Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15
European Journal of Human Genetics, Published online: 09 March 2020; doi:10.1038/s41431-020-0595-yCommon genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15 (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 9, 2020 Category: Genetics & Stem Cells Authors: Jasmin Beygo Christian Grosser Sabine Kaya Claudia Mertel Karin Buiting Bernhard Horsthemke Source Type: research

Second case of Bardet–Biedl syndrome caused by biallelic variants in IFT74
European Journal of Human Genetics, Published online: 06 March 2020; doi:10.1038/s41431-020-0594-zSecond case of Bardet–Biedl syndrome caused by biallelic variants in IFT74 (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 6, 2020 Category: Genetics & Stem Cells Authors: Lotte Kleinendorst Sanne I. M. Alsters Ozair Abawi Quinten Waisfisz Elles M. J. Boon Erica L. T. van den Akker Mieke M. van Haelst Source Type: research

Reply to Y. Takefuji
European Journal of Human Genetics, Published online: 02 March 2020; doi:10.1038/s41431-020-0598-8Reply to Y. Takefuji (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 2, 2020 Category: Genetics & Stem Cells Authors: Nicholas Mamo Gillian M. Martin Maria Desira Bridget Ellul Jean-Paul Ebejer Source Type: research

Disruptive and avoidable: GDPR challenges to secondary research uses of data
European Journal of Human Genetics, Published online: 02 March 2020; doi:10.1038/s41431-020-0596-xDisruptive and avoidable: GDPR challenges to secondary research uses of data (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 2, 2020 Category: Genetics & Stem Cells Authors: David Peloquin Michael DiMaio Barbara Bierer Mark Barnes Source Type: research

Detection and protection mechanisms against vulnerabilities are needed in blockchain applications
European Journal of Human Genetics, Published online: 02 March 2020; doi:10.1038/s41431-020-0597-9Detection and protection mechanisms against vulnerabilities are needed in blockchain applications (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 2, 2020 Category: Genetics & Stem Cells Authors: Yoshiyasu Takefuji Source Type: research

Inferring the population history of Tai-Kadai-speaking people and southernmost Han Chinese on Hainan Island by genome-wide array genotyping
European Journal of Human Genetics, Published online: 02 March 2020; doi:10.1038/s41431-020-0599-7Inferring the population history of Tai-Kadai-speaking people and southernmost Han Chinese on Hainan Island by genome-wide array genotyping (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - March 2, 2020 Category: Genetics & Stem Cells Authors: Guanglin He Zheng Wang Jianxin Guo Mengge Wang Xing Zou Renkuan Tang Jing Liu Han Zhang Yingxiang Li Rong Hu Lan-Hai Wei Gang Chen Chuan-Chao Wang Yiping Hou Source Type: research

Broad consent in practice: lessons learned from a hospital-based biobank for prospective research on genomic and medical data
European Journal of Human Genetics, Published online: 21 February 2020; doi:10.1038/s41431-020-0585-0Broad consent in practice: lessons learned from a hospital-based biobank for prospective research on genomic and medical data (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 21, 2020 Category: Genetics & Stem Cells Authors: Gaia Barazzetti Francesca Bosisio Daria Koutaissoff Brenda Spencer Source Type: research

An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase
European Journal of Human Genetics, Published online: 20 February 2020; doi:10.1038/s41431-020-0589-9An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 20, 2020 Category: Genetics & Stem Cells Authors: Veronica M. Pravata Michaela Omelkov á Marios P. Stavridis Chelsea M. Desbiens Hannah M. Stephen Dirk J. Lefeber Jozef Gecz Mehmet Gundogdu Katrin Õunap Shelagh Joss Charles E. Schwartz Lance Wells Daan M. F. van Aalten Source Type: research

Reviewer recognition
European Journal of Human Genetics, Published online: 20 February 2020; doi:10.1038/s41431-020-0593-0Reviewer recognition (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 20, 2020 Category: Genetics & Stem Cells Source Type: research

