Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome
European Journal of Human Genetics, Published online: 16 January 2022; doi:10.1038/s41431-021-01023-4Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 16, 2022 Category: Genetics & Stem Cells Authors: Timothy E. Green Mareike Schimmel Susanna Schubert Johannes R. Lemke Mark F. Bennett Michael S. Hildebrand Samuel F. Berkovic Source Type: research

Where is genetic medicine headed? Exploring the perspectives of Canadian genetic professionals on future trends using the Delphi method
European Journal of Human Genetics, Published online: 15 January 2022; doi:10.1038/s41431-021-01017-2Where is genetic medicine headed? Exploring the perspectives of Canadian genetic professionals on future trends using the Delphi method (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 15, 2022 Category: Genetics & Stem Cells Authors: Kennedy Borle Nicola Kopac Nick Dragojlovic Elisabet Rodriguez Llorian Jan M. Friedman Alison M. Elliott Larry D. Lynd Source Type: research

Polygenic risk modeling for prediction of epithelial ovarian cancer risk
European Journal of Human Genetics, Published online: 14 January 2022; doi:10.1038/s41431-021-00987-7Polygenic risk modeling for prediction of epithelial ovarian cancer risk (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 14, 2022 Category: Genetics & Stem Cells Authors: Eileen O. Dareng Jonathan P. Tyrer Daniel R. Barnes Michelle R. Jones Xin Yang Katja K. H. Aben Muriel A. Adank Simona Agata Irene L. Andrulis Hoda Anton-Culver Natalia N. Antonenkova Gerasimos Aravantinos Banu K. Arun Annelie Augustinsson Judith Balma ñ Source Type: research

The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community
European Journal of Human Genetics, Published online: 14 January 2022; doi:10.1038/s41431-021-01019-0The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 14, 2022 Category: Genetics & Stem Cells Authors: Florence Riccardi Ruta Marcinkute Celia Azevedo Soares Patricia Stefana Calapod Juliana Miranda Cerqueira Elena Avram Can Ding Source Type: research

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies
European Journal of Human Genetics, Published online: 11 January 2022; doi:10.1038/s41431-021-01027-0Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 11, 2022 Category: Genetics & Stem Cells Authors: Julian Schr öter Bernt Popp Heiko Brennenstuhl Jan H. D öring Stephany H. Donze Emilia K. Bijlsma Arie van Haeringen Dagmar Huhle Leonie Jestaedt Andreas Merkenschlager Maria Arelin Daniel Gr äfe Sonja Neuser Stephanie Oates Deb K. Pal Michael J. Parke Source Type: research

Novel biallelic variants expand the SLC5A6-related phenotypic spectrum
European Journal of Human Genetics, Published online: 11 January 2022; doi:10.1038/s41431-021-01033-2Novel biallelic variants expand the SLC5A6-related phenotypic spectrum (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 11, 2022 Category: Genetics & Stem Cells Authors: Tess Holling Sheela Nampoothiri Bedirhan Tarhan Pauline E. Schneeberger Kollencheri Puthenveettil Vinayan Dhanya Yesodharan Arun Grace Roy Periyasamy Radhakrishnan Malik Alawi Lindsay Rhodes Katta Mohan Girisha Peter B. Kang Kerstin Kutsche Source Type: research

Informing relatives of their genetic risk: an examination of the Belgian legal context
European Journal of Human Genetics, Published online: 08 January 2022; doi:10.1038/s41431-021-01016-3Informing relatives of their genetic risk: an examination of the Belgian legal context (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 8, 2022 Category: Genetics & Stem Cells Authors: Amicia Phillips Thomas Bronselaer Pascal Borry Ine Van Hoyweghen Danya F. Vears Laurent Pasquier Stefaan Callens Source Type: research

Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711
European Journal of Human Genetics, Published online: 07 January 2022; doi:10.1038/s41431-021-01018-1Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711 (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 7, 2022 Category: Genetics & Stem Cells Authors: Jiyong Wang Aidin Foroutan Ellen Richardson Steven A. Skinner Jack Reilly Jennifer Kerkhof Cynthia J. Curry Patrick S. Tarpey Stephen P. Robertson Isabelle Maystadt Boris Keren Joanne W. Dixon Cindy Skinner Rachel Stapleton Lyse Ruaud Evren Gumus Phillis Source Type: research

