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BMJ Journals

Online First

December 14, 2021

Chromosomal rearrangements
Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer

Florentine Scharf, Rafaela Magalhaes Leal Silva, Monika Morak, Alex Hastie, Julia M A Pickl, Kai Sendelbach, Christian Gebhard, Melanie Locher, Andreas Laner, Verena Steinke-Lange, Udo Koehler, Elke Holinski-Feder, Dieter A Wolf

doi: 10.1136/jmedgenet-2021-108147

December 07, 2021

Developmental defects
Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis

Marie F. Smeland, Pascal Brouillard, Trine Prescott, Laurence M Boon, Bodil Hvingel, Cecilie V Nordbakken, Mona Nystad, Øystein L. Holla, Miikka Vikkula

doi: 10.1136/jmedgenet-2021-108179
Clinical guidelines
Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations

Pauline Le Tanno, Xenia Latypova, John Rendu, Julien Fauré, Véronique Bourg, Marjolaine Gauthier, Gipsy Billy-Lopez, Pierre-Simon Jouk, Klaus Dieterich

doi: 10.1136/jmedgenet-2021-107823

December 06, 2021

Genotype-phenotype correlations
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study

Kristoffer Björkman, John Vissing, Elsebet Østergaard, Laurence A Bindoff, Irenaeus F M de Coo, Martin Engvall, Omar Hikmat, Pirjo Isohanni, Gittan Kollberg, Christopher Lindberg, Kari Majamaa, Karin Naess, Johanna Uusimaa, Mar Tulinius, Niklas Darin

doi: 10.1136/jmedgenet-2021-108006
Therapeutics
Pharmacogenomic testing and prescribing patterns for patients with cancer in a large national precision medicine cohort

Jay G Ronquillo, William T Lester

doi: 10.1136/jmedgenet-2021-108112

November 22, 2021

Somatic mosaicism
Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex

Katarzyna Klonowska, Elizabeth A Thiele, Joannes M Grevelink, Aaron R Thorner, David J Kwiatkowski

doi: 10.1136/jmedgenet-2021-108160

November 15, 2021

Genotype-phenotype correlations
Variable skeletal phenotypes associated with biallelic variants in PRKG2

Alistair T Pagnamenta, Francisca Diaz-Gonzalez, Benito Banos-Pinero, Matteo P Ferla, Mehran B Toosi, Alistair D Calder, Ehsan G Karimiani, Mohammad Doosti, Andrew Wainwright, Paul Wordsworth, Kathryn Bailey, Katarina Ejeskär, Tracy Lester, Reza Maroofian, Karen E Heath, Homa Tajsharghi, Deborah Shears, Jenny C Taylor The Genomics England Research Consortium

doi: 10.1136/jmedgenet-2021-108027
Screening
Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives

Islam Salikhanov, Karl Heinimann, Pierre Chappuis, Nicole Buerki, Rossella Graffeo, Viola Heinzelmann, Manuela Rabaglio, Monica Taborelli, Simon Wieser, Maria C. Katapodi

doi: 10.1136/jmedgenet-2021-108062

November 08, 2021

Cancer genetics
SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma

Jean Pierre Bayley, Birke Bausch, Jeroen C Jansen, Erik F Hensen, Karin van der Tuin, Eleonora PM Corssmit, Peter Devilee, Hartmut PH Neumann

doi: 10.1136/jmedgenet-2020-107656

November 05, 2021

Diagnostics
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program

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

doi: 10.1136/jmedgenet-2021-107902

October 29, 2021

Diagnostics
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project

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 Genomics England Research Consortium

doi: 10.1136/jmedgenet-2021-108065

October 25, 2021

Cancer genetics
Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to FANCD1/BRCA2 during adulthood: description of an emerging phenotype

Emilia Ip, Catriona McNeil, Peter Grimison, Tahlia Scheinberg, Emma Tudini, Gladys Ho, Rodney J Scott, Christina Brown, Charbel Sandroussi, Pascale Guitera, Amanda B Spurdle, Annabel Goodwin

doi: 10.1136/jmedgenet-2021-108072
Novel disease loci
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality

Rajiv D Machado, Carrie L Welch, Matthias Haimel, Marta Bleda, Elizabeth Colglazier, John D Coulson, Marusa Debeljak, Josef Ekstein, Jeffrey R Fineman, William Christopher Golden, Emily L Griffin, Charaka Hadinnapola, Michael A Harris, Yoel Hirsch, Julie Elizabeth Hoover-Fong, Lawrence Nogee, Lewis H Romer, Samo Vesel, NIHR Bioresource – Rare Diseases, Stefan Gräf, Nicholas W Morrell, Laura Southgate, Wendy K Chung

doi: 10.1136/jmedgenet-2021-107831

September 23, 2021

Cancer genetics
Oncology clinic-based germline genetic testing for exocrine pancreatic cancer enables timely return of results and unveils low uptake of cascade testing

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

doi: 10.1136/jmedgenet-2021-108054

September 20, 2021

Somatic mosaicism
Likely foregut endoderm origin for a postzygotic mutation affecting the RNase IIIb domain of DICER1

Anne-Sophie Chong, Maria Apellaniz-Ruiz, Leanne de Kock, Dorothée Bouron-Dal Soglio, William R Doyle, John R Priest, Barbara Rivera, William D Foulkes

doi: 10.1136/jmedgenet-2021-107887
Position statement
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists

Joanna Lazier, Taila Hartley, Jo-Ann Brock, Oana Caluseriu, David Chitayat, Anne-Marie Laberge, Sylvie Langlois, Julie Lauzon, Tanya N Nelson, Jillian Parboosingh, Dimitri J Stavropoulos, Kym Boycott, Christine M Armour On behalf of the Canadian College of Medical Geneticists

doi: 10.1136/jmedgenet-2021-107897
Genotype-phenotype correlations
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population

Yong-Ping Chen, Shi-Hui Yu, Qian-Qian Wei, Bei Cao, Xiao-Jing Gu, Xue-Ping Chen, Wei Song, Bi Zhao, Ying Wu, Ming-Ming Sun, Fei-Fei Liu, Yan-Bing Hou, Ru-Wei Ou, Ling-Yu Zhang, Kun-Cheng Liu, Jun-Yu Lin, Xin-Ran Xu, Chun-Yu Li, Jing Yang, Zheng Jiang, Jiao Liu, Yang-Fan Cheng, Yi Xiao, Ke Chen, Fei Feng, Ying-Ying Cai, Shi-Rong Li, Tao Hu, Xiao-Qin Yuan, Xiao-Yan Guo, Hui Liu, Qing Han, Qing-Qing Zhou, Na Shao, Jian-Peng Li, Ping-Lei Pan, Sha Ma, Hui-Fang Shang

doi: 10.1136/jmedgenet-2021-107965
Ethics and policy
A step forward, but still inadequate: Australian health professionals’ views on the genetics and life insurance moratorium

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

doi: 10.1136/jmedgenet-2021-107989

September 03, 2021

Developmental defects
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects

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

doi: 10.1136/jmedgenet-2021-107775

August 30, 2021

Phenotypes
Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review

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

doi: 10.1136/jmedgenet-2021-107942

August 27, 2021

Cancer genetics
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma

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

doi: 10.1136/jmedgenet-2020-107652

August 24, 2021

Gametes
Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice

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

doi: 10.1136/jmedgenet-2021-107919

August 16, 2021

Genome-wide studies
Myasthenia gravis genome-wide association study implicates AGRN as a risk locus

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

doi: 10.1136/jmedgenet-2021-107953
Genotype-phenotype correlations
Cardiac myosin binding protein-C variants in paediatric-onset hypertrophic cardiomyopathy: natural history and clinical outcomes

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

doi: 10.1136/jmedgenet-2021-107774
Genotype-phenotype correlations
Genotype–phenotype correlation in arrhythmogenic right ventricular cardiomyopathy—risk of arrhythmias and heart failure

Alex Hørby Christensen, Pyotr G Platonov, Henrik Kjærulf Jensen, Monica Chivulescu, Anneli Svensson, Pia Dahlberg, Trine Madsen, Tanja Charlotte Frederiksen, Tiina Heliö, Øyvind Haugen Lie, Kristina H Haugaa, Jesper Hastrup Svendsen, Henning Bundgaard

doi: 10.1136/jmedgenet-2021-107911

August 10, 2021

Novel disease loci
Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome

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

doi: 10.1136/jmedgenet-2020-107674

August 05, 2021

Genotype-phenotype correlations
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity

Simone Gana, Antonella Casella, Sara Cociglio, Elena Tartara, Elisa Rognone, Elisa Giorgio, Anna Pichiecchio, Simona Orcesi, Enza Maria Valente

doi: 10.1136/jmedgenet-2021-107783
Genotype-phenotype correlations
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis

Maria J Nabais Sá, Kerry A Miller, Mary McQuaid, Nils Koelling, Andrew O M Wilkie, Hugo Wurtele, Arjan P M de Brouwer, Jorge Oliveira

doi: 10.1136/jmedgenet-2020-107572

August 04, 2021

Genotype-phenotype correlations
Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component

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 On behalf of NF2 Spanish National Reference Centre HUGTP-ICO-IGTP

doi: 10.1136/jmedgenet-2020-107548
Cognitive and behavioural genetics
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)

Ellenore M Martin, Ying Zhu, Claudine M Kraan, Kishore R Kumar, David E Godler, Michael Field

doi: 10.1136/jmedgenet-2021-107758

July 28, 2021

Neurogenetics
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy

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

doi: 10.1136/jmedgenet-2021-107884
Neurogenetics
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders

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

doi: 10.1136/jmedgenet-2021-107871
Cognitive and behavioural genetics
O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

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

doi: 10.1136/jmedgenet-2020-107470

July 19, 2021

Cancer genetics
Novel germline variant in the histone demethylase and transcription regulator KDM4C induces a multi-cancer phenotype

Riku Katainen, Iikki Donner, Maritta Räisänen, Davide Berta, Anna Kuosmanen, Eevi Kaasinen, Marja Hietala, Lauri A Aaltonen

doi: 10.1136/jmedgenet-2021-107747
Genotype-phenotype correlations
Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series

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

doi: 10.1136/jmedgenet-2020-107609

June 25, 2021

Cancer genetics
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population

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

doi: 10.1136/jmedgenet-2021-107886

June 18, 2021

Neurogenetics
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive

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

doi: 10.1136/jmedgenet-2021-107843

January 04, 2021

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

doi: 10.1136/jmedgenet-2013-013466corr1

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