FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum

JOURNAL ARTICLE published November 2022 in Journal of Medical Genetics

Research funded by National Heart, Lung, and Blood Institute (UM1 HG008900) | National Human Genome Research Institute (R01 HG009141) | NHMRC (APP1122952,APP2002640)

Authors: Magdalena Mroczek | Cheryl Longman | Maria Elena Farrugia | Solange Kapetanovic Garcia | Didem Ardicli | Haluk Topaloglu | Aurelio Hernández-Laín | Diclehan Orhan | Mehmet Alikasifoglu | Jennifer Duff | Sabine Specht | Kristen Nowak | Gianina Ravenscroft | Katherine Chao | Zaheer Valivullah | Sandra Donkervoort | Dimah Saade | Carsten Bönnemann | Volker Straub | Grace Yoon

Rare variants in XRCC2 as breast cancer susceptibility alleles: Table 1

JOURNAL ARTICLE published October 2012 in Journal of Medical Genetics

Authors: Florentine S Hilbers | Juul T Wijnen | Nicoline Hoogerbrugge | Jan C Oosterwijk | Margriet J Collee | Paolo Peterlongo | Paolo Radice | Siranoush Manoukian | Irene Feroce | Fabio Capra | Fergus J Couch | Xianshu Wang | Lucia Guidugli | Kenneth Offit | Sohela Shah | Ian G Campbell | Ella R Thompson | Paul A James | Alison H Trainer | Javier Gracia | Javier Benitez | Christi J van Asperen | Peter Devilee

Whole genome sequence-based haplotypes reveal a single origin of the 1393 bp HBB deletion

JOURNAL ARTICLE published August 2020 in Journal of Medical Genetics

Authors: Xunde Wang | Julia Z Xu | Anna Conrey | Laurel Mendelsohn | Daniel Shriner | Mehdi Pirooznia | Swee Lay Thein

Change in stage distribution observed with annual screening for ovarian cancer in BRCA carriers

JOURNAL ARTICLE published 1 June 2009 in Journal of Medical Genetics

Authors: R Manchanda | A Rosenthal | M Burnell | L Fraser | J Mackay | S Skates

ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity

JOURNAL ARTICLE published August 2022 in Journal of Medical Genetics

Authors: Simone Gana | Antonella Casella | Sara Cociglio | Elena Tartara | Elisa Rognone | Elisa Giorgio | Anna Pichiecchio | Simona Orcesi | Enza Maria Valente

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1

JOURNAL ARTICLE published February 2022 in Journal of Medical Genetics

Research funded by Barncancerfonden (PR2019-0027) | The Hållsten Research Foundation (2020) | Vetenskapsrådet (R01 2018-02652) | Berth von Kantzow’s foundation (2020) | Cancerfonden (K131519193) | Radiumhemmets Forskningsfonder (R01 141312)

Authors: Emeli Pontén | Sofia Frisk | Fulya Taylan | Raquel Vaz | Sandra Wessman | Leanne de Kock | Niklas Pal | William D Foulkes | Kristina Lagerstedt-Robinson | Ann Nordgren

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum

JOURNAL ARTICLE published 1 May 2009 in Journal of Medical Genetics

Authors: C Crimella | A Arnoldi | F Crippa | M L Mostacciuolo | F Boaretto | M Sironi | M G. D'Angelo | S Manzoni | L Piccinini | A C Turconi | A Toscano | O Musumeci | S Benedetti | R Fazio | N Bresolin | A Daga | A Martinuzzi | M T Bassi

Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?

JOURNAL ARTICLE published February 2022 in Journal of Medical Genetics

Authors: Alessandra Pennisi | Agnès Rötig | Charles-Joris Roux | Raphaël Lévy | Marco Henneke | Jutta Gärtner | Pelin Teke Kisa | Fatma Ceren Sarioglu | Uluç Yiş | Laura L Konczal | Deepika D Burkardt | Sulin Wu | Pauline Gaignard | Claude Besmond | Laurence Hubert | Marlène Rio | Giulia Barcia | Arnold Munnich | Nathalie Boddaert | Manuel Schiff

Identifying novel oncogenic RET mutations and characterising their sensitivity to RET-specific inhibitors

JOURNAL ARTICLE published February 2021 in Journal of Medical Genetics

Authors: Zheng Zhao | Tao Fu | Jiyue Gao | Yang Xu | Xue Wu | Wenjuan Chen | Xuesong Li | Ruoying Yu | Yang Washington Shao | Man Li | Yu Yao