Genetic counselling and testing for neurodegenerative disorders using a proposed standard of practice for ALS/MND: diagnostic testing comes first
European Journal of Human Genetics, Published online: 05 January 2022; doi:10.1038/s41431-021-01036-zGenetic counselling and testing for neurodegenerative disorders using a proposed standard of practice for ALS/MND: diagnostic testing comes first (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 5, 2022 Category: Genetics & Stem Cells Authors: Ashley Crook Alison McEwen Source Type: research

A tool for translating polygenic scores onto the absolute scale using summary statistics
European Journal of Human Genetics, Published online: 04 January 2022; doi:10.1038/s41431-021-01028-zA tool for translating polygenic scores onto the absolute scale using summary statistics (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 4, 2022 Category: Genetics & Stem Cells Authors: Oliver Pain Alexandra C. Gillett Jehannine C. Austin Lasse Folkersen Cathryn M. Lewis Source Type: research

Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update
European Journal of Human Genetics, Published online: 04 January 2022; doi:10.1038/s41431-021-01013-6Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 4, 2022 Category: Genetics & Stem Cells Authors: Anthony McGuigan James Whitworth Avgi Andreou Timothy Hearn J. C. Ambrose P. Arumugam R. Bevers M. Bleda F. Boardman-Pretty C. R. Boustred H. Brittain M. J. Caulfield G. C. Chan T. Fowler A. Giess A. Hamblin S. Henderson T. J. P. Hubbard R. Jackson L. J. Source Type: research

The simplest explanation does not have to be preferred: co-occurrence of pathogenic variants in cancer-predisposing genes
European Journal of Human Genetics, Published online: 04 January 2022; doi:10.1038/s41431-021-01031-4The simplest explanation does not have to be preferred: co-occurrence of pathogenic variants in cancer-predisposing genes (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 4, 2022 Category: Genetics & Stem Cells Authors: Sergi Castellv í-Bel Source Type: research

2021 at European Journal of Human Genetics: the year in review
European Journal of Human Genetics, Published online: 04 January 2022; doi:10.1038/s41431-021-01009-22021 at European Journal of Human Genetics: the year in review (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 4, 2022 Category: Genetics & Stem Cells Authors: Alisdair McNeill Source Type: research

Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype–phenotype correlations
European Journal of Human Genetics, Published online: 01 January 2022; doi:10.1038/s41431-021-01012-7Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype–phenotype correlations (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 1, 2022 Category: Genetics & Stem Cells Authors: Mateja Smogavec Maria Gerykova Bujalkova Reinhard Lehner J ürgen Neesen Jana Behunova G ülen Yerlikaya-Schatten Theresa Reischer Reinhard Altmann Denisa Weis Hans-Christoph Duba Franco Laccone Source Type: research

Novel insights into the consequences of obesity: a phenotype-wide Mendelian randomization study
European Journal of Human Genetics, Published online: 01 January 2022; doi:10.1038/s41431-021-00978-8Novel insights into the consequences of obesity: a phenotype-wide Mendelian randomization study (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - January 1, 2022 Category: Genetics & Stem Cells Authors: Chang He Miaoran Zhang Jiuling Li Yiqing Wang Lanlan Chen Baiyu Qi Jianping Wen Jianli Yang Sitong Lin Dianyuan Liu Ying Dong Liying Wang Qing Wang Peng Chen Source Type: research

Correction to: Origins, admixture and founder lineages in European Roma
European Journal of Human Genetics, Published online: 24 December 2021; doi:10.1038/s41431-021-01020-7Correction to: Origins, admixture and founder lineages in European Roma (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - December 24, 2021 Category: Genetics & Stem Cells Authors: Bego ña Martínez-Cruz Isabel Mendizabal Christine Harmant Rosario de Pablo Mihai Ioana Dora Angelicheva Anastasia Kouvatsi Halyna Makukh Mihai G Netea Horolma Pamjav Andrea Zal án Ivailo Tournev Elena Marushiakova Vesselin Popov Jaume Bertranpetit Luba Source Type: research

