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BMJ Journals

Online First

March 22, 2023

Vision science
PSMD3 gene mutations cause pathological myopia

Jing Chen, Ping Lian, Xiujuan Zhao, Jun Li, Xiling Yu, Xia Huang, Shida Chen, Lin Lu

doi: 10.1136/jmg-2022-108978

March 17, 2023

Screening
Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE strategy with UK clinical genetics practitioners

Alison C Kay, Jonathan Wells, Nina Hallowell, Anne Goriely

doi: 10.1136/jmg-2023-109183

March 10, 2023

Genotype-phenotype correlations
Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway

Feng-Yao Wu, Rui-Meng Yang, Hai-Yang Zhang, Ming Zhan, Ping-Hui Tu, Ya Fang, Cao-Xu Zhang, Shi-Yang Song, Mei Dong, Ren-Jie Cui, Xiao-Yu Liu, Liu Yang, Chen-Yan Yan, Feng Sun, Rui-Jia Zhang, Zheng Wang, Jun Liang, Huai-Dong Song, Feng Cheng, Shuang-Xia Zhao

doi: 10.1136/jmg-2022-108866

March 09, 2023

Cancer genetics
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines

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 on behalf of the ClinGen CDH1 Variant Curation Expert Panel

doi: 10.1136/jmg-2022-108807
Cancer genetics
MSH2 is the very young onset ovarian cancer predisposition gene, not BRCA1

Nicola Flaum, Emma J Crosbie, Emma Roisin Woodward, Fiona Lalloo, Robert Morgan, Neil Ryan, D Gareth Evans

doi: 10.1136/jmg-2022-109055
Diagnostics
Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis

Gaurav Joshi, Nancy Beryl Janet Arthur, Thenral S Geetha, Phaneendra Venkateswara Rao Datari, Kirti Modak, Debanjan Roy, Anurag Dutta Chaudhury, Prasanth Sundaraganesan, Sweety Priyanka, Fouzia NA, Vedam Ramprasad, Aby Abraham, Vivi M Srivastava, Alok Srivastava, Uday Prakash Kulkarni, Biju George, Shaji R Velayudhan

doi: 10.1136/jmg-2022-108714

March 08, 2023

Position statement
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)

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 on behalf of the Canadian College of Medical Geneticists

doi: 10.1136/jmg-2022-108962

February 27, 2023

Neurogenetics
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype

Mario Abaji, Cécile Mignon-Ravix, Svetlana Gorokhova, Pierre Cacciagli, Jérémie Mortreux, Florence Molinari, Brigitte Chabrol, Sabine Sigaudy, Laurent Villard, Florence Riccardi

doi: 10.1136/jmg-2022-108677

February 22, 2023

Cancer genetics
Germline pathogenic SMARCA4 variants in neuroblastoma

Leora Witkowski, Kim E. Nichols, Marjolijn Jongmans, Nienke van Engelen, Ronald R de Krijger, Jennifer Herrera-Mullar, Lieve Tytgat, Armita Bahrami, Helen Mar Fan, Aimee L Davidson, Thomas Robertson, Michael Anderson, Martin Hasselblatt, Sharon E. Plon, William D Foulkes

doi: 10.1136/jmg-2022-108854
Copy-number variation
Psychopathology in mothers of children with pathogenic Copy Number Variants

Maria Niarchou, Adam C. Cunningham, Samuel J. R. A. Chawner, Hayley Moulding, Matthew Sopp, IMAGINE-ID, Jeremy Hall, Michael J. Owen, Marianne B.M. van den Bree

doi: 10.1136/jmg-2022-108752
Neurogenetics
Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2

Natalia Ogonowski, Hernando Santamaria-Garcia, Sandra Baez, Andrea Lopez, Andrés Laserna, Elkin Garcia-Cifuentes, Paola Ayala-Ramirez, Ignacio Zarante, Fernando Suarez-Obando, Pablo Reyes, Marcelo Kauffman, Nick Cochran, Michael Schulte, Daniel W Sirkis, Salvatore Spina, Jennifer S Yokoyama, Bruce L Miller, Kenneth S Kosik, Diana Matallana, Agustín Ibáñez

doi: 10.1136/jmg-2022-108627
Phenotypes
Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants

