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Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas families

JOURNAL ARTICLE published May 1999 in European Journal of Human Genetics

Authors: Sophie Laberge | Pierre Labauge | Emmanuelle Maréchal | Jacqueline Maciazek | Elisabeth Tournier-Lasserve

https://doi.org/10.1038/sj.ejhg.5200324 Actions

The peopling of Greenland: further insights from the analysis of genetic diversity using autosomal and X-chromosomal markers

JOURNAL ARTICLE published February 2015 in European Journal of Human Genetics

Authors: Vania Pereira | Carmen Tomas | Juan J Sanchez | Denise Syndercombe-Court | António Amorim | Leonor Gusmão | Maria João Prata | Niels Morling

https://doi.org/10.1038/ejhg.2014.90 Actions

Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

JOURNAL ARTICLE published August 2012 in European Journal of Human Genetics

Authors: Helen AL Tuppen | Karin Naess | Nancy G Kennaway | Mazhor Al-Dosary | Nicole Lesko | John W Yarham | Helene Bruhn | Rolf Wibom | Inger Nennesmo | Richard G Weleber | Emma L Blakely | Robert W Taylor | Robert McFarland

https://doi.org/10.1038/ejhg.2012.44 Actions

TBL1Y: a new gene involved in syndromic hearing loss

JOURNAL ARTICLE published March 2019 in European Journal of Human Genetics

Authors: Mariateresa Di Stazio | Chiara Collesi | Diego Vozzi | Wei Liu | Mike Myers | Anna Morgan | Pio Adamo D′Adamo | Giorgia Girotto | Elisa Rubinato | Mauro Giacca | Paolo Gasparini

https://doi.org/10.1038/s41431-018-0282-4 Actions

Evidence for both copy number and allelic (NA1/NA2) risk at the FCGR3B locus in systemic lupus erythematosus

JOURNAL ARTICLE published September 2010 in European Journal of Human Genetics

Authors: David L Morris | Amy L Roberts | Abigail S Witherden | Ruth Tarzi | Paula Barros | John C Whittaker | Terence H Cook | Timothy J Aitman | Timothy J Vyse

https://doi.org/10.1038/ejhg.2010.56 Actions

New genetic evidence supports isolation and drift in the Ladin communities of the South Tyrolean Alps but not an ancient origin in the Middle East

JOURNAL ARTICLE published January 2008 in European Journal of Human Genetics

Authors: Mark G Thomas | Ian Barnes | Michael E Weale | Abigail L Jones | Peter Forster | Neil Bradman | Peter P Pramstaller

https://doi.org/10.1038/sj.ejhg.5201906 Actions

Subdividing Y-chromosome haplogroup R1a1 reveals Norse Viking dispersal lineages in Britain

JOURNAL ARTICLE published March 2021 in European Journal of Human Genetics

Research funded by Wellcome Trust (087576,057559,084060,087576,087576,087576,057559,072974,088262,098051,072974,088262) | British Heart Foundation (PG/16/49/32176,PG/16/49/32176) | Leverhulme Trust (F/00 212/AM,F/00 212/AM,F/00 212/AM)

Authors: Gurdeep Matharu Lall | Maarten H. D. Larmuseau | Jon H. Wetton | Chiara Batini | Pille Hallast | Tunde I. Huszar | Daniel Zadik | Sigurd Aase | Tina Baker | Patricia Balaresque | Walter Bodmer | Anders D. Børglum | Peter de Knijff | Hayley Dunn | Stephen E. Harding | Harald Løvvik | Berit Myhre Dupuy | Horolma Pamjav | Andreas O. Tillmar | Maciej Tomaszewski | Chris Tyler-Smith | Marta Pereira Verdugo | Bruce Winney | Pragya Vohra | Joanna Story | Turi E. King | Mark A. Jobling

https://doi.org/10.1038/s41431-020-00747-z Actions

Genomics elucidates both common and rare disease aetiology

JOURNAL ARTICLE published December 2021 in European Journal of Human Genetics

Authors: Alisdair McNeill

https://doi.org/10.1038/s41431-021-01001-w Actions

Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy

JOURNAL ARTICLE published May 2017 in European Journal of Human Genetics

Authors: Francesco Testa | Mariaelena Filippelli | Raffaella Brunetti-Pierri | Giuseppina Di Fruscio | Valentina Di Iorio | Mariateresa Pizzo | Annalaura Torella | Maria Rosaria Barillari | Vincenzo Nigro | Nicola Brunetti-Pierri | Francesca Simonelli | Sandro Banfi

https://doi.org/10.1038/ejhg.2017.23 Actions

Estimation of the number of inherited prion disease mutation carriers in the UK

JOURNAL ARTICLE published October 2022 in European Journal of Human Genetics

Authors: Rosie Corbie | Tracy Campbell | Lee Darwent | Peter Rudge | John Collinge | Simon Mead

https://doi.org/10.1038/s41431-022-01132-8 Actions

Influence of TIMP3/SYN3 polymorphisms on the phenotypic presentation of age-related macular degeneration