A summary-statistics-based approach to examine the role of serotonin transporter promoter tandem repeat polymorphism in psychiatric phenotypes
European Journal of Human Genetics, Published online: 23 December 2021; doi:10.1038/s41431-021-00996-6A summary-statistics-based approach to examine the role of serotonin transporter promoter tandem repeat polymorphism in psychiatric phenotypes (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - December 23, 2021 Category: Genetics & Stem Cells Authors: Arunabha Majumdar Preksha Patel Bogdan Pasaniuc Roel A. Ophoff Source Type: research

The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice
European Journal of Human Genetics, Published online: 17 December 2021; doi:10.1038/s41431-021-01000-xPolygenic risk score analyses on embryos (PGT-P) are being marketed by some private testing companies to parents using in vitro fertilisation as being useful in selecting the embryos that carry the least risk of disease in later life. It appears that at least one child has been born after such a procedure. But the utility of a PRS in this respect is severely limited, and to date, no clinical research has been performed to assess its diagnostic effectiveness in embryos. Patients need to be properly informed on the limitatio...
Source: European Journal of Human Genetics - December 17, 2021 Category: Genetics & Stem Cells Authors: Francesca Forzano Olga Antonova Angus Clarke Guido de Wert Sabine Hentze Yalda Jamshidi Yves Moreau Markus Perola Inga Prokopenko Andrew Read Alexandre Reymond Vigdis Stefansdottir Carla van El Maurizio Genuardi Borut Peterlin Carla Oliveira Karin Writzl Source Type: research

Correction to: Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health
European Journal of Human Genetics, Published online: 14 December 2021; doi:10.1038/s41431-021-01021-6Correction to: Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - December 14, 2021 Category: Genetics & Stem Cells Authors: Jarle Johannessen Terje N ærland Sigrun Hope Tonje Torske Anett Kaale Katrine V. Wirgenes Eva Malt Srdjan Djurovic Marcella Rietschel Ole A. Andreassen Source Type: research

Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study
European Journal of Human Genetics, Published online: 13 December 2021; doi:10.1038/s41431-021-01015-4Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - December 13, 2021 Category: Genetics & Stem Cells Authors: Claire Forde Emma Burkitt-Wright Peter D. Turnpenny Eric Haan John Ealing Sahar Mansour Muriel Holder Nayana Lahiri Abhijit Dixit Annie Procter Laurence Pacot Dominique Vidaud Yline Capri Marion Gerard H élène Dollfus Elise Schaefer Chlo é Quelin Sabin Source Type: research

30 year experience of index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes
European Journal of Human Genetics, Published online: 06 December 2021; doi:10.1038/s41431-021-01011-830 year experience of index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - December 6, 2021 Category: Genetics & Stem Cells Authors: Emma R. Woodward Kate Green George J. Burghel Michael Bulman Tara Clancy Fiona Lalloo Helene Schlecht Andrew J. Wallace D. Gareth Evans Source Type: research

Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss
European Journal of Human Genetics, Published online: 03 December 2021; doi:10.1038/s41431-021-01010-9Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - December 3, 2021 Category: Genetics & Stem Cells Authors: Christel Vach é David Baux Julie Bianchi Corinne Baudoin Val érie Faugère Christine Francannet Michel Koenig Vasiliki Kalatzis Anne-Fran çoise Roux Source Type: research

New year, new issue
European Journal of Human Genetics, Published online: 01 December 2021; doi:10.1038/s41431-021-01014-5New year, new issue (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - December 1, 2021 Category: Genetics & Stem Cells Authors: Alisdair McNeill Source Type: research

