Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience
European Journal of Human Genetics, Published online: 19 June 2023; doi:10.1038/s41431-023-01404-xPreimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 19, 2023 Category: Genetics & Stem Cells Authors: Vivian Vernimmen Aim ée D. C. Paulussen Jos C. F. M. Dreesen Ron J. van Golde Masoud Zamani Esteki Edith Coonen Marianne L. van Buul-van Zwet Irene Homminga Alwin A. H. A. Derijck Lloyd Brandts Constance T. R. M. Stumpel Christine E. M. de Die-Smulders Source Type: research
Assessing the general public’s view of direct-to-consumer (DTC) genetic testing and their interpretation of DTC website disclaimer messages
European Journal of Human Genetics, Published online: 19 June 2023; doi:10.1038/s41431-023-01411-yAssessing the general public’s view of direct-to-consumer (DTC) genetic testing and their interpretation of DTC website disclaimer messages (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 19, 2023 Category: Genetics & Stem Cells Authors: Madison Ruehl Shelly Hovick Alisdair Philp Kevin Sweet Source Type: research
Correction: The future is mainstream: genetic counselling should be embedded in mainstream medicine
European Journal of Human Genetics, Published online: 19 June 2023; doi:10.1038/s41431-023-01412-xCorrection: The future is mainstream: genetic counselling should be embedded in mainstream medicine (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 19, 2023 Category: Genetics & Stem Cells Authors: Ellie Quinn Source Type: research
Reconciling the biomedical data commons and the GDPR: three lessons from the EUCAN ELSI collaboratory
European Journal of Human Genetics, Published online: 15 June 2023; doi:10.1038/s41431-023-01403-yReconciling the biomedical data commons and the GDPR: three lessons from the EUCAN ELSI collaboratory (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 15, 2023 Category: Genetics & Stem Cells Authors: Alexander Bernier Fruzsina Moln ár-Gábor Bartha M. Knoppers Pascal Borry Priscilla M. D. G. Cesar Thijs Devriendt Melanie Goisauf Madeleine Murtagh Pilar Nicol ás Jiménez Mikel Recuero Emmanuelle Rial-Sebbag Mahsa Shabani Rebecca C. Wilson Davide Zacc Source Type: research
What matters to parents? A scoping review of parents’ service experiences and needs regarding genetic testing for rare diseases
European Journal of Human Genetics, Published online: 12 June 2023; doi:10.1038/s41431-023-01376-yWhat matters to parents? A scoping review of parents’ service experiences and needs regarding genetic testing for rare diseases (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 12, 2023 Category: Genetics & Stem Cells Authors: Erin Crellin Melissa Martyn Belinda McClaren Clara Gaff Source Type: research
The human genome harbours widespread exclusive yin yang haplotypes
European Journal of Human Genetics, Published online: 12 June 2023; doi:10.1038/s41431-023-01399-5The human genome harbours widespread exclusive yin yang haplotypes (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 12, 2023 Category: Genetics & Stem Cells Authors: David Curtis William Amos Source Type: research
Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists
European Journal of Human Genetics, Published online: 12 June 2023; doi:10.1038/s41431-023-01401-0Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 12, 2023 Category: Genetics & Stem Cells Authors: Miranda L. G. Hallquist Maia J. Borensztein Curtis R. Coughlin II Adam H. Buchanan W. Andrew Faucett Holly L. Peay Maureen E. Smith Eric P. Tricou Wendy R. Uhlmann Karen E. Wain Kelly E. Ormond Source Type: research
Three generation families: Analysis of de novo variants in autism
European Journal of Human Genetics, Published online: 06 June 2023; doi:10.1038/s41431-023-01398-6Three generation families: Analysis of de novo variants in autism (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 6, 2023 Category: Genetics & Stem Cells Authors: Claudia I. Samogy Costa Gabriele da Silva Campos Eduarda Morgana da Silva Montenegro Jaqueline Yu Ting Wang Mar ília Scliar Frederico Monfardini Elaine Cristina Zachi Naila C. V. Louren ço Ada J. S. Chan Sergio L. Pereira Worrawat Engchuan Bhooma Thiruv Source Type: research
Consanguineous couples’ experiences and views regarding expanded carrier screening: Barriers and facilitators in the decision-making process
European Journal of Human Genetics, Published online: 06 June 2023; doi:10.1038/s41431-023-01402-zConsanguineous couples’ experiences and views regarding expanded carrier screening: Barriers and facilitators in the decision-making process (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 6, 2023 Category: Genetics & Stem Cells Authors: Sanne van der Hout Anke J. Woudstra Wybo Dondorp Suzanne Sallevelt Christine de Die-Smulders Aimee D. C. Paulussen Guido de Wert Source Type: research
Direct notification by health professionals of relatives at-risk of genetic conditions (with patient consent): views of the Australian public
European Journal of Human Genetics, Published online: 06 June 2023; doi:10.1038/s41431-023-01395-9Direct notification by health professionals of relatives at-risk of genetic conditions (with patient consent): views of the Australian public (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 6, 2023 Category: Genetics & Stem Cells Authors: Jane M. Tiller Ami Stott Keri Finlay Tiffany Boughtwood Evanthia O. Madelli Ari Horton Ingrid Winship Kristen Nowak Margaret Otlowski Source Type: research
The next step toward personalized recommendations for genetic cardiomyopathies
European Journal of Human Genetics, Published online: 06 June 2023; doi:10.1038/s41431-023-01394-wThe next step toward personalized recommendations for genetic cardiomyopathies (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 6, 2023 Category: Genetics & Stem Cells Authors: Sophie L. V. M. Stroeks Job A. J. Verdonschot Source Type: research
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
European Journal of Human Genetics, Published online: 05 June 2023; doi:10.1038/s41431-023-01392-yGustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 5, 2023 Category: Genetics & Stem Cells Authors: Josefin Johansson Sarah Lid éus Carina Frykholm Cecilia Gunnarsson Filip Mihalic Sanna Gudmundsson Sara Ekvall Anna-Maja Molin Mai Pham Mauno Vihinen Kristina Lagerstedt-Robinson Ann Nordgren Per Jemth Adam Ameur G öran Annerén Maria Wilbe Marie-Louise Source Type: research
The complex genomics of single gene disorders
European Journal of Human Genetics, Published online: 05 June 2023; doi:10.1038/s41431-023-01386-wUsing genomic technologies we are beginning to identify some of the mechanisms underlying clinical variability in single gene disorders. (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 5, 2023 Category: Genetics & Stem Cells Authors: Alisdair McNeill Source Type: research
The future is mainstream: genetic counselling should be embedded in mainstream medicine
European Journal of Human Genetics, Published online: 01 June 2023; doi:10.1038/s41431-023-01393-xThe future is mainstream: genetic counselling should be embedded in mainstream medicine (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 1, 2023 Category: Genetics & Stem Cells Authors: Ellie Quinn Source Type: research
Comment on: “The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome” by Nielsen-Dandoroff et al.
European Journal of Human Genetics, Published online: 30 May 2023; doi:10.1038/s41431-023-01397-7Comment on: “The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome” by Nielsen-Dandoroff et al. (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 30, 2023 Category: Genetics & Stem Cells Authors: Annalisa Vetro Source Type: research
