Clinical impact of preemptive pharmacogenomic testing on antiplatelet therapy in a real-world setting
European Journal of Human Genetics, Published online: 29 February 2024; doi:10.1038/s41431-024-01567-1Clinical impact of preemptive pharmacogenomic testing on antiplatelet therapy in a real-world setting (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 29, 2024 Category: Genetics & Stem Cells Authors: Amanda Massmann Kurt D. Christensen Joel Van Heukelom April Schultz Muhammad Hamza Saad Shaukat Catherine Hajek Max Weaver Robert C. Green Ann Chen Wu Madison R. Hickingbotham Emilie S. Zoltick Adam Stys Tomasz P. Stys Source Type: research
Experiences of pediatric cancer patients (age 12–18 years) with extensive germline sequencing for cancer predisposition: a qualitative study
European Journal of Human Genetics, Published online: 27 February 2024; doi:10.1038/s41431-024-01565-3Experiences of pediatric cancer patients (age 12–18 years) with extensive germline sequencing for cancer predisposition: a qualitative study (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 27, 2024 Category: Genetics & Stem Cells Authors: Sebastian B. B. Bon Roel H. P. Wouters Jette J. Bakhuizen Marjolijn C. J. Jongmans Marry M. van den Heuvel-Eibrink Martha A. Grootenhuis Source Type: research
What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability
European Journal of Human Genetics, Published online: 20 February 2024; doi:10.1038/s41431-024-01555-5What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 20, 2024 Category: Genetics & Stem Cells Authors: Alan Ma Rosie O ’Shea Laura Wedd Claire Wong Robyn V Jamieson Nicole Rankin Source Type: research
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth
European Journal of Human Genetics, Published online: 19 February 2024; doi:10.1038/s41431-024-01563-5Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 19, 2024 Category: Genetics & Stem Cells Authors: Frederike L. Harms Jessica Erin Rexach Stephanie Efthymiou Busra Aynekin H üseyin Per Ayten G üleç Sheela Nampoothiri Hugo Sampaio Rani Sachdev Radka Stoeva Kasiani Myers Loren D. M. Pena Theodosia A. Kalfa Marisa Chard Megan Klassen Megan Pries Kersti Source Type: research
Perceptions and preferences for genetic testing for sickle cell disease or trait: a qualitative study in Cameroon, Ghana and Tanzania
European Journal of Human Genetics, Published online: 19 February 2024; doi:10.1038/s41431-024-01553-7Perceptions and preferences for genetic testing for sickle cell disease or trait: a qualitative study in Cameroon, Ghana and Tanzania (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 19, 2024 Category: Genetics & Stem Cells Authors: Nchangwi Syntia Munung Karen Kengne Kamga Marsha J Treadwell Jemima Dennis-Antwi Kofi A Anie Daima Bukini Julie Makani Ambroise Wonkam Source Type: research
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2
European Journal of Human Genetics, Published online: 19 February 2024; doi:10.1038/s41431-024-01562-6Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2 (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 19, 2024 Category: Genetics & Stem Cells Authors: Memoona Ramzan Mohammad Faraz Zafeer Clemer Abad Shengru Guo Daniel Owrang Ozgul Alper Ahmet Mutlu Tahir Atik Duygu Duman Guney Bademci Barbara Vona Mahmut Tayyar Kalcioglu Katherina Walz Mustafa Tekin Source Type: research
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study
European Journal of Human Genetics, Published online: 15 February 2024; doi:10.1038/s41431-024-01560-8Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 15, 2024 Category: Genetics & Stem Cells Authors: Alix Paulet Cavan Bennett-Ness Faustine Ageorges Detlef Trost Andrew Green David Goudie Rosalyn Jewell Minna Kraatari-Tiri Juliette PIARD Christine Coubes Wayne Lam Sally Ann Lynch Groeschel Samuel Francis Ramond Jo ël Fluss Christina Fagerberg Charlotte Source Type: research
The interplay of ethics and genetic technologies in balancing the social valuation of the human genome in UNESCO declarations
