Rare variant association testing in the non-coding genome Ozvan BocherEmmanuelle Génin Review 04 June 2020 Pages: 1345 - 1362
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome Roser UfartesHanna BergerSilke Pauli Original Investigation Open access 18 May 2020 Pages: 1363 - 1379
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders Frederic Tran Mau-ThemSebastien MouttonChristel Thauvin-Robinet Original Investigation 12 May 2020 Pages: 1381 - 1390
ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy Gao-Hui ZhouYue MaZi-Bing Jin Original Investigation 21 May 2020 Pages: 1391 - 1401
Low-pass genome sequencing: a validated method in clinical cytogenetics Matthew Hoi Kin ChauHuilin WangZirui Dong Original Investigation 25 May 2020 Pages: 1403 - 1415
The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications Takema KatoHidehito InagakiHiroki Kurahashi Original Investigation 02 June 2020 Pages: 1417 - 1427
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East Flavia PalomboClaudio GrazianoMarco Seri Original Investigation 02 June 2020 Pages: 1429 - 1441
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis Mythily GanapathiLoukas ArgyriouBernd Wollnik Original Investigation Open access 08 June 2020 Pages: 1443 - 1454
DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation Maëva ElzaiatDelphine FlattersReiner A. Veitia Original Investigation 05 June 2020 Pages: 1455 - 1470
Identification of novel genetic variants associated with short stature in a Baka Pygmies population Matteo ZoccolilloClaudia MoiaMauro Bozzola Original Investigation Open access 24 June 2020 Pages: 1471 - 1483