Genome-wide meta-analysis identifies novel loci conferring risk of acne vulgaris
European Journal of Human Genetics, Published online: 16 March 2023; doi:10.1038/s41431-023-01326-8Genome-wide meta-analysis identifies novel loci conferring risk of acne vulgaris (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 16, 2023 Category: Genetics & Stem Cells Authors: Maris Teder-Laving Mart Kals Anu Reigo Riin Ehin Telver Obj ärtel Mariliis Vaht Tiit Nikopensius Andres Metspalu K ülli Kingo Source Type: research

Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience
European Journal of Human Genetics, Published online: 16 March 2023; doi:10.1038/s41431-023-01331-xExome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 16, 2023 Category: Genetics & Stem Cells Authors: Korbinian M. Riedhammer Jasmina Ćomić Velibor Tasic Jovana Putnik Nora Abazi-Emini Aleksandra Paripovic Natasa Stajic Thomas Meitinger Valbona Nushi-Stavileci Riccardo Berutti Matthias C. Braunisch Julia Hoefele Source Type: research

Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990–2021
European Journal of Human Genetics, Published online: 16 March 2023; doi:10.1038/s41431-023-01330-yDown syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990–2021 (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 16, 2023 Category: Genetics & Stem Cells Authors: Henry C. Wilmot Gert de Graaf Pieter van Casteren Frank Buckley Brian G. Skotko Source Type: research

Two sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicism
European Journal of Human Genetics, Published online: 15 March 2023; doi:10.1038/s41431-023-01316-wTwo sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicism (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 15, 2023 Category: Genetics & Stem Cells Authors: Yasuhiko Asahina Umi Tahara Satomi Aoki Kazuhiko Nakabayashi Chiharu Tateishi Daisuke Hayashi Masayuki Amagai Daisuke Tsuruta Akiharu Kubo Source Type: research

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
European Journal of Human Genetics, Published online: 06 March 2023; doi:10.1038/s41431-023-01324-wSkewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 6, 2023 Category: Genetics & Stem Cells Authors: Chiara Giovenino Slavica Trajkova Lisa Pavinato Simona Cardaropoli Verdiana Pullano Enza Ferrero Elena Sukarova-Angelovska Silvia Carestiato Paola Salmin Antonina Rinninella Anthony Battaglia Luca Bertoli Antonio Fadda Flavia Palermo Diana Carli Alessandr Source Type: research

Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity
European Journal of Human Genetics, Published online: 03 March 2023; doi:10.1038/s41431-023-01321-zEvaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 3, 2023 Category: Genetics & Stem Cells Authors: Tatiane Yanes Anna Sullivan Pasquale Barbaro Kristian Brion Georgina Hollway Jane Peake Peter McNaughton Source Type: research

Genes=disease (?)
European Journal of Human Genetics, Published online: 03 March 2023; doi:10.1038/s41431-023-01314-yGenes=disease (?) (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 3, 2023 Category: Genetics & Stem Cells Authors: Alisdair McNeill Source Type: research

Genome sequencing-based discovery of a novel deep intronic APC pathogenic variant causing exonization
European Journal of Human Genetics, Published online: 24 February 2023; doi:10.1038/s41431-023-01322-yGenome sequencing-based discovery of a novel deep intronic APC pathogenic variant causing exonization (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 24, 2023 Category: Genetics & Stem Cells Authors: Anik ó Bozsik Henriett Butz Vince Korn él Grolmusz Csaba Polg ár Attila Pat ócs J ános Papp Source Type: research

Loss of function of ADNP by an intragenic inversion
European Journal of Human Genetics, Published online: 24 February 2023; doi:10.1038/s41431-023-01323-xLoss of function of ADNP by an intragenic inversion (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 24, 2023 Category: Genetics & Stem Cells Authors: Mathieu Georget Elodie Lejeune Julien Buratti Euphrasie Servant Eric le Guern Delphine Heron Boris Keren Jean-Madeleine de Sainte Agathe Source Type: research

KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease
European Journal of Human Genetics, Published online: 20 February 2023; doi:10.1038/s41431-023-01296-xKidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 20, 2023 Category: Genetics & Stem Cells Authors: Floranne Boulogne Laura R. Claus Henry Wiersma Roy Oelen Floor Schukking Niek de Klein Shuang Li Harm-Jan Westra Bert van der Zwaag Franka van Reekum Dana Sierks Ria Sch önauer Zhigui Li Emilia K. Bijlsma Willem Jan W. Bos Jan Halbritter Nine V. A. M. Kn Source Type: research

Perceived benefits and barriers to implementing precision preventive care: Results of a national physician survey
European Journal of Human Genetics, Published online: 20 February 2023; doi:10.1038/s41431-023-01318-8Perceived benefits and barriers to implementing precision preventive care: Results of a national physician survey (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 20, 2023 Category: Genetics & Stem Cells Authors: Jason L. Vassy Benjamin J. Kerman Elizabeth J. Harris Amy A. Lemke Marla L. Clayman Ashley A. Antwi Katharine MacIsaac Thomas Yi Charles A. Brunette Source Type: research

A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans
European Journal of Human Genetics, Published online: 17 February 2023; doi:10.1038/s41431-023-01319-7A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 17, 2023 Category: Genetics & Stem Cells Authors: Humera Manzoor Hafsa Zahid Christopher A. Emerling Kishore R. Kumar Hafiz Muhammad Jafar Hussain Go Hun Seo Muhammad Wajid Sadaf Naz Source Type: research

Identification of a DNA methylation signature for renpenning syndrome (RENS1), a spliceopathy
European Journal of Human Genetics, Published online: 16 February 2023; doi:10.1038/s41431-023-01313-zIdentification of a DNA methylation signature for renpenning syndrome (RENS1), a spliceopathy (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 16, 2023 Category: Genetics & Stem Cells Authors: Sadegheh Haghshenas Aidin Foroutan Pratibha Bhai Michael A. Levy Raissa Relator Jennifer Kerkhof Haley McConkey Cindy D. Skinner Raymond C. Caylor Matthew L. Tedder Roger E. Stevenson Bekim Sadikovic Charles E. Schwartz Source Type: research

CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories
European Journal of Human Genetics, Published online: 16 February 2023; doi:10.1038/s41431-023-01305-zCHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 16, 2023 Category: Genetics & Stem Cells Authors: Simona Amenta Giuseppe Marangi Daniela Orteschi Silvia Frangella Fiorella Gurrieri Elisa Paccagnella Annalaura Torella Gerarda Cappuccio Francesco Musacchia Margherita Mutarelli Diego Carrella Giuseppina Vitiello Giancarlo Parenti Vincenzo Leuzzi Angelo S Source Type: research

Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing
European Journal of Human Genetics, Published online: 16 February 2023; doi:10.1038/s41431-023-01284-1Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 16, 2023 Category: Genetics & Stem Cells Authors: Katherine Dixon Yaoqing Shen Kieran O ’Neill Karen L. Mungall Simon Chan Steve Bilobram Wei Zhang Marjorie Bezeau Alshanee Sharma Alexandra Fok Andrew J. Mungall Richard Moore Ian Bosdet My Linh Thibodeau Sophie Sun Stephen Yip Kasmintan A. Schrader Ste Source Type: research