Journal of medical genetics

Keyphrases

Publications

volume 61, number 8, 2024

Liheng Chen, Shuoyang Zhao, Wenxia Song, Lihong Wang, Zerong Yao, Jianfei Gao, Xiaoze Li
Heterozygous deletion of HOXC10-HOXC9 causes lower limb abnormalities in congenital vertical talus. Journal of medical genetics 61 (8) (2024)
Jianhai Chen, Yangying Jia, Jie Zhong, Kun Zhang, Hongzheng Dai, Guanglin He, Fuping Li, Li Zeng, Chuanzhu Fan, Huayan Xu
Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism. Journal of medical genetics 61 (8) (2024)
Anna Abulí, Eugenia Antolín, Antoni Borrell, Maria Garcia-Hoyos, Fe García Santiago, Irene Gómez Manjón, Nerea Maíz, Cristina González González, Laia Rodríguez-Revenga, Maria Irene Valenzuela Palafoll, Javier Suela
Guidelines for NGS procedures applied to prenatal diagnosis by the Spanish Society of Gynecology and Obstetrics and the Spanish Association of Prenatal Diagnosis. Journal of medical genetics 61 (8) (2024)
Paras A Patel, Leslie E W LaConte, Chen Liang, Thomas Cecere, Deepa Rajan, Sarika Srivastava, Konark Mukherjee
Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein. Journal of medical genetics 61 (8) (2024)
Terri Patricia McVeigh, Fiona Lalloo, Ian M Frayling, Andrew Latchford, Katie Snape, Miranda Durkie, Kevin J Monahan, Helen Hanson
Challenges in developing and implementing international best practice guidance for intermediate-risk variants in cancer susceptibility genes: APC c.3920T>A p.(Ile1307Lys) as an exemplar. Journal of medical genetics 61 (8) (2024)
Xin Yang, Thea M Mooij, Goska Leslie, Lorenzo Ficorella, Nadine Andrieu, Karin Kast, Christian F Singer, Anna Jakubowska, Carla H van Gils, Yen Y Tan, Christoph Engel, Muriel A Adank, Christi J van Asperen, Margreet G E M Ausems, Pascaline Berthet, null null, Margriet J Collee, Jackie A Cook, Jacqueline Eason, Karin Y van Spaendonck-Zwarts, D Gareth Evans, Encarna B Gómez García, Helen Hanson, Louise Izatt, Zoe Kemp, Fiona Lalloo, Christine Lasset, Fabienne Lesueur, Hannah Musgrave, Sophie Nambot, Catherine Noguès, Jan C Oosterwijk, Dominique Stoppa-Lyonnet, Marc Tischkowitz, Vishakha Tripathi, Marijke R Wevers, Emily Zhao, Flora E van Leeuwen, Marjanka K Schmidt, Douglas F Easton, Matti A Rookus, Antonis C Antoniou
Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers. Journal of medical genetics 61 (8) (2024)
Xin Yang, Thea M Mooij, Goska Leslie, Lorenzo Ficorella, Nadine Andrieu, Karin Kast, Christian F Singer, Anna Jakubowska, Carla H van Gils, Yen Y Tan, Christoph Engel, Muriel A Adank, Christi J van Asperen, Margreet G E M Ausems, Pascaline Berthet, null null, Margriet J Collee, Jackie A Cook, Jacqueline Eason, Karin Y van Spaendonck-Zwarts, D Gareth Evans, Encarna B Gómez García, Helen Hanson, Louise Izatt, Zoe Kemp, Fiona Lalloo, Christine Lasset, Fabienne Lesueur, Hannah Musgrave, Sophie Nambot, Catherine Noguès, Jan C Oosterwijk, Dominique Stoppa-Lyonnet, Marc Tischkowitz, Vishakha Tripathi, Marijke R Wevers, Emily Zhao, Flora E van Leeuwen, Marjanka K Schmidt, Douglas F Easton, Matti A Rookus, Antonis C Antoniou
Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers. Journal of medical genetics 61 (8) (2024)
