Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome
European Journal of Human Genetics, Published online: 03 May 2024; doi:10.1038/s41431-024-01619-6Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 3, 2024 Category: Genetics & Stem Cells Authors: Swati Singh Sheela Nampoothiri Dhanya Lakshmi Narayanan Chakshu Chaudhry Sandesh Salvankar Katta M. Girisha Source Type: research
Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders
European Journal of Human Genetics, Published online: 03 May 2024; doi:10.1038/s41431-024-01576-0Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 3, 2024 Category: Genetics & Stem Cells Authors: Xiaona Lu Kim Ng Filippo Pinto e Vairo James Collins Ronald Cohn Kacie Riley Katherine Agre Ralitza Gavrilova Eric W. Klee Jill A. Rosenfeld Yong-hui Jiang Source Type: research
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction
European Journal of Human Genetics, Published online: 03 May 2024; doi:10.1038/s41431-024-01615-wCOQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 3, 2024 Category: Genetics & Stem Cells Authors: Ilaria Pettenuzzo Sara Carli Ana S ánchez-Cuesta Federica Isidori Francesca Montanari Mina Grippa Giulia Lanzoni Irene Ambrosetti Veronica Di Pisa Duccio Maria Cordelli Maria Cristina Mondardini Tommaso Pippucci Luca Ragni Giovanna Cenacchi Roberta Costa Source Type: research
Utility of next generation sequencing in paediatric neurological disorders: experience from South Africa
European Journal of Human Genetics, Published online: 03 May 2024; doi:10.1038/s41431-024-01582-2Utility of next generation sequencing in paediatric neurological disorders: experience from South Africa (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 3, 2024 Category: Genetics & Stem Cells Authors: Magriet van Niekerk Shahida Moosa Ronald van Toorn Regan Solomons Source Type: research
Novel insights into cancer predisposition genes
European Journal of Human Genetics, Published online: 30 April 2024; doi:10.1038/s41431-024-01620-zNovel insights into cancer predisposition genes (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 30, 2024 Category: Genetics & Stem Cells Authors: Alisdair McNeill Source Type: research
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
European Journal of Human Genetics, Published online: 27 April 2024; doi:10.1038/s41431-024-01610-1Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 27, 2024 Category: Genetics & Stem Cells Authors: Dana E. Layo-Carris Emily E. Lubin Annabel K. Sangree Kelly J. Clark Emily L. Durham Elizabeth M. Gonzalez Sarina Smith Rajesh Angireddy Xiao Min Wang Erin Weiss Roberto Mendoza-Londono Lucie Dupuis Nadirah Damseh Danita Velasco Irene Valenzuela Marta Cod Source Type: research
Negotiating severity behind the scenes: prenatal testing in Germany
European Journal of Human Genetics, Published online: 27 April 2024; doi:10.1038/s41431-024-01612-zNegotiating severity behind the scenes: prenatal testing in Germany (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 27, 2024 Category: Genetics & Stem Cells Authors: Tamar Nov-Klaiman Hilary Bowman-Smart Ruth Horn Source Type: research
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India
European Journal of Human Genetics, Published online: 25 April 2024; doi:10.1038/s41431-024-01577-zThe first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 25, 2024 Category: Genetics & Stem Cells Authors: Venugopalan Y. Vishnu Richard J. L. F. Lemmers Alisha Reyaz Rinkle Mishra Tanveer Ahmad Patrick J. van der Vliet Marcelina M. Kretkiewicz William L. Macken Stephanie Efthymiou Natalia Dominik Jasper M. Morrow Rohit Bhatia Lindsay A. Wilson Henry Houlden M Source Type: research
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells
European Journal of Human Genetics, Published online: 24 April 2024; doi:10.1038/s41431-024-01598-8Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 24, 2024 Category: Genetics & Stem Cells Authors: Maria A. Andrianova Vladimir B. Seplyarskiy Mariona Terradas Ana Beatriz S ánchez-Heras Pilar Mur Jos é Luis Soto Gemma Aiza Emma Borr às Fyodor A. Kondrashov Alexey S. Kondrashov Georgii A. Bazykin Laura Valle Source Type: research
“Uninsurable because of a genetic test”: a qualitative study of consumer views about the use of genetic test results in Australian life insurance
European Journal of Human Genetics, Published online: 19 April 2024; doi:10.1038/s41431-024-01602-1“Uninsurable because of a genetic test”: a qualitative study of consumer views about the use of genetic test results in Australian life insurance (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 19, 2024 Category: Genetics & Stem Cells Authors: Cassandra Muller Lyndon Gallacher Louise Keogh Aideen McInerney-Leo Tiffany Boughtwood Penny Gleeson Kristine Barlow-Stewart Martin B. Delatycki Ingrid Winship Kristen J. Nowak Margaret Otlowski Paul Lacaze Jane Tiller Source Type: research
Ethical and social implications of public–private partnerships in the context of genomic/big health data collection
In conclusion, this paper offers a set of minimum requirements for these partnerships within solidarity-based publicly funded healthcare systems. These include the necessity of public-private partnerships to (1) contribute to the public benefit and minimise harm produced by the use of publicly held data; (2) avoid prioritisation of commercial interests over robust governance structures to guarantee benefits to the public and protect donors, especially marginalised groups; (3) side-step the pitfalls of the rhetoric of solidarity and be transparent about the challenges to return the benefits to ‘all’. (Source: European J...
Source: European Journal of Human Genetics - April 16, 2024 Category: Genetics & Stem Cells Authors: Ruth Horn Jennifer Merchant Ruth Horn Jennifer Merchant Mark Bale Natalie Banner Anne Cambon-Thomsen Herve Chneiweiss Angus Clarke Yael Hashiloni-Dolev Angeliki Kerasidou Anneke Lucassen Michael Parker Christine Patch Barbara Prainsack Aviad Raz Gesine Ri Source Type: research
A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis
European Journal of Human Genetics, Published online: 16 April 2024; doi:10.1038/s41431-024-01573-3A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 16, 2024 Category: Genetics & Stem Cells Authors: Yunlu Zhu Yun Bai Wannian Yan Ming Li Fei Wu Mingyuan Xu Nanhui Wu HongSong Ge Yeqiang Liu Source Type: research
Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort
European Journal of Human Genetics, Published online: 16 April 2024; doi:10.1038/s41431-024-01607-wOutcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 16, 2024 Category: Genetics & Stem Cells Authors: Madeline Pearson Ruth McGowan Philip Greene Wayne Lam Zofia Miedzybrodzka Jonathan Berg Source Type: research
Liminality between direct and family-mediated contact in the communication of genetic information to at-risk relatives
European Journal of Human Genetics, Published online: 16 April 2024; doi:10.1038/s41431-024-01605-yLiminality between direct and family-mediated contact in the communication of genetic information to at-risk relatives (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 16, 2024 Category: Genetics & Stem Cells Authors: Álvaro Mendes Ainsley J. Newson Source Type: research
Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders
European Journal of Human Genetics, Published online: 11 April 2024; doi:10.1038/s41431-024-01603-0Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 11, 2024 Category: Genetics & Stem Cells Authors: Edoardo Errichiello Mauro Lecca Chiara Vantaggiato Zoraide Motta Nicoletta Zanotta Claudio Zucca Sara Bertuzzo Luciano Piubelli Loredano Pollegioni Maria Clara Bonaglia Source Type: research
