Correction to: The Dutch Y-chromosomal landscape
European Journal of Human Genetics, Published online: 23 October 2019; doi:10.1038/s41431-019-0528-9Correction to: The Dutch Y-chromosomal landscape (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 23, 2019 Category: Genetics & Stem Cells Authors: Eveline Altena Risha Smeding Kristiaan J. van der Gaag Maarten H. D. Larmuseau Ronny Decorte Oscar Lao Manfred Kayser Thirsa Kraaijenbrink Peter de Knijff Source Type: research

Public reactions to direct-to-consumer genetic health tests: A comparison across the US, UK, Japan and Australia
European Journal of Human Genetics, Published online: 23 October 2019; doi:10.1038/s41431-019-0529-8Public reactions to direct-to-consumer genetic health tests: A comparison across the US, UK, Japan and Australia (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 23, 2019 Category: Genetics & Stem Cells Authors: Jan Charbonneau Dianne Nicol Don Chalmers Kazuto Kato Natsuko Yamamoto Jarrod Walshe Christine Critchley Source Type: research

The complexity of screening PMS2 in DNA isolated from formalin-fixed paraffin-embedded material
European Journal of Human Genetics, Published online: 15 October 2019; doi:10.1038/s41431-019-0527-xThe complexity of screening PMS2 in DNA isolated from formalin-fixed paraffin-embedded material (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 15, 2019 Category: Genetics & Stem Cells Authors: Anne M. L. Jansen Carli M. J. Tops Dina Ruano Ronald van Eijk Juul T. Wijnen Sanne ten Broeke Maartje Nielsen Frederik J. Hes Tom van Wezel Hans Morreau Source Type: research

ESHG PPPC Comments on postmortem use of genetic data for research purposes
European Journal of Human Genetics, Published online: 08 October 2019; doi:10.1038/s41431-019-0525-zESHG PPPC Comments on postmortem use of genetic data for research purposes (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 8, 2019 Category: Genetics & Stem Cells Authors: Florence Fellmann Emmanuelle Rial-Sebbag Christine Patch Sabine Hentze Vigdis Stefandottir Álvaro Mendes Carla G. van El Martina C. Cornel Francesca Forzano Source Type: research

Immunochip meta-analysis in European and Argentinian populations identifies two novel genetic loci associated with celiac disease
European Journal of Human Genetics, Published online: 07 October 2019; doi:10.1038/s41431-019-0520-4Immunochip meta-analysis in European and Argentinian populations identifies two novel genetic loci associated with celiac disease (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 7, 2019 Category: Genetics & Stem Cells Authors: Isis Rica ño-Ponce Javier Gutierrez-Achury Ana Florencia Costa Patrick Deelen Alexander Kurilshikov Maria Magdalena Zorro Mathieu Platteel Adriaan van der Graaf Emilia Sugai Mar ía L. Moreno Horacio V ázquez Elsa Barrientos Eduardo Mauri ño Martin Tal Source Type: research

Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster
European Journal of Human Genetics, Published online: 07 October 2019; doi:10.1038/s41431-019-0522-2Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 7, 2019 Category: Genetics & Stem Cells Authors: C édric Le Caignec Olivier Pichon Annaig Briand Beno ît de Courtivron Christian Bonnard Pierre Lindenbaum Richard Redon Caroline Schluth-Bolard Flavie Diguet Pierre-Antoine Rollat-Farnier Marta Sanchez-Castro Marie-Laure Vuillaume Damien Sanlaville Deni Source Type: research

Effect of non-normality and low count variants on cross-phenotype association tests in GWAS
European Journal of Human Genetics, Published online: 03 October 2019; doi:10.1038/s41431-019-0514-2Effect of non-normality and low count variants on cross-phenotype association tests in GWAS (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 3, 2019 Category: Genetics & Stem Cells Authors: Debashree Ray Nilanjan Chatterjee Source Type: research

Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families
European Journal of Human Genetics, Published online: 01 October 2019; doi:10.1038/s41431-019-0523-1Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 1, 2019 Category: Genetics & Stem Cells Authors: Yanqin Zhang Jie Ding Suxia Wang Hongwen Zhang Xuhui Zhong Xiaoyu Liu Ke Xu Fang Wang Source Type: research

GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why?
European Journal of Human Genetics, Published online: 30 September 2019; doi:10.1038/s41431-019-0516-0GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why? (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 30, 2019 Category: Genetics & Stem Cells Authors: Juliette Schuurmans Erwin Birnie Adelita V. Ranchor Kristin M. Abbott Angela Fenwick Anneke Lucassen Marjolein Y. Berger Marian Verkerk Irene M. van Langen Mirjam Plantinga Source Type: research

One byte at a time: evidencing the quality of clinical service next-generation sequencing for germline and somatic variants
European Journal of Human Genetics, Published online: 30 September 2019; doi:10.1038/s41431-019-0515-1One byte at a time: evidencing the quality of clinical service next-generation sequencing for germline and somatic variants (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 30, 2019 Category: Genetics & Stem Cells Authors: Maria Weronika Gutowska-Ding Zandra C. Deans Christophe Roos Jukka Matilainen Farrah Khawaja Kim Br ügger Jo Wook Ahn Christopher Boustred Simon J. Patton Source Type: research

A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesis
European Journal of Human Genetics, Published online: 30 September 2019; doi:10.1038/s41431-019-0524-0A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesis (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 30, 2019 Category: Genetics & Stem Cells Authors: Talal Alanzi Amal Alhashem Khalid Dagriri Fatema Alzahrani Fowzan S. Alkuraya Source Type: research

Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis
European Journal of Human Genetics, Published online: 30 September 2019; doi:10.1038/s41431-019-0521-3Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 30, 2019 Category: Genetics & Stem Cells Authors: Tobias Fleige Siegfried Burggraf Ludwig Czibere Julia H äring Birgit Gl ück Lisa Marie Keitel Olfert Landt Erik Harms Katharina Hohenfellner J ürgen Durner Wulf R öschinger Marc Becker Source Type: research

Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: Posters
European Journal of Human Genetics, Published online: 10 October 2019; doi:10.1038/s41431-019-0493-3Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: Posters (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 27, 2019 Category: Genetics & Stem Cells Source Type: research

Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: Oral Presentations
European Journal of Human Genetics, Published online: 10 October 2019; doi:10.1038/s41431-019-0492-4Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: Oral Presentations (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 27, 2019 Category: Genetics & Stem Cells Source Type: research

Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: Posters
European Journal of Human Genetics, Published online: 10 October 2019; doi:10.1038/s41431-019-0494-2Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: Posters (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 27, 2019 Category: Genetics & Stem Cells Source Type: research

Robin D Clark & Cynthia J Curry: Genetic Consultations in the Newborn
European Journal of Human Genetics, Published online: 27 September 2019; doi:10.1038/s41431-019-0517-zRobin D Clark & Cynthia J Curry: Genetic Consultations in the Newborn (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 27, 2019 Category: Genetics & Stem Cells Authors: Concetta Simona Perrotta Source Type: research

Functional variants in ADH1B and ALDH2 are non-additively associated with all-cause mortality in Japanese population
European Journal of Human Genetics, Published online: 26 September 2019; doi:10.1038/s41431-019-0518-yFunctional variants in ADH1B and ALDH2 are non-additively associated with all-cause mortality in Japanese population (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 26, 2019 Category: Genetics & Stem Cells Authors: Saori Sakaue Masato Akiyama Makoto Hirata Koichi Matsuda Yoshinori Murakami Michiaki Kubo Yoichiro Kamatani Yukinori Okada Source Type: research

Severe neurodevelopmental disease caused by a homozygous TLK2 variant
European Journal of Human Genetics, Published online: 26 September 2019; doi:10.1038/s41431-019-0519-xSevere neurodevelopmental disease caused by a homozygous TLK2 variant (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 26, 2019 Category: Genetics & Stem Cells Authors: Ana T öpf Yavuz Oktay Sunitha Balaraju Elmasnur Yilmaz Ece Sonmezler Uluc Yis Steven Laurie Rachel Thompson Andreas Roos Daniel G. MacArthur Ahmet Yaramis Serdal G üngör Hanns Lochm üller Semra Hiz Rita Horvath Source Type: research