Paras A Patel, Leslie E W LaConte, Chen Liang, Thomas Cecere, Deepa Rajan, Sarika Srivastava, Konark Mukherjee
Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein. Journal of medical genetics 61 (8) (2024)
Terri Patricia McVeigh, Fiona Lalloo, Kevin J Monahan, Andrew Latchford, Miranda Durkie, Rachael Mein, Andrew H Crosby, Helen Hanson
Carrier testing for partners of MUTYH variant carriers: UK Cancer Genetics Group recommendations. Journal of medical genetics 61 (8) (2024)
Paras A Patel, Leslie E W LaConte, Chen Liang, Thomas Cecere, Deepa Rajan, Sarika Srivastava, Konark Mukherjee
Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein. Journal of medical genetics 61 (8) (2024)
Terri Patricia McVeigh, Fiona Lalloo, Ian M Frayling, Andrew Latchford, Katie Snape, Miranda Durkie, Kevin J Monahan, Helen Hanson
Challenges in developing and implementing international best practice guidance for intermediate-risk variants in cancer susceptibility genes: APC c.3920T>A p.(Ile1307Lys) as an exemplar. Journal of medical genetics 61 (8) (2024)
Jianhai Chen, Yangying Jia, Jie Zhong, Kun Zhang, Hongzheng Dai, Guanglin He, Fuping Li, Li Zeng, Chuanzhu Fan, Huayan Xu
Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism. Journal of medical genetics 61 (8) (2024)
Adi Reches, Vered Ofen Glassner, Nurit Goldstein, Josepha Yeshaya, Galit Delmar, Ellie Portugali, Tova Hallas, Amit Weinstein, Alina Kurolap, Michal Berkenstadt, Tal Mantsour, Liat Abu-Gutstein, Liat Ries-Levavi, Haike Reznik-Wolf, Doron Moshe Behar, Yuval Yaron, Elon Pras, Hagit Baris Feldman
Expanded targeted preconception screening panel in Israel: findings and insights. Journal of medical genetics 61 (8) (2024)
Bushra Haque, George Guirguis, Meredith Curtis, Hera Mohsin, Susan Walker, Michelle M Morrow, Gregory Costain
A comparative medical genomics approach may facilitate the interpretation of rare missense variation. Journal of medical genetics 61 (8) (2024)
Shuo Zhang, Zhenle Pei, Min Xiao, Jing Zhou, Bin Hu, Saijuan Zhu, Xiaoxi Sun, Junping Wu, Caixia Lei, Congjian Xu
Comprehensive preimplantation genetic testing for balanced insertional translocation carriers. Journal of medical genetics 61 (8) (2024)
Terri Patricia McVeigh, Fiona Lalloo, Kevin J Monahan, Andrew Latchford, Miranda Durkie, Rachael Mein, Andrew H Crosby, Helen Hanson
Carrier testing for partners of MUTYH variant carriers: UK Cancer Genetics Group recommendations. Journal of medical genetics 61 (8) (2024)
Claire Caillot, Jean-Christophe Saurin, Valérie Hervieu, Marie Faoucher, Julie Reversat, Evelyne Decullier, Gilles Poncet, Sabine Bailly, Sophie Giraud, Sophie Dupuis-Girod
Phenotypic characterisation of SMAD4 variant carriers. Journal of medical genetics 61 (8) (2024)
Terri Patricia McVeigh, Fiona Lalloo, Kevin J Monahan, Andrew Latchford, Miranda Durkie, Rachael Mein, Andrew H Crosby, Helen Hanson
Carrier testing for partners of MUTYH variant carriers: UK Cancer Genetics Group recommendations. Journal of medical genetics 61 (8) (2024)
Elan Hahn, Chloe Mighton, Yael Fisher, Andrew Wong, Vanessa Di Gioacchino, Nicholas Watkins, Justin Mayers, Yvonne Bombard, George S Charames, Jordan Lerner- Ellis
Variant classification changes over time in the clinical molecular diagnostic laboratory setting. Journal of medical genetics 61 (8) (2024)
