Pathogenic variants of meiotic double strand break (DSB) formation genes PRDM9 and ANKRD31 in premature ovarian insufficiency
Genetics in Medicine, Published online: 13 July 2021; doi:10.1038/s41436-021-01266-yPathogenic variants of meiotic double strand break (DSB) formation genes PRDM9 and ANKRD31 in premature ovarian insufficiency (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 13, 2021 Category: Genetics & Stem Cells Authors: Yiyang Wang Ting Guo Hanni Ke Qian Zhang Shan Li Wei Luo Yingying Qin Source Type: research
Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study
Genetics in Medicine, Published online: 13 July 2021; doi:10.1038/s41436-021-01259-xSafety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 13, 2021 Category: Genetics & Stem Cells Authors: Nuria Carrillo May C. Malicdan Petcharat Leoyklang Joseph A. Shrader Galen Joe Christina Slota John Perreault John D. Heiss Bradley Class Chia-Ying Liu Kennan Bradley Colleen Jodarski Carla Ciccone Claire Driscoll Rebecca Parks Scott Van Wart Levent Bayma Source Type: research
Neptune: an environment for the delivery of genomic medicine
Genetics in Medicine, Published online: 13 July 2021; doi:10.1038/s41436-021-01230-wNeptune: an environment for the delivery of genomic medicine (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 13, 2021 Category: Genetics & Stem Cells Authors: Venner Eric Victoria Yi David Murdock Sara E. Kalla Tsung-Jung Wu Aniko Sabo Shoudong Li Qingchang Meng Xia Tian Mullai Murugan Michelle Cohen Christie Kovar Wei-Qi Wei Wendy K. Chung Chunhua Weng Georgia L. Wiesner Gail P. Jarvik Donna Muzny Richard A. G Source Type: research
Increased risk for dementia in neurofibromatosis type 1
Genetics in Medicine, Published online: 13 July 2021; doi:10.1038/s41436-021-01261-3Increased risk for dementia in neurofibromatosis type 1 (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 13, 2021 Category: Genetics & Stem Cells Authors: Roope A. Kallionp ää Mikko Valtanen Kari Auranen Elina Uusitalo Juha O. Rinne Sirkku Peltonen Juha Peltonen Source Type: research
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
Genetics in Medicine, Published online: 13 July 2021; doi:10.1038/s41436-021-01217-7Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 13, 2021 Category: Genetics & Stem Cells Authors: Virginie Carmignac Cyril Mignot Emmanuelle Blanchard Paul Kuentz Marie-H élène Aubriot-Lorton Victoria E. R. Parker Arthur Sorlin Sylvie Fraitag Jean-Beno ît Courcet Yannis Duffourd Diana Rodriguez Rachel G. Knox Satyamaanasa Polubothu Anne Boland Robe Source Type: research
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
Genetics in Medicine, Published online: 09 July 2021; doi:10.1038/s41436-021-01260-4Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 9, 2021 Category: Genetics & Stem Cells Authors: Maria Iqbal Reza Maroofian B üşranur Çavdarlı Florence Riccardi Michael Field Siddharth Banka Dalal K. Bubshait Yun Li Jozef Hertecant Shahid Mahmood Baig David Dyment Stephanie Efthymiou Uzma Abdullah Ehtisham Ul Haq Makhdoom Zafar Ali Tobias Scherf Source Type: research
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families
Genetics in Medicine, Published online: 07 July 2021; doi:10.1038/s41436-021-01250-6High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 7, 2021 Category: Genetics & Stem Cells Authors: Mehdi Benkirane Cecilia Marelli Claire Guissart Agathe Roubertie Elizabeth Ollagnon Ariane Choumert Fr édérique Fluchère Fabienne Ory Magne Yosra Halleb Mathilde Renaud Lise Larrieu David Baux Olivier Patat Idriss Bousquet Jean-Marie Ravel Danielle Cun Source Type: research
Disclosure of genetic information to family members: a systematic review of normative documents
Genetics in Medicine, Published online: 07 July 2021; doi:10.1038/s41436-021-01248-0Disclosure of genetic information to family members: a systematic review of normative documents (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 7, 2021 Category: Genetics & Stem Cells Authors: Amicia Phillips Pascal Borry Ine Van Hoyweghen Danya F. Vears Source Type: research
Ethical challenges for a new generation of early-phase pediatric gene therapy trials
Genetics in Medicine, Published online: 07 July 2021; doi:10.1038/s41436-021-01245-3Ethical challenges for a new generation of early-phase pediatric gene therapy trials (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 7, 2021 Category: Genetics & Stem Cells Authors: Alexander A. Iyer Dimah Saade Diana Bharucha-Goebel A. Reghan Foley Gilberto ‘Mike’ Averion Eduardo Paredes Steven Gray Carsten G. B önnemann Christine Grady Saskia Hendriks Annette Rid Source Type: research
Response to Resta et al.
