Journal of Medical Genetics: 60 (6)

Current Issue

June 2023 - Volume 60 - 6

Position Statement

Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG) (23 February, 2023)
Melissa T Carter, Myriam Srour, Ping-Yee Billie Au, Daniela Buhas, Sarah Dyack, Alison Eaton, Michal Inbar-Feigenberg, Heather Howley, Anne Kawamura, Suzanne M E Lewis, Elizabeth McCready, Tanya N Nelson, Hilary Vallance

Screening

Original research: Systems approach to enhance Lynch syndrome diagnosis through tumour testing (17 September, 2022)
Vinit Singh, Catherine Mezzacappa, Peter Gershkovich, Jessica Di Giovanna, Amanda Ganzak, Joanna Gibson, John Sinard, Rosa M Xicola, Xavier Llor
Original research: Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples (8 December, 2022)
Anna Abulí, Mar Costa-Roger, Marta Codina-Solà, Irene Valenzuela, Jordi Leno-Colorado, Eulàlia Rovira-Moreno, Anna Cueto-González, Paula Fernández-Álvarez, Elena García-Arumí, Ivon Cuscó, Eduardo F Tizzano

Chromosomal rearrangements

Original research: Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences (23 September, 2022)
Weimin Bi, Bo Yuan, Pengfei Liu, Jaclyn B Murry, Xiang Qin, Fan Xia, Thao Quach, Lance M Cooper, Joanna Wiszniewska, Patricia Hixson, Sandra Peacock, Vijay S Tonk, Robert W Huff, Veronica Ortega, James R Lupski, Steven E Scherer, Rebecca Okashah Littlejohn, Gopalrao V N Velagaleti, Elizabeth R Roeder, Sau Wai Cheung

Cancer genetics

Original research:
Germline mutations in WNK2 could be associated with serrated polyposis syndrome
(21 October, 2022)
Yasmin Soares de Lima, Coral Arnau-Collell, Jenifer Muñoz, Cristina Herrera-Pariente, Leticia Moreira, Teresa Ocaña, Marcos Díaz-Gay, Sebastià Franch-Expósito, Miriam Cuatrecasas, Sabela Carballal, Anael Lopez-Novo, Lorena Moreno, Guerau Fernàndez, Aranzazu Díaz de Bustamante, Sophia Peters, Anna K Sommer, Isabel Spier, Iris B A W te Paske, Yasmijn J van Herwaarden, Antoni Castells, Luis Bujanda, Gabriel Capellà, Verena Steinke-Lange, Khalid Mahmood, JiHoon Eric Joo, Julie Arnold, Susan Parry, Finlay A Macrae, Ingrid M Winship, Christophe Rosty, Joaquin Cubiella, Daniel Rodríguez-Alcalde, Elke Holinski-Feder, Richarda de Voer, Daniel D Buchanan, Stefan Aretz, Clara Ruiz-Ponte, Laura Valle, Francesc Balaguer, Laia Bonjoch, Sergi Castellvi-Bel
Original research:
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines
(7 December, 2022)
Xi Luo, Jamie L Maciaszek, Bryony A Thompson, Huei San Leong, Katherine Dixon, Sónia Sousa, Michael Anderson, Maegan E Roberts, Kristy Lee, Amanda B Spurdle, Arjen R Mensenkamp, Terra Brannan, Carolina Pardo, Liying Zhang, Tina Pesaran, Sainan Wei, Grace-Ann Fasaye, Chimene Kesserwan, Brian H Shirts, Jeremy L Davis, Carla Oliveira, Sharon E Plon, Kasmintan A Schrader, Rachid Karam
MSH2 is the very young onset ovarian cancer predisposition gene, not BRCA1
(9 March, 2023)
Nicola Flaum, Emma J Crosbie, Emma Roisin Woodward, Fiona Lalloo, Robert Morgan, Neil Ryan, D Gareth Evans

