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BMJ Journals

Online First

April 05, 2021

Phenotypes
Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines

Lukas Nollet, Laurence Campens, Julie De Zaeytijd, Bart Leroy, Dimitri Hemelsoet, Paul J Coucke, Olivier M Vanakker

doi: 10.1136/jmedgenet-2020-107565
Developmental defects
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Annie Laquerriere, Dana Jaber, Emanuela Abiusi, Jérome Maluenda, Dan Mejlachowicz, Alexandre Vivanti, Klaus Dieterich, Radka Stoeva, Loic Quevarec, Flora Nolent, Valerie Biancalana, Philippe Latour, Damien Sternberg, Yline Capri, Alain Verloes, Bettina Bessieres, Laurence Loeuillet, Tania Attie-Bitach, Jelena Martinovic, Sophie Blesson, Florence Petit, Claire Beneteau, Sandra Whalen, Florent Marguet, Jerome Bouligand, Delphine Héron, Géraldine Viot, Jeanne Amiel, Daniel Amram, Céline Bellesme, Martine Bucourt, Laurence Faivre, Pierre-Simon Jouk, Suonavy Khung, Sabine Sigaudy, Anne-Lise Delezoide, Alice Goldenberg, Marie-Line Jacquemont, Laetitia Lambert, Valérie Layet, Stanislas Lyonnet, Arnold Munnich, Lionel Van Maldergem, Juliette Piard, Fabien Guimiot, Pierre Landrieu, Pascaline Letard, Fanny Pelluard, Laurence Perrin, Marie-Hélène Saint-Frison, Haluk Topaloglu, Laetitia Trestard, Catherine Vincent-Delorme, Helge Amthor, Christine Barnerias, Alexandra Benachi, Eric Bieth, Elise Boucher, Valerie Cormier-Daire, Andrée Delahaye-Duriez, Isabelle Desguerre, Bruno Eymard, Christine Francannet, Sarah Grotto, Didier Lacombe, Fanny Laffargue, Marine Legendre, Dominique Martin-Coignard, André Mégarbané, Sandra Mercier, Mathilde Nizon, Luc Rigonnot, Fabienne Prieur, Chloé Quélin, Hanitra Ranjatoelina-Randrianaivo, Nicoletta Resta, Annick Toutain, Helene Verhelst, Marie Vincent, Estelle Colin, Catherine Fallet-Bianco, Michèle Granier, Romulus Grigorescu, Julien Saada, Marie Gonzales, Anne Guiochon-Mantel, Jean-Louis Bessereau, Marcel Tawk, Ivo Gut, Cyril Gitiaux, Judith Melki

doi: 10.1136/jmedgenet-2020-107595

April 02, 2021

Neurogenetics
Adult phenotype of KCNQ2 encephalopathy

Stephanie Boets, Katrine M Johannesen, Anne Destree, Filippo Manti, Georgia Ramantani, Gaetan Lesca, Laurent Vercueil, Mary Kay Koenig, Pasquale Striano, Rikke Steensbjerre Møller, Edward Cooper, Sarah Weckhuysen

doi: 10.1136/jmedgenet-2020-107449
Neurogenetics
Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy

Zhimei Liu, Li Zhang, Changhong Ren, Manting Xu, Shufang Li, Rui Ban, Ye Wu, Ling Chen, Suzhen Sun, Matthias Elstner, Masaru Shimura, Minako Ogawa-Tominaga, Kei Murayama, Tieliu Shi, Holger Prokisch, Fang Fang

doi: 10.1136/jmedgenet-2020-107383
Cancer genetics
Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore

Pei Sze Ng, Rick ACM Boonen, Eldarina Wijaya, Chan Eng Chong, Milan Sharma, Sabine Knaup, Shivaani Mariapun, Weang Kee Ho, Joanna Lim, Sook-Yee Yoon, Nur Aishah Mohd Taib, Mee Hoong See, Jingmei Li, Swee Ho Lim, Ern Yu Tan, Benita Kiat-Tee Tan, Su-Ming Tan, Veronique Kiat-Mien Tan, Rob Martinus van Dam, Kartini Rahmat, Cheng Har Yip, Sara Carvalho, Craig Luccarini, Caroline Baynes, Alison M Dunning, Antonis Antoniou, Haico van Attikum, Douglas F Easton, Mikael Hartman, Soo Hwang Teo

doi: 10.1136/jmedgenet-2020-107471
Phenotypes
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome

