Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation
European Journal of Human Genetics, Published online: 08 June 2021; doi:10.1038/s41431-021-00916-8Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 8, 2021 Category: Genetics & Stem Cells Authors: You Wu Shanti Balasubramaniam Rocio Rius David R. Thorburn John Christodoulou Ilias Goranitis Source Type: research

PRICKLE2 revisited—further evidence implicating PRICKLE2 in neurodevelopmental disorders
European Journal of Human Genetics, Published online: 07 June 2021; doi:10.1038/s41431-021-00912-yPRICKLE2 revisited—further evidence implicating PRICKLE2 in neurodevelopmental disorders (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 7, 2021 Category: Genetics & Stem Cells Authors: Allan Bayat Sumaiya Iqbal Kim Borredy Jeanne Amiel Christiane Zweier Guilia Barcia Cornelia Kraus Heike Weyhreter Alexander G. Bassuk Maya Chopra Guido Rubboli Rikke S. M øller Source Type: research

Contribution of common risk variants to multiple sclerosis in Orkney and Shetland
European Journal of Human Genetics, Published online: 04 June 2021; doi:10.1038/s41431-021-00914-wContribution of common risk variants to multiple sclerosis in Orkney and Shetland (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 4, 2021 Category: Genetics & Stem Cells Authors: Catriona L. K. Barnes Caroline Hayward David J. Porteous Harry Campbell Peter K. Joshi James F. Wilson Source Type: research

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
European Journal of Human Genetics, Published online: 01 June 2021; doi:10.1038/s41431-021-00852-7Solving patients with rare diseases through programmatic reanalysis of genome-phenome data (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 1, 2021 Category: Genetics & Stem Cells Authors: Leslie Matalonga Carles Hernandez-Ferrer Davide Piscia Rebecca Sch üle Matthis Synofzik Ana T öpf Lisenka E. L. M. Vissers Richarda de Voer Raul Tonda Steven Laurie Marcos Fernandez-Callejo Daniel Pic ó Carles Garcia-Linares Anastasios Papakonstantinou Source Type: research

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
European Journal of Human Genetics, Published online: 01 June 2021; doi:10.1038/s41431-021-00859-0Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 1, 2021 Category: Genetics & Stem Cells Authors: Birte Zurek Kornelia Ellwanger Lisenka E. L. M. Vissers Rebecca Sch üle Matthis Synofzik Ana T öpf Richarda M. de Voer Steven Laurie Leslie Matalonga Christian Gilissen Stephan Ossowski Peter A. C. ’t Hoen Antonio Vitobello Julia M. Schulze-Hentrich O Source Type: research

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
European Journal of Human Genetics, Published online: 01 June 2021; doi:10.1038/s41431-021-00851-8Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1) (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 1, 2021 Category: Genetics & Stem Cells Authors: Ana T öpf Angela Pyle Helen Griffin Leslie Matalonga Katherine Schon Enzo Cohen Isabel Cuesta Daniel Danis Anne-Sophie Denomm é-Pichon Yannis Duffourd Christian Gilissen Mridul Johari Steven Laurie Shuang Li Isabelle Nelson Ida Paramonov Sophia Peters S Source Type: research

A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report
European Journal of Human Genetics, Published online: 01 June 2021; doi:10.1038/s41431-021-00853-6A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 1, 2021 Category: Genetics & Stem Cells Authors: Iris B. A. W. te Paske Jos é Garcia-Pelaez Anna K. Sommer Leslie Matalonga Teresa Starzynska Anna Jakubowska Laura Valle Gabriel Capella Stefan Aretz Elke Holinski-Feder Verena Steinke-Lange Andreas Laner Evelin Schr öck Andreas Rump Marjolijn Ligtenber Source Type: research

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
European Journal of Human Genetics, Published online: 01 June 2021; doi:10.1038/s41431-021-00900-2A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - June 1, 2021 Category: Genetics & Stem Cells Authors: Elke de Boer Charlotte W. Ockeloen Leslie Matalonga Rita Horvath Richard J. Rodenburg Marieke J. H. Coenen Mirian Janssen Dylan Henssen Christian Gilissen Wouter Steyaert Ida Paramonov Aur élien Trimouille Tjitske Kleefstra Alain Verloes Lisenka E. L. M. Source Type: research