Incorporating information from markers in LD with test locus for detecting imprinting and maternal effects
European Journal of Human Genetics, Published online: 20 February 2020; doi:10.1038/s41431-020-0590-3Incorporating information from markers in LD with test locus for detecting imprinting and maternal effects (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 20, 2020 Category: Genetics & Stem Cells Authors: Fangyuan Zhang Shili Lin Source Type: research

Correction: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations
European Journal of Human Genetics, Published online: 18 February 2020; doi:10.1038/s41431-020-0587-yCorrection: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 18, 2020 Category: Genetics & Stem Cells Authors: Soara Menab ò Seher Polat Lilia Baldazzi Alexandra E. Kulle Paul-Martin Holterhus Joachim Gr ötzinger Flaminia Fanelli Antonio Balsamo Felix G. Riepe Source Type: research

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
European Journal of Human Genetics, Published online: 18 February 2020; doi:10.1038/s41431-020-0582-3Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20 (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 18, 2020 Category: Genetics & Stem Cells Authors: Aur élien Juven Sophie Nambot Am élie Piton Nolwenn Jean-Mar çais Alice Masurel Patrick Callier Nathalie Marle Anne-Laure Mosca-Boidron Paul Kuentz Christophe Philippe Martin Chevarin Yannis Duffourd Elodie Gautier Arnold Munnich Marl ène Rio Sophie R Source Type: research

Reply to C.D. Richter
European Journal of Human Genetics, Published online: 17 February 2020; doi:10.1038/s41431-020-0588-xReply to C.D. Richter (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 17, 2020 Category: Genetics & Stem Cells Authors: Johnathon Liddicoat Kathleen Liddell Arlie H. McCarthy Stuart Hogarth Mateo Aboy Dianne Nicol Simon Patton Michael M. Hopkins Source Type: research

A dominant vimentin variant causes a rare syndrome with premature aging
European Journal of Human Genetics, Published online: 17 February 2020; doi:10.1038/s41431-020-0583-2A dominant vimentin variant causes a rare syndrome with premature aging (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 17, 2020 Category: Genetics & Stem Cells Authors: Benjamin Cogn é Jamal-Eddine Bouameur Ga ëlle Hayot Xenia Latypova Sundararaghavan Pattabiraman Amandine Caillaud Karim Si-Tayeb Thomas Besnard S ébastien Küry Caroline Chariau Anne Gaignerie Laurent David Philippe Bordure Daniel Kaganovich St éphane Source Type: research

Relationships between patient- and session-related variables and outcomes of psychiatric genetic counseling
European Journal of Human Genetics, Published online: 17 February 2020; doi:10.1038/s41431-020-0592-1Relationships between patient- and session-related variables and outcomes of psychiatric genetic counseling (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 17, 2020 Category: Genetics & Stem Cells Authors: Sarah Gerrard Angela Inglis Emily Morris Jehannine Austin Source Type: research

Response to “Continental drift? Do European clinical genetic testing laboratories have a patent problem?”
European Journal of Human Genetics, Published online: 17 February 2020; doi:10.1038/s41431-020-0591-2Response to “Continental drift? Do European clinical genetic testing laboratories have a patent problem?” (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 17, 2020 Category: Genetics & Stem Cells Authors: Carsten D. Richter Source Type: research

Smith–Lemli–Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?
European Journal of Human Genetics, Published online: 13 February 2020; doi:10.1038/s41431-020-0577-0Smith–Lemli–Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant? (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 13, 2020 Category: Genetics & Stem Cells Authors: Hagit Daum Vardiella Meiner Rachel Michaelson-Cohen Rivka Sukenik-Halevy Michal Levy Zalcberg Anat Bar-Ziv A. Tzvi Weiden Sholem Y. Scher Mordechai Shohat Jo ël Zlotogora Source Type: research

Evaluation of current genetic testing reports in German-speaking countries with regard to secondary use and future electronic implementation
European Journal of Human Genetics, Published online: 13 February 2020; doi:10.1038/s41431-020-0586-zEvaluation of current genetic testing reports in German-speaking countries with regard to secondary use and future electronic implementation (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 13, 2020 Category: Genetics & Stem Cells Authors: Teja Falk Radke Simon J. Patton Elisabeth Pantazoglou Julian Sass Sylvia Thun Source Type: research