Marion Aubert Mucca, Olivier Patat, Sandra Whalen, Lionel Arnaud, Giulia Barcia, Julien Buratti, Benjamin Cogné, Diane Doummar, Caroline Karsenty, Sandra Kenis, Eric Leguern, Gaetan Lesca, Caroline Nava, Mathilde Nizon, Amelie Piton, Stéphanie Valence, Laurent Villard, Sarah Weckhuysen, Boris Keren, Cyril Mignot

doi: 10.1136/jmedgenet-2020-107511

March 29, 2021

Vision science
Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia

Maria Tarilonte, Patricia Ramos, Jennifer Moya, Guilermo Fernandez-Sanz, Fiona Blanco-Kelly, Saoud Tahsin Swafiri, Cristina Villaverde, Raquel Romero, Alejandra Tamayo, Blanca Gener, Patrick Calvas, Carmen Ayuso, Marta Corton

doi: 10.1136/jmedgenet-2020-106932
Cancer genetics
Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome

Lisa Golmard, Lauren M Vasta, Valérie Duflos, Carole Corsini, Catherine Dubois d'Enghien, Mary L McMaster, Laura A Harney, Ann G Carr, Alexander Ling, Frédérique Dijoud, Arnaud Gauthier, Markku Miettinen, Nicholas G Cost, Marion Gauthier-Villars, Daniel Orbach, Sabine Irtan, Stéphanie Haouy, Kris Ann Schultz, Dominique Stoppa-Lyonnet, Isabelle Coupier, Douglas R Stewart, Nicolas Sirvent

doi: 10.1136/jmedgenet-2020-107434

March 25, 2021

Neurogenetics
Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease

Jianwen Deng, Binbin Zhou, Jiaxi Yu, Xiaochen Han, Jianhui Fu, Xiaobin Li, Xufang Xie, Min Zhu, Yilei Zheng, Xueyu Guo, Pidong Li, Qingqing Wang, Jing Liu, Wei Zhang, Yun Yuan, Sheng Yao, Zhaoxia Wang, Daojun Hong

doi: 10.1136/jmedgenet-2020-107649
Cancer genetics
High cumulative risk of colorectal cancers and desmoid tumours and fibromatosis in South Asian APC mutation carriers

Shivani Ashar, Anuja Lipsa, Nikhat Khan, Rajiv Sarin

doi: 10.1136/jmedgenet-2021-107731
Diagnostics
Improving the clinical interpretation of missense variants in X linked genes using structural analysis

Shalaw Rassul Sallah, Jamie M Ellingford, Panagiotis I Sergouniotis, Simon C Ramsden, Nicholas Lench, Simon C Lovell, Graeme C Black

doi: 10.1136/jmedgenet-2020-107404

March 23, 2021

Cancer genetics
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer

D Gareth Evans, Elke Maria van Veen, Helen J Byers, Sarah J Evans, George J Burghel, Emma Roisin Woodward, Elaine F Harkness, Diana M Eccles, Stephanie L Greville-Haygate, Jamie M Ellingford, Naomi L Bowers, Marta Pereira, Andrew J Wallace, Sasha J Howell, Anthony Howell, Fiona Lalloo, William G Newman, Miriam Jane Smith

doi: 10.1136/jmedgenet-2020-107347

March 22, 2021

Genotype-phenotype correlations
Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s