Correction to: First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery
European Journal of Human Genetics, Published online: 28 May 2021; doi:10.1038/s41431-021-00909-7Correction to: First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 28, 2021 Category: Genetics & Stem Cells Authors: Holger Hengel Rebecca Buchert Marc Sturm Tobias B. Haack Yvonne Schelling Muhammad Mahajnah Rajech Sharkia Abdussalam Azem Ghassan Balousha Zaid Ghanem Mohammed Falana Osama Balousha Suhail Ayesh Reinhard Keimer Werner Deigendesch Jimmy Zaidan Hiyam Marzo Source Type: research

Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA
European Journal of Human Genetics, Published online: 27 May 2021; doi:10.1038/s41431-021-00907-9Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 27, 2021 Category: Genetics & Stem Cells Authors: Cenna Doornbos Ronald van Beek Ernie M. H. F. Bongers Dorien Lugtenberg Peter. H. M. Klaren Lisenka E. L. M. Vissers Ronald Roepman Machteld M. Oud Source Type: research

Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data
European Journal of Human Genetics, Published online: 24 May 2021; doi:10.1038/s41431-021-00908-8Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 24, 2021 Category: Genetics & Stem Cells Authors: David Lewis-Smith Shiva Ganesan Peter D. Galer Katherine L. Helbig Sarah E. McKeown Margaret O ’Brien Pouya Khankhanian Michael C. Kaufman Alexander K. Gonzalez Alex S. Felmeister Roland Krause Colin A. Ellis Ingo Helbig Source Type: research

Stakeholder engagement to ensure the sustainability of biobanks: a survey of potential users of biobank services
European Journal of Human Genetics, Published online: 24 May 2021; doi:10.1038/s41431-021-00905-xStakeholder engagement to ensure the sustainability of biobanks: a survey of potential users of biobank services (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 24, 2021 Category: Genetics & Stem Cells Authors: Corinna Klingler Magdal éna von Jagwitz-Biegnitz Ronny Baber Karl-Friedrich Becker Edgar Dahl Cornelius Eibner J örg Fuchs Maike K. Groenewold Mara Lena Hartung Michael Hummel Roland Jahns Romy Kirsten Verena Kopfnagel Regina Maushagen Sara Yasemin Nuss Source Type: research

Clinical utility gene card for: Long-QT syndrome
European Journal of Human Genetics, Published online: 24 May 2021; doi:10.1038/s41431-021-00904-yClinical utility gene card for: Long-QT syndrome (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 24, 2021 Category: Genetics & Stem Cells Authors: Britt M. Beckmann Stefanie Scheiper-Welling Arthur A. M. Wilde Stefan K ääb Eric Schulze-Bahr Silke Kauferstein Source Type: research

Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency
European Journal of Human Genetics, Published online: 20 May 2021; doi:10.1038/s41431-021-00887-wConsolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 20, 2021 Category: Genetics & Stem Cells Authors: Siying Lin James Fasham Fida ’ Al-Hijawi Nouar Qutob Adam Gunning Joseph S. Leslie Lucy McGavin Nishanka Ubeyratna Wisam Baker Ramez Zeid Peter D. Turnpenny Andrew H. Crosby Emma L. Baple Reham Khalaf-Nazzal Source Type: research

Clinical genomics—but faster
European Journal of Human Genetics, Published online: 19 May 2021; doi:10.1038/s41431-021-00906-wClinical genomics—but faster (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 19, 2021 Category: Genetics & Stem Cells Authors: Alisdair McNeill Source Type: research

The genetic structure of Norway
European Journal of Human Genetics, Published online: 17 May 2021; doi:10.1038/s41431-021-00899-6The genetic structure of Norway (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 17, 2021 Category: Genetics & Stem Cells Authors: Morten Mattingsdal S. Sunna Ebenesersd óttir Kristjan H. S. Moore Ole A. Andreassen Thomas F. Hansen Thomas Werge Ingrid Kockum Tomas Olsson Lars Alfredsson Agnar Helgason K ári Stefánsson Eivind Hovig Source Type: research