Claire Caillot, Jean-Christophe Saurin, Valérie Hervieu, Marie Faoucher, Julie Reversat, Evelyne Decullier, Gilles Poncet, Sabine Bailly, Sophie Giraud, Sophie Dupuis-Girod
Phenotypic characterisation of SMAD4 variant carriers. Journal of medical genetics 61 (8) (2024)

volume 61, number 9, 2024

Ellie J Maas, Emily DeBortoli, Vaishnavi Nathan, Ned P Freeman, Adam Mothershaw, Darren J Smit, Brigid Betz-Stablein, Lauren G Aoude, Mitchell S Stark, Richard A Sturm, Hans Peter Soyer, Aideen M McInerney-Leo
POT1 and multiple primary melanomas: the dermatological phenotype. Journal of medical genetics 61 (9) (2024)
Camille Tremblay-Laganière, Coralie Michaud, Raphaël Abourjaili-Bilodeau, Alicia Cabezas, José Canales, María Jesús Costas, João M Ribeiro, Jessica Leclerc-Blain, Fabien Touzot, Elie Haddad, Pierre Teira, Michel Duval, Alexandros Onoufriadis, Brigitte Meunier, José Carlos Cameselle, Philippe M Campeau
Homozygous variant in TKFC abolishing triokinase activities is associated with isolated immunodeficiency. Journal of medical genetics 61 (9) (2024)
Vicken Y Totten, Gisela Teixidó, Fermina Lopez-Grondona, Paula Fernandez-Alvarez, Amaia Lasa-Aranzasti, Patricia Muñoz-Cabello, Rika Kosaki, Eduardo F Tizzano, Wendy Dewals, Emma Borràs, Elena Gonzalez Cañas, Berta Almoguera, Bart L Loeys, Maria Irene Valenzuela Palafoll
Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome. Journal of medical genetics 61 (9) (2024)
Claire Forde, Miriam Jane Smith, George Joseph Burghel, Naomi Bowers, Nicola Roberts, Tim Lavin, Jane Halliday, Andrew Thomas King, Scott Rutherford, Omar N Pathmanaban, Simon Lloyd, Simon Freeman, Dorothy Halliday, Allyson Parry, Patrick Axon, Juliette J Gair, Shazia Afridi, Rupert Obholzer, Roger Laitt, Owen Thomas, Stavros Michael Stivaros, Grace Vassallo, Dafydd Gareth Evans
NF2 -related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study. Journal of medical genetics 61 (9) (2024)
Silvestre Cuinat, Chloé Quélin, Claire Effray, Christèle Dubourg, Gwenaelle Le Bouar, Anne-Sophie Cabaret-Dufour, Philippe Loget, Maia Proisy, Fanny Sauvestre, Mélie Sarreau, Sophie Martin-Berenguer, Claire Beneteau, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Aurélien Trimouille, Pierre Macé, Sabine Sigaudy, Olga Glazunova, Julia Torrents, Laure Raymond, Marie-Hélène Saint-Frison, Tania Attié-Bitach, Mathilde Becmeur-Lefebvre, Yline Capri, Nicolas Bourgon, Christel Thauvin-Robinet, Frédéric Tran Mau Them, Ange-Line Bruel, Antonio Vitobello, Anne Sophie Denommé-Pichon, Laurence Olivier-Faivre, Anne-Claire Brehin, Alice Goldenberg, Sophie Patrier-Sallebert, Alexandre Perani, Benjamin Dauriat, Sylvie Bourthoumieu, Catherine Yardin, Valentine Marquet, Marion Barnique, Maryse Fiorenza-Gasq, Isabelle Marey, Danielle Tournadre, Raïa Doumit, Frédérique Nugues, Tahsin Stefan Barakat, Francisco Bustos, Sylvie Jaillard, Erika Launay, Laurent Pasquier, Sylvie Odent
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective. Journal of medical genetics 61 (9) (2024)
Laura Hecher, Esther Gorski-Alberts, Matthias Begemann, Johanna Herwig, Eva Lausberg, Georg Hillebrand, Alexander E Volk, Ingo Kurth, Florian Kraft, Kerstin Kutsche