Alternate approach to stroke phenotyping identifies a genetic risk locus for small vessel stroke
European Journal of Human Genetics, Published online: 11 February 2020; doi:10.1038/s41431-020-0580-5Alternate approach to stroke phenotyping identifies a genetic risk locus for small vessel stroke (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 11, 2020 Category: Genetics & Stem Cells Authors: Joanna von Berg Sander W. van der Laan Patrick F. McArdle Rainer Malik Steven J. Kittner Braxton D. Mitchell Bradford B. Worrall Jeroen de Ridder Sara L. Pulit Source Type: research

Cryptic exon activation causes dystrophinopathy in two Chinese families
European Journal of Human Genetics, Published online: 11 February 2020; doi:10.1038/s41431-020-0578-zCryptic exon activation causes dystrophinopathy in two Chinese families (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 11, 2020 Category: Genetics & Stem Cells Authors: Ming Jin Jin-Jing Li Guo-Rong Xu Ning Wang Zhi-Qiang Wang Source Type: research

The genetic history of France
European Journal of Human Genetics, Published online: 10 February 2020; doi:10.1038/s41431-020-0584-1The genetic history of France (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 10, 2020 Category: Genetics & Stem Cells Authors: Aude Saint Pierre Joanna Giemza Isabel Alves Matilde Karakachoff Marinna Gaudin Philippe Amouyel Jean-Fran çois Dartigues Christophe Tzourio Martial Monteil Pilar Galan Serge Hercberg Iain Mathieson Richard Redon Emmanuelle G énin Christian Dina Source Type: research

Clinical genomic testing: what matters to key stakeholders?
European Journal of Human Genetics, Published online: 05 February 2020; doi:10.1038/s41431-020-0576-1Clinical genomic testing: what matters to key stakeholders? (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 5, 2020 Category: Genetics & Stem Cells Authors: Stephanie Best Zornitza Stark Peta Phillips You Wu Janet C. Long Natalie Taylor Jeffrey Braithwaite John Christodoulou Ilias Goranitis Source Type: research

Recommendations for designing genetic test reports to be understood by patients and non-specialists
European Journal of Human Genetics, Published online: 05 February 2020; doi:10.1038/s41431-020-0579-yRecommendations for designing genetic test reports to be understood by patients and non-specialists (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - February 5, 2020 Category: Genetics & Stem Cells Authors: George D. Farmer Harry Gray Gemma Chandratillake F Lucy Raymond Alexandra L. J. Freeman Source Type: research

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature
European Journal of Human Genetics, Published online: 31 January 2020; doi:10.1038/s41431-020-0571-6De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 31, 2020 Category: Genetics & Stem Cells Authors: Sophie Nambot Laurence Faivre Ghayda Mirzaa Julien Thevenon Ange-Line Bruel Anne-Laure Mosca-Boidron Alice Masurel-Paulet Alice Goldenberg Nathalie Le Meur Aude Charollais Cyril Mignot Florence Petit Massimiliano Rossi Julia Metreau Val érie Layet Daniel Source Type: research

Identification of RELN variant p.(Ser2486Gly) in an Iranian family with ankylosing spondylitis; the first association of RELN and AS
European Journal of Human Genetics, Published online: 30 January 2020; doi:10.1038/s41431-020-0573-4Identification of RELN variant p.(Ser2486Gly) in an Iranian family with ankylosing spondylitis; the first association of RELN and AS (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 30, 2020 Category: Genetics & Stem Cells Authors: Masoud Garshasbi Mahdi Mahmoudi Ehsan Razmara Mahdi Vojdanian Saeed Aslani Elham Farhadi Lars Riff Jensen Seyed Masoud Arzaghi Shiva Poursani Amirreza Bitaraf Milad Eidi Elika Esmaeilzadeh Gharehdaghi Andreas Walter Kuss Ahmadreza Jamshidi Source Type: research

Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study
European Journal of Human Genetics, Published online: 30 January 2020; doi:10.1038/s41431-020-0575-2Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 30, 2020 Category: Genetics & Stem Cells Authors: Celine Lewis Saskia Sanderson Melissa Hill Chris Patch Beverly Searle Amy Hunter Lyn S. Chitty Source Type: research

