2017 Thank you to our reviewers

JOURNAL ARTICLE published April 2018 in Journal of Medical Genetics

MG-141 A further report of paediatric cancer and cleidocranial dysplasia raises the possibility of a causative association of weak effect

JOURNAL ARTICLE published November 2015 in Journal of Medical Genetics

Authors: Anna Lehman | Edward Tseng | Michelle Ning | Zheyuan Zong | Seong-Hwan Jun

Correction 2:A commonSLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct

JOURNAL ARTICLE published 6 July 2023 in Journal of Medical Genetics

Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy

JOURNAL ARTICLE published April 2022 in Journal of Medical Genetics

Authors: Zhimei Liu | Li Zhang | Changhong Ren | Manting Xu | Shufang Li | Rui Ban | Ye Wu | Ling Chen | Suzhen Sun | Matthias Elstner | Masaru Shimura | Minako Ogawa-Tominaga | Kei Murayama | Tieliu Shi | Holger Prokisch | Fang Fang

Meiotic chromatid recombination and segregation assessed with human single cell genome sequencing data

JOURNAL ARTICLE published March 2019 in Journal of Medical Genetics

Authors: Jun-Yu Ma | Li-Ying Yan | Zhen-Bo Wang | Shi-Ming Luo | William S B Yeung | Xiang-Hong Ou | Qing-Yuan Sun | Jie Qiao

Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex

JOURNAL ARTICLE published September 2022 in Journal of Medical Genetics

Research funded by TSC Alliance (FY2020 TSC Alliance Postdoctoral Fellowship Award) | Engles Family Fund for Research in TSC and LAM (Engles Family Fund for Research in TSC and LAM)

Authors: Katarzyna Klonowska | Elizabeth A Thiele | Joannes M Grevelink | Aaron R Thorner | David J Kwiatkowski

Replacement of the myotonic dystrophy type 1 CTG repeat with 'non-CTG repeat' insertions in specific tissues

JOURNAL ARTICLE published 1 July 2011 in Journal of Medical Genetics

Authors: M. M. Axford | A. Lopez-Castel | M. Nakamori | C. A. Thornton | C. E. Pearson

Comprehensive RNA and protein functional assessments contribute to the clinical interpretation ofMSH2variants causing in-frame splicing alterations

JOURNAL ARTICLE published May 2023 in Journal of Medical Genetics

Research funded by Groupement des Entreprises Françaises dans la Lutte contre le Cancer (R18064EE)

Authors: Laëtitia Meulemans | Stéphanie Baert Desurmont | Marie-Christine Waill | Gaia Castelain | Audrey Killian | Julie Hauchard | Thierry Frebourg | Florence Coulet | Alexandra Martins | Martine Muleris | Pascaline Gaildrat

Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis

JOURNAL ARTICLE published July 2019 in Journal of Medical Genetics

Authors: Brooke Sadler | Gabe Haller | Lilian Antunes | Xavier Bledsoe | Jose Morcuende | Philip Giampietro | Cathleen Raggio | Nancy Miller | Yared Kidane | Carol A Wise | Ina Amarillo | Nephi Walton | Mark Seeley | Darren Johnson | Conner Jenkins | Troy Jenkins | Matthew Oetjens | R Spencer Tong | Todd E Druley | Matthew B Dobbs | Christina A Gurnett

Genotype–phenotype correlations and clinical outcomes of patients with von Hippel-Lindau disease with large deletions

JOURNAL ARTICLE published May 2023 in Journal of Medical Genetics

Research funded by National Natural Science Foundation of China (82141103)

Authors: Kenan Zhang | Wuping Yang | Kaifang Ma | Jianhui Qiu | Lei Li | Yawei Xu | Zedan Zhang | Chaojian Yu | Jingcheng Zhou | Yanqing Gong | Lin Cai | Kan Gong

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases

JOURNAL ARTICLE published January 2024 in Journal of Medical Genetics

Authors: Caroline Racine | Anne-Sophie Denommé-Pichon | Camille Engel | Frederic Tran Mau-them | Ange-Line Bruel | Antonio Vitobello | Hana Safraou | Arthur Sorlin | Sophie Nambot | Julian Delanne | Aurore Garde | Estelle Colin | Sébastien Moutton | Julien Thevenon | Nolwenn Jean-Marçais | Marjolaine Willems | David Geneviève | Lucile Pinson | Laurence Perrin | Fanny Laffargue | James Lespinasse | Elodie Lacaze | Arnaud Molin | Marion Gerard | Laetitia Lambert | Charlotte Benigni | Olivier Patat | Valentin Bourgeois | Charlotte Poe | Martin Chevarin | Victor Couturier | Philippine Garret | Christophe Philippe | Yannis Duffourd | Laurence Faivre | Christel Thauvin-Robinet | Orphanomix Physician's Group