Alexandre Guilhem, Sophie Dupuis-Girod, Olivier Espitia, Sophie Rivière, Julie Seguier, Mallorie Kerjouan, Christian Lavigne, Hélène Maillard, Pascal Magro, Laurent Alric, Dan Lipsker, Antoine Parrot, Vanessa Leguy, Claire Vanlemmens, Laurent Guibaud, Miikka Vikkula, Melanie Eyries, Pierre-Jean Valette, Sophie Giraud

doi: 10.1136/jmg-2022-109107

February 14, 2023

Therapeutics
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes

Derralynn A Hughes, Daniel G Bichet, Roberto Giugliani, Robert J Hopkin, Eva Krusinska, Kathleen Nicholls, Iacopo Olivotto, Ulla Feldt-Rasmussen, Norio Sakai, Nina Skuban, Gere Sunder-Plassmann, Roser Torra, William R Wilcox

doi: 10.1136/jmg-2022-108669
Neurogenetics
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome

Valentina Serpieri, Giulia Mortarini, Hailey Loucks, Tommaso Biagini, Alessia Micalizzi, Ilaria Palmieri, Jennifer C Dempsey, Fulvio D’Abrusco, Concetta Mazzotta, Roberta Battini, Enrico Silvio Bertini, Eugen Boltshauser, Renato Borgatti, Knut Brockmann, Stefano D'Arrigo, Nardo Nardocci, Rita Fischetto, Emanuele Agolini, Antonio Novelli, Alfonso Romano, Romina Romaniello, Franco Stanzial, Sabrina Signorini, Pietro Strisciuglio, Simone Gana, Tommaso Mazza, Dan Doherty, Enza Maria Valente

doi: 10.1136/jmg-2022-108725

January 27, 2023

Screening
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis

Emanuela Abiusi, Alessandro Vaisfeld, Stefania Fiori, Agnese Novelli, Serena Spartano, Maria Vittoria Faggiano, Teresa Giovanniello, Antonio Angeloni, Giovanni Vento, Roberta Santoloci, Francesca Gigli, Adele D'Amico, Simonetta Costa, Alessia Porzi, Mara Panella, Chiara Ticci, Marta Daniotti, Michele Sacchini, Ilaria Boschi, Carlo Dani, Rino Agostiniani, Enrico Bertini, Antonio Lanzone, Giancarlo Lamarca, Maurizio Genuardi, Marika Pane, Maria Alice Donati, Eugenio Mercuri, Francesco Danilo Tiziano on behalf of the Italian SMA-NBS group

doi: 10.1136/jmg-2022-108873
Diagnostics
Parental mosaicism detection and preimplantation genetic testing in families with multiple transmissions of de novo mutations

Naixin Xu, Weihui Shi, Xianling Cao, Xuanyou Zhou, Li Jin, He-Feng Huang, Songchang Chen, Chenming Xu

doi: 10.1136/jmg-2022-108920

January 25, 2023

Neurogenetics
Variants in BSN gene associated with epilepsy with favourable outcome

Tingting Ye, Jiwei Zhang, Jie Wang, Song Lan, Tao Zeng, Huaili Wang, Xuelian He, Bing-Mei Li, Weiwen Deng, Wei-Ping Liao, Xiao-Rong Liu

doi: 10.1136/jmg-2022-108865

January 23, 2023

Genotype-phenotype correlations
Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations

Che-Yuan Kuo, Ming-Yi Chung, Shih-Jen Chen

doi: 10.1136/jmg-2022-108918

January 20, 2023

Therapeutics
Effect of Migalastat on cArdiac Involvement in FabRry Disease: MAIORA study

Antonia Camporeale, Francesco Bandera, Maurizio Pieroni, Federico Pieruzzi, Marco Spada, Anna Bersano, Laura Econimo, Chiara Lanzillo, Marta Rubino, Renzo Mignani, Irene Motta, Iacopo Olivotto, Ilaria Tanini, Rea Valaperta, Kelvin Chow, Irene Baroni, Sara Boveri, Francesca Graziani, Silvia Pica, Lara Tondi, Marco Guazzi, Massimo Lombardi

doi: 10.1136/jmg-2022-108768
Diagnostics
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders

Eva Lenassi, Ana Carvalho, Anja Thormann, Liam Abrahams, Gavin Arno, Tracy Fletcher, Claire Hardcastle, Javier Lopez, Sarah E Hunt, Patrick Short, Panagiotis I Sergouniotis, Michel Michaelides, Andrew Webster, Fiona Cunningham, Simon C Ramsden, Dalia Kasperaviciute, David R Fitzpatrick, Genomics England Research Consortium, Graeme C Black, Jamie M Ellingford

doi: 10.1136/jmg-2022-108618

January 19, 2023

Cancer genetics
Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study

Chenghai Zhang, Dandan Zhu, Yurong Qu, Min Shi, Jingjiao Ma, Yebo Peng, Bowen Zhu, Houquan Tao, Tonghui Ma, TieYing Hou

doi: 10.1136/jmg-2022-108816

January 12, 2023

Neurogenetics
FXN gene methylation determines carrier status in Friedreich ataxia

Christina Lam, Kaitlyn M Gilliam, Layne N Rodden, Kimberly A Schadt, David R Lynch, Sanjay Bidichandani

doi: 10.1136/jmg-2022-108742

January 05, 2023

Neurogenetics
Clinical and genetic features of GATOR1 complex-associated epilepsy

Kaili Yin, Xingxing Lei, Zhaofen Yan, Yujiao Yang, Qinqin Deng, Qiang Lu, Xue Zhang, Mengyang Wang, Qing Liu

doi: 10.1136/jmg-2021-108364
Diagnostics
Reporting clinically relevant genetic variants unrelated to genomic test requests: a survey of Australian clinical laboratory policies and practices

Emma Tudini, Matilda A Haas, Tessa Mattiske, Amanda B Spurdle

doi: 10.1136/jmg-2022-108808

January 04, 2023

Neurogenetics
Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes

Jean-Loup Méreaux, Claire-Sophie Davoine, Marie Coutelier, Léna Guillot-Noël, Anna Castrioto, Perrine Charles, Giulia Coarelli, Claire Ewenczyk, Stephan Klebe, Anna Heinzmann, Aurélie Méneret, Anne-Laure Fauret-Amsellem, Jean-Madeleine de Sainte Agathe, Alexis Brice, Alexandra Durr

doi: 10.1136/jmg-2022-108924
Cancer genetics
Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation

D Gareth Evans, George J Burghel, Miriam Jane Smith

doi: 10.1136/jmg-2022-108960

January 02, 2023

Cancer genetics
Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome

Vincent Schwenk, Rafaela Magalhaes Leal Silva, Florentine Scharf, Katharina Knaust, Martin Wendlandt, Tanja Häusser, Julia M A Pickl, Verena Steinke-Lange, Andreas Laner, Monika Morak, Elke Holinski-Feder, Dieter A Wolf

doi: 10.1136/jmg-2022-108931
Gametes
Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA

Shixiong Tian, Chaofeng Tu, Xiaojin He, Lanlan Meng, Jiaxiong Wang, Shuyan Tang, Yang Gao, Chunyu Liu, Huan Wu, Yiling Zhou, Mingrong Lv, Ge Lin, Li Jin, Yunxia Cao, Dongdong Tang, Feng Zhang, Yue-Qiu Tan

doi: 10.1136/jmg-2022-108887

December 29, 2022

Neurogenetics
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder

Reza Maroofian, Stephanie Efthymiou, Mohnish Suri, Fatima Rahman, Maha S Zaki, Shazia Maqbool, Najwa Anwa, Victor L Ruiz-Pérez, Shira Yanovsky-Dagan, Orly Elpeleg, Sniya Sudhakar, Kshitij Mankad, Tamar Harel, Henry Houlden

doi: 10.1136/jmg-2022-108566

December 26, 2022

Population genetics
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996–2020: development of a national resource of patient-level genomics laboratory records

Lucy Loong, Catherine Huntley, Fiona McRonald, Francesco Santaniello, Joanna Pethick, Bethany Torr, Sophie Allen, Oliver Tulloch, Shilpi Goel, Brian Shand, Tameera Rahman, Margreet Luchtenborg, Alice Garrett, Richard Barber, Tina Bedenham, David Bourn, Kirsty Bradshaw, Claire Brooks, Jonathan Bruty, George J Burghel, Samantha Butler, Chris Buxton, Alison Callaway, Jonathan Callaway, James Drummond, Miranda Durkie, Joanne Field, Lucy Jenkins, Terri P McVeigh, Roger Mountford, Rodney Nyanhete, Evgenia Petrides, Rachel Robinson, Tracy Scott, Victoria Stinton, James Tellez, Andrew J Wallace, Laura Yarram-Smith, Kate Sahan, Nina Hallowell, Diana M Eccles, Paul Pharoah, Marc Tischkowitz, Antonis C Antoniou, D Gareth Evans, Fiona Lalloo, Gail Norbury, Eva Morris, John Burn, Steven Hardy, Clare Turnbull

doi: 10.1136/jmg-2022-108800

December 23, 2022

Cancer genetics
Development of a comprehensive approach to adult hereditary cancer testing in Ontario