Genotype phasing in pedigrees using whole-genome sequence data
European Journal of Human Genetics, Published online: 29 January 2020; doi:10.1038/s41431-020-0574-3Genotype phasing in pedigrees using whole-genome sequence data (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 29, 2020 Category: Genetics & Stem Cells Authors: August N. Blackburn Lucy Blondell Mark Z. Kos Nicholas B. Blackburn Juan M. Peralta Peter T. Stevens Donna M. Lehman John Blangero Harald H. H. G öring Source Type: research

A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4
European Journal of Human Genetics, Published online: 21 January 2020; doi:10.1038/s41431-020-0572-5A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4 (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 21, 2020 Category: Genetics & Stem Cells Authors: Prajnya Ranganath Sreeja Perala Lekshmi Nair Pramod Kumar Pamu Aparna Shankar Sakthivel Murugan Ashwin Dalal Source Type: research

Evidence for penetrance in patients without a family history of disease: a systematic review
European Journal of Human Genetics, Published online: 14 January 2020; doi:10.1038/s41431-019-0556-5Evidence for penetrance in patients without a family history of disease: a systematic review (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 14, 2020 Category: Genetics & Stem Cells Authors: Heather Turner Leigh Jackson Source Type: research

Transcript specific regulation of expression influences susceptibility to multiple sclerosis
European Journal of Human Genetics, Published online: 13 January 2020; doi:10.1038/s41431-019-0569-0Transcript specific regulation of expression influences susceptibility to multiple sclerosis (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 13, 2020 Category: Genetics & Stem Cells Authors: Maria Ban Wenjia Liao Amie Baker Alastair Compston John Thorpe Paul Molyneux Mary Fraser Jyoti Khadake Joanne Jones Alasdair Coles Stephen Sawcer Source Type: research

Exploring broad consent in the context of the 100,000 Genomes Project: a mixed methods study
European Journal of Human Genetics, Published online: 09 January 2020; doi:10.1038/s41431-019-0570-7Exploring broad consent in the context of the 100,000 Genomes Project: a mixed methods study (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 9, 2020 Category: Genetics & Stem Cells Authors: Lisa M. Ballard Rachel H. Horton Sandi Dheensa Angela Fenwick Anneke M. Lucassen Source Type: research

High-resolution inference of genetic relationships among Jewish populations
European Journal of Human Genetics, Published online: 09 January 2020; doi:10.1038/s41431-019-0542-yHigh-resolution inference of genetic relationships among Jewish populations (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 9, 2020 Category: Genetics & Stem Cells Authors: Naama M. Kopelman Lewi Stone Dena G. Hernandez Dov Gefel Andrew B. Singleton Evelyne Heyer Marcus W. Feldman Jossi Hillel Noah A. Rosenberg Source Type: research

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing
European Journal of Human Genetics, Published online: 09 January 2020; doi:10.1038/s41431-019-0567-2Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 9, 2020 Category: Genetics & Stem Cells Authors: Ivana Jedli čková Maxime Cadieux-Dion Anna P řistoupilová Viktor Str ánecký Hana Hartmannov á Kate řina Hodaňová Veronika Bare šová Helena H ůlková Jakub Sikora Lenka Noskov á Dita Mu šálková Petr Vyle ťal Jana Sovov á Patrick Cossette Source Type: research

Searching for parent-of-origin effects on cardiometabolic traits in imprinted genomic regions
European Journal of Human Genetics, Published online: 02 January 2020; doi:10.1038/s41431-019-0568-1Searching for parent-of-origin effects on cardiometabolic traits in imprinted genomic regions (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 2, 2020 Category: Genetics & Stem Cells Authors: Einat Granot-Hershkovitz Peitao Wu David Karasik Inga Peter Gina M. Peloso Daniel Levy Ramachandran S. Vasan L. Adrienne Cupples Ching-Ti Liu James B. Meigs David S. Siscovick Jos ée Dupuis Yechiel Friedlander Hagit Hochner Source Type: research

Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority
European Journal of Human Genetics, Published online: 02 January 2020; doi:10.1038/s41431-019-0566-3Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 2, 2020 Category: Genetics & Stem Cells Authors: Anja K. Mayer Ghassan Balousha Rajech Sharkia Muhammad Mahajnah Suhail Ayesh Martin Schulze Rebecca Buchert Ditta Zobor Abdussalam Azem Ludger Sch öls Peter Bauer Bernd Wissinger Source Type: research

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy
European Journal of Human Genetics, Published online: 02 January 2020; doi:10.1038/s41431-019-0563-6TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 2, 2020 Category: Genetics & Stem Cells Authors: Pietro Spitali Irina Zaharieva Stefan Bohringer Monika Hiller Amina Chaouch Andreas Roos Chiara Scotton Mireille Claustres Luca Bello Craig M. McDonald Eric P. Hoffman Alberto Dubrovsky Andrew Kornberg Kathryn North Monique Ryan Richard Webster W. Douglas Source Type: research

CUGC for syndromic microphthalmia including next-generation sequencing-based approaches
European Journal of Human Genetics, Published online: 02 January 2020; doi:10.1038/s41431-019-0565-4CUGC for syndromic microphthalmia including next-generation sequencing-based approaches (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 2, 2020 Category: Genetics & Stem Cells Authors: Jonathan Eintracht Marta Corton David FitzPatrick Mariya Moosajee Source Type: research

Development and mixed-methods evaluation of an online animation for young people about genome sequencing
European Journal of Human Genetics, Published online: 02 January 2020; doi:10.1038/s41431-019-0564-5Development and mixed-methods evaluation of an online animation for young people about genome sequencing (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 2, 2020 Category: Genetics & Stem Cells Authors: Celine Lewis Saskia C. Sanderson Jennifer Hammond Melissa Hill Beverly Searle Amy Hunter Christine Patch Lyn S. Chitty Source Type: research

Identification of Lynch syndrome by microsatellite instability and mismatch repair deficiency testing on colorectal adenomas
European Journal of Human Genetics, Published online: 19 December 2019; doi:10.1038/s41431-019-0562-7Identification of Lynch syndrome by microsatellite instability and mismatch repair deficiency testing on colorectal adenomas (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - December 19, 2019 Category: Genetics & Stem Cells Authors: Leah H. Biller Matthew B. Yurgelun Source Type: research

Response to multiple glucose-lowering agents in a sib-pair with a novel HNF1α (MODY3) variant
European Journal of Human Genetics, Published online: 16 December 2019; doi:10.1038/s41431-019-0561-8Response to multiple glucose-lowering agents in a sib-pair with a novel HNF1α (MODY3) variant (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - December 16, 2019 Category: Genetics & Stem Cells Authors: Clara S. H. Tan Su Fen Ang Su Chi Lim Source Type: research

SweHLA: the high confidence HLA typing bio-resource drawn from 1000 Swedish genomes
European Journal of Human Genetics, Published online: 16 December 2019; doi:10.1038/s41431-019-0559-2SweHLA: the high confidence HLA typing bio-resource drawn from 1000 Swedish genomes (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - December 16, 2019 Category: Genetics & Stem Cells Authors: Jessika Nordin Adam Ameur Kerstin Lindblad-Toh Ulf Gyllensten Jennifer R. S. Meadows Source Type: research

Dwarna: a blockchain solution for dynamic consent in biobanking
European Journal of Human Genetics, Published online: 16 December 2019; doi:10.1038/s41431-019-0560-9Dwarna: a blockchain solution for dynamic consent in biobanking (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - December 16, 2019 Category: Genetics & Stem Cells Authors: Nicholas Mamo Gillian M. Martin Maria Desira Bridget Ellul Jean-Paul Ebejer Source Type: research

Mixed-model admixture mapping identifies smoking-dependent loci of lung function in African Americans
European Journal of Human Genetics, Published online: 13 December 2019; doi:10.1038/s41431-019-0545-8Mixed-model admixture mapping identifies smoking-dependent loci of lung function in African Americans (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - December 13, 2019 Category: Genetics & Stem Cells Authors: Andrey Ziyatdinov Margaret M. Parker Amaury Vaysse Terri H. Beaty Peter Kraft Michael H. Cho Hugues Aschard Source Type: research