Genetics in Medicine, Published online: 07 July 2021; doi:10.1038/s41436-021-01257-zResponse to Resta et al. (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 7, 2021 Category: Genetics & Stem Cells Authors: Virginie Carmignac Pierre Vabres Source Type: research
Correspondence on “Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities,” by Carmignac et al.
Genetics in Medicine, Published online: 07 July 2021; doi:10.1038/s41436-021-01256-0Correspondence on “Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities,” by Carmignac et al. (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 7, 2021 Category: Genetics & Stem Cells Authors: Nicoletta Resta Olga Calabrese Valentina Grossi Licia Lugli Cristiano Simone Carlotta Ranieri Marilidia Piglionica Martina Lepore Signorile Katia Rossi Diana Carli Alessandro Mussa Source Type: research
Correction to: Cardiovascular risk factors and body composition in adults with achondroplasia
Genetics in Medicine, Published online: 07 July 2021; doi:10.1038/s41436-021-01201-1Correction to: Cardiovascular risk factors and body composition in adults with achondroplasia (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 7, 2021 Category: Genetics & Stem Cells Authors: Svein O. Fredwall Jennifer Linge Olof Dahlqvist Leinhard Lisa Kj ønigsen Heidi Beate Eggesb ø Harald Weedon-Fekj ær Ingeborg Beate Lidal Grethe M ånum Ravi Savarirayan Serena Tonstad Source Type: research
InpherNet accelerates monogenic disease diagnosis using patients’ candidate genes’ neighbors
Genetics in Medicine, Published online: 06 July 2021; doi:10.1038/s41436-021-01238-2InpherNet accelerates monogenic disease diagnosis using patients’ candidate genes’ neighbors (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 6, 2021 Category: Genetics & Stem Cells Authors: Boyoung Yoo Johannes Birgmeier Jonathan A. Bernstein Gill Bejerano Source Type: research
A qualitative study of prevalent laboratory information systems and data communication patterns for genetic test reporting
Genetics in Medicine, Published online: 06 July 2021; doi:10.1038/s41436-021-01251-5A qualitative study of prevalent laboratory information systems and data communication patterns for genetic test reporting (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 6, 2021 Category: Genetics & Stem Cells Authors: Aly Khalifa Clinton C. Mason Jennifer Hornung Garvin Marc S. Williams Guilherme Del Fiol Brian R. Jackson Steven B. Bleyl Stanley M. Huff Source Type: research
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes
Genetics in Medicine, Published online: 06 July 2021; doi:10.1038/s41436-021-01265-zClinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes (Source: Genetics in Medicine)
Source: Genetics in Medicine - July 6, 2021 Category: Genetics & Stem Cells Authors: C. Cubuk A. Garrett S. Choi L. King C. Loveday B. Torr G. J. Burghel M. Durkie A. Callaway R. Robinson J. Drummond I. Berry A. Wallace D. Eccles M. Tischkowitz N. Whiffin J. S. Ware H. Hanson C. Turnbull CanVIG-UK Source Type: research