JOURNAL ARTICLE published October 2013 in European Journal of Human Genetics

Authors: Daniel Ardeljan | Catherine B Meyerle | Elvira Agron | Jie Jin Wang | Paul Mitchell | Emily Y Chew | Jing Zhao | Arvydas Maminishkis | Chi-Chao Chan | Jingsheng Tuo

https://doi.org/10.1038/ejhg.2013.14 Actions

Transmission ratio distortion and maternal effects confound the analysis of modulators of cystic fibrosis disease severity on 19q13

JOURNAL ARTICLE published July 2007 in European Journal of Human Genetics

Authors: Tim Becker | Silke Jansen | Stephanie Tamm | Thomas F Wienker | Burkhard Tümmler | Frauke Stanke

https://doi.org/10.1038/sj.ejhg.5201825 Actions

Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content

JOURNAL ARTICLE published March 2016 in European Journal of Human Genetics

Authors: Claudio Asencio | María A Rodríguez-Hernandez | Paz Briones | Julio Montoya | Ana Cortés | Sonia Emperador | Angela Gavilán | Eduardo Ruiz-Pesini | Dèlia Yubero | Raquel Montero | Mercedes Pineda | María M O'Callaghan | María Alcázar-Fabra | Leonardo Salviati | Rafael Artuch | Plácido Navas

https://doi.org/10.1038/ejhg.2015.112 Actions

WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome

JOURNAL ARTICLE published December 2009 in European Journal of Human Genetics

Authors: Sadia Nawaz | Joakim Klar | Muhammad Wajid | Muhammad Aslam | Muhammad Tariq | Jens Schuster | Shahid Mahmood Baig | Niklas Dahl

https://doi.org/10.1038/ejhg.2009.81 Actions

Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example

JOURNAL ARTICLE published January 2008 in European Journal of Human Genetics

Authors: Sylvain Hanein | Isabelle Perrault | Sylvie Gerber | Nathalie Delphin | David Benezra | Stavit Shalev | Rivka Carmi | Josué Feingold | Jean-Louis Dufier | Arnold Munnich | Josseline Kaplan | Jean-Michel Rozet | Marc Jeanpierre

https://doi.org/10.1038/sj.ejhg.5201905 Actions

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

JOURNAL ARTICLE published June 2020 in European Journal of Human Genetics

Authors: Ivana Jedličková | The Adult NCL Gene Discovery Consortium | Maxime Cadieux-Dion | Anna Přistoupilová | Viktor Stránecký | Hana Hartmannová | Kateřina Hodaňová | Veronika Barešová | Helena Hůlková | Jakub Sikora | Lenka Nosková | Dita Mušálková | Petr Vyleťal | Jana Sovová | Patrick Cossette | Eva Andermann | Frederick Andermann | Stanislav Kmoch

https://doi.org/10.1038/s41431-019-0567-2 Actions

QTLs for height: results of a full genome scan in Dutch sibling pairs

JOURNAL ARTICLE published October 2004 in European Journal of Human Genetics

Authors: Gonneke Willemsen | Dorret I Boomsma | A Leo Beem | Jacqueline M Vink | P Eline Slagboom | Danielle Posthuma

https://doi.org/10.1038/sj.ejhg.5201229 Actions

Additional evidence to support the role of a common variant near the complement factor I gene in susceptibility to age-related macular degeneration

JOURNAL ARTICLE published June 2010 in European Journal of Human Genetics

Authors: Naoshi Kondo | Hiroaki Bessho | Shigeru Honda | Akira Negi

https://doi.org/10.1038/ejhg.2009.243 Actions

VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype

JOURNAL ARTICLE published September 2014 in European Journal of Human Genetics

Authors: Lucie Coppin | Claudine Grutzmacher | Michel Crépin | Evelyne Destailleur | Sophie Giraud | Catherine Cardot-Bauters | Nicole Porchet | Pascal Pigny

https://doi.org/10.1038/ejhg.2013.279 Actions

C6ORF97-ESR1 breast cancer susceptibility locus: influence on progression and survival in breast cancer patients

JOURNAL ARTICLE published July 2015 in European Journal of Human Genetics

Authors: Mutsuko Yamamoto-Ibusuki | Yutaka Yamamoto | Saori Fujiwara | Aiko Sueta | Satoko Yamamoto | Mitsuhiro Hayashi | Mai Tomiguchi | Takashi Takeshita | Hirotaka Iwase

https://doi.org/10.1038/ejhg.2014.219 Actions
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