Neurogenetics

Original research:
New insights into CC2D2A-related Joubert syndrome
(1 November, 2022)
Madeleine Harion, Leila Qebibo, Audrey Riquet, Christelle Rougeot, Alexandra Afenjar, Catherine Garel, Malek Louha, Emmanuelle Lacaze, Frédérique Audic-Gérard, Magali Barth, Patrick Berquin, Dominique Bonneau, Frédéric Bourdain, Tiffany Busa, Estelle Colin, Jean-Marie Cuisset, Vincent Des Portes, Nathalie Dorison, Christine Francannet, Bénédicte Héron, Cécile Laroche, Marine Lebrun, Julia Métreau, Sylvie Odent, Laurent Pasquier, Yaumara Perdomo Trujillo, Laurine Perrin, Lucile Pinson, François Rivier, Sabine Sigaudy, Christel Thauvin-Robinet, Ulrike Walther Louvier, Olivier Labayle, Diana Rodriguez, Stéphanie Valence, Lydie Burglen

Developmental defects

Original research:
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems
(15 November, 2022)
Caroline M Kolvenbach, Tim Felger, Luca Schierbaum, Isabelle Thiffault, Tomi Pastinen, Maria Szczepańska, Marcin Zaniew, Piotr Adamczyk, Allan Bayat, Öznur Yilmaz, Tobias T Lindenberg, Holger Thiele, Friedhelm Hildebrandt, Katrin Hinderhofer, Ute Moog, Alina C Hilger, Bonnie Sullivan, Lauren Bartik, Piotr Gnyś, Phillip Grote, Benjamin Odermatt, Heiko M Reutter, Gabriel C Dworschak

Cognitive and behavioural genetics

Original research:
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2
(3 November, 2022)
Lottie D Morison, Elisabeth Meffert, Miriam Stampfer, Irene Steiner-Wilke, Brigitte Vollmer, Katrin Schulze, Tracy Briggs, Ruth Braden, Adam Vogel, Daisy Thompson-Lake, Chirag Patel, Edward Blair, Himanshu Goel, Samantha Turner, Ute Moog, Angelika Riess, Frederique Liegeois, David A Koolen, David J Amor, Tjitske Kleefstra, Simon E Fisher, Christiane Zweier, Angela T Morgan

Diagnostics

Short report: Reporting clinically relevant genetic variants unrelated to genomic test requests: a survey of Australian clinical laboratory policies and practices (5 January, 2023)
Emma Tudini, Matilda A Haas, Tessa Mattiske, Amanda B Spurdle
Short report: Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events (19 December, 2022)
Alba Segarra-Casas, Cristina Domínguez-González, Aurelio Hernández-Laín, Maria Teresa Sanchez-Calvin, Ana Camacho, Eloy Rivas, Andrea Campo-Barasoain, Marcos Madruga, Carlos Ortez, Daniel Natera-de Benito, Andrés Nascimento, Anna Codina, Maria Jose Rodriguez, Pia Gallano, Lidia Gonzalez-Quereda

Copy-number variation

Original research:
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum
(11 November, 2022)
Tristan Celse, Angèle Tingaud-Sequeira, Klaus Dieterich, Geraldine Siegfried, Cédric Lecaignec, Laurence Bouneau, Madeleine Fannemel, Gaelle Salaun, Fanny Laffargue, Guillaume Martinez, Véronique Satre, Gaelle Vieville, Marie Bidart, Cecilia Soussi Zander, Ann-Charlotte Turesson, Miranda Splitt, Dorothee Reboul, Jean Chiesa, Philippe Khau Van Kien, Manon Godin, Nicolas Gruchy, Himanshu Goel, Elizabeth Palmer, Kalliope Demetriou, Carolyn Shalhoub, Caroline Rooryck, Charles Coutton

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Current Issue

June 2023 - Volume 60 - 6

Position Statement

Screening

Chromosomal rearrangements

Cancer genetics

Neurogenetics

Developmental defects

Cognitive and behavioural genetics

Diagnostics

Copy-number variation

Issue Information

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Current Issue

June 2023 - Volume 60 - 6

Position Statement

Screening

Chromosomal rearrangements

Cancer genetics

Neurogenetics

Developmental defects

Cognitive and behavioural genetics

Diagnostics

Copy-number variation

Issue Information