The future is mainstream: genetic counselling should be embedded in mainstream medicine
European Journal of Human Genetics, Published online: 01 June 2023; doi:10.1038/s41431-023-01393-xThe future is mainstream: genetic counselling should be embedded in mainstream medicine (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 1, 2023 Category: Genetics & Stem Cells Authors: Ellie Quinn Source Type: research
Comment on: “The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome” by Nielsen-Dandoroff et al.
European Journal of Human Genetics, Published online: 30 May 2023; doi:10.1038/s41431-023-01397-7Comment on: “The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome” by Nielsen-Dandoroff et al. (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 30, 2023 Category: Genetics & Stem Cells Authors: Annalisa Vetro Source Type: research
Exploring genotype–phenotype correlations in CREBBP: comment on the literature and description of an additional patient with an atypical outcome
European Journal of Human Genetics, Published online: 29 May 2023; doi:10.1038/s41431-023-01385-xExploring genotype–phenotype correlations in CREBBP: comment on the literature and description of an additional patient with an atypical outcome (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 29, 2023 Category: Genetics & Stem Cells Authors: Krista M. Vincent Gail E. Graham Source Type: research
Analysis of large-language model versus human performance for genetics questions
European Journal of Human Genetics, Published online: 29 May 2023; doi:10.1038/s41431-023-01396-8Analysis of large-language model versus human performance for genetics questions (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 29, 2023 Category: Genetics & Stem Cells Authors: Dat Duong Benjamin D. Solomon Source Type: research
An adaptive and robust method for multi-trait analysis of genome-wide association studies using summary statistics
European Journal of Human Genetics, Published online: 26 May 2023; doi:10.1038/s41431-023-01389-7An adaptive and robust method for multi-trait analysis of genome-wide association studies using summary statistics (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 26, 2023 Category: Genetics & Stem Cells Authors: Qiaolan Deng Chi Song Shili Lin Source Type: research
Genetic testing in monogenic early-onset atrial fibrillation
European Journal of Human Genetics, Published online: 22 May 2023; doi:10.1038/s41431-023-01383-zGenetic testing in monogenic early-onset atrial fibrillation (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 22, 2023 Category: Genetics & Stem Cells Authors: Brandon Chalazan Emma Freeth Arezoo Mohajeri Krishnan Ramanathan Matthew Bennett Jagdeep Walia Laura Halperin Thomas Roston Julieta Lazarte Robert A. Hegele Anna Lehman Zachary Laksman Source Type: research
New insights into the molecular basis of spinal neurofibromatosis type 1
European Journal of Human Genetics, Published online: 22 May 2023; doi:10.1038/s41431-023-01377-xNew insights into the molecular basis of spinal neurofibromatosis type 1 (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 22, 2023 Category: Genetics & Stem Cells Authors: Paola Bettinaglio Eleonora Mangano Viviana Tritto Roberta Bordoni Rosina Paterra Arianna Borghi Marinella Volont è Cristina Battaglia Veronica Saletti Claudia Cesaretti Federica Natacci Mariarosa A. B. Melone Marica Eoli Paola Riva Source Type: research
A novel genomic mutation in ADNP leading to intellectual disability
European Journal of Human Genetics, Published online: 22 May 2023; doi:10.1038/s41431-023-01387-9A novel genomic mutation in ADNP leading to intellectual disability (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 22, 2023 Category: Genetics & Stem Cells Authors: Illana Gozes Source Type: research
Correction: Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing
European Journal of Human Genetics, Published online: 22 May 2023; doi:10.1038/s41431-023-01391-zCorrection: Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 22, 2023 Category: Genetics & Stem Cells Authors: Jane Tiller Andrew Bakshi Grace Dowling Louise Keogh Aideen McInerney-Leo Kristine Barlow-Stewart Tiffany Boughtwood Penny Gleeson Martin B. Delatycki Ingrid Winship Margaret Otlowski Paul Lacaze Source Type: research
Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathy
European Journal of Human Genetics, Published online: 17 May 2023; doi:10.1038/s41431-023-01384-yDiagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathy (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 17, 2023 Category: Genetics & Stem Cells Authors: Sophie L. V. M. Stroeks Debby Hellebrekers Godelieve R. F. Claes Ingrid P. C. Krapels Michiel H. T. M. Henkens Maurits Sikking Els K. Vanhoutte Apollonia Helderman-van den Enden Han G. Brunner Arthur van den Wijngaard Job A. J. Verdonschot Source Type: research
2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review
European Journal of Human Genetics, Published online: 15 May 2023; doi:10.1038/s41431-023-01379-92p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 15, 2023 Category: Genetics & Stem Cells Authors: Malek Bouassida Matthieu Egloff Jonathan Levy Nicolas Chatron Laura Bernardini Gwena ël Le Guyader Anne-Claude Tabet Caroline Schluth-Bolard Francesco Brancati Maria Grazia Giuffrida Rodolphe Dard Juliette Clorennec Juliette Coursimault Fran çois Vialar Source Type: research
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals
European Journal of Human Genetics, Published online: 15 May 2023; doi:10.1038/s41431-023-01382-0Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 15, 2023 Category: Genetics & Stem Cells Authors: Henrike L. Sczakiel Max Zhao Brigitte Wollert-Wulf Magdalena Danyel Nadja Ehmke Corinna Stoltenburg Nadirah Damseh Motee Al-Ashhab Tugce B. Balci Matthew Osmond Andrea Andrade Jens Schallner Joseph Porrmann Kimberly McDonald Mingjuan Liao Henry Oppermann Source Type: research
Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients
European Journal of Human Genetics, Published online: 15 May 2023; doi:10.1038/s41431-023-01380-2Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 15, 2023 Category: Genetics & Stem Cells Authors: Jan Henkel Andreas Laner Melanie Locher Tobias Wohlfrom Birgit Neitzel Kerstin Becker Teresa Neuhann Angela Abicht Verena Steinke-Lange Elke Holinski-Feder Source Type: research
Investigation and management of pediatric moyamoya arteriopathy in the era of genotype-phenotype correlation studies
European Journal of Human Genetics, Published online: 15 May 2023; doi:10.1038/s41431-023-01369-xInvestigation and management of pediatric moyamoya arteriopathy in the era of genotype-phenotype correlation studies (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 15, 2023 Category: Genetics & Stem Cells Authors: M. L. Kaseka N. Dlamini Source Type: research
Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss
European Journal of Human Genetics, Published online: 12 May 2023; doi:10.1038/s41431-023-01374-0Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 12, 2023 Category: Genetics & Stem Cells Authors: Christel Vach é Nicolas Cubedo Luke Mansard J érôme Sarniguet David Baux Val érie Faugère Corinne Baudoin Melody Moclyn Renaud Touraine Genevi ève Lina-Granade Mireille Coss ée Anne Bergougnoux Vasiliki Kalatzis Mireille Rossel Anne-Fran çoise Rou Source Type: research