A polygenic risk score for multiple myeloma risk prediction
European Journal of Human Genetics, Published online: 30 November 2021; doi:10.1038/s41431-021-00986-8A polygenic risk score for multiple myeloma risk prediction (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - November 30, 2021 Category: Genetics & Stem Cells Authors: Federico Canzian Chiara Piredda Angelica Macauda Daria Zawirska Niels Frost Andersen Arnon Nagler Jan Maciej Zaucha Grzegorz Mazur Charles Dumontet Marzena W ątek Krzysztof Jamroziak Juan Sainz Judit V árkonyi Aleksandra Butrym Katia Beider Niels Abildg Source Type: research

Genetic testing decisions in non-western cultures: an opportunity for intergenerational decision making
European Journal of Human Genetics, Published online: 29 November 2021; doi:10.1038/s41431-021-01008-3Genetic testing decisions in non-western cultures: an opportunity for intergenerational decision making (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - November 29, 2021 Category: Genetics & Stem Cells Authors: Erin Turbitt Jody L. Lin Source Type: research

Commentary on: Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON
European Journal of Human Genetics, Published online: 29 November 2021; doi:10.1038/s41431-021-01007-4Commentary on: Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - November 29, 2021 Category: Genetics & Stem Cells Authors: Elizabeth Emma Palmer Source Type: research

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria
European Journal of Human Genetics, Published online: 26 November 2021; doi:10.1038/s41431-021-00984-wGenomic analysis of childhood hearing loss in the Yoruba population of Nigeria (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - November 26, 2021 Category: Genetics & Stem Cells Authors: Adebolajo Adeyemo Rabia Faridi Parna Chattaraj Rizwan Yousaf Risa Tona Samuel Okorie Thashi Bharadwaj Liz M. Nouel-Saied Anushree Acharya Isabelle Schrauwen Robert J. Morell Suzanne M. Leal Thomas B. Friedman Andrew J. Griffith Isabelle Roux Source Type: research

Deafness—family matters
European Journal of Human Genetics, Published online: 25 November 2021; doi:10.1038/s41431-021-01006-5Deafness—family matters (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - November 25, 2021 Category: Genetics & Stem Cells Authors: Anne-Fran çoise Roux Source Type: research

Genomics elucidates both common and rare disease aetiology
European Journal of Human Genetics, Published online: 25 November 2021; doi:10.1038/s41431-021-01001-wGenomics elucidates both common and rare disease aetiology (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - November 25, 2021 Category: Genetics & Stem Cells Authors: Alisdair McNeill Source Type: research

A tailored approach to informing relatives at risk of inherited cardiac conditions: results of a randomised controlled trial
European Journal of Human Genetics, Published online: 24 November 2021; doi:10.1038/s41431-021-00993-9A tailored approach to informing relatives at risk of inherited cardiac conditions: results of a randomised controlled trial (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - November 24, 2021 Category: Genetics & Stem Cells Authors: Lieke M. van den Heuvel Yvonne M. Hoedemaekers Annette F. Baas Marieke J. H. Baars J. Peter van Tintelen Ellen M. A. Smets Imke Christiaans Source Type: research

Two distinct mechanisms underlie estrogen-receptor-negative breast cancer susceptibility at the 2p23.2 locus
European Journal of Human Genetics, Published online: 22 November 2021; doi:10.1038/s41431-021-01005-6Two distinct mechanisms underlie estrogen-receptor-negative breast cancer susceptibility at the 2p23.2 locus (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - November 22, 2021 Category: Genetics & Stem Cells Authors: Gustavo Mendoza-Fandi ño Paulo Cilas M. Lyra Jr Thales C. Nepomuceno Carly M. Harro Nicholas T. Woods Xueli Li Leticia B. Rangel Marcelo A. Carvalho Fergus J. Couch Alvaro N. A. Monteiro Source Type: research

Motives for withdrawal of participation in biobanking and participants’ willingness to allow linkages of their data
European Journal of Human Genetics, Published online: 22 November 2021; doi:10.1038/s41431-021-00997-5Motives for withdrawal of participation in biobanking and participants’ willingness to allow linkages of their data (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - November 22, 2021 Category: Genetics & Stem Cells Authors: Reinder Broekstra Judith L. Aris-Meijer Els L. M. Maeckelberghe Ronald P. Stolk Sabine Otten Source Type: research

