Journal of Medical Genetics: 59 (8)

Diagnostics

Practice guidelines for BRCA1/2 tumour testing in ovarian cancer
(7 April, 2022)
Daria Grafodatskaya, Darren D O’Rielly, Karine Bedard, Darci T Butcher, Christopher J Howlett, Alice Lytwyn, Elizabeth McCready, Jillian Parboosingh, Elizabeth L Spriggs, Andrea K Vaags, Tracy L Stockley
Original research: Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project (29 October, 2021)
Sunayna Best, Jenny Lord, Matthew Roche, Christopher M Watson, James A Poulter, Roel P J Bevers, Alex Stuckey, Katarzyna Szymanska, Jamie M Ellingford, Jenny Carmichael, Helen Brittain, Carmel Toomes, Chris Inglehearn, Colin A Johnson, Gabrielle Wheway
Original research: Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program (5 November, 2021)
Thomas Cloney, Lyndon Gallacher, Lynn S Pais, Natalie B Tan, Alison Yeung, Zornitza Stark, Natasha J Brown, George McGillivray, Martin B Delatycki, Michelle G de Silva, Lilian Downie, Chloe A Stutterd, Justine Elliott, Alison G Compton, Alysia Lovgren, Ralph Oertel, David Francis, Katrina M Bell, Simon Sadedin, Sze Chern Lim, Guy Helman, Cas Simons, Daniel G Macarthur, David R Thorburn, Anne H O'Donnell-Luria, John Christodoulou, Susan M White, Tiong Yang Tan

Original research: Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy (28 July, 2021)
Michal Yechieli, Suleyman Gulsuner, Hilla Ben-Pazi, Aviva Fattal, Adi Aran, Alla Kuzminsky, Liora Sagi, Dafna Guttman, Nira Schneebaum Sender, Varda Gross-Tsur, Tehila Klopstock, Tom Walsh, Paul Renbaum, Sharon Zeligson, Lilach Shemer Meiri, Dorit Lev, Dorit Shmueli, Luba Blumkin, Amnon Lahad, Mary-Claire King, Ephrat Lahad Levy, Reeval Segel

Original research: Cardiac myosin binding protein-C variants in paediatric-onset hypertrophic cardiomyopathy: natural history and clinical outcomes (16 August, 2021)
Ella Field, Gabrielle Norrish, Vanessa Acquaah, Kathleen Dady, Marcos Nicolas Cicerchia, Juan Pablo Ochoa, Petros Syrris, Karen McLeod, Ruth McGowan, Hannah Fell, Luis R Lopes, Elena Cervi, Juan Pablo Pablo Kaski
Short report:
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis
(5 August, 2021)
Maria J Nabais Sá, Kerry A Miller, Mary McQuaid, Nils Koelling, Andrew O M Wilkie, Hugo Wurtele, Arjan P M de Brouwer, Jorge Oliveira
Short report:
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity
(5 August, 2021)
Simone Gana, Antonella Casella, Sara Cociglio, Elena Tartara, Elisa Rognone, Elisa Giorgio, Anna Pichiecchio, Simona Orcesi, Enza Maria Valente

Original research:
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma
(27 August, 2021)
Laurene Ben Aim, Eamonn R Maher, Alberto Cascon, Anne Barlier, Sophie Giraud, Tonino Ercolino, Pascal Pigny, Roderick J Clifton-Bligh, Delphine Mirebeau-Prunier, Amira Mohamed, Judith Favier, Anne-Paule Gimenez-Roqueplo, Francesca Schiavi, Rodrigo A Toledo, Patricia L Dahia, Mercedes Robledo, Jean Pierre Bayley, Nelly Burnichon
Original research: Oncology clinic-based germline genetic testing for exocrine pancreatic cancer enables timely return of results and unveils low uptake of cascade testing (23 September, 2021)
Yifan Wang, Bryn Golesworthy, Adeline Cuggia, Celine Domecq, Prosanto Chaudhury, Jeffrey Barkun, Peter Metrakos, Jamil Asselah, Nathaniel Bouganim, Zu-Hua Gao, George Chong, William D Foulkes, George Zogopoulos

Original research: Myasthenia gravis genome-wide association study implicates AGRN as a risk locus (16 August, 2021)
Apostolia Topaloudi, Zoi Zagoriti, Alyssa Camille Flint, Melanie Belle Martinez, Zhiyu Yang, Fotis Tsetsos, Yiolanda-Panayiota Christou, George Lagoumintzis, Evangelia Yannaki, Eleni Zamba-Papanicolaou, John Tzartos, Xanthippi Tsekmekidou, Kalliopi Kotsa, Efstratios Maltezos, Nikolaos Papanas, Dimitrios Papazoglou, Ploumis Passadakis, Athanasios Roumeliotis, Stefanos Roumeliotis, Marios Theodoridis, Elias Thodis, Stylianos Panagoutsos, John Yovos, John Stamatoyannopoulos, Konstantinos Poulas, Kleopas Kleopa, Socrates Tzartos, Marianthi Georgitsi, Peristera Paschou

Original research:
Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review
(30 August, 2021)
Anna Durkin, Catherine DeVile, Paul Arundel, Mary Bull, Jennifer Walsh, Nicholas J Bishop, Emilie Hupin, Susan Parekh, Ramesh Nadarajah, Amaka C Offiah, Alistair Calder, Joanna Brock, Duncan Baker, Meena Balasubramanian

Original research: A step forward, but still inadequate: Australian health professionals’ views on the genetics and life insurance moratorium (20 September, 2021)
Jane M Tiller, Louise A Keogh, Aideen M McInerney-Leo, Andrea Belcher, Kristine Barlow-Stewart, Tiffany Boughtwood, Penny Gleeson, Grace Dowling, Anya Prince, Yvonne Bombard, Yann Joly, Martin Delatycki, Ingrid M Winship, Margaret Otlowski, Paul Lacaze