The Korean Genetic Diagnosis Program for Rare Disease Phase II: outcomes of a 6-year national project
European Journal of Human Genetics, Published online: 06 July 2023; doi:10.1038/s41431-023-01415-8The Korean Genetic Diagnosis Program for Rare Disease Phase II: outcomes of a 6-year national project (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - July 6, 2023 Category: Genetics & Stem Cells Authors: Man Jin Kim Boram Kim Heerah Lee Jee-Soo Lee Seung Won Chae Ho Seob Shin Sung Im Cho Soo Yeon Kim Jangsup Moon Byung Chan Lim Jung Min Ko Jong-Hee Chae Sung Sup Park Moon-Woo Seong Source Type: research
Can ChatGPT understand genetics?
European Journal of Human Genetics, Published online: 05 July 2023; doi:10.1038/s41431-023-01419-4Can ChatGPT understand genetics? (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - July 5, 2023 Category: Genetics & Stem Cells Authors: Frank Emmert-Streib Source Type: research
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome
European Journal of Human Genetics, Published online: 05 July 2023; doi:10.1038/s41431-023-01422-9Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - July 5, 2023 Category: Genetics & Stem Cells Authors: Sunwoo Lee Eguzkine Ochoa Magdalena Badura-Stronka Deirdre Donnelly Damien Lederer Sally A. Lynch Alice Gardham Jenny Morton Helen Stewart France Docquier Fay Rodger Ezequiel Martin Ana Toribio Eamonn R. Maher Meena Balasubramanian Source Type: research
MBD4-associated neoplasia syndrome: screening of cases with suggestive phenotypes
European Journal of Human Genetics, Published online: 04 July 2023; doi:10.1038/s41431-023-01418-5MBD4-associated neoplasia syndrome: screening of cases with suggestive phenotypes (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - July 4, 2023 Category: Genetics & Stem Cells Authors: Mariona Terradas Noemi Gonzalez-Abuin Sandra Garc ía-Mulero Julen Viana-Errasti Gemma Aiza Josep M. Piulats Joan Brunet Gabriel Capell á Laura Valle Source Type: research
Comment on Australian public perspectives on genomic data governance by Lynch et al. in the EJHG
European Journal of Human Genetics, Published online: 04 July 2023; doi:10.1038/s41431-023-01416-7Comment on Australian public perspectives on genomic data governance by Lynch et al. in the EJHG (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - July 4, 2023 Category: Genetics & Stem Cells Authors: Elisa J. F. Houwink Eric W. Klee Source Type: research
Uptake of funded genomic testing for syndromic and non-syndromic intellectual disability in Australia
European Journal of Human Genetics, Published online: 03 July 2023; doi:10.1038/s41431-023-01417-6Uptake of funded genomic testing for syndromic and non-syndromic intellectual disability in Australia (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - July 3, 2023 Category: Genetics & Stem Cells Authors: Dylan A. Mordaunt Kim Dalziel Ilias Goranitis Zornitza Stark Source Type: research
Unusual genomic variants require unusual analyses
European Journal of Human Genetics, Published online: 30 June 2023; doi:10.1038/s41431-023-01405-wUnusual genomic variants require unusual analyses (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 30, 2023 Category: Genetics & Stem Cells Authors: Alisdair McNeill Source Type: research
Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis
European Journal of Human Genetics, Published online: 28 June 2023; doi:10.1038/s41431-023-01413-wHypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 28, 2023 Category: Genetics & Stem Cells Authors: Tifenn Desroziers Gr égoire Prévot Aurore Coulomb Val érie Nau Florence Dastot-Le Moal Philippe Duquesnoy M élanie Héry Aur élie Le Borgne Serge Amselem Marie Legendre Nadia Nathan Source Type: research
Episignature analysis of moderate effects and mosaics
European Journal of Human Genetics, Published online: 26 June 2023; doi:10.1038/s41431-023-01406-9Episignature analysis of moderate effects and mosaics (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 26, 2023 Category: Genetics & Stem Cells Authors: Konrad Oexle Michael Zech Lara G. St ühn Sandy Siegert Theresa Brunet Wolfgang M. Schmidt Matias Wagner Axel Schmidt Hartmut Engels Erik Tilch Olivier Monestier Anne Destr ėe Britta Hanker Sylvia Boesch Robert Jech Riccardo Berutti Frank Kaiser Bernhard Source Type: research
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros)
European Journal of Human Genetics, Published online: 26 June 2023; doi:10.1038/s41431-023-01414-9Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros) (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 26, 2023 Category: Genetics & Stem Cells Authors: Giuseppe Reynolds Simona Cardaropoli Diana Carli Maria Luca Andrea Gazzin Paola Coppo Roberta La Selva Marilidia Piglionica Rosanna Bagnulo Antonella Turchiano Carlotta Ranieri Nicoletta Resta Alessandro Mussa Source Type: research
Interventions to support patients with sharing genetic test results with at-risk relatives: a synthesis without meta-analysis (SWiM)
European Journal of Human Genetics, Published online: 21 June 2023; doi:10.1038/s41431-023-01400-1Interventions to support patients with sharing genetic test results with at-risk relatives: a synthesis without meta-analysis (SWiM) (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 21, 2023 Category: Genetics & Stem Cells Authors: Lisa Marie Ballard Rebecca Band Anneke M. Lucassen Source Type: research
A survey of genetic and palliative care health professionals’ views of integrating genetics into palliative care
European Journal of Human Genetics, Published online: 21 June 2023; doi:10.1038/s41431-023-01409-6A survey of genetic and palliative care health professionals’ views of integrating genetics into palliative care (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 21, 2023 Category: Genetics & Stem Cells Authors: Stephanie White Erin Turbitt Kris Rogers Kathy Tucker Alison McEwen Megan Best Jane L. Phillips Chris Jacobs Source Type: research
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
European Journal of Human Genetics, Published online: 21 June 2023; doi:10.1038/s41431-023-01410-zBRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 21, 2023 Category: Genetics & Stem Cells Authors: Camille Engel St éphanie Valence Geoffroy Delplancq Reza Maroofian Andrea Accogli Emanuele Agolini Fowzan S. Alkuraya Valentina Baglioni Irene Bagnasco Mathilde Becmeur-Lefebvre Enrico Bertini Ingo Borggraefe Elise Brischoux-Boucher Ange-Line Bruel Alfre Source Type: research
What is health and what do we mean when we say an intervention improves health?
European Journal of Human Genetics, Published online: 21 June 2023; doi:10.1038/s41431-023-01388-8What is health and what do we mean when we say an intervention improves health? (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 21, 2023 Category: Genetics & Stem Cells Authors: Fiona Ulph Source Type: research
Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing
European Journal of Human Genetics, Published online: 19 June 2023; doi:10.1038/s41431-023-01407-8Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 19, 2023 Category: Genetics & Stem Cells Authors: Julian Theuriet Gorka Fernandez-Eulate Philippe Latour Tanya Stojkovic Marion Masingue L éo Vidoni Emilien Bernard Arnaud Jacquier Laurent Schaeffer Emmanuelle Salort-Campana Jean-Baptiste Chanson Aleksandra Nadaj Pakleza Anne-Laure Kaminsky Juliette Sva Source Type: research