Advances in identification of genes involved in autosomal recessive intellectual disability: a brief review

JOURNAL ARTICLE published September 2019 in Journal of Medical Genetics

Authors: Yaser Rafiq Mir | Raja Amir Hassan Kuchay

Deregulation of EIF4E: a novel mechanism for autism

JOURNAL ARTICLE published 1 November 2009 in Journal of Medical Genetics

Authors: M Neves-Pereira | B Muller | D Massie | J H G Williams | P C M O'Brien | A Hughes | S-B Shen | D. S. Clair | Z Miedzybrodzka

Mutations inciscan confound genotype-phenotype correlations in hypertrophic cardiomyopathy

JOURNAL ARTICLE published 1 June 2001 in Journal of Medical Genetics

Authors: Edward Blair | Simon J Price | Catherine J Baty | Ingegerd Östman-Smith | Hugh Watkins

Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort

JOURNAL ARTICLE published November 2018 in Journal of Medical Genetics

Authors: Iván Galván-Femenía | Mireia Obón-Santacana | David Piñeyro | Marta Guindo-Martinez | Xavier Duran | Anna Carreras | Raquel Pluvinet | Juan Velasco | Laia Ramos | Susanna Aussó | J M Mercader | Lluis Puig | Manuel Perucho | David Torrents | Victor Moreno | Lauro Sumoy | Rafael de Cid

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort

JOURNAL ARTICLE published November 2015 in Journal of Medical Genetics

Authors: N Lavoine | C Colas | M Muleris | S Bodo | A Duval | N Entz-Werle | F Coulet | O Cabaret | F Andreiuolo | C Charpy | G Sebille | Q Wang | S Lejeune | M P Buisine | D Leroux | G Couillault | G Leverger | J P Fricker | R Guimbaud | M Mathieu-Dramard | G Jedraszak | O Cohen-Hagenauer | L Guerrini-Rousseau | F Bourdeaut | J Grill | O Caron | S Baert-Dusermont | J Tinat | G Bougeard | T Frébourg | L Brugières

Prevalence of Fabry disease-causing variants in the UK Biobank

JOURNAL ARTICLE published April 2023 in Journal of Medical Genetics

Authors: Mark Gilchrist | Francesco Casanova | Jess S Tyrrell | Stuart Cannon | Andrew R Wood | Nicole Fife | Katherine Young | Richard A Oram | Michael N Weedon

SOX10: 20 years of phenotypic plurality and current understanding of its developmental function

JOURNAL ARTICLE published February 2022 in Journal of Medical Genetics

Research funded by Agence Nationale de la Recherche under the “Investissements d’avenir” program (ANR-10-IAHU-01) | Fondation Maladies Rares, and the European Union’s Horizon 2020 research and innovation programme under Marie Skłodowska-Curie grant agreement (Neucrest860635)

Authors: Veronique Pingault | Lisa Zerad | William Bertani-Torres | Nadege Bondurand

Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success

JOURNAL ARTICLE published February 2013 in Journal of Medical Genetics

Authors: Suzanne C E H Sallevelt | Joseph C F M Dreesen | Marion Drüsedau | Sabine Spierts | Edith Coonen | Florence H J van Tienen | Ronald J T van Golde | Irineus F M de Coo | Joep P M Geraedts | Christine E M de Die-Smulders | Hubert J M Smeets

Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia

JOURNAL ARTICLE published November 2023 in Journal of Medical Genetics

Research funded by Nederlandse Organisatie voor Wetenschappelijk Onderzoek ((NWO, 724.016.003).)

Authors: Nadra Samra | Nicolette S Jansen | Ilham Morani | Reli Rachel Kakun | Rinat Zaid | Tamar Paperna | Mario Garcia-Dominguez | Yuri Viner | Hilel Frankenthal | Eric S Shinwell | Igor Portnov | Doua Bakry | Adel Shalata | Mika Shapira Rootman | Dvora Kidron | Laura A Claessens | Ron A Wevers | Hanna Mandel | Alfred C O Vertegaal | Karin Weiss