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

Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals

JOURNAL ARTICLE published 30 January 2024 in Journal of Medical Genetics

Research funded by Dutch Research Council (015.014.036,1160.18.320) | Netherlands Organisation for Health Research and Development (10250022110003,91718310) | National Health and Medical Research Council (1105008,1195955,2015727,2022156) | Australian Research Council (220100253) | National Institutes of Health/National Institutes of Neurological Disorders and Stroke (K23NS119666)

Authors: Lottie D. Morison | Milou G.P. Kennis | Dmitrijs Rots | Arianne Bouman | Joost Kummeling | Elizabeth Palmer | Adam P. Vogel | Frederique Liegeois | Amanda Brignell | Siddharth Srivastava | Zoe Frazier | Di Milnes | Himanshu Goel | David J. Amor | Ingrid E. Scheffer | Tjitske Kleefstra | Angela T. Morgan

Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study

JOURNAL ARTICLE published June 2022 in Journal of Medical Genetics

Authors: Ahmed S N Alhendi | Derek Lim | Shane McKee | Meriel McEntagart | Katriona Tatton-Brown | I Karen Temple | Justin H Davies | Deborah J G Mackay

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

Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy

JOURNAL ARTICLE published November 2021 in Journal of Medical Genetics

Research funded by Ministero dell'Istruzione, dell'Università e della Ricerca (PRIN 2015 JHLY35) | Università degli Studi della Campania Luigi Vanvitelli (Programma VALERE project MIRIAM) | Regione Campania (Progetti per la ricerca oncologica della Regione C) | Associazione Italiana per la Ricerca sul Cancro (IG18671) | Fondazione Telethon (GGP15131)

Authors: Nayeralsadat Fatemi | Najmeh Salehi | Laura Pignata | Pietro Palumbo | Maria Vittoria Cubellis | Fariba Ramazanali | Pierre Ray | Maryam Varkiani | Fakhreddin Reyhani-Sabet | Alireza Biglari | Angela Sparago | Basilia Acurzio | Orazio Palumbo | Massimo Carella | Andrea Riccio | Mehdi Totonchi

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

MG-134 Update on novel treatments for pyridoxine-dependent epilepsy due to antiquitin deficiency

JOURNAL ARTICLE published November 2015 in Journal of Medical Genetics

Authors: Clara DM van Karnebeek | W Al-Hertani | S Jaggumantri | C Coughlin | S Stockler | H Hans Hartmann | J Van Hove

CDKN1Chyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inheritedKCNQ1OT1:TSS-DMR

JOURNAL ARTICLE published December 2022 in Journal of Medical Genetics

Research funded by National Center for Child Health and Development (2019B-4) | Japan Agency for Medical Research and Development (20ek0109373h0003)

Authors: Kaori Hara-Isono | Kazuki Yamazawa | Satsuki Tanaka | Eriko Nishi | Maki Fukami | Masayo Kagami

Editorial: JMG in 2021

JOURNAL ARTICLE published February 2021 in Journal of Medical Genetics

Authors: Huw Dorkins

MG-142 Improved motor function with 5-hydroxytryptophan in a family with systemic serotonin deficiency, hemiplegic migraines and neurodegenerative course

JOURNAL ARTICLE published November 2015 in Journal of Medical Genetics

Authors: GA Horvath | R Ye | S Stockler-Ipsiroglu | PJ Waters | RD Blakely | M Coulter-Mackie

Further characterisation ofARX-related disorders in females due to inherited or de novo variants

JOURNAL ARTICLE published February 2024 in Journal of Medical Genetics

Authors: Mathilde Gras | Solveig Heide | Boris Keren | Stéphanie Valence | Catherine Garel | Sandra Whalen | Anna C Jansen | Kathelijn Keymolen | Katrien Stouffs | Mélanie Jennesson | Céline Poirsier | Gaetan Lesca | Christel Depienne | Caroline Nava | Agnès Rastetter | Aurore Curie | Laurence Cuisset | Vincent Des Portes | Mathieu Milh | Perrine Charles | Cyril Mignot | Delphine Héron

A genome-wide interaction analysis of tricyclic/tetracyclic antidepressants and RR and QT intervals: a pharmacogenomics study from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium

JOURNAL ARTICLE published May 2017 in Journal of Medical Genetics

Authors: Raymond Noordam | Colleen M Sitlani | Christy L Avery | James D Stewart | Stephanie M Gogarten | Kerri L Wiggins | Stella Trompet | Helen R Warren | Fangui Sun | Daniel S Evans | Xiaohui Li | Jin Li | Albert V Smith | Joshua C Bis | Jennifer A Brody | Evan L Busch | Mark J Caulfield | Yii-Der I Chen | Steven R Cummings | L Adrienne Cupples | Qing Duan | Oscar H Franco | Rául Méndez-Giráldez | Tamara B Harris | Susan R Heckbert | Diana van Heemst | Albert Hofman | James S Floyd | Jan A Kors | Lenore J Launer | Yun Li | Ruifang Li-Gao | Leslie A Lange | Henry J Lin | Renée de Mutsert | Melanie D Napier | Christopher Newton-Cheh | Neil Poulter | Alexander P Reiner | Kenneth M Rice | Jeffrey Roach | Carlos J Rodriguez | Frits R Rosendaal | Naveed Sattar | Peter Sever | Amanda A Seyerle | P Eline Slagboom | Elsayed Z Soliman | Nona Sotoodehnia | David J Stott | Til Stürmer | Kent D Taylor | Timothy A Thornton | André G Uitterlinden | Kirk C Wilhelmsen | James G Wilson | Vilmundur Gudnason | J Wouter Jukema | Cathy C Laurie | Yongmei Liu | Dennis O Mook-Kanamori | Patricia B Munroe | Jerome I Rotter | Ramachandran S Vasan | Bruce M Psaty | Bruno H Stricker | Eric A Whitsel

15q11.2 deletion is enriched in patients with total anomalous pulmonary venous connection

JOURNAL ARTICLE published February 2021 in Journal of Medical Genetics

Authors: Xiaoliang Li | Guocheng Shi | Yang Li | Xiaoqing Zhang | Ying Xiang | Teng Wang | Yanxin Li | Huiwen Chen | Qihua Fu | Hong Zhang | Bo Wang

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

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