-scv000998508)."

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Evidence found in paper:

"CONFLICT OF INTERESTS The authors declare that there are no conflict of interests."

Evidence found in paper:

"We thank Christelle Golzio for guidance in zebrafish phenotyping, and Raphael Helaers for help in variant filtering. We thank all the patients and families for their participation in this study. This work was supported by ERA‐net E‐Rare Euromicro, the Action de Recherche Concertée (ARC) of the Belgian Fédération Wallonie Bruxelles, the Fonds de la Recherche Scientifique FRS‐FNRS Belgium, the Convention Jean Van Damme of the Fonds Erasme and the Fonds de soutien Marguerite‐Marie Delacroix. It was facilitated by the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN‐ITHACA; EU Framework Partnership Agreement ID: 3HP‐HP‐FPA ERN‐01‐2016/739516)."

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Last Updated: Aug 05, 2025