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
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements
European Journal of Human Genetics, Published online: 11 April 2024; doi:10.1038/s41431-024-01593-zChromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 11, 2024 Category: Genetics & Stem Cells Authors: Thomas W. Laver Matthew N. Wakeling Richard C. Caswell Benjamin Bunce Daphne Yau Jonna M. E. M ännistö Jayne A. L. Houghton Jasmin J. Hopkins Michael N. Weedon Vrinda Saraff Melanie Kershaw Engela M. Honey Nuala Murphy Dinesh Giri Stuart Nath Ana Tangar Source Type: research
Gene pool preservation across time and space In Mongolian-speaking Oirats
European Journal of Human Genetics, Published online: 11 April 2024; doi:10.1038/s41431-024-01588-wGene pool preservation across time and space In Mongolian-speaking Oirats (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 11, 2024 Category: Genetics & Stem Cells Authors: Natalia Balinova Georgi Hudja šov Vasili Pankratov Erwan Pennarun Maere Reidla Ene Metspalu Valery Batyrov Irina Khomyakova Tuuli Reisberg J üri Parik Murat Dzhaubermezov Elena Aiyzhy Altana Balinova Galina El ’chinova Nailya Spitsyna Elza Khusnutdino Source Type: research
Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder
European Journal of Human Genetics, Published online: 11 April 2024; doi:10.1038/s41431-024-01569-zRole of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 11, 2024 Category: Genetics & Stem Cells Authors: Sameer Bhatia Swasti Pal Samarth Kulshrestha Dhiren Gupta Arun Soni Renu Saxena Sunita Bijarnia-Mahay Ishwar Chander Verma Ratna Dua Puri Source Type: research
Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia
European Journal of Human Genetics, Published online: 11 April 2024; doi:10.1038/s41431-024-01599-7Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 11, 2024 Category: Genetics & Stem Cells Authors: Andrew Fleming Miranda Galey Lizi Briggs Matthew Edwards Claire Hogg Shibu John Sam Wilkinson Ellie Quinn Ranjit Rai Tom Burgoyne Andy Rogers Mitali P. Patel Paul Griffin Steven Muller Siobhan B. Carr Michael R. Loebinger Jane S. Lucas Anand Shah Ricardo Source Type: research
Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options
European Journal of Human Genetics, Published online: 11 April 2024; doi:10.1038/s41431-024-01601-2Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 11, 2024 Category: Genetics & Stem Cells Authors: Niels Vos Lotte Kleinendorst Liselot van der Laan Jorrit van Uhm Philip R. Jansen Agnies M. van Eeghen Saskia M. Maas Marcel M.A.M. Mannens Mieke M. van Haelst Source Type: research
Artificial intelligence – the next generation of sequencing?
European Journal of Human Genetics, Published online: 05 April 2024; doi:10.1038/s41431-024-01595-xArtificial intelligence – the next generation of sequencing? (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 5, 2024 Category: Genetics & Stem Cells Authors: Alisdair McNeill Source Type: research
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction of CYP2C9, HLA-A and HLA-B with anti-epileptic drugs
European Journal of Human Genetics, Published online: 03 April 2024; doi:10.1038/s41431-024-01572-4Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction of CYP2C9, HLA-A and HLA-B with anti-epileptic drugs (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 3, 2024 Category: Genetics & Stem Cells Authors: Lisanne E. N. Manson Marga Nijenhuis Bianca Soree Nienke J. de Boer-Veger Anne-Marie Buunk Elisa J. F. Houwink Arne Risselada Gerard A. P. J. M. Rongen Ron H. N. van Schaik Jesse J. Swen Daan J. Touw Roos van Westrhenen Vera H. M. Deneer Henk-Jan Guchelaa Source Type: research
