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Genome Medicine|April 3, 2024
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxyZain Dardas, Jawid M Fatih, Angad Jolly, et al.
American Journal of Medical Genetics. Part A|January 4, 2023
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephalyMoez Dawood, Gulsen Akay, Tadahiro Mitani, et al.
Annals of Clinical and Translational Neurology|April 15, 2020
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophyDana Marafi, Tadahiro Mitani, Sedat Isikay, et al.
Genome Medicine|October 28, 2022
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variationHaowei Du, Angad Jolly, Christopher M Grochowski, et al.
Biorxiv : the Preprint Server for Biology|October 24, 2023
Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structuresChristopher M Grochowski, Jesse D Bengtsson, Haowei Du, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 13, 2021
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsyDaniel G Calame, Somayeh Bakhtiari, Rachel Logan, et al.
Cell Genomics|June 22, 2024
Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder lociChristopher M Grochowski, Jesse D Bengtsson, Haowei Du, et al.
HGG Advances|August 29, 2022
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variabilityRuizhi Duan, Hadia Hijazi, Elif Yilmaz Gulec, et al.
Journal of Inherited Metabolic Disease|September 15, 2023
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular traffickingRuizhi Duan, Dana Marafi, Zhi-Jie Xia, et al.
HGG Advances|May 1, 2023
Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndromeAngad Jolly, Haowei Du, Christelle Borel, et al.
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