A characterization of cis- and trans-heritability of RNA-Seq-based gene expression
European Journal of Human Genetics, Published online: 26 September 2019; doi:10.1038/s41431-019-0511-5A characterization of cis- and trans-heritability of RNA-Seq-based gene expression (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 26, 2019 Category: Genetics & Stem Cells Authors: Klaasjan G. Ouwens Rick Jansen Michel G. Nivard Jenny van Dongen Maia J. Frieser Jouke-Jan Hottenga Wibowo Arindrarto Annique Claringbould Maarten van Iterson Hailiang Mei Lude Franke Bastiaan T. Heijmans Peter A. C. ’t Hoen Joyce van Meurs Andrew I. Br Source Type: research

Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls
European Journal of Human Genetics, Published online: 20 September 2019; doi:10.1038/s41431-019-0510-6Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 20, 2019 Category: Genetics & Stem Cells Authors: Yongyi Yuan Qi Li Yu Su Qiongfen Lin Xue Gao Hankui Liu Shasha Huang Dongyang Kang N. Wendell Todd Douglas Mattox Jianguo Zhang Xi Lin Pu Dai Source Type: research

Ethical, legal, and social issues (ELSI) in rare diseases: a landscape analysis from funders
European Journal of Human Genetics, Published online: 19 September 2019; doi:10.1038/s41431-019-0513-3Ethical, legal, and social issues (ELSI) in rare diseases: a landscape analysis from funders (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 19, 2019 Category: Genetics & Stem Cells Authors: Adam L. Hartman Anneliene Hechtelt Jonker Melissa A. Parisi Daria Julkowska Nicole Lockhart Rosario Isasi Source Type: research

The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy
European Journal of Human Genetics, Published online: 18 September 2019; doi:10.1038/s41431-019-0500-8The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 18, 2019 Category: Genetics & Stem Cells Authors: Najim Lahrouchi Hariharan Raju Elisabeth M. Lodder Stathis Papatheodorou Chris Miles James S. Ware Michael Papadakis Rafik Tadros Della Cole Jonathan R. Skinner Jackie Crawford Donald R. Love Chee J. Pua Bee Y. Soh Jaydutt D. Bhalshankar Risha Govind Jaco Source Type: research

Rethinking the ethical principles of genomic medicine services
European Journal of Human Genetics, Published online: 18 September 2019; doi:10.1038/s41431-019-0507-1Rethinking the ethical principles of genomic medicine services (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 18, 2019 Category: Genetics & Stem Cells Authors: Stephanie B. Johnson Ingrid Slade Alberto Giubilini Mackenzie Graham Source Type: research

MNS1 variant associated with situs inversus and male infertility
European Journal of Human Genetics, Published online: 18 September 2019; doi:10.1038/s41431-019-0489-zMNS1 variant associated with situs inversus and male infertility (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 18, 2019 Category: Genetics & Stem Cells Authors: Joseph S. Leslie Lettie E. Rawlins Barry A. Chioza Oluwaseun R. Olubodun Claire G. Salter James Fasham Hannah F. Jones Harold E. Cross Simon Lam Gaurav V. Harlalka Martina M. A. Muggenthaler Andrew H. Crosby Emma L. Baple Source Type: research

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant
European Journal of Human Genetics, Published online: 16 September 2019; doi:10.1038/s41431-019-0506-2Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 16, 2019 Category: Genetics & Stem Cells Authors: Sunitha Balaraju Ana T öpf Grace McMacken Veeramani Preethish Kumar Astrid Pechmann Helen Roper Seena Vengalil Kiran Polavarapu Saraswati Nashi Niranjan Prakash Mahajan Ines A. Barbosa Charu Deshpande Robert W. Taylor Judith Cossins David Beeson Steven L Source Type: research

Stakeholders’ perspectives on the post-mortem use of genetic and health-related data for research: a systematic review
European Journal of Human Genetics, Published online: 16 September 2019; doi:10.1038/s41431-019-0503-5Stakeholders’ perspectives on the post-mortem use of genetic and health-related data for research: a systematic review (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 16, 2019 Category: Genetics & Stem Cells Authors: Marieke A. R. Bak M. Corrette Ploem Hakan Ate şyürek Marieke T. Blom Hanno L. Tan Dick L. Willems Source Type: research