Stepwise ABC system for classification of any type of genetic variant
European Journal of Human Genetics, Published online: 13 May 2021; doi:10.1038/s41431-021-00903-zStepwise ABC system for classification of any type of genetic variant (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 13, 2021 Category: Genetics & Stem Cells Authors: Gunnar Houge Andreas Laner Sebahattin Cirak Nicole de Leeuw Hans Scheffer Johan T. den Dunnen Source Type: research

Balancing scientific interests and the rights of participants in designing a recall by genotype study
European Journal of Human Genetics, Published online: 13 May 2021; doi:10.1038/s41431-021-00860-7Balancing scientific interests and the rights of participants in designing a recall by genotype study (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 13, 2021 Category: Genetics & Stem Cells Authors: Deborah Mascalzoni Roberta Biasiotto Max Borsche Norbert Br üggemann Alessandro De Grandi Martin Goegele Sara Frygner-Holm Christine Klein Maria K östers Ciara Staunton Peter P. Pramstaller Michael Krawczak Andrew A. Hicks Source Type: research

Solving unsolved rare neurological diseases—a Solve-RD viewpoint
European Journal of Human Genetics, Published online: 10 May 2021; doi:10.1038/s41431-021-00901-1Solving unsolved rare neurological diseases—a Solve-RD viewpoint (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 10, 2021 Category: Genetics & Stem Cells Authors: Rebecca Sch üle Dagmar Timmann Corrie E. Erasmus Jennifer Reichbauer Melanie Wayand Bart van de Warrenburg Ludger Sch öls Carlo Wilke Andrea Bevot Stephan Zuchner Sergi Beltran Steven Laurie Leslie Matalonga Holm Graessner Matthis Synofzik Source Type: research

Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia
European Journal of Human Genetics, Published online: 09 May 2021; doi:10.1038/s41431-021-00902-0Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 9, 2021 Category: Genetics & Stem Cells Authors: Emma M. Wade Padmini Parthasarathy Jingyi Mi Tim Morgan Bernd Wollnik Stephen P. Robertson Tim Cundy Source Type: research

Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes
European Journal of Human Genetics, Published online: 07 May 2021; doi:10.1038/s41431-021-00897-8Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 7, 2021 Category: Genetics & Stem Cells Authors: Anne-Mai Ilum äe Helen Post Rodrigo Flores Monika Karmin Hovhannes Sahakyan Mayukh Mondal Francesco Montinaro Lauri Saag Concetta Bormans Luisa Fernanda Sanchez Adam Ameur Ulf Gyllensten Mart Kals Reedik M ägi Luca Pagani Doron M. Behar Siiri Rootsi Ric Source Type: research

Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss
European Journal of Human Genetics, Published online: 06 May 2021; doi:10.1038/s41431-021-00891-0Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 6, 2021 Category: Genetics & Stem Cells Authors: Andr é S. Bueno Kelly Nunes Alex M. M. Dias Leandro U. Alves Beatriz C. A. Mendes Juliana Sampaio-Silva Jeroen Smits Helger G. Yntema Diogo Meyer Karina Lezirovitz Regina C. Mingroni-Netto Source Type: research

International transfers of personal data for health research following Schrems II: a problem in need of a solution
European Journal of Human Genetics, Published online: 06 May 2021; doi:10.1038/s41431-021-00893-yInternational transfers of personal data for health research following Schrems II: a problem in need of a solution (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 6, 2021 Category: Genetics & Stem Cells Authors: Dara Hallinan Alexander Bernier Anne Cambon-Thomsen Francis P. Crawley Diana Dimitrova Claudia Bauzer Medeiros Gustav Nilsonne Simon Parker Brian Pickering St éphanie Rennes Source Type: research

Evidence of mosaicism in SPAST variant carriers in four French families
European Journal of Human Genetics, Published online: 06 May 2021; doi:10.1038/s41431-021-00847-4Evidence of mosaicism in SPAST variant carriers in four French families (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 6, 2021 Category: Genetics & Stem Cells Authors: Chlo é Angelini Cyril Goizet Samia Ait Said William Camu Christel Depienne B énédicte Heron Bophara Kol Marine Guillaud-Bataille Perrine Pennamen Caroline Rooryck Clarisse Scherer-Gagou Laur ène Tissier Giovanni Stevanin Eric Leguern Guillaume Banneau Source Type: research

Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C
European Journal of Human Genetics, Published online: 06 May 2021; doi:10.1038/s41431-021-00898-7Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 6, 2021 Category: Genetics & Stem Cells Authors: Igor Bychkov Alexandra Filatova Grigory Perelman Tatiana Proshlyakova Daria Korotkova Sergey Klyushnikov Maria Karpova Vyacheslav Tabakov Galina Baydakova Alexandra Ilyushkina Mikhail Skoblov Ekaterina Zakharova Source Type: research

Out now in May’s EJHG
European Journal of Human Genetics, Published online: 02 May 2021; doi:10.1038/s41431-021-00896-9Out now in May’s EJHG (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - May 2, 2021 Category: Genetics & Stem Cells Authors: Alisdair McNeill Source Type: research

How do non-geneticist physicians deal with genetic tests? A qualitative analysis
European Journal of Human Genetics, Published online: 28 April 2021; doi:10.1038/s41431-021-00884-zHow do non-geneticist physicians deal with genetic tests? A qualitative analysis (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 28, 2021 Category: Genetics & Stem Cells Authors: Laurent Pasquier Guy Minguet Sylvie Moisdon-Chataigner Pascal Jarno Philippe Denizeau Ginette Volf Sylvie Odent Gr égoire Moutel Source Type: research

Speech and language deficits are central to SETBP1 haploinsufficiency disorder
European Journal of Human Genetics, Published online: 27 April 2021; doi:10.1038/s41431-021-00894-xSpeech and language deficits are central to SETBP1 haploinsufficiency disorder (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 27, 2021 Category: Genetics & Stem Cells Authors: Angela Morgan Ruth Braden Maggie M. K. Wong Estelle Colin David Amor Frederique Li égeois Siddharth Srivastava Adam Vogel Varoona Bizaoui Kara Ranguin Simon E. Fisher Bregje W. van Bon Source Type: research

Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia
European Journal of Human Genetics, Published online: 27 April 2021; doi:10.1038/s41431-021-00885-yPolygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 27, 2021 Category: Genetics & Stem Cells Authors: Restuadi Restuadi Fleur C. Garton Beben Benyamin Tian Lin Kelly L. Williams Anna Vinkhuyzen Wouter van Rheenen Zhihong Zhu Nigel G. Laing Karen A. Mather Perminder S. Sachdev Shyuan T. Ngo Frederik J. Steyn Leanne Wallace Anjali K. Henders Peter M. Vissch Source Type: research

Correction to: Resolving pathogenicity classification for the CDH1 c.[715G>A] (p.Gly239Arg) variant
European Journal of Human Genetics, Published online: 27 April 2021; doi:10.1038/s41431-021-00895-wCorrection to: Resolving pathogenicity classification for the CDH1 c.[715G>A] (p.Gly239Arg) variant (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 27, 2021 Category: Genetics & Stem Cells Authors: Zarina Yelskaya Angela G. Arnold Vanessa J. Marcell Laura H. Tang Erin E. Salo-Mullen Vivian E. Strong Zsofia K. Stadler Liying Zhang Source Type: research

Toward the diagnosis of rare childhood genetic diseases: what do parents value most?
European Journal of Human Genetics, Published online: 26 April 2021; doi:10.1038/s41431-021-00882-1Toward the diagnosis of rare childhood genetic diseases: what do parents value most? (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 26, 2021 Category: Genetics & Stem Cells Authors: Samantha Pollard Deirdre Weymann Jessica Dunne Fatemeh Mayanloo John Buckell James Buchanan Sarah Wordsworth Jan M. Friedman Sylvia Stockler-Ipsiroglu Nick Dragojlovic Alison E. Elliott Mark Harrison Larry D. Lynd Dean A. Regier Source Type: research

Identifying challenges in neurofibromatosis: a modified Delphi procedure
European Journal of Human Genetics, Published online: 26 April 2021; doi:10.1038/s41431-021-00892-zIdentifying challenges in neurofibromatosis: a modified Delphi procedure (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 26, 2021 Category: Genetics & Stem Cells Authors: Britt A. E. Dhaenens Rosalie E. Ferner Annette Bakker Marco Nievo D. Gareth Evans Pierre Wolkenstein Cornelia Potratz Scott R. Plotkin Guenter Heimann Eric Legius Rianne Oostenbrink Source Type: research

