Journal of Medical Genetics: 59 (7)

Cancer genetics

Disorders and roles of tsRNA, snoRNA, snRNA and piRNA in cancer (10 February, 2022)
Lin Xiao, Jie Wang, Shaoqing Ju, Ming Cui, Rongrong Jing
Original research: Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors (29 November, 2021)
Andrew Lee, Xin Yang, Jonathan Tyrer, Aleksandra Gentry-Maharaj, Andy Ryan, Nasim Mavaddat, Alex P Cunningham, Tim Carver, Stephanie Archer, Goska Leslie, Jatinder Kalsi, Faiza Gaba, Ranjit Manchanda, Simon Gayther, Susan J Ramus, Fiona M Walter, Marc Tischkowitz, Ian Jacobs, Usha Menon, Douglas F Easton, Paul Pharoah, Antonis C Antoniou
Original research: Novel germline variant in the histone demethylase and transcription regulator KDM4C induces a multi-cancer phenotype (19 July, 2021)
Riku Katainen, Iikki Donner, Maritta Räisänen, Davide Berta, Anna Kuosmanen, Eevi Kaasinen, Marja Hietala, Lauri A Aaltonen
Original research: Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population (25 June, 2021)
Li Zhang, Zixin Qin, Teng Huang, Benjamin Tam, Yongsen Ruan, Maoni Guo, Xiaobing Wu, Jiaheng Li, Bojin Zhao, Jia Sheng Chian, Xiaoyu Wang, Lei Wang, San Ming Wang

Original research:
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive
(18 June, 2021)
Guido Vogt, Sarah Verheyen, Sarina Schwartzmann, Nadja Ehmke, Cornelia Potratz, Anette Schwerin-Nagel, Barbara Plecko, Manuel Holtgrewe, Dominik Seelow, Jasmin Blatterer, Michael R Speicher, Uwe Kornak, Denise Horn, Stefan Mundlos, Björn Fischer-Zirnsak, Felix Boschann
Original research:
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders
(28 July, 2021)
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

Original research: Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component (4 August, 2021)
Núria Catasús, Belen Garcia, Iván Galván-Femenía, Adrià Plana, Alejandro Negro, Inma Rosas, Andrea Ros, Emilio Amilibia, Juan Luis Becerra, Cristina Hostalot, Francesc Rocaribas, Isabel Bielsa, Conxi Lazaro Garcia, Rafael de Cid, Eduard Serra, Ignacio Blanco, Elisabeth Castellanos
Short report: Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series (30 June, 2021)
Nattaporn Tassanakijpanich, Forrest J McKenzie, Yingratana A McLennan, Elisabeth Makhoul, Flora Tassone, Mittal J Jasoliya, Christopher Romney, Ignacio Cortina Petrasic, Kaye Napalinga, Caroline B Buchanan, Paul Hagerman, Randi Hagerman, Emily L Casanova

Original research: Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects (2 July, 2021)
Yoav Bolkier, Ortal Barel, Dina Marek-Yagel, Danit Atias-Varon, Maayan Kagan, Amir Vardi, David Mishali, Uriel Katz, Yishay Salem, Tal Tirosh-Wagner, Jeffrey M Jacobson, Annick Raas-Rothschild, Odelia Chorin, Aviva Eliyahu, Yarden Sarouf, Omer Shlomovitz, Alvit Veber, Nechama Shalva, Elisheva Javasky, Yishay Ben Moshe, Orna Staretz-Chacham, Gideon Rechavi, Shrikant Mane, Yair Anikster, Asaf Vivante, Ben Pode-Shakked

Original research: O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum (28 July, 2021)
Clara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli, Frederic Tran Mau-them, Antonio Vitobello, Marcus CY Chan, Jasmine Lee-Fong Fung, Megan Rech, Angela Abicht, Marion Aubert Mucca, Jason Carmichael, Nicolas Chassaing, Robin Clark, Christine Coubes, Anne-Sophie Denommé-Pichon, John Karl de Dios, Eleina England, Benoit Funalot, Marion Gerard, Maries Joseph, Colleen Kennedy, Camille Kumps, Marjolaine Willems, Ingrid M B.H van de Laar, Coranne Aarts-Tesselaar, Marjon van Slegtenhorst, Daphné Lehalle, Kathleen Leppig, Lennart Lessmeier, Lynn S Pais, Heather Paterson, Subhadra Ramanathan, Lance H Rodan, Andrea Superti-Furga, Brian H.Y. Chung, Elliott Sherr, Christian Netzer, Christian P Schaaf, Florian Erger
Short report:
Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS)
(28 July, 2021)
Ellenore M Martin, Ying Zhu, Claudine M Kraan, Kishore R Kumar, David E Godler, Michael Field

Original research:
Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice
(4 August, 2021)
Jiangshan Cong, Xiong Wang, Amir Amiri-Yekta, Lingbo Wang, Zine-Eddine Kherraf, Chunyu Liu, Caroline Cazin, Shuyan Tang, Seyedeh Hanieh Hosseini, Shixiong Tian, Abbas Daneshipour, Jiaxiong Wang, Yiling Zhou, Yuyan Zeng, Shenmin Yang, Xiaojin He, Jinsong Li, Yunxia Cao, Li Jin, Pierre F Ray, Feng Zhang

Short report:
Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome
(7 June, 2021)
Yue Huang, Katheryn Grand, Virginia Kimonis, Merlin G Butler, Suparna Jain, Alden Yen-Wen Huang, Julian A Martinez-Agosto, Stanley F Nelson, Pedro A Sanchez-Lara

Likely foregut endoderm origin for a postzygotic mutation affecting the RNase IIIb domain of DICER1 (20 September, 2021)
Anne-Sophie Chong, Maria Apellaniz-Ruiz, Leanne de Kock, Dorothée Bouron-Dal Soglio, William R Doyle, John R Priest, Barbara Rivera, William D Foulkes