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
European Journal of Human Genetics, Published online: 16 September 2019; doi:10.1038/s41431-019-0508-0Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 16, 2019 Category: Genetics & Stem Cells Authors: St éphanie Nguengang Wakap Deborah M. Lambert Annie Olry Charlotte Rodwell Charlotte Gueydan Val érie Lanneau Daniel Murphy Yann Le Cam Ana Rath Source Type: research

Distributed Ledger Technology in genomics: a call for Europe
European Journal of Human Genetics, Published online: 16 September 2019; doi:10.1038/s41431-019-0512-4Distributed Ledger Technology in genomics: a call for Europe (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 16, 2019 Category: Genetics & Stem Cells Authors: Scott Thiebes Matthias Schlesner Benedikt Brors Ali Sunyaev Source Type: research

What do cancer patients’ relatives think about addressing cancer family history and performing genetic testing in palliative care?
European Journal of Human Genetics, Published online: 16 September 2019; doi:10.1038/s41431-019-0505-3What do cancer patients’ relatives think about addressing cancer family history and performing genetic testing in palliative care? (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 16, 2019 Category: Genetics & Stem Cells Authors: Jude E. Cl éophat Ana Marin Sylvie Pelletier Yann Joly Pierre Gagnon Alberte D éry Jocelyne Chiquette Bruno Gagnon Louis Roy Vasiliki Bitzas Hermann Nabi Michel Dorval Source Type: research

Sequencing results from multiple individuals of different ethnicities strongly question the existence of the KCNE1B pseudogene
European Journal of Human Genetics, Published online: 16 September 2019; doi:10.1038/s41431-019-0502-6Sequencing results from multiple individuals of different ethnicities strongly question the existence of the KCNE1B pseudogene (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 16, 2019 Category: Genetics & Stem Cells Authors: Marta Di ñeiro Guadalupe A. Cifuentes Raquel Cap ín Adri án Santiago Andrea Otero David Castillo Patricia C. Pruneda Gonzalo R. Ord óñez Rub én Cabanillas Juan Cadi ñanos Source Type: research

Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy
European Journal of Human Genetics, Published online: 16 September 2019; doi:10.1038/s41431-019-0509-zDeclining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 16, 2019 Category: Genetics & Stem Cells Authors: Diantha Terlouw Manon Suerink Sunny S. Singh Hans J. J. P. Gille Frederik J. Hes Alexandra M. J. Langers Hans Morreau Hans F. A. Vasen Yvonne J. Vos Tom van Wezel Carli. M. Tops Sanne W. ten Broeke Maartje Nielsen Source Type: research

Genome sequencing in healthcare: understanding the UK general public’s views and implications for clinical practice
European Journal of Human Genetics, Published online: 16 September 2019; doi:10.1038/s41431-019-0504-4Genome sequencing in healthcare: understanding the UK general public’s views and implications for clinical practice (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 16, 2019 Category: Genetics & Stem Cells Authors: Lisa M. Ballard Rachel H. Horton Angela Fenwick Anneke M. Lucassen Source Type: research

Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population
European Journal of Human Genetics, Published online: 10 September 2019; doi:10.1038/s41431-019-0491-5Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 10, 2019 Category: Genetics & Stem Cells Authors: Daniel L. Polla Elisa Rahikkala Michaela K. Bode Tuomo M äättä Teppo Varilo Thyrza Loman Anju K. Philips Mitja Kurki Aarno Palotie Jarmo K örkkö P äivi Vieira Kristiina Avela Val érie Jacquemin Isabelle Pirson Marc Abramowicz Arjan P. M. de Brouwer Source Type: research

The Dutch Y-chromosomal landscape
European Journal of Human Genetics, Published online: 05 September 2019; doi:10.1038/s41431-019-0496-0The Dutch Y-chromosomal landscape (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 5, 2019 Category: Genetics & Stem Cells Authors: Eveline Altena Risha Smeding Kristiaan J. van der Gaag Maarten H. D. Larmuseau Ronny Decorte Oscar Lao Manfred Kayser Thirsa Kraaijenbrink Peter de Knijff Source Type: research