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt
European Journal of Human Genetics, Published online: 22 November 2021; doi:10.1038/s41431-021-00994-8Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - November 22, 2021 Category: Genetics & Stem Cells Authors: Flavien Rouxel Kevin Yauy Guilaine Boursier Vincent Gatinois Mouna Barat-Houari Elodie Sanchez Didier Lacombe St éphanie Arpin Fabienne Giuliano Damien Haye Marl ène Rio Annick Toutain Klaus Dieterich Elise Brischoux-Boucher Sophie Julia Mathilde Nizon Source Type: research

Invited Commentary on “My Research Results: a program to facilitate return of clinically actionable genomic research findings” by Willis et al.
European Journal of Human Genetics, Published online: 22 November 2021; doi:10.1038/s41431-021-01003-8Invited Commentary on “My Research Results: a program to facilitate return of clinically actionable genomic research findings” by Willis et al. (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - November 22, 2021 Category: Genetics & Stem Cells Authors: Leslie G. Biesecker Source Type: research

Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2C19 and CYP2D6 and SSRIs
European Journal of Human Genetics, Published online: 16 November 2021; doi:10.1038/s41431-021-01004-7Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2C19 and CYP2D6 and SSRIs (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - November 16, 2021 Category: Genetics & Stem Cells Authors: Jurriaan M. J. L. Brouwer Marga Nijenhuis Bianca Soree Henk-Jan Guchelaar Jesse J. Swen Ron H. N. van Schaik Jan van der Weide Gerard A. P. J. M. Rongen Anne-Marie Buunk Nienke J. de Boer-Veger Elisa J. F. Houwink Roos van Westrhenen Bob Wilffert Vera H. Source Type: research

Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
European Journal of Human Genetics, Published online: 15 November 2021; doi:10.1038/s41431-021-00998-4Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - November 15, 2021 Category: Genetics & Stem Cells Authors: Anne-Sophie Denomm é-Pichon Antonio Vitobello Robert Olaso Alban Ziegler M édéric Jeanne Fr édéric Tran Mau-Them Victor Couturier Caroline Racine Bertrand Isidor Charlotte Po ë Thibaud Jouan Anne Boland Bertrand Fin Delphine Bacq-Daian C éline Bess Source Type: research

Taking seriousness seriously in genomic health
European Journal of Human Genetics, Published online: 15 November 2021; doi:10.1038/s41431-021-01002-9Taking seriousness seriously in genomic health (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - November 15, 2021 Category: Genetics & Stem Cells Authors: Ainsley J. Newson Lisa Dive Source Type: research

Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health
European Journal of Human Genetics, Published online: 15 November 2021; doi:10.1038/s41431-021-00966-yAttitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - November 15, 2021 Category: Genetics & Stem Cells Authors: Jarle Johannessen Terje N ærland Sigrun Hope Tonje Torske Anett Kaale Katrine V. Wirgenes Eva Malt Srdjan Djurovic Marcella Rietschel Ole A. Andreassen Source Type: research

DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients
European Journal of Human Genetics, Published online: 15 November 2021; doi:10.1038/s41431-021-00999-3DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - November 15, 2021 Category: Genetics & Stem Cells Authors: Shira Yanovsky-Dagan Eliora Cohen Pauline Megalli Gheona Altarescu Oshrat Schonberger Talia Eldar-Geva Silvina Epsztejn-Litman Rachel Eiges Source Type: research

Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency
European Journal of Human Genetics, Published online: 12 November 2021; doi:10.1038/s41431-021-00995-7Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - November 12, 2021 Category: Genetics & Stem Cells Authors: Bushra Al Shamsi Fathiya Al Murshedi Asila Al Habsi Khalid Al-Thihli Source Type: research

Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability
European Journal of Human Genetics, Published online: 08 November 2021; doi:10.1038/s41431-021-00968-wBiallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - November 8, 2021 Category: Genetics & Stem Cells Authors: Amama Ghaffar Faiza Rasheed Muhammad Rashid Hans van Bokhoven Zubair M. Ahmed Sheikh Riazuddin Saima Riazuddin Source Type: research

