Publics’ knowledge of, attitude to and motivation towards health-related genomics: a scoping review
European Journal of Human Genetics, Published online: 06 February 2024; doi:10.1038/s41431-024-01547-5Publics’ knowledge of, attitude to and motivation towards health-related genomics: a scoping review (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 6, 2024 Category: Genetics & Stem Cells Authors: Angela Pearce Lucas A. Mitchell Stephanie Best Mary-Anne Young Bronwyn Terrill Source Type: research
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment
European Journal of Human Genetics, Published online: 05 February 2024; doi:10.1038/s41431-023-01526-2Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 5, 2024 Category: Genetics & Stem Cells Authors: Marivi V. Cascajo-Almenara Natalia. Juli á-Palacios Roser Urreizti Ana S ánchez-Cuesta Daniel M. Fern ández-Ayala Elena Garc ía-Díaz Clara Oliva Maria del Mar O ´Callaghan Abraham J. Paredes-Fuentes Pedro J. Moreno-Lozano Jordi Muchart Andres Nascim Source Type: research
Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy
European Journal of Human Genetics, Published online: 05 February 2024; doi:10.1038/s41431-024-01541-xBi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 5, 2024 Category: Genetics & Stem Cells Authors: Mahmoud Koko Maha A. Elseed Inaam N. Mohammed Ahlam A. Hamed Amal S. I. Abd Allah Ashraf Yahia Rayan A. Siddig Janine Altm üller Mohammad Reza Toliat Esra O. Elmahdi Mutaz Amin Elhami A. Ahmed Isra Z. M. Eltazi Fatima A. Elmugadam Wasma A. Abdelgadir Esr Source Type: research
2023 in the European Journal of Human Genetics
European Journal of Human Genetics, Published online: 05 February 2024; doi:10.1038/s41431-024-01540-y2023 in the European Journal of Human Genetics (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 5, 2024 Category: Genetics & Stem Cells Authors: Alisdair McNeill Source Type: research
Using exomes better
European Journal of Human Genetics, Published online: 05 February 2024; doi:10.1038/s41431-024-01539-5Using exomes better (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 5, 2024 Category: Genetics & Stem Cells Authors: Alisdair McNeill Source Type: research
Patients’ perceptions and practices of informing relatives: a qualitative study within a randomised trial on healthcare-assisted risk disclosure
European Journal of Human Genetics, Published online: 02 February 2024; doi:10.1038/s41431-024-01544-8Patients’ perceptions and practices of informing relatives: a qualitative study within a randomised trial on healthcare-assisted risk disclosure (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 2, 2024 Category: Genetics & Stem Cells Authors: Charlotta N ääs Jenny von Salom é Anna Ros én Source Type: research
The value of genomic testing in severe childhood speech disorders
European Journal of Human Genetics, Published online: 02 February 2024; doi:10.1038/s41431-024-01534-wThe value of genomic testing in severe childhood speech disorders (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 2, 2024 Category: Genetics & Stem Cells Authors: Yan Meng Stephanie Best David J. Amor Ruth Braden Angela T. Morgan Ilias Goranitis Source Type: research
Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing
European Journal of Human Genetics, Published online: 02 February 2024; doi:10.1038/s41431-024-01542-wDiagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 2, 2024 Category: Genetics & Stem Cells Authors: Jihoon G. Yoon Seungbok Lee Jaeso Cho Narae Kim Sheehyun Kim Man Jin Kim Soo Yeon Kim Jangsup Moon Jong-Hee Chae Source Type: research
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells
European Journal of Human Genetics, Published online: 29 January 2024; doi:10.1038/s41431-024-01538-6A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 29, 2024 Category: Genetics & Stem Cells Authors: Zain Awamleh Sanaa Choufani Wendy Wu Dmitrijs Rots Alexander J. M. Dingemans Nael Nadif Khadri Susana Boronat Salvador Iba ñez-Mico Laura Cuesta Herraiz Irene Ferrer Antonio Mart ínez Carrascal Luis A. P érez-Jurado Gemma Aznar Lain Juan Dario Ortigoza Source Type: research
Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant—A first report
European Journal of Human Genetics, Published online: 29 January 2024; doi:10.1038/s41431-024-01545-7Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant—A first report (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 29, 2024 Category: Genetics & Stem Cells Authors: James Whitworth Ruth Armstrong Eamonn R. Maher Source Type: research
Should non-invasive prenatal testing (NIPT) be used for fetal sex determination? Perspectives and experiences of healthcare professionals
European Journal of Human Genetics, Published online: 26 January 2024; doi:10.1038/s41431-024-01536-8Should non-invasive prenatal testing (NIPT) be used for fetal sex determination? Perspectives and experiences of healthcare professionals (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 26, 2024 Category: Genetics & Stem Cells Authors: Zo ë Claesen-Bengtson Hilary Bowman-Smart Eline Vermeersch Joris Robert Vermeesch Lidewij Henneman Pascal Borry Source Type: research
Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies
European Journal of Human Genetics, Published online: 26 January 2024; doi:10.1038/s41431-024-01533-xTowards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 26, 2024 Category: Genetics & Stem Cells Authors: Parisa Vaseghi Laleh Habibi Julie A. Neidich Yang Cao Neda Fattahi Ramin Rashidi-Nezhad Tayebeh Salehnezhad Hossein Dalili Fatemeh Rahimi Sharbaf Mohammad Reza Zarkesh Mahtash Malekian Mahdieh Mokhberdezfuli Amirhosein Mehrtash Amin Ardeshirdavani Roxana Source Type: research
Identification of a DLG3 stop mutation in the MRX20 family
European Journal of Human Genetics, Published online: 25 January 2024; doi:10.1038/s41431-024-01537-7Identification of a DLG3 stop mutation in the MRX20 family (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 25, 2024 Category: Genetics & Stem Cells Authors: Jolien Huyghebaert Ligia Mateiu Ellen Elinck Kirsten Esther Van Rossem Bregje Christiaenssen Claudio Peter D ’Incal Michael K. McCormack Alice Lazzarini Geert Vandeweyer R. Frank Kooy Source Type: research
Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature
European Journal of Human Genetics, Published online: 25 January 2024; doi:10.1038/s41431-023-01527-1Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 25, 2024 Category: Genetics & Stem Cells Authors: Amarens Hoogenboom Farah A. Falix Liselot van der Laan Jennifer Kerkhof Mari ëlle Alders Bekim Sadikovic Mieke M. van Haelst Source Type: research
Exploring the similarity between genetic diseases improves their differential diagnosis and the understanding of their etiology
European Journal of Human Genetics, Published online: 25 January 2024; doi:10.1038/s41431-024-01535-9Exploring the similarity between genetic diseases improves their differential diagnosis and the understanding of their etiology (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 25, 2024 Category: Genetics & Stem Cells Authors: Giorgio Valentini Source Type: research