CUGC for Stromme syndrome and CENPF-related disorders
European Journal of Human Genetics, Published online: 05 September 2019; doi:10.1038/s41431-019-0498-yCUGC for Stromme syndrome and CENPF-related disorders (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 5, 2019 Category: Genetics & Stem Cells Authors: Isabel Filges Petter Stromme Source Type: research

GWAS of five gynecologic diseases and cross-trait analysis in Japanese
European Journal of Human Genetics, Published online: 05 September 2019; doi:10.1038/s41431-019-0495-1GWAS of five gynecologic diseases and cross-trait analysis in Japanese (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 5, 2019 Category: Genetics & Stem Cells Authors: Tatsuo Masuda Siew-Kee Low Masato Akiyama Makoto Hirata Yutaka Ueda Koichi Matsuda Tadashi Kimura Yoshinori Murakami Michiaki Kubo Yoichiro Kamatani Yukinori Okada Source Type: research

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
European Journal of Human Genetics, Published online: 05 September 2019; doi:10.1038/s41431-019-0497-zKIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 5, 2019 Category: Genetics & Stem Cells Authors: Maartje Pennings Meyke I. Schouten Judith van Gaalen Rowdy P. P. Meijer Susanne T. de Bot Marjolein Kriek Christiaan G. J. Saris Leonard H. van den Berg Michael A. van Es Dick M. H. Zuidgeest Mariet W. Elting Jiddeke M. van de Kamp Karin Y. van Spaendonck Source Type: research

Copy number variants in lipid metabolism genes are associated with gallstones disease in men
European Journal of Human Genetics, Published online: 04 September 2019; doi:10.1038/s41431-019-0501-7Copy number variants in lipid metabolism genes are associated with gallstones disease in men (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 4, 2019 Category: Genetics & Stem Cells Authors: Eduardo P érez-Palma Bernab é I. Bustos Dennis Lal Stephan Buch Lorena Azocar Mohammad Reza Toliat Wolfgang Lieb Andre Franke Sebastian Hinz Greta Burmeister Witigo von Sh önfels Clemens Schafmayer Peter Ahnert Henry V ölzke Uwe V ölker Georg Homuth Source Type: research

Sketching the prevalence of pharmacogenomic biomarkers among populations for clinical pharmacogenomics
European Journal of Human Genetics, Published online: 04 September 2019; doi:10.1038/s41431-019-0499-xSketching the prevalence of pharmacogenomic biomarkers among populations for clinical pharmacogenomics (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 4, 2019 Category: Genetics & Stem Cells Authors: George P. Patrinos Source Type: research

School level of children carrying a HNF1B variant or a deletion
European Journal of Human Genetics, Published online: 03 September 2019; doi:10.1038/s41431-019-0490-6School level of children carrying a HNF1B variant or a deletion (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - September 3, 2019 Category: Genetics & Stem Cells Authors: Fanny Lali ève St éphane Decramer Laurence Heidet V éronique Baudouin Annie Lahoche Brigitte Llanas Pierre Cochat Julie Tenenbaum Marie-Pierre Lavocat Philippe Eckart Fran çoise Broux Gwenaelle Roussey Sylvie Cloarec Isabelle Vrillon Olivier Dunand Lu Source Type: research

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities
European Journal of Human Genetics, Published online: 08 August 2019; doi:10.1038/s41431-019-0487-1Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - August 8, 2019 Category: Genetics & Stem Cells Authors: Renee Bend Lior Cohen Melissa T. Carter Michael J. Lyons Dmitriy Niyazov Mohamad A. Mikati Samantha K. Rojas Richard E. Person Yue Si Ingrid M. Wentzensen Erin Torti Jennifer A. Lee Kym M. Boycott Lina Basel-Salmon Carlos R. Ferreira Claudia Gonzaga-Jaure Source Type: research

APC transcription studies and molecular diagnosis of familial adenomatous polyposis
European Journal of Human Genetics, Published online: 05 August 2019; doi:10.1038/s41431-019-0486-2APC transcription studies and molecular diagnosis of familial adenomatous polyposis (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - August 5, 2019 Category: Genetics & Stem Cells Authors: Emma Short Laura E. Thomas Alice Davies Alice Bolton Julie Maynard Peter Giles Matthew Mort Claudia Consoli Iris Egner Hala Jundi Julian R. Sampson Source Type: research