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease
European Journal of Human Genetics, Published online: 13 December 2019; doi:10.1038/s41431-019-0548-5Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - December 13, 2019 Category: Genetics & Stem Cells Authors: Omamah A. Jiman Rachel L. Taylor Eva Lenassi Jill Clayton Smith Sofia Douzgou Jamie M. Ellingford Stephanie Barton Claire Hardcastle Tracy Fletcher Christopher Campbell Jane Ashworth Susmito Biswas Simon C. Ramsden Forbes D. Manson Graeme C. Black Source Type: research

Exome sequencing in infants with congenital hearing impairment: a population-based cohort study
European Journal of Human Genetics, Published online: 12 December 2019; doi:10.1038/s41431-019-0553-8Exome sequencing in infants with congenital hearing impairment: a population-based cohort study (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - December 12, 2019 Category: Genetics & Stem Cells Authors: Lilian Downie Jane Halliday Rachel Burt Sebastian Lunke Elly Lynch Melissa Martyn Zeffie Poulakis Clara Gaff Valerie Sung Melissa Wake Matthew F. Hunter Kerryn Saunders Elizabeth Rose Sharon Lewis Anna Jarmolowicz Dean Phelan Heidi L. Rehm David J. Amor Source Type: research

The paternal and maternal genetic history of Vietnamese populations
European Journal of Human Genetics, Published online: 11 December 2019; doi:10.1038/s41431-019-0557-4The paternal and maternal genetic history of Vietnamese populations (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - December 11, 2019 Category: Genetics & Stem Cells Authors: Enrico Macholdt Leonardo Arias Nguyen Thuy Duong Nguyen Dang Ton Nguyen Van Phong Roland Schr öder Brigitte Pakendorf Nong Van Hai Mark Stoneking Source Type: research

Novel clinical and genetic insight into CXorf56-associated intellectual disability
European Journal of Human Genetics, Published online: 10 December 2019; doi:10.1038/s41431-019-0558-3Novel clinical and genetic insight into CXorf56-associated intellectual disability (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - December 10, 2019 Category: Genetics & Stem Cells Authors: Maria Eugenia Rocha Tain á Regina Damaceno Silveira Erina Sasaki Da íse Moreno Sás Charles Marques Louren ço Krishna K. Kandaswamy Christian Beetz Arndt Rolfs Peter Bauer Willie Reardon Aida M. Bertoli-Avella Source Type: research

Targeted deep-intronic sequencing in a cohort of unexplained cases of suspected Lynch syndrome
European Journal of Human Genetics, Published online: 10 December 2019; doi:10.1038/s41431-019-0536-9Targeted deep-intronic sequencing in a cohort of unexplained cases of suspected Lynch syndrome (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - December 10, 2019 Category: Genetics & Stem Cells Authors: Anke Marie Arnold Monika Morak Anna Benet-Pag ès Andreas Laner Dimitrij Frishman Elke Holinski-Feder Source Type: research

Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation
European Journal of Human Genetics, Published online: 05 December 2019; doi:10.1038/s41431-019-0554-7Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - December 5, 2019 Category: Genetics & Stem Cells Authors: Elisabetta Tabolacci Maria Grazia Pomponi Laura Remondini Roberta Pietrobono Veronica Nobile Gaetana Pennacchio Fiorella Gurrieri Giovanni Neri Maurizio Genuardi Pietro Chiurazzi Source Type: research

Primary care provider perspectives on using genomic sequencing in the care of healthy children
European Journal of Human Genetics, Published online: 05 December 2019; doi:10.1038/s41431-019-0547-6Primary care provider perspectives on using genomic sequencing in the care of healthy children (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - December 5, 2019 Category: Genetics & Stem Cells Authors: Esha Joshi Chloe Mighton Marc Clausen Selina Casalino Theresa H. M. Kim Christine Kowal Catherine Birken Jonathon L. Maguire Yvonne Bombard Source Type: research