Bong Jik Kim, Hyoung Won Jeon, Woosung Jeon, Jin Hee Han, Jayoung Oh, Nayoung Yi, Min Young Kim, Minah Kim, Justin Namju Kim, Bo Hye Kim, Joon Young Hyon, Dongsup Kim, Ja-Won Koo, Doo-Yi Oh, Byung Yoon Choi

doi: 10.1136/jmedgenet-2020-107594

March 18, 2021

Biochemical genetics
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

Abdellah Tebani, Bénédicte Sudrié-Arnaud, Ivana Dabaj, Stéphanie Torre, Laur Domitille, Sarah Snanoudj, Benedicte Heron, Thierry Levade, Catherine Caillaud, Sabrina Vergnaud, Pascale Saugier-Veber, Sophie Coutant, Hélène Dranguet, Roseline Froissart, Majed Al Khouri, Yves Alembik, Julien Baruteau, Jean-Baptiste Arnoux, Anais Brassier, Anne-Claire Brehin, Tiffany Busa, Aline Cano, Brigitte Chabrol, Christine Coubes, Isabelle Desguerre, Martine Doco-Fenzy, Bernard Drenou, Nursel H Elcioglu, Solaf Elsayed, Alain Fouilhoux, Céline Poirsier, Alice Goldenberg, Philippe Jouvencel, Alice Kuster, François Labarthe, Leila Lazaro, Samia Pichard, Serge Rivera, Sandrine Roche, Stéphanie Roggerone, Agathe Roubertie, Sabine Sigaudy, Marta Spodenkiewicz, Marine Tardieu, Catherine Vanhulle, Stéphane Marret, Soumeya Bekri

doi: 10.1136/jmedgenet-2020-107510

March 08, 2021

Phenotypes
De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy

Aviel Ragamin, Carolina C Gomes, Karen Bindels-de Heus, Renata Sandoval, Angelia V Bassenden, Luciano Dib, Fernando Kok, Julieta Alves, Irene Mathijssen, Evita Medici-Van den Herik, Robert Eveleigh, Tenzin Gayden, Bas Pullens, Albert Berghuis, Marjon van Slegtenhorst, Martina Wilke, Nada Jabado, Grazia Maria Simonetta Mancini, Ricardo Santiago Gomez

doi: 10.1136/jmedgenet-2020-107427

March 05, 2021

Neurogenetics
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics

Quentin Thomas, Antonio Vitobello, Frederic Tran Mau-Them, Yannis Duffourd, Agnès Fromont, Maurice Giroud, Benoit Daubail, Agnès Jacquin-Piques, Marie Hervieu-Begue, Thibault Moreau, Guy-Victor Osseby, Philippine Garret, Sophie Nambot, Julian Delanne, Ange-Line Bruel, Arthur Sorlin, Patrick Callier, Anne-Sophie Denomme-Pichon, Laurence Faivre, Yannick Béjot, Christophe Philippe, Christel Thauvin-Robinet, Sébastien Moutton

doi: 10.1136/jmedgenet-2020-107369
Genotype-phenotype correlations
Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study

Sara Nuovo, Alessia Micalizzi, Romina Romaniello, Filippo Arrigoni, Monia Ginevrino, Antonella Casella, Valentina Serpieri, Stefano D'Arrigo, Marilena Briguglio, Grazia Gabriella Salerno, Sara Rossato, Stefano Sartori, Vincenzo Leuzzi, Roberta Battini, Bruria Ben-Zeev, Claudio Graziano, Marisol Mirabelli Badenier, Vesna Brankovic, Nardo Nardocci, Ronen Spiegel, Danijela Petković Ramadža, Giovanni Vento, Itxaso Marti, Alessandro Simonati, Savina Dipresa, Elena Freri, Tommaso Mazza, Maria Teresa Bassi, Luca Bosco, Lorena Travaglini, Ginevra Zanni, Enrico Silvio Bertini, Nicola Vanacore, Renato Borgatti, Enza Maria Valente

doi: 10.1136/jmedgenet-2020-107497
Cancer genetics
Genetic variants associated with expression of TCF19 contribute to the risk of head and neck cancer in Chinese population