Meeting report: The Human Genome Meeting (HGM) 2019 in Seoul, Korea
European Journal of Human Genetics, Published online: 01 August 2019; doi:10.1038/s41431-019-0461-yMeeting report: The Human Genome Meeting (HGM) 2019 in Seoul, Korea (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - August 1, 2019 Category: Genetics & Stem Cells Authors: Angela Solano Giuseppe Novelli Shruti Baghat Piero Carnici Gert-Jan van Ommen Juergen K. V. Reichardt Source Type: research

Genetics-related service and information needs of childhood cancer survivors and parents: a mixed-methods study
European Journal of Human Genetics, Published online: 30 July 2019; doi:10.1038/s41431-019-0481-7Genetics-related service and information needs of childhood cancer survivors and parents: a mixed-methods study (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - July 30, 2019 Category: Genetics & Stem Cells Authors: Janine Vetsch Claire E. Wakefield Katherine M. Tucker Maria McCarthy Christina Signorelli Thomas Walwyn Frank Alvaro Richard J. Cohn Source Type: research

Ethnic differences in prevalence of Dupuytren disease can partly be explained by known genetic risk variants
European Journal of Human Genetics, Published online: 30 July 2019; doi:10.1038/s41431-019-0483-5Ethnic differences in prevalence of Dupuytren disease can partly be explained by known genetic risk variants (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - July 30, 2019 Category: Genetics & Stem Cells Authors: Sophie A. Riesmeijer Paul M. N. Werker Ilja M. Nolte Source Type: research

High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR
European Journal of Human Genetics, Published online: 30 July 2019; doi:10.1038/s41431-019-0476-4High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - July 30, 2019 Category: Genetics & Stem Cells Authors: Ludwig Czibere Siegfried Burggraf Tobias Fleige Birgit Gl ück Lisa Marie Keitel Olfert Landt J ürgen Durner Wulf R öschinger Katharina Hohenfellner Brunhilde Wirth Wolfgang M üller-Felber Katharina Vill Marc Becker Source Type: research

Current management of transition of young people affected by rare renal conditions in the ERKNet
European Journal of Human Genetics, Published online: 30 July 2019; doi:10.1038/s41431-019-0460-zCurrent management of transition of young people affected by rare renal conditions in the ERKNet (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - July 30, 2019 Category: Genetics & Stem Cells Authors: Martin Kreuzer Jens Drube Jenny Pr üfe Franz Schaefer Lars Pape Lars Pape Gema Ariceta Larissa Kerecuk Giulia Bassanese Franz Schaefer Tanja Wlodkowski Giovanni Capasso Francesco Trepiccione Natalie Biebuyck Pietro Manuel Ferraro Flavia Galetti Antonia B Source Type: research

Heritability of human visual contour integration—an integrated genomic study
European Journal of Human Genetics, Published online: 30 July 2019; doi:10.1038/s41431-019-0478-2Heritability of human visual contour integration—an integrated genomic study (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - July 30, 2019 Category: Genetics & Stem Cells Authors: Zijian Zhu Biqing Chen Ren Na Wan Fang Wenxia Zhang Qin Zhou Shanbi Zhou Han Lei Ailong Huang Tingmei Chen Dongsheng Ni Yuping Gu Jianing Liu Yi Rao Fang Fang Source Type: research

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing
European Journal of Human Genetics, Published online: 29 July 2019; doi:10.1038/s41431-019-0477-3Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - July 29, 2019 Category: Genetics & Stem Cells Authors: Lauren S. Akesson Stefanie Eggers Clare J. Love Belinda Chong Emma I. Krzesinski Natasha J. Brown Tiong Y. Tan Christopher M. Richmond David R. Thorburn John Christodoulou Matthew F. Hunter Sebastian Lunke Zornitza Stark Source Type: research

Anophthalmia including next-generation sequencing-based approaches
European Journal of Human Genetics, Published online: 29 July 2019; doi:10.1038/s41431-019-0479-1Anophthalmia including next-generation sequencing-based approaches (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - July 29, 2019 Category: Genetics & Stem Cells Authors: Philippa Harding Brian P. Brooks David FitzPatrick Mariya Moosajee Source Type: research