Kathleen Anne Bell, Raymond Kim, Melyssa Aronson, Brittany Gillies, Arif Ali Awan, Kathy Chun, Jennifer Hart, Rachel Healey, Linda Kim, Goran Klaric, Karen Panabaker, Peter J B Sabatini, Bekim Sadikovic, Shamini Selvarajah, Amanda C Smith, Tracy L Stockley, Andrea K Vaags, Andrea Eisen, Aaron Pollett, Harriet Feilotter

doi: 10.1136/jmg-2022-108945

December 21, 2022

Developmental defects
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function

Rebecca S Tooze, Eduardo Calpena, Stephen R F Twigg, Felice D’Arco, The Genomics England Research Consortium, Emma L Wakeling, Andrew O M Wilkie

doi: 10.1136/jmg-2022-108946
Novel disease loci
Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes

Beyhan Tuysuz, Dilek Uludag Alkaya, Filiz Geyik, Merve Alaylıoğlu, Busra Kasap, Sebuh Kurugoğlu, Yunus Emre Akman, Mehmet Vural, Kaya Bilguvar

doi: 10.1136/jmg-2022-108763

December 20, 2022

Cancer genetics
Population-based analysis of POT1 variants in a cutaneous melanoma case–control cohort

Irving Simonin-Wilmer, Raul Ossio, Emmett M Leddin, Mark Harland, Karen A Pooley, Mauricio Gerardo Martil de la Garza, Sofia Obolenski, James Hewinson, Chi C Wong, Vivek Iyer, John C Taylor, Julia A Newton-Bishop, D Timothy Bishop, Gerardo Andrés Cisneros, Mark M Iles, David J Adams, Carla Daniela Robles-Espinoza

doi: 10.1136/jmg-2022-108776

December 19, 2022

Diagnostics
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events

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

doi: 10.1136/jmg-2022-108828

December 08, 2022

Screening
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples

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

doi: 10.1136/jmg-2022-108607

November 30, 2022

Population genetics
Public willingness to participate in population DNA screening in Australia

Jane M Tiller, Andrew Bakshi, Adam R Brotchie, Robert C Green, Ingrid M Winship, Paul Lacaze

doi: 10.1136/jmg-2022-108921

November 29, 2022

Genotype-phenotype correlations
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients

Elena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona, Saoud Tahsin Swafiri, Rosario Lopez-Rodriguez, Rebeca Losada-Del Pozo, Ignacio Mahillo-Fernandez, Beatriz Moreno, Maria Rodrigo-Moreno, Didac Casas-Alba, Aitor Lopez-Gonzalez, Sixto García-Miñaúr, Maria Ángeles Mori, Marta Pacio-Minguez, Emi Rikeros-Orozco, Fernando Santos-Simarro, Jaime Cruz-Rojo, Juan Francisco Quesada-Espinosa, Maria Teresa Sanchez-Calvin, Jaime Sanchez-del Pozo, Raquel Bernado Fonz, Maria Isidoro-Garcia, Irene Ruiz-Ayucar, Maria Isabel Alvarez-Mora, Raquel Blanco-Lago, Begoña De Azua, Jesus Eiris, Juan Jose Garcia-Peñas, Belen Gil-Fournier, Carmen Gomez-Lado, Nadia Irazabal, Vanessa Lopez-Gonzalez, Irene Madrigal, Ignacio Malaga, Beatriz Martinez-Menendez, Soraya Ramiro-Leon, Maria Garcia-Hoyos, Pablo Prieto-Matos, Javier Lopez-Pison, Sergio Aguilera-Albesa, Sara Alvarez, Alberto Fernández-Jaén, Isabel Llano-Rivas, Blanca Gener-Querol, Carmen Ayuso, Ana Arteche-Lopez, Maria Palomares-Bralo, Anna Cueto-González, Irene Valenzuela, Antonio Martinez-Monseny, Isabel Lorda-Sanchez, Berta Almoguera

doi: 10.1136/jmg-2022-108632
Cancer genetics
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders

Estela Carrasco, Adrià López-Fernández, Marta Codina-Sola, Irene Valenzuela, AM Cueto-González, Guillermo Villacampa, Victor Navarro, Sara Torres-Esquius, Dolors Palau, Mara Cruellas, Maite Torres, Belen Perez-Dueñas, Anna Abulí, Orland Diez, Constantino Sábado-Álvarez, Elena García-Arumí, Eduardo F Tizzano, Lucas Moreno, Judith Balmaña

doi: 10.1136/jmg-2022-108929
Novel disease loci
Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects

Fanlei Meng, Xin Li, Jinlu Zhang, Zhiyang Gao, Xue Yang, Ziqi Liu, Yajie Liu, Tong Guo, Likun Wang, Liping Yang, Zhaohui Wang

doi: 10.1136/jmg-2022-108506

November 28, 2022

Cancer genetics
Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers

D Gareth Evans, Siva Sithambaram, Elke Maria van Veen, George J Burghel, Helene Schlecht, Elaine F Harkness, Helen Byers, Jamie M Ellingford, Ashu Gandhi, Sacha J Howell, Anthony Howell, Claire Forde, Fiona Lalloo, William G Newman, Miriam Jane Smith, Emma Roisin Woodward

doi: 10.1136/jmg-2022-108790

November 21, 2022

Copy-number variation
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

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

doi: 10.1136/jmg-2022-108678
Cancer genetics
High yield of surveillance in patients diagnosed with constitutional mismatch repair deficiency

Zeinab Ghorbanoghli, Mariëtte van Kouwen, Birgitta Versluys, Delphine Bonnet, Christine Devalck, Julie Tinat, Danuta Januszkiewicz-Lewandowska, Consuelo Calvino Costas, Edouard Cottereau, James C H Hardwick, Katharina Wimmer, Laurence Brugieres, Chrystelle Colas, Hans F A Vasen

doi: 10.1136/jmg-2022-108829
Position statement
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2

Helen Hanson, Anjana Kulkarni, Lucy Loong, Grace Kavanaugh, Bethany Torr, Sophie Allen, Munaza Ahmed, Antonis C Antoniou, Ruth Cleaver, Tabib Dabir, D Gareth Evans, Ellen Golightly, Rosalyn Jewell, Kelly Kohut, Ranjit Manchanda, Alex Murray, Jennie Murray, Kai-Ren Ong, Adam N Rosenthal, Emma Roisin Woodward, Diana M Eccles, Clare Turnbull, Marc Tischkowitz, On behalf of Consensus meeting attendees, Fiona Lalloo

doi: 10.1136/jmg-2022-108898
Structural variation
Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1

Alistair T Pagnamenta, Jing Yu, Julie Evans, Philip Twiss, Genomics England Research Consortium, Musculoskeletal GeCIP MDT, Amaka C Offiah, Mohamed Wafik, Sarju G Mehta, Mohammed K Javaid, Sarah F Smithson, Jenny C Taylor

doi: 10.1136/jmg-2022-108753

November 15, 2022

Genotype-phenotype correlations
Characterising heart rhythm abnormalities associated with Xp22.31 deletion

Georgina Wren, Emily Baker, Jack Underwood, Trevor Humby, Andrew Thompson, George Kirov, Valentina Escott-Price, William Davies

doi: 10.1136/jmg-2022-108862
Developmental defects
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems

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

doi: 10.1136/jmg-2022-108738

November 10, 2022

Genotype-phenotype correlations
Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement

Sonal Mahajan, Bobby George Ng, Lama AlAbdi, Paul Daniel James Earnest, Paulina Sosicka, Nisha Patel, Rana Helaby, Firdous Abdulwahab, Miao He, Fowzan S Alkuraya, Hudson H Freeze

doi: 10.1136/jmg-2022-108821

November 03, 2022

Cognitive and behavioural genetics
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2

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

doi: 10.1136/jmg-2022-108734

November 01, 2022

Cancer genetics
The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2

Sue Philpott, Maria Raikou, Ranjit Manchanda, Michelle Lockley, Naveena Singh, Malcolm Scott, D Gareth Evans, Julian Adlard, Munaza Ahmed, Richard Edmondson, Emma Roisin Woodward, Athena Lamnisos, Janos Balega, Angela F Brady, Aarti Sharma, Louise Izatt, Anjana Kulkarni, Vishakha Tripathi, Joyce S Solomons, Kevin Hayes, Helen Hanson, Katie Snape, Lucy Side, Steve Skates, Alistair McGuire, Adam N Rosenthal

doi: 10.1136/jmg-2022-108741

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