Complex structural variation and nonsense variant in trans cause VPS50 -related disorder. Journal of medical genetics 61 (9) (2024)
Dafydd Gareth Evans, George Joseph Burghel, Sacha J Howell, Sarah Pugh, Claire Forde, Anthony Howell, Fiona Lalloo, Emma Roisin Woodward
Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2 . Journal of medical genetics 61 (9) (2024)
Johana Kopčilová, Hana Ptáčková, Tereza Kramářová, Lenka Fajkusová, Kamila Réblová, Jiří Zeman, Tomáš Honzík, Lucie Zdražilová, Josef Zámečník, Patrícia Balážová, Karin Viestová, Miriam Kolníková, Hana Hansikova, Jana Zídková
Large TRAPPC11 gene deletions as a cause of muscular dystrophy and their estimated genesis. Journal of medical genetics 61 (9) (2024)
Qirui Jiang, Junyu Lin, Qianqian Wei, Tianmi Yang, Yanbing Hou, Lingyu Zhang, Ruwei Ou, Yi Xiao, Shichan Wang, Xiaoting Zheng, Chunyu Li, Hui Fang Shang
Amyotrophic lateral sclerosis patients with various gene mutations show diverse motor phenotypes and survival in China. Journal of medical genetics 61 (9) (2024)
Laura Hecher, Esther Gorski-Alberts, Matthias Begemann, Johanna Herwig, Eva Lausberg, Georg Hillebrand, Alexander E Volk, Ingo Kurth, Florian Kraft, Kerstin Kutsche
Complex structural variation and nonsense variant in trans cause VPS50 -related disorder. Journal of medical genetics 61 (9) (2024)
Alessandro Geroldi, Alessia Mammi, Andrea Gaudio, Serena Patrone, Andrea La Barbera, Paola Origone, Clarissa Ponti, Francesca Sanguineri, Sara Massucco, Lucio Marinelli, Marina Grandis, Angelo Schenone, Paola Mandich, Emilia Bellone, Fabio Gotta
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation. Journal of medical genetics 61 (9) (2024)
Dafydd Gareth Evans, George Joseph Burghel, Sacha J Howell, Sarah Pugh, Claire Forde, Anthony Howell, Fiona Lalloo, Emma Roisin Woodward
Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2 . Journal of medical genetics 61 (9) (2024)
Qirui Jiang, Junyu Lin, Qianqian Wei, Tianmi Yang, Yanbing Hou, Lingyu Zhang, Ruwei Ou, Yi Xiao, Shichan Wang, Xiaoting Zheng, Chunyu Li, Hui Fang Shang
Amyotrophic lateral sclerosis patients with various gene mutations show diverse motor phenotypes and survival in China. Journal of medical genetics 61 (9) (2024)
Steven Smeijers, Hilde Brems, Alexander Verhaeghe, Wim van Paesschen, Johannes Van Loon, Seppe Van der Auweraer, Raf M E Sciot, Dietmar Rudolf Thal, Lieven Lagae, Eric Legius, Tom Theys
Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the NF1 gene. Journal of medical genetics 61 (9) (2024)
Hortense Thomas, Tom Alix, Émeline Renard, Mathilde Renaud, Justine Wourms, Stéphane Zuily, Bruno Leheup, David Geneviève, Natacha Dreumont, Emmanuelle Schmitt, Myriam Bronner, Marc Muller, Marion Divoux, Marion Wandzel, Jean-Marie Ravel, Mylène Dexheimer, Aurélie Becker, Virginie Roth, Marjolaine Willems, Christine Coubes, Gaëlle Vieville, Françoise Devillard, Élise Schaefer, Sarah Baer, Amelie Piton, Bénédicte Gérard, Marie Vincent, Mathilde Nizon, Benjamin Cogné, Lyse Ruaud, Nathalie Couque, Audrey Putoux, Patrick Edery, Gaëtan Lesca, Nicolas Chatron, Marianne Till, Laurence Olivier-Faivre, Frédéric Tran-Mau-Them, Jean-Luc Alessandri, Marine Lebrun, Chloé Quélin, Sylvie Odent, Christèle Dubourg, Véronique David, Marie Faoucher, Cyril Mignot, Boris Keren, Élise Pisan, Alexandra Afenjar, Sophie Julia, Éric Bieth, Guillaume Banneau, Alice Goldenberg, Thomas Husson, Dominique Campion, Francois Lecoquierre, Gaël Nicolas, Camille Charbonnier, Anne De Saint Martin, Sophie Naudion, Manon Degoutin, Sophie Rondeau, Caroline Michot, Valérie Cormier-Daire, Abderrahim Oussalah, Carine Pourié, Laëtitia Lambert, Céline Bonnet