European Journal of Human Genetics, Published online: 15 February 2024; doi:10.1038/s41431-024-01549-3The interplay of ethics and genetic technologies in balancing the social valuation of the human genome in UNESCO declarations (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 15, 2024 Category: Genetics & Stem Cells Authors: Hristina Gaydarska Kayo Takashima Shibly Shahrier Aviad Raz Jusaku Minari Source Type: research
Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway
European Journal of Human Genetics, Published online: 15 February 2024; doi:10.1038/s41431-024-01550-wIdentification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 15, 2024 Category: Genetics & Stem Cells Authors: Fiona E. McRonald Joanna Pethick Francesco Santaniello Brian Shand Adele Tyson Oliver Tulloch Shilpi Goel Margreet L üchtenborg Gillian M. Borthwick Clare Turnbull Adam C. Shaw Kevin J. Monahan Ian M. Frayling Steven Hardy John Burn Source Type: research
Thirty-year of genetic counselling education in Europe: a growing professional area
European Journal of Human Genetics, Published online: 15 February 2024; doi:10.1038/s41431-024-01552-8Thirty-year of genetic counselling education in Europe: a growing professional area (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 15, 2024 Category: Genetics & Stem Cells Authors: M. Paneque R. O ´Shea A. Narravula E. Siglen A. Ciuca A. Abul í C. Serra-Juh é Source Type: research
Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells
European Journal of Human Genetics, Published online: 15 February 2024; doi:10.1038/s41431-024-01561-7Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 15, 2024 Category: Genetics & Stem Cells Authors: Zain Awamleh Sanaa Choufani Wendy Wu Dmitrijs Rots Alexander J. M. Dingemans Nael Nadif Kasri Susana Boronat Salvador Iba ñez-Mico Laura Cuesta Herraiz Irene Ferrer Antonio Mart ínez Carrascal Luis A. P érez-Jurado Gemma Aznar Lain Juan Dario Ortigoza- Source Type: research
Ethical and social reflections on the proposed European Health Data Space
European Journal of Human Genetics, Published online: 14 February 2024; doi:10.1038/s41431-024-01543-9Ethical and social reflections on the proposed European Health Data Space (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 14, 2024 Category: Genetics & Stem Cells Authors: Ciara Staunton Mahsa Shabani Deborah Mascalzoni Signe Me žinska Santa Slokenberga Source Type: research
The experience of receiving a letter from a cancer genetics clinic about risk for hereditary cancer
European Journal of Human Genetics, Published online: 14 February 2024; doi:10.1038/s41431-024-01551-9The experience of receiving a letter from a cancer genetics clinic about risk for hereditary cancer (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 14, 2024 Category: Genetics & Stem Cells Authors: Anna Öfverholm Per Karlsson Anna Ros én Source Type: research
Identification of the DNA methylation signature of Mowat-Wilson syndrome
European Journal of Human Genetics, Published online: 13 February 2024; doi:10.1038/s41431-024-01548-4Identification of the DNA methylation signature of Mowat-Wilson syndrome (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 13, 2024 Category: Genetics & Stem Cells Authors: Stefano Giuseppe Caraffi Liselot van der Laan Kathleen Rooney Slavica Trajkova Roberta Zuntini Raissa Relator Sadegheh Haghshenas Michael A. Levy Chiara Baldo Giorgia Mandrile Carolyn Lauzon Duccio Maria Cordelli Ivan Ivanovski Anna Fetta Elena Sukarova A Source Type: research
Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct
European Journal of Human Genetics, Published online: 13 February 2024; doi:10.1038/s41431-024-01558-2Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 13, 2024 Category: Genetics & Stem Cells Authors: Romain Nicolle Lucile Boutaud Laurence Loeuillet Naima Talhi Sarah Grotto Nicolas Bourgon Agnese Feresin Aur élie Coussement Mathilde Barrois Marie-Paule Beaujard Thomas Rambaud F érechté Razavi Tania Atti é-Bitach Source Type: research
