Open access

Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition

Angela Peron, Maria Paola Canevini, Filippo Ghelma, Rosangela Arancio, Miriam Nella Savini, Aglaia Vignoli

10.1136/jmedgenet-2020-107333

October 26, 2020

A germline 1;3 translocation disrupting the VHL gene: a novel genetic cause for von Hippel-Lindau

Christopher J Ricketts, Cathy D Vocke, Martin Lang, Xiongfong Chen, Yongmei Zhao, Bao Tran, Mayank Tandon, Laura S Schmidt, Mark W Ball, W Marston Linehan

10.1136/jmedgenet-2020-107308

October 16, 2020

CRISPR–Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes

Tom Walsh, Silvia Casadei, Katherine M Munson, Mary Eng, Jessica B Mandell, Suleyman Gulsuner, Mary-Claire King

10.1136/jmedgenet-2020-107320

October 15, 2020

Blood functional assay for rapid clinical interpretation of germline TP53 variants

Sabine Raad, Marion Rolain, Sophie Coutant, Céline Derambure, Raphael Lanos, Françoise Charbonnier, Jacqueline Bou, Emilie Bouvignies, Gwendoline Lienard, Stéphanie Vasseur, Michael Farrell, Olivier Ingster, Stéphanie Baert Desurmont, Edwige Kasper, Gaëlle Bougeard, Thierry Frébourg, Isabelle Tournier

10.1136/jmedgenet-2020-107059

October 13, 2020

Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma

Thomas P Potjer, Tara W J van der Grinten, Inge M M Lakeman, Sander H Bollen, Mar Rodríguez-Girondo, Mark M Iles, Jennifer H Barrett, Lambertus A Kiemeney, Nelleke A Gruis, Christi J van Asperen, Nienke van der Stoep

10.1136/jmedgenet-2020-107251

September 29, 2020

Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy

Justine Géraud, Klaus Dieterich, John Rendu, Emmanuelle Uro Coste, Murielle Dobrzynski, Pascale Marcorelle, Christine Ioos, Norma Beatriz Romero, Eloise Baudou, Julie Brocard, Anne-Cécile Coville, Julien Fauré, Michel Koenig, Raul Juntas Morales, Emmanuelle Lacène, Angéline Madelaine, Isabelle Marty, Henri Pegeot, Corinne Theze, Aurore Siegfried, Mireille Cossee, Claude Cances

10.1136/jmedgenet-2019-106714

September 29, 2020

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

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

10.1136/jmedgenet-2020-106909

September 16, 2020

De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes

Dana Jaber, Cyril Gitiaux, Sophie Blesson, Florent Marguet, David Buard, Maritzaida Varela Salgado, Anna Kaminska, Julien Saada, Catherine Fallet-Bianco, Jelena Martinovic, Annie Laquerriere, Judith Melki

10.1136/jmedgenet-2020-107166

September 14, 2020

Low tolerance for transcriptional variation at cohesin genes is accompanied by functional links to disease-relevant pathways

William Schierding, Julia A Horsfield, Justin M O'Sullivan

10.1136/jmedgenet-2020-107095

September 11, 2020

Assessment of mismatch repair deficiency in ovarian cancer

Emma J Crosbie, Neil A J Ryan, Rhona J McVey, Fiona Lalloo, Naomi Bowers, Kate Green, Emma R Woodward, Tara Clancy, James Bolton, Andrew J Wallace, Raymond F McMahon, D Gareth Evans

10.1136/jmedgenet-2020-107270

September 11, 2020