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients. Journal of medical genetics 61 (9) (2024)
Huw Dorkins
JMG at 60. Journal of medical genetics 61 (9) (2024)
Hortense Thomas, Tom Alix, Émeline Renard, Mathilde Renaud, Justine Wourms, Stéphane Zuily, Bruno Leheup, David Geneviève, Natacha Dreumont, Emmanuelle Schmitt, Myriam Bronner, Marc Muller, Marion Divoux, Marion Wandzel, Jean-Marie Ravel, Mylène Dexheimer, Aurélie Becker, Virginie Roth, Marjolaine Willems, Christine Coubes, Gaëlle Vieville, Françoise Devillard, Élise Schaefer, Sarah Baer, Amelie Piton, Bénédicte Gérard, Marie Vincent, Mathilde Nizon, Benjamin Cogné, Lyse Ruaud, Nathalie Couque, Audrey Putoux, Patrick Edery, Gaëtan Lesca, Nicolas Chatron, Marianne Till, Laurence Olivier-Faivre, Frédéric Tran-Mau-Them, Jean-Luc Alessandri, Marine Lebrun, Chloé Quélin, Sylvie Odent, Christèle Dubourg, Véronique David, Marie Faoucher, Cyril Mignot, Boris Keren, Élise Pisan, Alexandra Afenjar, Sophie Julia, Éric Bieth, Guillaume Banneau, Alice Goldenberg, Thomas Husson, Dominique Campion, Francois Lecoquierre, Gaël Nicolas, Camille Charbonnier, Anne De Saint Martin, Sophie Naudion, Manon Degoutin, Sophie Rondeau, Caroline Michot, Valérie Cormier-Daire, Abderrahim Oussalah, Carine Pourié, Laëtitia Lambert, Céline Bonnet
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients. Journal of medical genetics 61 (9) (2024)
Johana Kopčilová, Hana Ptáčková, Tereza Kramářová, Lenka Fajkusová, Kamila Réblová, Jiří Zeman, Tomáš Honzík, Lucie Zdražilová, Josef Zámečník, Patrícia Balážová, Karin Viestová, Miriam Kolníková, Hana Hansikova, Jana Zídková
Large TRAPPC11 gene deletions as a cause of muscular dystrophy and their estimated genesis. Journal of medical genetics 61 (9) (2024)
Silvestre Cuinat, Chloé Quélin, Claire Effray, Christèle Dubourg, Gwenaelle Le Bouar, Anne-Sophie Cabaret-Dufour, Philippe Loget, Maia Proisy, Fanny Sauvestre, Mélie Sarreau, Sophie Martin-Berenguer, Claire Beneteau, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Aurélien Trimouille, Pierre Macé, Sabine Sigaudy, Olga Glazunova, Julia Torrents, Laure Raymond, Marie-Hélène Saint-Frison, Tania Attié-Bitach, Mathilde Becmeur-Lefebvre, Yline Capri, Nicolas Bourgon, Christel Thauvin-Robinet, Frédéric Tran Mau Them, Ange-Line Bruel, Antonio Vitobello, Anne Sophie Denommé-Pichon, Laurence Olivier-Faivre, Anne-Claire Brehin, Alice Goldenberg, Sophie Patrier-Sallebert, Alexandre Perani, Benjamin Dauriat, Sylvie Bourthoumieu, Catherine Yardin, Valentine Marquet, Marion Barnique, Maryse Fiorenza-Gasq, Isabelle Marey, Danielle Tournadre, Raïa Doumit, Frédérique Nugues, Tahsin Stefan Barakat, Francisco Bustos, Sylvie Jaillard, Erika Launay, Laurent Pasquier, Sylvie Odent
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective. Journal of medical genetics 61 (9) (2024)
