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: 11 May 2023; doi:10.1038/s41431-023-01373-1Community 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 11, 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
Australian public perspectives on genomic data governance: responsibility, regulation, and logistical considerations
European Journal of Human Genetics, Published online: 10 May 2023; doi:10.1038/s41431-023-01381-1Australian public perspectives on genomic data governance: responsibility, regulation, and logistical considerations (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 10, 2023 Category: Genetics & Stem Cells Authors: Fiona Lynch Yan Meng Stephanie Best Ilias Goranitis Julian Savulescu Christopher Gyngell Danya F. Vears Source Type: research
Contributing to the on-going debate around the clinical application of preimplantation embryo selection based on polygenic risk scores (PGT-P)
European Journal of Human Genetics, Published online: 10 May 2023; doi:10.1038/s41431-023-01372-2Contributing to the on-going debate around the clinical application of preimplantation embryo selection based on polygenic risk scores (PGT-P) (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 10, 2023 Category: Genetics & Stem Cells Authors: Periklis Makrythanasis Georgia Kakourou Thalia Mamas Christina Vrettou Jan Traeger-Synodinos Source Type: research
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
European Journal of Human Genetics, Published online: 10 May 2023; doi:10.1038/s41431-023-01339-3Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 10, 2023 Category: Genetics & Stem Cells Source Type: research
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Hybrid Posters
European Journal of Human Genetics, Published online: 10 May 2023; doi:10.1038/s41431-023-01338-4Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Hybrid Posters (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 10, 2023 Category: Genetics & Stem Cells Source Type: research
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations
European Journal of Human Genetics, Published online: 10 May 2023; doi:10.1038/s41431-023-01337-5Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 10, 2023 Category: Genetics & Stem Cells Source Type: research
Abdominal obesity is a more important causal risk factor for pancreatic cancer than overall obesity
European Journal of Human Genetics, Published online: 10 May 2023; doi:10.1038/s41431-023-01301-3Abdominal obesity is a more important causal risk factor for pancreatic cancer than overall obesity (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 10, 2023 Category: Genetics & Stem Cells Authors: Jared G. Maina Vincent Pascat Liudmila Zudina Anna Ulrich Igor Pupko Am élie Bonnefond Zhanna Balkhiyarova Marika Kaakinen Philippe Froguel Inga Prokopenko Source Type: research
Dopa-responsive dystonia in Bulgarian patients: report of three cases
We report three cases of DRD. Two boys (1.5-year-old and 1.3-year-old) were diagnosed with TH deficiency and found to have compound heterozygous missense variants in the TH gene. For the first patient p.Arg202His and the p.Leu205Pro in the TH gene, were reported. In the second patient were revealed p.Thr373Met and p.Arg202His variants in the same gene. The third patient, a 10-years old boy was diagnosed with GCH1 deficiency due to heterozygous pathogenic variant (p.Lys224Arg) in the GCH1 gene. The diagnosis of DRD was determined by whole exome sequencing (Patient 1) and whole genome sequencing (Patients 2 and 3). Here, we ...
Source: European Journal of Human Genetics - May 10, 2023 Category: Genetics & Stem Cells Authors: Maya Atanasoska Radoslava Vazharova Galina Stevanovi ć Irena Bradinova Slavyana Yaneva Staykova Lubomir Balabanski Daniela Mircheva Daniela Avdjieva-Tzavella Draga Toncheva Source Type: research
Molecular explanations for variability of clinical phenotypes
European Journal of Human Genetics, Published online: 10 May 2023; doi:10.1038/s41431-023-01365-1Molecular explanations for variability of clinical phenotypes (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 10, 2023 Category: Genetics & Stem Cells Authors: Alisdair McNeill Source Type: research
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference
European Journal of Human Genetics, Published online: 10 May 2023; doi:10.1038/s41431-023-01346-4Abstracts from the 55th European Society of Human Genetics (ESHG) Conference (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 10, 2023 Category: Genetics & Stem Cells Source Type: research
Global trends and themes in genetic counseling research
European Journal of Human Genetics, Published online: 04 May 2023; doi:10.1038/s41431-023-01371-3Global trends and themes in genetic counseling research (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 4, 2023 Category: Genetics & Stem Cells Authors: Wan Nur Amalina Zakaria Sook-Yee Yoon Adi Wijaya Asma Hayati Ahmad Rahimah Zakaria Zahiruddin Othman Source Type: research
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome
European Journal of Human Genetics, Published online: 02 May 2023; doi:10.1038/s41431-023-01368-yExpanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 2, 2023 Category: Genetics & Stem Cells Authors: Gholson J. Lyon Marall Vedaie Travis Beisheim Agnes Park Elaine Marchi Leah Gottlieb Tzung-Chien Hsieh Hannah Klinkhammer Katherine Sandomirsky Hanyin Cheng Lois J. Starr Isabelle Preddy Marcellus Tseng Quan Li Yu Hu Kai Wang Ana Carvalho Francisco Martin Source Type: research
Underrepresentation of racial and ethnic minorities in cascade testing for hereditary cancer syndromes
European Journal of Human Genetics, Published online: 28 April 2023; doi:10.1038/s41431-023-01364-2Underrepresentation of racial and ethnic minorities in cascade testing for hereditary cancer syndromes (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 28, 2023 Category: Genetics & Stem Cells Authors: Muhammad Danyal Ahsan Emily M. Webster Natalie T. Nguyen Murtaza Qazi Sarah R. Levi Lisa C. Diamond Ravi N. Sharaf Melissa K. Frey Source Type: research
Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia
European Journal of Human Genetics, Published online: 28 April 2023; doi:10.1038/s41431-023-01363-3Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 28, 2023 Category: Genetics & Stem Cells Authors: Yesim Kesim Fabiola Ceroni Alejandra Dami án Fiona Blanco-Kelly Carmen Ayuso Kathy Williamson V éronique Paquis-Flucklinger Dorine A Bax Julie Plaisanci é Claudine Rieubland Mostafa Chamlal Marta Cort ón Nicolas Chassaing Patrick Calvas Nicola K Ragge Source Type: research
Lynch syndrome: influence of additional susceptibility variants on cancer risk
European Journal of Human Genetics, Published online: 24 April 2023; doi:10.1038/s41431-023-01367-zLynch syndrome: influence of additional susceptibility variants on cancer risk (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 24, 2023 Category: Genetics & Stem Cells Authors: Roseline Vibert Jasmine Hasnaoui Alexandre Perrier Alexandra Lefebvre Chrystelle Colas Marion Dhooge No émie Basset Albain Chansavang Camille Desseignes Alex Duval Solenne Farelly Nadim Hamzaoui Pierre Laurent-Puig Julie Metras Diane Moliere Martine Mule Source Type: research