A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract
European Journal of Human Genetics, Published online: 19 April 2021; doi:10.1038/s41431-021-00889-8A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 19, 2021 Category: Genetics & Stem Cells Authors: Johanna L. Jones Mark A. Corbett Elise Yeaman Duran Zhao Jozef Gecz Robert J. Gasperini Jac C. Charlesworth David A. Mackey James E. Elder Jamie E. Craig Kathryn P. Burdon Source Type: research

Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms
European Journal of Human Genetics, Published online: 19 April 2021; doi:10.1038/s41431-021-00886-xGermline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 19, 2021 Category: Genetics & Stem Cells Authors: Hui Luo Dan Liu Wenbing Liu Gaoxiang Wang Liting Chen Yang Cao Jia Wei Min Xiao Xin Liu Gang Huang Wei Wang Jianfeng Zhou Qian-fei Wang Source Type: research

Clinical delineation of SETBP1 haploinsufficiency disorder
European Journal of Human Genetics, Published online: 19 April 2021; doi:10.1038/s41431-021-00888-9Clinical delineation of SETBP1 haploinsufficiency disorder (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 19, 2021 Category: Genetics & Stem Cells Authors: Nadieh A. Jansen Ruth O. Braden Siddharth Srivastava Erin F. Otness Gaetan Lesca Massimiliano Rossi Mathilde Nizon Raphael A. Bernier Chlo é Quelin Arie van Haeringen Tjitske Kleefstra Maggie M. K. Wong Sandra Whalen Simon E. Fisher Angela T. Morgan Breg Source Type: research

Patient-reported anticipated barriers and benefits to sharing cancer genetic risk information with family members
European Journal of Human Genetics, Published online: 19 April 2021; doi:10.1038/s41431-021-00890-1Patient-reported anticipated barriers and benefits to sharing cancer genetic risk information with family members (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 19, 2021 Category: Genetics & Stem Cells Authors: Kelsey Stuttgen Finn Joel Pacyna Cindy Azevedo Tsou N. Jewel Samadder Richard Sharp Source Type: research

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
European Journal of Human Genetics, Published online: 15 April 2021; doi:10.1038/s41431-021-00858-1Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 15, 2021 Category: Genetics & Stem Cells Authors: Judy Savige Helen Storey Elizabeth Watson Jens Michael Hertz Constantinos Deltas Alessandra Renieri Francesca Mari Pascale Hilbert Pavlina Plevova Peter Byers Agne Cerkauskaite Martin Gregory Rimante Cerkauskiene Danica Galesic Ljubanovic Francesca Becher Source Type: research

Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2
European Journal of Human Genetics, Published online: 15 April 2021; doi:10.1038/s41431-021-00862-5Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2 (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 15, 2021 Category: Genetics & Stem Cells Authors: James Whitworth Ruth T. Casey Philip S. Smith Olivier Giger Jose Ezequiel Martin Graeme Clark Jaqueline Cook Marlee S. Fernando Phillipe Taniere Eamonn R. Maher Source Type: research

Moving somatic gene editing to the clinic: routes to market access and reimbursement in Europe
European Journal of Human Genetics, Published online: 14 April 2021; doi:10.1038/s41431-021-00877-yMoving somatic gene editing to the clinic: routes to market access and reimbursement in Europe (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 14, 2021 Category: Genetics & Stem Cells Authors: Tessel Rigter David Klein Stephanie S. Weinreich Martina C. Cornel Source Type: research

Genetic drift from the out-of-Africa bottleneck leads to biased estimation of genetic architecture and selection
European Journal of Human Genetics, Published online: 13 April 2021; doi:10.1038/s41431-021-00873-2Genetic drift from the out-of-Africa bottleneck leads to biased estimation of genetic architecture and selection (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 13, 2021 Category: Genetics & Stem Cells Authors: Bilal Ashraf Daniel John Lawson Source Type: research

