Journal of Medical Genetics: 57 (4)

April 2020 - Volume 57 - 4

Cancer genetics

Review:
Risk of metastatic pheochromocytoma and paraganglioma in SDHx mutation carriers: a systematic review and updated meta-analysis
(24 October, 2019)
Hansong Lee, Seongdo Jeong, Yeuni Yu, Junho Kang, Hokeun Sun, Je-Keun Rhee, Yun Hak Kim
Original research:
Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY)
(12 November, 2019)
Elizabeth K Bancroft, Sibel Saya, Emma Brown, Sarah Thomas, Natalie Taylor, Jeanette Rothwell, Jennifer Pope, Anthony Chamberlain, Elizabeth Page, Sarah Benafif, Helen Hanson, Alexander Dias, Christos Mikropoulos, Louise Izatt, Lucy Side, Lisa Walker, Alan Donaldson, Jackie A Cook, Julian Barwell, Vicki Wiles, Lauren Limb, Diana M Eccles, Martin O Leach, Susan Shanley, Fiona J Gilbert, David Gallagher, Balashanmugam Rajashanker, Richard W Whitehouse, Dow-Mu Koh, S Aslam Sohaib, D Gareth Evans, Rosalind A Eeles, Leslie G Walker

Genotype-phenotype correlations

Original research: Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia (26 November, 2019) Free
Sylvain Blanchon, Marie Legendre, Mathieu Bottier, Aline Tamalet, Guy Montantin, Nathalie Collot, Catherine Faucon, Florence Dastot, Bruno Copin, Annick Clement, Marcel Filoche, André Coste, Serge Amselem, Estelle Escudier, Jean-Francois Papon, Bruno Louis

Novel disease loci

Original research: Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex (11 November, 2019)
Kohji Kato, Yasuyoshi Oka, Hideki Muramatsu, Filipp F Vasilev, Takanobu Otomo, Hisashi Oishi, Yoshihiko Kawano, Hiroyuki Kidokoro, Yuka Nakazawa, Tomoo Ogi, Yoshiyuki Takahashi, Shinji Saitoh
Short report:
FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy
(10 January, 2020)
Francesca Brun, Marta Gigli, Sharon L Graw, Daniel P Judge, Marco Merlo, Brittney Murray, Hugh Calkins, Gianfranco Sinagra, Matthew RG Taylor, Luisa Mestroni, Cynthia A James

Diagnostics

Original research: Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies (5 October, 2019)
Massimo Bogliolo, Roser Pujol, Miriam Aza-Carmona, Núria Muñoz-Subirana, Benjamin Rodriguez-Santiago, José Antonio Casado, Paula Rio, Christopher Bauser, Judith Reina-Castillón, Marcos Lopez-Sanchez, Lidia Gonzalez-Quereda, Pia Gallano, Albert Catalá, Ana Ruiz-Llobet, Isabel Badell, Cristina Diaz-Heredia, Raquel Hladun, Leonort Senent, Bienvenida Argiles, Juan Miguel Bergua Burgues, Fatima Bañez, Beatriz Arrizabalaga, Ricardo López Almaraz, Monica Lopez, Ángela Figuera, Antonio Molinés, Inmaculada Pérez de Soto, Inés Hernando, Juan Antonio Muñoz, Maria del Rosario Marin, Judith Balmaña, Neda Stjepanovic, Estela Carrasco, Isabel Cuesta, José Miguel Cosuelo, Alexandra Regueiro, José Moraleda Jimenez, Ana Maria Galera-Miñarro, Laura Rosiñol, Anna Carrió, Cristina Beléndez-Bieler, Antonio Escudero Soto, Elena Cela, Gregorio de la Mata, Rafael Fernández-Delgado, Maria Carmen Garcia-Pardos, Raquel Sáez-Villaverde, Marta Barragaño, Raquel Portugal, Francisco Lendinez, Ines Hernadez, José Manue Vagace, Maria Tapia, José Nieto, Marta Garcia, Macarena Gonzalez, Cristina Vicho, Eva Galvez, Alberto Valiente, Maria Luisa Antelo, Phil Ancliff, Francisco Garcia, Joaquin Dopazo, Julian Sevilla, Tobias Paprotka, Luis Alberto Pérez-Jurado, Juan Bueren, Jordi Surralles
Short report: High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers (7 September, 2019)
Maribel González-Acosta, Fátima Marín, Benjamin Puliafito, Nuria Bonifaci, Anna Fernández, Matilde Navarro, Hector Salvador, Francesc Balaguer, Silvia Iglesias, Angela Velasco, Elia Grau Garces, Victor Moreno, Luis Ignacio Gonzalez-Granado, Pilar Guerra-García, Rosa Ayala, Benoît Florkin, Christian Kratz, Tim Ripperger, Thorsten Rosenbaum, Danuta Januszkiewicz-Lewandowska, Amedeo A Azizi, Iman Ragab, Michaela Nathrath, Hans-Jürgen Pander, Stephan Lobitz, Manon Suerink, Karin Dahan, Thomas Imschweiler, Ugur Demirsoy, Joan Brunet, Conxi Lázaro, Daniel Rueda, Katharina Wimmer, Gabriel Capellá, Marta Pineda

Neurogenetics

Original research:
Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly
(5 October, 2019)
Shereen Georges Ghosh, Lu Wang, Martin W Breuss, Joshua D Green, Valentina Stanley, Xiaoxu Yang, Danica Ross, Bryan J Traynor, Amal M Alhashem, Matloob Azam, Laila Selim, Laila Bastaki, Hanan I Elbastawisy, Samia Temtamy, Maha Zaki, Joseph G Gleeson
Short report:
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy
(22 August, 2019)
Joohyun Park, Bianca R Flores, Katalin Scherer, Hanna Kuepper, Mari Rossi, Katrin Rupprich, Maren Rautenberg, Natalie Deininger, Annette Weichselbaum, Alexander Grimm, Marc Sturm, Ute Grasshoff, Eric Delpire, Tobias B Haack

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Table of contents

April 2020 - Volume 57 - 4

Cancer genetics

Genotype-phenotype correlations

Novel disease loci

Diagnostics

Neurogenetics

Issue Information

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Table of contents

April 2020 - Volume 57 - 4

Cancer genetics

Genotype-phenotype correlations

Novel disease loci

Diagnostics

Neurogenetics

Issue Information