Rapid genomic testing for critically ill children: time to become standard of care?
European Journal of Human Genetics, Published online: 08 November 2021; doi:10.1038/s41431-021-00990-yRapid genomic testing for critically ill children: time to become standard of care? (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - November 8, 2021 Category: Genetics & Stem Cells Authors: Zornitza Stark Sian Ellard Source Type: research

Combining callers improves the detection of copy number variants from whole-genome sequencing
European Journal of Human Genetics, Published online: 08 November 2021; doi:10.1038/s41431-021-00983-xCombining callers improves the detection of copy number variants from whole-genome sequencing (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - November 8, 2021 Category: Genetics & Stem Cells Authors: Marie Coutelier Manuel Holtgrewe Marten J äger Ricarda Fl öttman Martin A. Mensah Malte Spielmann Peter Krawitz Denise Horn Dieter Beule Stefan Mundlos Source Type: research

Development and use of the Australian reproductive genetic carrier screening decision aid
European Journal of Human Genetics, Published online: 01 November 2021; doi:10.1038/s41431-021-00991-xDevelopment and use of the Australian reproductive genetic carrier screening decision aid (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - November 1, 2021 Category: Genetics & Stem Cells Authors: Emily King Jane Halliday Alison D. Archibald Martin Delatycki Kristine Barlow-Stewart Ainsley J. Newson Belinda J. McClaren Source Type: research

Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis
European Journal of Human Genetics, Published online: 01 November 2021; doi:10.1038/s41431-021-00988-6Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - November 1, 2021 Category: Genetics & Stem Cells Authors: William B. Barrell Hadeel Adel Al-Lami Jacqueline A. C. Goos Sigrid M. A. Swagemakers Marieke van Dooren Elena Torban Peter J. van der Spek Irene M. J. Mathijssen Karen J. Liu Source Type: research

An all-encompassing variant classification system proposed
European Journal of Human Genetics, Published online: 29 October 2021; doi:10.1038/s41431-021-00992-wAn all-encompassing variant classification system proposed (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 29, 2021 Category: Genetics & Stem Cells Authors: Philippe M. Campeau Source Type: research

Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes
European Journal of Human Genetics, Published online: 28 October 2021; doi:10.1038/s41431-021-00977-9Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 28, 2021 Category: Genetics & Stem Cells Authors: Elena J. Tucker Katrina M. Bell Gorjana Robevska Jocelyn van den Bergen Katie L. Ayers Nurin Listyasari Sultana MH Faradz J érôme Dulon Shabnam Bakhshalizadeh Rajini Sreenivasan Benedicte Nouyou Wilfrid Carre Linda Akloul Sol ène Duros Mathilde Domin-B Source Type: research

Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome –a nationwide cohort study
European Journal of Human Genetics, Published online: 28 October 2021; doi:10.1038/s41431-021-00989-5Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome –a nationwide cohort study (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 28, 2021 Category: Genetics & Stem Cells Authors: Mette Hansen Viuff Kirstine Stochholm Svend Juul Claus H øjbjerg Gravholt Source Type: research

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum
European Journal of Human Genetics, Published online: 28 October 2021; doi:10.1038/s41431-021-00985-9ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 28, 2021 Category: Genetics & Stem Cells Authors: Ange-Line Bruel Antonio Vitobello Isabelle Thiffault Linda Manwaring Marcia Willing Pankaj B. Agrawal Allan Bayat Thomas M. Kitzler Catherine A. Brownstein Casie A. Genetti Joseph Gonzalez-Heydrich Parul Jayakar Jacob W. Zyskind Zehua Zhu Clemence Vachet Source Type: research

Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals
European Journal of Human Genetics, Published online: 25 October 2021; doi:10.1038/s41431-021-00964-0Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - October 25, 2021 Category: Genetics & Stem Cells Authors: Vyne van der Schoot Lonneke Haer-Wigman Ilse Feenstra Femke Tammer Anke J. M. Oerlemans Martine P. A. van Koolwijk Frans van Agt Yvonne H. J. M. Arens Han G. Brunner Lisenka E. L. M. Vissers Helger G. Yntema Source Type: research