Long-term tumour dormancy in aBRCA1heterozygote

JOURNAL ARTICLE published January 2023 in Journal of Medical Genetics

Research funded by Canadian Institutes of Health Research (FDN-148390)

Authors: Setor Amuzu | Lili Fu | Nadine Demko | Barbara Rivera | Celine Domecq | Leanne de Kock | Nancy Hamel | Lucy Gilbert | Paz Polak | Jiannis Ragoussis | William D Foulkes

Correction

JOURNAL ARTICLE published December 2015 in Journal of Medical Genetics

Accurate quantification of chromosomal lesions via short tandem repeat analysis using minimal amounts of DNA

JOURNAL ARTICLE published September 2017 in Journal of Medical Genetics

Authors: Johann-Christoph Jann | Daniel Nowak | Florian Nolte | Stephanie Fey | Verena Nowak | Julia Obländer | Jovita Pressler | Iris Palme | Christina Xanthopoulos | Alice Fabarius | Uwe Platzbecker | Aristoteles Giagounidis | Katharina Götze | Anne Letsch | Detlef Haase | Richard Schlenk | Gesine Bug | Michael Lübbert | Arnold Ganser | Ulrich Germing | Claudia Haferlach | Wolf-Karsten Hofmann | Maximilian Mossner

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders

JOURNAL ARTICLE published February 2022 in Journal of Medical Genetics

Research funded by Wellcome (102731) | NIHR UK Rare Genetic Disease Research Consortium, the MRC through the WIMM Strategic Alliance (G0902418 and MC UU 12025) | AFM (17406) | NIH/NIDCR (5R01DE018227) | FAPESP/CEPID (2013/08028-1 and 303712/2016-3)

Authors: Eduardo Calpena | Maud Wurmser | Simon J McGowan | Rodrigo Atique | Débora R Bertola | Michael L Cunningham | Jonas A Gustafson | David Johnson | Jenny E V Morton | Maria Rita Passos-Bueno | Andrew T Timberlake | Richard P Lifton | Steven A Wall | Stephen R F Twigg | Pascal Maire | Andrew O M Wilkie

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

A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing

JOURNAL ARTICLE published 1 September 2011 in Journal of Medical Genetics

Authors: J. Majewski | Z. Wang | I. Lopez | S. Al Humaid | H. Ren | J. Racine | A. Bazinet | G. Mitchel | N. Braverman | R. K. Koenekoop

Comprehensive genomic analyses associateUGT8variants with musical ability in a Mongolian population

JOURNAL ARTICLE published December 2012 in Journal of Medical Genetics

Authors: Hansoo Park | Seungbok Lee | Hyun-Jin Kim | Young Seok Ju | Jong-Yeon Shin | Dongwan Hong | Marcin von Grotthuss | Dong-Sung Lee | Changho Park | Jennifer Hayeon Kim | Boram Kim | Yun Joo Yoo | Sung-Il Cho | Joohon Sung | Charles Lee | Jong-Il Kim | Jeong-Sun Seo

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

Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders

JOURNAL ARTICLE published July 2022 in Journal of Medical Genetics

Authors: Anushree Acharya | Haluk Kavus | Patrick Dunn | Abdul Nasir | Leandra Folk | Kara Withrow | Ingrid M. Wentzensen | Maura R. Z. Ruzhnikov | Camille Fallot | Thomas Smol | Mélanie Rama | Kathleen Brown | Sandra Whalen | Alban Ziegler | Magali Barth | Anna Chassevent | Constance Smith-Hicks | Alexandra Afenjar | Thomas Courtin | Solveig Heide | Esperanza Font-Montgomery | Caleb Heid | J. Austin Hamm | Donald R. Love | Farouq Thabet | Vinod K. Misra | Mitch Cunningham | Suzanne M. Leal | Irma Jarvela | Elizabeth A. Normand | Fanggeng Zou | Mayada Helal | Boris Keren | Erin Torti | Wendy K. Chung | Isabelle Schrauwen

Comprehensive somatic genome alterations of urachal carcinoma

JOURNAL ARTICLE published August 2017 in Journal of Medical Genetics

Authors: Seungchul Lee | Jingu Lee | Sung Hoon Sim | Yeonghun Lee | Kyung Chul Moon | Cheol Lee | Woong-Yang Park | Nayoung KD Kim | Se-Hoon Lee | Hyunju Lee

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