Expanding the phenotype of copy number variations involving NR0B1 (DAX1)
European Journal of Human Genetics, Published online: 10 January 2024; doi:10.1038/s41431-023-01522-6Expanding the phenotype of copy number variations involving NR0B1 (DAX1) (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 10, 2024 Category: Genetics & Stem Cells Authors: Nathalie Veyt Griet Van Buggenhout Koen Devriendt Kris Van Den Bogaert Nathalie Brison Source Type: research
LanDis: the disease landscape explorer
European Journal of Human Genetics, Published online: 10 January 2024; doi:10.1038/s41431-023-01511-9LanDis: the disease landscape explorer (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 10, 2024 Category: Genetics & Stem Cells Authors: Horacio Caniza Juan J. C áceres Mateo Torres Alberto Paccanaro Source Type: research
Validity of European-centric cardiometabolic polygenic scores in multi-ancestry populations
European Journal of Human Genetics, Published online: 05 January 2024; doi:10.1038/s41431-023-01517-3Validity of European-centric cardiometabolic polygenic scores in multi-ancestry populations (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 5, 2024 Category: Genetics & Stem Cells Authors: Constantin-Cristian Topriceanu Nish Chaturvedi Rohini Mathur Victoria Garfield Source Type: research
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference: e-Posters
European Journal of Human Genetics, Published online: 04 January 2024; doi:10.1038/s41431-023-01481-yAbstracts from the 56th European Society of Human Genetics (ESHG) Conference: e-Posters (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 4, 2024 Category: Genetics & Stem Cells Source Type: research
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile
European Journal of Human Genetics, Published online: 04 January 2024; doi:10.1038/s41431-023-01523-5Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 4, 2024 Category: Genetics & Stem Cells Authors: M. Cecilia Poli Boris Rebolledo-Jaramillo Catalina Lagos Joan Orellana Gabriela Moreno Luz M. Mart ín Gonzalo Encina Daniela B öhme V íctor Faundes M. Jes ús Zavala Trinidad Hasb ún Sara Fischer Florencia Brito Diego Araya Manuel Lira Javiera de la C Source Type: research
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia
European Journal of Human Genetics, Published online: 04 January 2024; doi:10.1038/s41431-023-01516-4DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 4, 2024 Category: Genetics & Stem Cells Authors: Monica Traverso Serena Baratto Michele Iacomino Marco Di Duca Chiara Panicucci Sara Casalini Marina Grandis Antonio Falace Annalaura Torella Esther Picillo Maria Elena Onore Luisa Politano Vincenzo Nigro A. Micheil Innes Rita Barresi Claudio Bruno Federic Source Type: research
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference: Oral Presentations
European Journal of Human Genetics, Published online: 04 January 2024; doi:10.1038/s41431-023-01480-zAbstracts from the 56th European Society of Human Genetics (ESHG) Conference: Oral Presentations (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 4, 2024 Category: Genetics & Stem Cells Source Type: research
Managing genetic information sharing at family and population level
European Journal of Human Genetics, Published online: 04 January 2024; doi:10.1038/s41431-023-01514-6Managing genetic information sharing at family and population level (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 4, 2024 Category: Genetics & Stem Cells Authors: Alisdair McNeill Source Type: research
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference
European Journal of Human Genetics, Published online: 04 January 2024; doi:10.1038/s41431-023-01479-6Abstracts from the 56th European Society of Human Genetics (ESHG) Conference (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 4, 2024 Category: Genetics & Stem Cells Source Type: research
Informed consent for whole genome sequencing in mainstream clinics: logistical constraints and possible solutions
European Journal of Human Genetics, Published online: 04 January 2024; doi:10.1038/s41431-023-01520-8Informed consent for whole genome sequencing in mainstream clinics: logistical constraints and possible solutions (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 4, 2024 Category: Genetics & Stem Cells Authors: Amina Chaouch Fiona Ulph James Alder Hisham Hamdalla John Ealing Tara Clancy Rhona Macleod Angus John Clarke Source Type: research
Publisher Correction: A 39 kb structural variant causing Lynch syndrome detected by optical genome mapping and nanopore sequencing
European Journal of Human Genetics, Published online: 04 January 2024; doi:10.1038/s41431-023-01519-1Publisher Correction: A 39 kb structural variant causing Lynch syndrome detected by optical genome mapping and nanopore sequencing (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 4, 2024 Category: Genetics & Stem Cells Authors: P ål Marius Bjørnstad Ragnhild Aal økken June Åsheim Arvind Y. M. Sundaram Caroline N. Felde G. Henriette Østby Marianne Dalland Wenche Sjursen Christian Carrizosa Magnus D. Vigeland Hanne S. Sorte Ying Sheng Sarah L. Ariansen Eli Marie Grindedal Gre Source Type: research
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India
European Journal of Human Genetics, Published online: 20 December 2023; doi:10.1038/s41431-023-01513-7De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - December 20, 2023 Category: Genetics & Stem Cells Authors: Shruti Pande Purvi Majethia Karthik Nair Lakshmi Priya Rao Selinda Mascarenhas Namanpreet Kaur Michelle C. do Rosario Kausthubham Neethukrishna Ankur Chaurasia Bhagesh Hunakunti Nalesh Jadhav Sruthy Xavier Jeevan Kumar Vivekananda Bhat Gandham SriLakshmi Source Type: research
Perception of genomic newborn screening among peripartum mothers
European Journal of Human Genetics, Published online: 19 December 2023; doi:10.1038/s41431-023-01497-4Perception of genomic newborn screening among peripartum mothers (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - December 19, 2023 Category: Genetics & Stem Cells Authors: Bernarda Prosenc Mojca Cizek Sajko Gorazd Kavsek Marusa Herzog Borut Peterlin Source Type: research
Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa
European Journal of Human Genetics, Published online: 15 December 2023; doi:10.1038/s41431-023-01509-3Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - December 15, 2023 Category: Genetics & Stem Cells Authors: Kimberly Christine Coetzer Ekkehard Z öllner Shahida Moosa Source Type: research
Are disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review
European Journal of Human Genetics, Published online: 14 December 2023; doi:10.1038/s41431-023-01510-wAre disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - December 14, 2023 Category: Genetics & Stem Cells Authors: Saar van Pottelberghe Nina Kupper Esther Scheirlynck Ahmad S. Amin Arthur A. M. Wilde Nynke Hofman Edward Callus Ruth Biller Julie Nekkebroeck Sonia Van Dooren Frederik J. Hes Saskia N. van der Crabben Source Type: research