Claire Forde, Miriam Jane Smith, George Joseph Burghel, Naomi Bowers, Nicola Roberts, Tim Lavin, Jane Halliday, Andrew Thomas King, Scott Rutherford, Omar N Pathmanaban, Simon Lloyd, Simon Freeman, Dorothy Halliday, Allyson Parry, Patrick Axon, Juliette J Gair, Shazia Afridi, Rupert Obholzer, Roger Laitt, Owen Thomas, Stavros Michael Stivaros, Grace Vassallo, Dafydd Gareth Evans
NF2 -related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study. Journal of medical genetics 61 (9) (2024)
Vicken Y Totten, Gisela Teixidó, Fermina Lopez-Grondona, Paula Fernandez-Alvarez, Amaia Lasa-Aranzasti, Patricia Muñoz-Cabello, Rika Kosaki, Eduardo F Tizzano, Wendy Dewals, Emma Borràs, Elena Gonzalez Cañas, Berta Almoguera, Bart L Loeys, Maria Irene Valenzuela Palafoll
Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome. Journal of medical genetics 61 (9) (2024)
Alessandro Geroldi, Alessia Mammi, Andrea Gaudio, Serena Patrone, Andrea La Barbera, Paola Origone, Clarissa Ponti, Francesca Sanguineri, Sara Massucco, Lucio Marinelli, Marina Grandis, Angelo Schenone, Paola Mandich, Emilia Bellone, Fabio Gotta
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation. Journal of medical genetics 61 (9) (2024)
Wang Song, Wen-Jun Bian, Hua Li, Qing-Hui Guo, Jie Wang, Bin Tang, Jia-Yuan Zhang, Wei Wei, Xiao-Rong Liu, Wei-Ping Liao, Bin Li, Na He
IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures. Journal of medical genetics 61 (9) (2024)
Camille Tremblay-Laganière, Coralie Michaud, Raphaël Abourjaili-Bilodeau, Alicia Cabezas, José Canales, María Jesús Costas, João M Ribeiro, Jessica Leclerc-Blain, Fabien Touzot, Elie Haddad, Pierre Teira, Michel Duval, Alexandros Onoufriadis, Brigitte Meunier, José Carlos Cameselle, Philippe M Campeau
Homozygous variant in TKFC abolishing triokinase activities is associated with isolated immunodeficiency. Journal of medical genetics 61 (9) (2024)
Ellie J Maas, Emily DeBortoli, Vaishnavi Nathan, Ned P Freeman, Adam Mothershaw, Darren J Smit, Brigid Betz-Stablein, Lauren G Aoude, Mitchell S Stark, Richard A Sturm, Hans Peter Soyer, Aideen M McInerney-Leo
POT1 and multiple primary melanomas: the dermatological phenotype. Journal of medical genetics 61 (9) (2024)
Eilidh Fummey, Pau Navarro, John-Paul Plazzer, Ian M Frayling, Sara Knott, Albert Tenesa
Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank. Journal of medical genetics 61 (9) (2024)
Eilidh Fummey, Pau Navarro, John-Paul Plazzer, Ian M Frayling, Sara Knott, Albert Tenesa
Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank. Journal of medical genetics 61 (9) (2024)
Steven Smeijers, Hilde Brems, Alexander Verhaeghe, Wim van Paesschen, Johannes Van Loon, Seppe Van der Auweraer, Raf M E Sciot, Dietmar Rudolf Thal, Lieven Lagae, Eric Legius, Tom Theys
Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the NF1 gene. Journal of medical genetics 61 (9) (2024)
Huw Dorkins
JMG at 60. Journal of medical genetics 61 (9) (2024)
Wang Song, Wen-Jun Bian, Hua Li, Qing-Hui Guo, Jie Wang, Bin Tang, Jia-Yuan Zhang, Wei Wei, Xiao-Rong Liu, Wei-Ping Liao, Bin Li, Na He
IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures. Journal of medical genetics 61 (9) (2024)