Pei Ji, Jiang Chang, Xiaoyu Wei, Xueyao Song, Hua Yuan, Linnan Gong, Yuancheng Li, Dongsheng Ding, Erbao Zhang, Caiwang Yan, Meng Zhu, Xiaoping Miao, Chen Wu, Guangfu Jin, Zhibin Hu, Hongbing Shen, Hongxia Ma

doi: 10.1136/jmedgenet-2020-107410

February 23, 2021

Cancer genetics
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group

Melyssa Aronson, Chrystelle Colas, Andrew Shuen, Heather Hampel, William D Foulkes, Hagit Baris Feldman, Yael Goldberg, Martine Muleris, Kami Wolfe Schneider, Rose B McGee, Kory Jasperson, Arun Rangaswami, Laurence Brugieres, Uri Tabori

doi: 10.1136/jmedgenet-2020-107627

February 19, 2021

Developmental defects
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration

Maria Lisa Dentici, Viola Alesi, Mathieu Quinodoz, Barbara Robens, Andrea Guerin, Sébastien Lebon, Annapurna Poduri, Lorena Travaglini, Federica Graziola, Alexandra Afenjar, Boris Keren, Valerio Licursi, Alessandro Capuano, Bruno Dallapiccola, Andrea Superti-Furga, Antonio Novelli

doi: 10.1136/jmedgenet-2020-107430

February 12, 2021

Developmental defects
Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome

Joan Sabria-Back, Ana Monteagudo-Sánchez, Marta Sánchez-Delgado, Anne C Ferguson-Smith, Olga Gómez, Africa Pertierra Cartada, Jair Tenorio, Julián Nevado, Pablo Lapunzina, Arrate Pereda Aguirre, Carles Giménez Sevilla, Estefanía Toro Toro, Guiomar Perez de Nanclares, David Monk

doi: 10.1136/jmedgenet-2020-107433

February 10, 2021

Cancer genetics
Surgical decision making in premenopausal BRCA carriers considering risk-reducing early salpingectomy or salpingo-oophorectomy: a qualitative study

Faiza Gaba, Shivam Goyal, Dalya Marks, Dhivya Chandrasekaran, Olivia Evans, Sadiyah Robbani, Charlotte Tyson, Rosa Legood, Ertan Saridogan, W Glenn McCluggage, Helen Hanson, Naveena Singh, D Gareth Evans, Usha Menon, Ranjit Manchanda on behalf of the PROTECTOR team

doi: 10.1136/jmedgenet-2020-107501
Cancer genetics
Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers

Ruta Marcinkute, Emma Roisin Woodward, Ashu Gandhi, Sacha Howell, Emma J Crosbie, Julie Wissely, James Harvey, Lindsay Highton, John Murphy, Cathrine Holland, Richard Edmondson, Richard Clayton, Lester Barr, Elaine F Harkness, Anthony Howell, Fiona Lalloo, D Gareth Evans

doi: 10.1136/jmedgenet-2020-107356

February 09, 2021

Screening
Universal germline testing among patients with colorectal cancer: clinical actionability and optimised panel

Wu Jiang, Lin Li, Chuan-Feng Ke, Wei Wang, Bin-Yi Xiao, Ling-Heng Kong, Jing-Hua Tang, Yuan Li, Xiao-Dan Wu, Ying Hu, Wei-Hua Guo, Si-Zhen Wang, De-Sen Wan, Rui-Hua Xu, Zhi-Zhong Pan, Pei-Rong Ding

doi: 10.1136/jmedgenet-2020-107230

February 05, 2021

Diagnostics
Circular RNA-based biomarkers in blood of patients with Fabry disease and related phenotypes

Albina Nowak, George Haddad, Andreas D Kistler, Stellor Nlandu-Khodo, Felix Beuschlein, Rudolf P Wüthrich, Johan M Lorenzen, Malte Kölling

doi: 10.1136/jmedgenet-2020-107086
Neurogenetics
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation

Vassilis Ragoussis, Alistair T Pagnamenta, Rebecca L Haines, Edoardo Giacopuzzi, Martin A McClatchey, Julian R Sampson, Mohnish Suri, Alice Gardham, Jan-Maarten Cobben, Deborah Osio, Andrew E Fry, Genomics England Research Consortium, Jenny C Taylor

doi: 10.1136/jmedgenet-2020-107528

February 01, 2021

Cancer genetics
Oncologist-led BRCA counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes

