A framework for evaluating long-term impact of newborn screening
European Journal of Human Genetics, Published online: 03 October 2023; doi:10.1038/s41431-023-01469-8A framework for evaluating long-term impact of newborn screening (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 3, 2023 Category: Genetics & Stem Cells Authors: Shona Kalkman Ron A. Wevers Frits A. Wijburg Mariska M. G. Leeflang Source Type: research
‘It’s a nightmare’: informed consent in paediatric genome-wide sequencing. A qualitative expert interview study from Germany and Switzerland
European Journal of Human Genetics, Published online: 29 September 2023; doi:10.1038/s41431-023-01468-9‘It’s a nightmare’: informed consent in paediatric genome-wide sequencing. A qualitative expert interview study from Germany and Switzerland (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 29, 2023 Category: Genetics & Stem Cells Authors: Johanna Eichinger Bettina Zimmermann Bernice Elger Stuart McLennan Isabel Filges Insa Kon é Source Type: research
Emerging cancer risks in BRCA2 pathogenic germline variant carriers
European Journal of Human Genetics, Published online: 28 September 2023; doi:10.1038/s41431-023-01465-yEmerging cancer risks in BRCA2 pathogenic germline variant carriers (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 28, 2023 Category: Genetics & Stem Cells Authors: Patrick R. Benusiglio Antoine Dardenne Vincent Fallet Jacques Cadranel Source Type: research
Expanding what we know about rare genetic diseases
European Journal of Human Genetics, Published online: 27 September 2023; doi:10.1038/s41431-023-01453-2Expanding what we know about rare genetic diseases (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Alisdair McNeill Source Type: research
A linear weighted combination of polygenic scores for a broad range of traits improves prediction of coronary heart disease
European Journal of Human Genetics, Published online: 26 September 2023; doi:10.1038/s41431-023-01463-0A linear weighted combination of polygenic scores for a broad range of traits improves prediction of coronary heart disease (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 26, 2023 Category: Genetics & Stem Cells Authors: Kristjan Norland Daniel J. Schaid Iftikhar J. Kullo Source Type: research
Risk perception and intended behavior change after uninformative genetic results for adult-onset hereditary conditions in unselected patients
European Journal of Human Genetics, Published online: 26 September 2023; doi:10.1038/s41431-023-01460-3Risk perception and intended behavior change after uninformative genetic results for adult-onset hereditary conditions in unselected patients (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 26, 2023 Category: Genetics & Stem Cells Authors: Nandana D. Rao Kristine M. King Jailanie Kaganovsky Sajida Hassan Darwin Tsinajinne Stephanie M. Fullerton Annie T. Chen David L. Veenstra Brian H. Shirts Source Type: research
Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown–Rahman syndrome
European Journal of Human Genetics, Published online: 22 September 2023; doi:10.1038/s41431-023-01459-wMethylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown–Rahman syndrome (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 22, 2023 Category: Genetics & Stem Cells Authors: Candy Kumps Erika D ’haenens Jennifer Kerkhof Haley McConkey Marielle Alders Bekim Sadikovic Olivier M. Vanakker Source Type: research
Goldilocks principle and recessive disease
European Journal of Human Genetics, Published online: 22 September 2023; doi:10.1038/s41431-023-01458-xGoldilocks principle and recessive disease (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 22, 2023 Category: Genetics & Stem Cells Authors: Alexandre Fabre Paul Guerry Source Type: research
Evaluation of CTRL: a web application for dynamic consent and engagement with individuals involved in a cardiovascular genetic disorders cohort
European Journal of Human Genetics, Published online: 14 September 2023; doi:10.1038/s41431-023-01454-1Evaluation of CTRL: a web application for dynamic consent and engagement with individuals involved in a cardiovascular genetic disorders cohort (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 14, 2023 Category: Genetics & Stem Cells Authors: Matilda A. Haas Evanthia O. Madelli Rosie Brown Megan Prictor Tiffany Boughtwood Source Type: research
Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families
European Journal of Human Genetics, Published online: 14 September 2023; doi:10.1038/s41431-023-01447-0Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 14, 2023 Category: Genetics & Stem Cells Authors: Vani Jain Seow Hoong Foo Stephen Chooi Celia Moss Richard Goodwin Siren Berland Angus J. Clarke Sally J. Davies Sian Corrin Oliver Murch Samantha Doyle Gail E. Graham Lynn Greenhalgh Susan E. Holder Diana Johnson Ajith Kumar Roger L. Ladda Susan Sell Ambe Source Type: research
The reuse of genetic information in research and informed consent
European Journal of Human Genetics, Published online: 13 September 2023; doi:10.1038/s41431-023-01457-yThe reuse of genetic information in research and informed consent (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 13, 2023 Category: Genetics & Stem Cells Authors: David Lorenzo Montse Esquerda Margarita Bofarull Victoria Cusi Helena Roig Joan Bertran Joan Carrera Francesc Torralba Francisco Jos é Cambra Mart í Vila Martina Garriga Francesc Palau Source Type: research
The molecular genetics of nELAVL in brain development and disease
European Journal of Human Genetics, Published online: 12 September 2023; doi:10.1038/s41431-023-01456-zThe molecular genetics of nELAVL in brain development and disease (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 12, 2023 Category: Genetics & Stem Cells Authors: Meghan R. Mulligan Louise S. Bicknell Source Type: research
A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome
European Journal of Human Genetics, Published online: 08 September 2023; doi:10.1038/s41431-023-01455-0A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 8, 2023 Category: Genetics & Stem Cells Authors: Elin Ola Klemenzdottir Gudny Anna Arnadottir Brynjar Orn Jensson Adalbjorg Jonasdottir Hildigunnur Katrinardottir Run Fridriksdottir Aslaug Jonasdottir Asgeir Sigurdsson Sigurjon Axel Gudjonsson Jon Johannes Jonsson Vigdis Stefansdottir Ragnar Danielsen A Source Type: research
Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly
European Journal of Human Genetics, Published online: 08 September 2023; doi:10.1038/s41431-023-01450-5Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 8, 2023 Category: Genetics & Stem Cells Authors: Muhammad Bilal Hammal Khan Muhammad Javed Khan Tobias B. Haack Rebecca Buchert Khurram Liaqat Kifayat Ullah Sohail Ahmed Thashi Bharadwaj Anushree Acharya Susana Peralta Najumuddin Hamid Ali Muhammad Sharif Hasni Isabelle Schrauwen Asmat Ullah Wasim Ahmad Source Type: research
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return
European Journal of Human Genetics, Published online: 07 September 2023; doi:10.1038/s41431-023-01451-4Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 7, 2023 Category: Genetics & Stem Cells Authors: Emily A. Huth Xiaonan Zhao Nichole Owen Pamela N. Luna Ida Vogel Inger L. H. Dorf Shelagh Joss Jill Clayton-Smith Michael J. Parker Jacoba J. Louw Marc Gewillig Jeroen Breckpot Alison Kraus Erina Sasaki Usha Kini Trent Burgess Tiong Y. Tan Ruth Armstrong Source Type: research
