Correction: Genome-wide meta-analysis identifies novel loci conferring risk of acne vulgaris
European Journal of Human Genetics, Published online: 20 April 2023; doi:10.1038/s41431-023-01366-0Correction: Genome-wide meta-analysis identifies novel loci conferring risk of acne vulgaris (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 20, 2023 Category: Genetics & Stem Cells Authors: Maris Teder-Laving Mart Kals Anu Reigo Riin Ehin Telver Obj ärtel Mariliis Vaht Tiit Nikopensius Andres Metspalu K ülli Kingo Source Type: research
Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses
European Journal of Human Genetics, Published online: 19 April 2023; doi:10.1038/s41431-023-01358-0Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 19, 2023 Category: Genetics & Stem Cells Authors: Sushma Singh Cindy Penney Anne Griffin Geoffrey Woodland Salem Werdyani Tammy A. Benteau Nelly Abdelfatah Jessica Squires Beverly King Jim Houston Matthew J. Dyer Nicole M. Roslin Daniel Vincent Pascale Marquis Darren D. O ’Rielly Kathy Hodgkinson Taylo Source Type: research
ADNP in reverse gear
European Journal of Human Genetics, Published online: 18 April 2023; doi:10.1038/s41431-023-01360-6ADNP in reverse gear (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 18, 2023 Category: Genetics & Stem Cells Authors: Claudio Peter D ’Incal R. Frank Kooy Source Type: research
The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome
European Journal of Human Genetics, Published online: 14 April 2023; doi:10.1038/s41431-023-01359-zThe expanding genetic and clinical landscape associated with Meier-Gorlin syndrome (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 14, 2023 Category: Genetics & Stem Cells Authors: Emily Nielsen-Dandoroff Mischa S. G. Ruegg Louise S. Bicknell Source Type: research
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants
European Journal of Human Genetics, Published online: 14 April 2023; doi:10.1038/s41431-023-01351-7Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 14, 2023 Category: Genetics & Stem Cells Authors: Manuela Priolo Erika Zara Francesca Clementina Radio Andrea Ciolfi Francesca Spadaro Emanuele Bellacchio Cecilia Mancini Francesca Pantaleoni Viviana Cordeddu Luigi Chiriatti Marcello Niceta Emilio Africa Corrado Mamm ì Daniela Melis Simona Coppola Marco Source Type: research
STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications
European Journal of Human Genetics, Published online: 13 April 2023; doi:10.1038/s41431-023-01352-6STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 13, 2023 Category: Genetics & Stem Cells Authors: Noam Hadar Ginat Narkis Shirly Amar Marina Varnavsky Glenda Calniquer Palti Amit Safran Ohad S. Birk Source Type: research
Tools to differentiate between Filamin C and Titin truncating variant carriers: value of MRI
European Journal of Human Genetics, Published online: 10 April 2023; doi:10.1038/s41431-023-01357-1Tools to differentiate between Filamin C and Titin truncating variant carriers: value of MRI (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 10, 2023 Category: Genetics & Stem Cells Authors: Johanna Jacobs Lucas Van Aelst Jeroen Breckpot Anniek Corveleyn Cuno Kuiperi Matthias Dupont Ward Heggermont Katrien De Vadder Rik Willems Johan Van Cleemput Jan G. Bogaert Tomas Robyns Source Type: research
The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases
European Journal of Human Genetics, Published online: 10 April 2023; doi:10.1038/s41431-023-01350-8The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 10, 2023 Category: Genetics & Stem Cells Authors: Abderaouf Hamza Carine El-Sissy Nadhir Yousfi Paula Vieira Martins C édric Rafat Julien Masliah-Planchon V éronique Frémeaux-Bacchi Laurent Mesnard Source Type: research
Biological data studies, scale-up the potential with machine learning
European Journal of Human Genetics, Published online: 10 April 2023; doi:10.1038/s41431-023-01361-5Biological data studies, scale-up the potential with machine learning (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 10, 2023 Category: Genetics & Stem Cells Authors: Raj Rajeshwar Malinda Source Type: research
Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles
European Journal of Human Genetics, Published online: 07 April 2023; doi:10.1038/s41431-023-01336-6Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 7, 2023 Category: Genetics & Stem Cells Authors: Ilse Parijs Nathalie Brison Leen Vancoillie Machteld Baetens Bettina Blaumeiser S ébastien Boulanger Julie D ésir Boyan Dimitrov Nathalie Fieremans Katrien Janssens Sandra Janssens Axel Marichal Bj örn Menten Colombine Meunier Kim Van Berkel Ann Van De Source Type: research
Studying ultra-rare variants in STX1A uncovers a novel neurodevelopmental disorder
European Journal of Human Genetics, Published online: 07 April 2023; doi:10.1038/s41431-023-01348-2Studying ultra-rare variants in STX1A uncovers a novel neurodevelopmental disorder (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 7, 2023 Category: Genetics & Stem Cells Authors: Esmeralda Villavicencio Gonzalez Ryan S. Dhindsa Source Type: research
Uncovering the genetic architecture of paediatric moyamoya angiopathy: implications for disease pathogenesis
European Journal of Human Genetics, Published online: 05 April 2023; doi:10.1038/s41431-023-01353-5Uncovering the genetic architecture of paediatric moyamoya angiopathy: implications for disease pathogenesis (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 5, 2023 Category: Genetics & Stem Cells Authors: Hiroyuki Ishiyama Masafumi Ihara Source Type: research
Deciphering the genetic structure of the Quebec founder population using genealogies
European Journal of Human Genetics, Published online: 04 April 2023; doi:10.1038/s41431-023-01356-2Deciphering the genetic structure of the Quebec founder population using genealogies (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 4, 2023 Category: Genetics & Stem Cells Authors: Laurence Gagnon Claudia Moreau Catherine Laprise H élène Vézina Simon L. Girard Source Type: research
The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort
European Journal of Human Genetics, Published online: 04 April 2023; doi:10.1038/s41431-023-01320-0The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 4, 2023 Category: Genetics & Stem Cells Authors: Paolo Zanoni Katharina Steindl Heinrich Sticht Beatrice Oneda Pascal Joset Ivan Ivanovski Anselm H. C. Horn Elena M. Cabello Julia Laube Markus Zweier Alessandra Baumer Anita Rauch Nadia Khan Source Type: research
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations
European Journal of Human Genetics, Published online: 03 April 2023; doi:10.1038/s41431-023-01344-6Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 3, 2023 Category: Genetics & Stem Cells Authors: Ashraf Yahia Ahlam A. A. Hamed Inaam N. Mohamed Maha A. Elseed Mustafa A. Salih Sarah M. El-sadig Hassab Elrasoul Siddig Ali Elsir Musa Nasreldien Mohamed Ahmed Abdullah Maha Elzubair Farouk Yassen Omer Aisha Motwakil Bakhiet Rayan Abubaker Fatima Abozar Source Type: research
