Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly
European Journal of Human Genetics, Published online: 26 October 2023; doi:10.1038/s41431-023-01461-2Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 26, 2023 Category: Genetics & Stem Cells Authors: Eyyup Uctepe Barbara Vona Fatma Nisa Esen F. Mujgan Sonmez Thomas Smol Sait T ümer Hanifenur Manc ılar Dilan Ece Geylan Durgun Odile Boute Meysam Moghbeli Ehsan Ghayoor Karimiani Narges Hashemi Behnoosh Bakhshoodeh Hyung Goo Kim Reza Maroofian Ahmet Yes Source Type: research
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
European Journal of Human Genetics, Published online: 23 October 2023; doi:10.1038/s41431-023-01474-xEpisignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 23, 2023 Category: Genetics & Stem Cells Authors: Thomas Husson Fran çois Lecoquierre Ga ël Nicolas Anne-Claire Richard Alexandra Afenjar S éverine Audebert-Bellanger Catherine Badens Fr édéric Bilan Varoona Bizaoui Anne Boland Marie-No ëlle Bonnet-Dupeyron Elise Brischoux-Boucher C éline Bonnet M Source Type: research
Rapid genomic testing in critically ill patients with genetic conditions: position statement by the Human Genetics Society of Australasia
European Journal of Human Genetics, Published online: 20 October 2023; doi:10.1038/s41431-023-01477-8Rapid genomic testing in critically ill children is becoming the standard of care where there is a high suspicion of an underlying genetic condition and should be provided equitably for all patients in acute care settings. The HGSA encourages an appropriately resourced multidisciplinary team approach, particularly involving genetic health professionals, wherever practicable in the delivery of rapid genomic testing services. Pre-test genetic counselling should be tailored to the family and followup appointments should be off...
Source: European Journal of Human Genetics - October 20, 2023 Category: Genetics & Stem Cells Authors: Danya F. Vears Fiona Lynch Amy Nisselle Samantha Ayres Zornitza Stark Source Type: research
Parents’ attitudes towards research involving genome sequencing of their healthy children: a qualitative study
European Journal of Human Genetics, Published online: 20 October 2023; doi:10.1038/s41431-023-01476-9Parents’ attitudes towards research involving genome sequencing of their healthy children: a qualitative study (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 20, 2023 Category: Genetics & Stem Cells Authors: Christina Di Carlo Chloe Mighton Marc Clausen Esha Joshi Selina Casalino Theresa H. M. Kim Christine Kowal Catherine Birken Jonathon Maguire Yvonne Bombard Source Type: research
Deep phenotyping and population-level data can help resolve genomic variants
European Journal of Human Genetics, Published online: 20 October 2023; doi:10.1038/s41431-023-01483-wDeep phenotyping and population-level data can help resolve genomic variants (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 20, 2023 Category: Genetics & Stem Cells Authors: Alisdair McNeill Source Type: research
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples
European Journal of Human Genetics, Published online: 19 October 2023; doi:10.1038/s41431-023-01478-7Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 19, 2023 Category: Genetics & Stem Cells Authors: Robin Wijngaard German Demidov Luke O ’Gorman Jordi Corominas-Galbany Burcu Yaldiz Wouter Steyaert Elke de Boer Lisenka E. L. M. Vissers Erik-Jan Kamsteeg Rolph Pfundt Hilde Swinkels Amber den Ouden Iris B. A. W. te Paske Richarda M. de Voer Laurence Fa Source Type: research
Specific measures for data-intensive health research without consent: a systematic review of soft law instruments and academic literature
European Journal of Human Genetics, Published online: 17 October 2023; doi:10.1038/s41431-023-01471-0Specific measures for data-intensive health research without consent: a systematic review of soft law instruments and academic literature (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 17, 2023 Category: Genetics & Stem Cells Authors: Julie-Anne R. Smit Menno Mostert Rieke van der Graaf Diederick E. Grobbee Johannes J. M. van Delden Source Type: research
“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening
European Journal of Human Genetics, Published online: 11 October 2023; doi:10.1038/s41431-023-01473-y“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 11, 2023 Category: Genetics & Stem Cells Authors: Ella Adi-Wauran Marc Clausen Salma Shickh Anna R. Gagliardi Avram Denburg Leslie E. Oldfield Jordan Sam Emma Reble Suvetha Krishnapillai Dean A. Regier Nancy N. Baxter Lesa Dawson Lynette S. Penney William Foulkes Mark Basik Sophie Sun Kasmintan A. Schrad Source Type: research
A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome
European Journal of Human Genetics, Published online: 11 October 2023; doi:10.1038/s41431-023-01475-wA loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 11, 2023 Category: Genetics & Stem Cells Authors: Madiha Amin Malik Muhammad Arif Nadeem Saqib Edwin Mientjes Anushree Acharya Muhammad Rizwan Alam Ilse Wallaard Isabelle Schrauwen Michael J. Bamshad Regie Lyn P. Santos-Cortez Ype Elgersma Suzanne M. Leal Muhammad Ansar Source Type: research
Genomic medicine in neonatal care: progress and challenges
European Journal of Human Genetics, Published online: 04 October 2023; doi:10.1038/s41431-023-01464-zGenomic medicine in neonatal care: progress and challenges (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 4, 2023 Category: Genetics & Stem Cells Authors: Alissa M. D ’Gama Pankaj B. Agrawal Source Type: research
Two new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant
European Journal of Human Genetics, Published online: 04 October 2023; doi:10.1038/s41431-023-01472-zTwo new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 4, 2023 Category: Genetics & Stem Cells Authors: Ozlem Akgun-Dogan Francisca D íaz-González Alexander Augusto de Lima Jorge Neslihan Onenli-Mungan Nathalia Liberatoscioli Menezes Andrade Laurana de Polli Cellin Serdar Ceylaner Maria Barcellos Rosa Modkovski Yasemin Alanay Karen E. Heath Source Type: research
Mitochondrial Cytochrome C deficiency can show the first disease signs in the prenatal stage
European Journal of Human Genetics, Published online: 04 October 2023; doi:10.1038/s41431-023-01466-xMitochondrial Cytochrome C deficiency can show the first disease signs in the prenatal stage (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 4, 2023 Category: Genetics & Stem Cells Authors: Caterina Garone Source Type: research
Ambivalence in genomic healthcare provision, cure or symptom?
European Journal of Human Genetics, Published online: 04 October 2023; doi:10.1038/s41431-023-01467-wAmbivalence in genomic healthcare provision, cure or symptom? (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 4, 2023 Category: Genetics & Stem Cells Authors: Gabriel Watts Source Type: research
Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project
European Journal of Human Genetics, Published online: 03 October 2023; doi:10.1038/s41431-023-01470-1Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 3, 2023 Category: Genetics & Stem Cells Authors: Michelle Peter Jennifer Hammond Saskia C. Sanderson Jana Gurasashvili Amy Hunter Beverly Searle Christine Patch Lyn S. Chitty Melissa Hill Celine Lewis Source Type: research
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