Sook-Yee Yoon, Siu Wan Wong, Joanna Lim, Syuhada Ahmad, Shivaani Mariapun, Heamanthaa Padmanabhan, Nur Tiara Hassan, Shao Yan Lau, Gaik-Siew Ch'ng, Muzhirah Haniffa, Winnie P Ong, Kavitha Rethanavelu, Lip Hen Moey, Wee Teik Keng, Jamil Omar, Mohd Norazam Mohd Abas, Chee Meng Yong, Vickneswaren Ramasamy, Mohd Rushdan Md Noor, Ismail Aliyas, Michael C K Lim, Anuradha Suberamaniam, Noor Azmi Mat Adenan, Zatul Akmar Ahmad, Gwo Fuang Ho, Rozita Abdul Malik, Suguna Subramaniam, Boom Ping Khoo, Arivendran Raja, Yeung Sing Chin, Wee Wee Sim, Beng Hock Teh, Swee Kiong Kho, Eunice S E Ong, Pei Jye Voon, Ghazali Ismail, Chui Ling Lee, Badrul Zaman Abdullah, Kwong Sheng Loo, Chun Sen Lim, Saw Joo Lee, Keng Joo Lim Lim, Mohamad Nasir Shafiee, Fuad Ismail, Zarina Abdul Latiff, Mohd Pazudin Ismail, Mohamad Faiz Mohamed Jamli, Suresh Kumarasamy, Kin Wah Leong, John Low, Mastura Md Yusof, Ahmad Muzamir Ahmad Mustafa, Nor Huda Mat Ali, Mary Makanjang, Shahila Tayib, Nellie Cheah, Boon Kiong Lim, Chee Kin Fong, Yoke Ching Foo, Matin Mellor Abdullah, Teck Sin Tan, Doris S Y Chow, Kean Fatt Ho, Rakesh Raman, Ahmad Radzi, Azura Deniel, Daren C Y Teoh, Soo Fan Ang, Joseph K Joseph, Paul Hock Oon Ng, Lye-Mun Tho, Azura Rozila Ahmad, Ileena Muin, Eveline Bleiker, Angela George, Meow-Keong Thong, Yin Ling Woo, Soo Hwang Teo

doi: 10.1136/jmedgenet-2020-107416

January 28, 2021

Genotype-phenotype correlations
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders

Eduardo Calpena, Maud Wurmser, Simon J McGowan, Rodrigo Atique, Débora R Bertola, Michael L Cunningham, Jonas A Gustafson, David Johnson, Jenny E V Morton, Maria Rita Passos-Bueno, Andrew T Timberlake, Richard P Lifton, Steven A Wall, Stephen R F Twigg, Pascal Maire, Andrew O M Wilkie

doi: 10.1136/jmedgenet-2020-107459

January 25, 2021

Genotype-phenotype correlations
Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease

Albina Nowak, Felix Beuschlein, Visnuka Sivasubramaniam, David Kasper, David G Warnock

doi: 10.1136/jmedgenet-2020-107338
Immunogenetics
DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation

Lev Prasov, Brenda L Bohnsack, Antonette S El Husny, Lam C Tsoi, Bin Guan, J Michelle Kahlenberg, Edmundo Almeida, Haitao Wang, Edward W Cowen, Adriana A De Jesus, Priyam Jani, Allison C Billi, Sayoko E Moroi, Rachael Wasikowski, Izabela Almeida, Luciana N Almeida, Fernando Kok, Sarah J Garnai, Shahzad I Mian, Marcus Y Chen, Blake M Warner, Carlos R Ferreira, Raphaela Goldbach-Mansky, Sun Hur, Brian P Brooks, Julia E Richards, Robert B Hufnagel, Johann E Gudjonsson

doi: 10.1136/jmedgenet-2020-107447
Cancer genetics
Pregnancy outcomes in women with neurofibromatosis 1: a Danish population-based cohort study