What people really change after genetic testing (GT) performed in private labs: results from an Italian study
European Journal of Human Genetics, Published online: 12 April 2021; doi:10.1038/s41431-021-00879-wWhat people really change after genetic testing (GT) performed in private labs: results from an Italian study (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 12, 2021 Category: Genetics & Stem Cells Authors: Serena Oliveri Clizia Cincidda Giulia Ongaro Ilaria Cutica Alessandra Gorini Francesca Spinella Francesco Fiorentino Marina Baldi Gabriella Pravettoni Source Type: research

Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer
European Journal of Human Genetics, Published online: 12 April 2021; doi:10.1038/s41431-021-00878-xComprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 12, 2021 Category: Genetics & Stem Cells Authors: Rabea Wagener Julia Taeubner Carolin Walter Layal Yasin Deya Alzoubi Christoph Bartenhagen Andishe Attarbaschi Carl-Friedrich Classen Udo Kontny Julia Hauer Ute Fischer Martin Dugas Michaela Kuhlen Arndt Borkhardt Triantafyllia Brozou Source Type: research

Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications
European Journal of Human Genetics, Published online: 12 April 2021; doi:10.1038/s41431-021-00881-2Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 12, 2021 Category: Genetics & Stem Cells Authors: Alexander O ’Brien Wen Yih Aw Hui Yi Tee Kaleb M. Naegeli Guney Bademci Mustafa Tekin Kathleen Arnos Arti Pandya Source Type: research

Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis
European Journal of Human Genetics, Published online: 12 April 2021; doi:10.1038/s41431-021-00883-0Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 12, 2021 Category: Genetics & Stem Cells Authors: Bryn D. Webb Hilary Hotchkiss Pankaj Prasun Bruce D. Gelb Lisa Satlin Source Type: research

Fine-scale population structure in five rural populations from the Spanish Eastern Pyrenees using high-coverage whole-genome sequence data
European Journal of Human Genetics, Published online: 09 April 2021; doi:10.1038/s41431-021-00875-0Fine-scale population structure in five rural populations from the Spanish Eastern Pyrenees using high-coverage whole-genome sequence data (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 9, 2021 Category: Genetics & Stem Cells Authors: Iago Maceda Miguel Mart ín Álvarez Georgios Athanasiadis Ra úl Tonda Jordi Camps Sergi Beltran Agust í Camps Jordi F àbrega Josefina Felisart Joan Gran é Jos é Luis Remón Jordi Serra Pedro Moral Oscar Lao Source Type: research

Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations
European Journal of Human Genetics, Published online: 09 April 2021; doi:10.1038/s41431-021-00880-3Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 9, 2021 Category: Genetics & Stem Cells Authors: Moran Hausman-Kedem Liat Ben-Sira Debora Kidron Shay Ben-Shachar Rachel Straussberg Daphna Marom Penina Ponger Anat Bar-Shira Gustavo Malinger Aviva Fattal-Valevski Source Type: research

What’s new in EJHG in April
European Journal of Human Genetics, Published online: 09 April 2021; doi:10.1038/s41431-021-00841-wWhat’s new in EJHG in April (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 9, 2021 Category: Genetics & Stem Cells Authors: Alisdair McNeill Source Type: research

Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population
European Journal of Human Genetics, Published online: 09 April 2021; doi:10.1038/s41431-021-00854-5Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 9, 2021 Category: Genetics & Stem Cells Authors: Olivier Gervais Kazuko Ueno Yosuke Kawai Yuki Hitomi Yoshihiro Aiba Mayumi Ueta Minoru Nakamura Katsushi Tokunaga Masao Nagasaki Source Type: research

Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras
European Journal of Human Genetics, Published online: 07 April 2021; doi:10.1038/s41431-021-00870-5Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimeras (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 7, 2021 Category: Genetics & Stem Cells Authors: Qizong Lao Deborah P. Merke Source Type: research

Reply to Lao Q and Merke DP
European Journal of Human Genetics, Published online: 07 April 2021; doi:10.1038/s41431-021-00869-yReply to Lao Q and Merke DP (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 7, 2021 Category: Genetics & Stem Cells Authors: Sabina Baumgartner-Parzer Martina Witsch-Baumgartner Wolfgang Hoeppner Source Type: research