Advances in genetic technologies result in improved diagnosis of mismatch repair deficiency in colorectal and endometrial cancers

JOURNAL ARTICLE published April 2022 in Journal of Medical Genetics

Research funded by Research Trainees Coordinating Centre (NIHR-CS-012-009) | National Institute for Health Research (IS-BRC-1215-20007,NF-SI-0513-10076) | Medical Research Council (MR/M018431/1)

Authors: D Gareth Evans | Fiona Lalloo | Neil AJ Ryan | Naomi Bowers | Kate Green | Emma R Woodward | Tara Clancy | James Bolton | Rhona J McVey | Andrew J Wallace | Katy Newton | James Hill | Raymond McMahon | Emma J Crosbie

Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome

JOURNAL ARTICLE published 1 December 1999 in Journal of Medical Genetics

Authors: Thomas C Hart | P Suzanne Hart | Donald W Bowden | Michael D Michalec | Scott A Callison | Steve J Walker | Yingze Zhang | Erhan Firatli

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

Correction

JOURNAL ARTICLE published 1 August 2011 in Journal of Medical Genetics

MG-144 When rare happens: Characterising atypical breakpoints in CML

JOURNAL ARTICLE published November 2015 in Journal of Medical Genetics

Authors: Sean Young | Darko Curman | Aly Karsan | Elaine Law | Mohamed Elemary | Haji Chalchal | Mirjana Zarkovic

Identification of well-differentiated gene expressions between Han Chinese and Japanese using genome-wide microarray data analysis

JOURNAL ARTICLE published August 2013 in Journal of Medical Genetics

Authors: Yuan Yuan | Ling Yang | Meng Shi | Dongsheng Lu | Haiyi Lou | Yi-Ping Phoebe Chen | Li Jin | Shuhua Xu

Phenotype-genotype correlation in a familial IGF1R microdeletion case

JOURNAL ARTICLE published 1 July 2010 in Journal of Medical Genetics

Authors: D. C. M. Veenma | H. J. Eussen | L. C. P. Govaerts | S. W. K. de Kort | R. J. Odink | C. H. Wouters | A. C. S. Hokken-Koelega | A. de Klein

Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2

JOURNAL ARTICLE published 1 July 2009 in Journal of Medical Genetics

Authors: P Laissue | B Lakhal | B A Benayoun | A Dipietromaria | R Braham | H Elghezal | P Philibert | A Saad | C Sultan | M Fellous | R A Veitia

Identification of a novelDLX5mutation in a family with autosomal recessive split hand and foot malformation

JOURNAL ARTICLE published January 2012 in Journal of Medical Genetics

Authors: Hanan E Shamseldin | Maha A Faden | Walid Alashram | Fowzan S Alkuraya

Correction: SETD1B-associated neurodevelopmental disorder

JOURNAL ARTICLE published 17 August 2022 in Journal of Medical Genetics

MG-125 CYP21A2 mutation spectrum in congenital adrenal hyperplasia identified from molecular genetic testing

JOURNAL ARTICLE published November 2015 in Journal of Medical Genetics

Authors: Yanwei Xi | Jillian Parboosingh | Heather Johnson | Lisa Graham | Ryan Lamont

MG-121 Five new patients with pure distal 1q trisomy, review of the literature and phenotype redefinition

JOURNAL ARTICLE published November 2015 in Journal of Medical Genetics

Authors: Catalina Maftei | Anne-Marie Laberge | Bruno Maranda | Grant Mitchell | Sonia Nizard | Frédérique Tihy | Emmanuelle Lemyre

Heterozygous deletion ofHOXC10-HOXC9causes lower limb abnormalities in congenital vertical talus

JOURNAL ARTICLE published 31 January 2024 in Journal of Medical Genetics

Research funded by Health Commission of Shanxi Province (2021014)

Authors: Liheng Chen | Shuoyang Zhao | Wenxia Song | Lihong Wang | Zerong Yao | Jianfei Gao | Xiaoze Li

Improved sensitivity for detection of pathogenic variants in familialNF2-related schwannomatosis

JOURNAL ARTICLE published 1 February 2024 in Journal of Medical Genetics

Research funded by USAMRAA CDMRP Neurofibromatosis Research Program (W81XWH1910334) | Manchester National Institute for Health Research (NIHR) Biomedical Research Centre (IS- BRC-1215-20007)

Authors: Cristina Perez-Becerril | George J Burghel | Claire Hartley | Charles F Rowlands | D Gareth Evans | Miriam J Smith

The impact of a panel of 18 SNPs on breast cancer risk in women attending a UK familial screening clinic: a case–control study

JOURNAL ARTICLE published February 2017 in Journal of Medical Genetics

Authors: D Gareth Evans | Adam Brentnall | Helen Byers | Elaine Harkness | Paula Stavrinos | Anthony Howell | William G Newman | Jack Cuzick | FH-risk study Group

Information for genetic management of mtDNA disease: sampling pathogenic mtDNA mutants in the human germline and in placenta

JOURNAL ARTICLE published 1 April 2010 in Journal of Medical Genetics

Authors: D. Marchington | S. Malik | A. Banerjee | K. Turner | D. Samuels | V. Macaulay | P. Oakeshott | C. Fratter | S. Kennedy | J. Poulton

The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness

JOURNAL ARTICLE published December 2022 in Journal of Medical Genetics

Authors: David Hessl | Hilary Rosselot | Robert Miller | Glenda Espinal | Jessica Famula | Stephanie L Sherman | Peter K Todd | Ana Maria Cabal Herrera | Karen Lipworth | Jonathan Cohen | Deborah A Hall | Maureen Leehey | Jim Grigsby | Jayne Dixon Weber | Sundus Alusi | Anne Wheeler | Melissa Raspa | Tamaro Hudson | Sonya K Sobrian

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

Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease

JOURNAL ARTICLE published May 2022 in Journal of Medical Genetics

Research funded by Agence Nationale (ANR-12-JVS1-0002)

Authors: Angèle Tingaud-Sequeira | Aurélien Trimouille | Thomas Sagardoy | Didier Lacombe | Caroline Rooryck

Investigating the genetic susceptibility to exertional heat illness

JOURNAL ARTICLE published August 2020 in Journal of Medical Genetics

Research funded by Colt Foundation (PhD studentship) | National Institute of Arthritis and Musculoskeletal and Skin Diseases (2P01 AR-05235)

Authors: Lois Gardner | Dorota M Miller | Catherine Daly | Pawan K Gupta | Carol House | Daniel Roiz de Sa | Marie-Anne Shaw | Philip M Hopkins