Line Kenborg, Cristina Boschini, Pernille E Bidstrup, Susanne O Dalton, Karoline Doser, Thomas T Nielsen, Anja Krøyer, Christoffer Johansen, Kirsten Frederiksen, Sven Asger Sørensen, Hanne Hove, John R Østergaard, John J Mulvihill, Jeanette F Winther

doi: 10.1136/jmedgenet-2020-107201

January 18, 2021

Developmental defects
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH

Tiana M Scott, Ian M Campbell, Andres Hernandez-Garcia, Seema R Lalani, Pengfei Liu, Chad A Shaw, Jill A Rosenfeld, Daryl A Scott

doi: 10.1136/jmedgenet-2020-107317

January 15, 2021

Cancer genetics
Advances in genetic technologies result in improved diagnosis of mismatch repair deficiency in colorectal and endometrial cancers

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

doi: 10.1136/jmedgenet-2020-107542
Developmental defects
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome

Simona Amenta, Silvia Frangella, Giuseppe Marangi, Serena Lattante, Stefania Ricciardi, Paolo Niccolò Doronzio, Daniela Orteschi, Chiara Veredice, Ilaria Contaldo, Giuseppe Zampino, Mattia Gentile, Emanuela Scarano, Claudio Graziano, Marcella Zollino

doi: 10.1136/jmedgenet-2020-107225

January 12, 2021

Neurogenetics
Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene

Richard J L F Lemmers, Patrick J van der Vliet, Ana Blatnik, Judit Balog, Janez Zidar, Don Henderson, Rianne Goselink, Stephen J Tapscott, Nicol C Voermans, Rabi Tawil, George W A M Padberg, Baziel GM van Engelen, Silvère M van der Maarel

doi: 10.1136/jmedgenet-2020-107041

January 04, 2021

Miscellaneous
Correction: Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome

doi: 10.1136/jmedgenet-2013-013466corr1
Cancer genetics
Comprehensive evaluation of BRCA1/2 variant interpretation ability among laboratories in China

Kang Shao, Ruixia Wang, Shoufang Qu, Wenxin Zhang, Ting Yu, Boyang Cao, Pingping Dai, Anna Zhu, Jianguang Zhang, Juan Wang, Lusheng Wang, Shida Zhu, Kui Wu, Xuexi Yang, Xiaoyan Chang, Fang Chen, Jie Huang

doi: 10.1136/jmedgenet-2020-107360

December 21, 2020

Screening
Adopted individuals’ interest in elective genomic testing

Jessica Edgar, Annie Bao, Tara Maga, Marci Schwartz, Carin Yates, Sara Spencer

doi: 10.1136/jmedgenet-2020-107503
Cancer genetics
Calibration of polygenic risk scores is required prior to clinical implementation: results of three common cancers in UKB

Jun Wei, Zhuqing Shi, Rong Na, W Kyle Resurreccion, Chi-Hsiung Wang, David Duggan, S Lilly Zheng, Peter J Hulick, Brian T Helfand, Jianfeng Xu

doi: 10.1136/jmedgenet-2020-107286
Genotype-phenotype correlations
Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay

Siren Berland, Bjørn Ivar Haukanes, Petur Benedikt Juliusson, Gunnar Houge

doi: 10.1136/jmedgenet-2020-107401

December 15, 2020

Cognitive and behavioural genetics
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis

Lisa Pavinato, Marina Villamor-Payà, Maria Sanchiz-Calvo, Cristina Andreoli, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Andrea Ciolfi, Alessandro Bruselles, Tommaso Pippucci, Valentina Prota, Diana Carli, Elisa Giorgio, Francesca Clementina Radio, Vincenzo Antona, Mario Giuffrè, Kara Ranguin, Cindy Colson, Silvia De Rubeis, Paola Dimartino, Joseph D Buxbaum, Giovanni Battista Ferrero, Marco Tartaglia, Simone Martinelli, Travis H Stracker, Alfredo Brusco

doi: 10.1136/jmedgenet-2020-107281
Genotype-phenotype correlations
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy

Xiaoshan Tang, Cuihua Liu, Xiaorong Liu, Jing Chen, Xiaoyan Fan, Jialu Liu, Duan Ma, Guanghai Cao, Zhi Chen, Daliang Xu, Ying Zhu, Xiaoyun Jiang, Lizhi Cheng, Yubing Wu, Ling Hou, Yuhong Li, Xiaoshan Shao, Shasha Zheng, Aihua Zhang, Bixia Zheng, Shan Jian, Zanhua Rong, Qingxiao Su, Xia Gao, Jia Rao, Qian Shen, Hong Xu, Chinese Children Genetic Kidney Disease Database (CCGKDD) “Internet Plus” Nephrology Alliance of the National Center for Children’s Care

doi: 10.1136/jmedgenet-2020-107184

December 14, 2020

Structural variation
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

doi: 10.1136/jmedgenet-2020-107320
Biochemical genetics
Dysfunction of VIPR2 leads to myopia in humans and mice

Fuxin Zhao, Qihang Li, Wei Chen, He Zhu, Dengke Zhou, Peter Sol Reinach, Zhenglin Yang, Mingguang He, Anquan Xue, Deng Wu, Tianzi Liu, Qian Fu, Changqing Zeng, Jia Qu, Xiangtian Zhou

doi: 10.1136/jmedgenet-2020-107220

December 03, 2020

Cancer genetics
Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883)

Jan Hauke, Philipp Harter, Corinna Ernst, Alexander Burges, Sandra Schmidt, Alexander Reuss, Julika Borde, Nikolaus De Gregorio, Dimo Dietrich, Ahmed El-Balat, Mohamad Kayali, Heidrun Gevensleben, Felix Hilpert, Janine Altmüller, André Heimbach, Werner Meier, Birgid Schoemig-Markiefka, Holger Thiele, Rainer Kimmig, Peter Nürnberg, Karin Kast, Lisa Richters, Jalid Sehouli, Rita K Schmutzler, Eric Hahnen

doi: 10.1136/jmedgenet-2020-107353

November 30, 2020

Genome-wide studies
Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region

Xin (Cynthia) Ye, Nicole M Roslin, Andrew D Paterson, Christopher J Lyons, Victor Pegado, Phillip Richmond, Casper Shyr, Oriol Fornes, XiaoHua Han, Michelle Higginson, Colin J Ross, Deborah Giaschi, Cheryl Gregory-Evans, Millan S Patel, Wyeth W Wasserman

doi: 10.1136/jmedgenet-2020-107226

November 23, 2020

Developmental defects
Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia

Francisca Díaz-González, Saruchi Wadhwa, Maria Rodriguez-Zabala, Somesh Kumar, Miriam Aza-Carmona, Lucia Sentchordi-Montané, Milagros Alonso, Istaq Ahmad, Sana Zahra, Deepak Kumar, Neetu Kushwah, Uzma Shamim, Haseena Sait, Seema Kapoor, Belen Roldán, Gen Nishimura, Amaka C Offiah, Mohammed Faruq, Karen E. Heath

doi: 10.1136/jmedgenet-2020-107177

November 20, 2020

Genotype-phenotype correlations
Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma

Jung Hee Kim, Man Jin Kim, Sung Hye Kong, Su Jin Kim, Hyein Kang, Chan Soo Shin, Sung Sup Park, Kyu Eun Lee, Moon-Woo Seong

doi: 10.1136/jmedgenet-2020-107102
Diagnostics
Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer

José Marcos Moreno-Cabrera, Jesús del Valle, Lidia Feliubadaló, Marta Pineda, Sara González, Olga Campos, Raquel Cuesta, Joan Brunet, Eduard Serra, Gabriel Capellà, Bernat Gel, Conxi Lázaro

doi: 10.1136/jmedgenet-2020-107366

November 18, 2020

Cancer genetics
A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1

Emeli Pontén, Sofia Frisk, Fulya Taylan, Raquel Vaz, Sandra Wessman, Leanne de Kock, Niklas Pal, William D Foulkes, Kristina Lagerstedt-Robinson, Ann Nordgren

doi: 10.1136/jmedgenet-2020-107385

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