Online First

July 09, 2020

July 06, 2020

June 26, 2020

  • Genotype-phenotype correlations
    Polygenic and multifactorial scores for pancreatic ductal adenocarcinoma risk prediction
    Alice Alessandra Galeotti, Manuel Gentiluomo, Cosmeri Rizzato, Ofure Obazee, John P Neoptolemos, Claudio Pasquali, Michael Nentwich, Giulia Martina Cavestro, Raffaele Pezzilli, William Greenhalf, Bernd Holleczek, Cornelia Schroeder, Ben Schöttker, Audrius Ivanauskas, Laura Ginocchi, Timothy J Key, Péter Hegyi, Livia Archibugi, Erika Darvasi, Daniela Basso, Cosimo Sperti, Maarten F Bijlsma, Orazio Palmieri, Viktor Hlavac, Renata Talar-Wojnarowska, Beatrice Mohelnikova-Duchonova, Thilo Hackert, Yogesh Vashist, Ondrej Strouhal, Hanneke van Laarhoven, Francesca Tavano, Martin Lovecek, Christos Dervenis, Ferenc Izbéki, Andrea Padoan, Ewa Małecka-Panas, Evaristo Maiello, Giuseppe Vanella, Gabriele Capurso, Jakob R Izbicki, George E Theodoropoulos, Krzysztof Jamroziak, Verena Katzke, Rudolf Kaaks, Andrea Mambrini, Ioannis S Papanikolaou, Richárd Szmola, Andrea Szentesi, Juozas Kupcinskas, Simona Bursi, Eithne Costello, Ugo Boggi, Anna Caterina Milanetto, Stefano Landi, Maria Gazouli, Ludmila Vodickova, Pavel Soucek, Domenica Gioffreda, Federica Gemignani, Hermann Brenner, Oliver Strobel, Markus Büchler, Pavel Vodicka, Salvatore Paiella, Federico Canzian, Daniele Campa
  • Developmental defects
    Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1
    Noor Ul Ain, Marta Baroncelli, Alice Costantini, Tayyaba Ishaq, Fulya Taylan, Ola Nilsson, Outi Mäkitie, Sadaf Naz
  • Genotype-phenotype correlations
    Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes
    Martijn Baas, Elise Bette Burger, Ans MW van den Ouweland, Steven ER Hovius, Annelies de Klein, Christianne A van Nieuwenhoven, Robert Jan H Galjaard
  • Genotype-phenotype correlations
    SETD1B-associated neurodevelopmental disorder
    Alexandra Roston, Dan Evans, Harinder Gill, Margaret McKinnon, Bertrand Isidor, Benjamin Cogné, Jill Mwenifumbo, Clara van Karnebeek, Jianghong An, Steven J M Jones, Matthew Farrer, Michelle Demos, Mary Connolly, William T Gibson, CAUSES Study EPGEN Study
  • Complex traits
    Heritable genetic variants in key cancer genes link cancer risk with anthropometric traits
    Matteo Di Giovannantonio, Benjamin HL Harris, Ping Zhang, Isaac Kitchen-Smith, Lingyun Xiong, Natasha Sahgal, Giovanni Stracquadanio, Marsha Wallace, Sarah Blagden, Simon Lord, David Harris, Adrian H.L. Harris, Francesca M. Buffa, Gareth L. Bond
  • Vision science
    Retinal nerve fibre layer thickness associates with phenylketonuria control and cognition
    Jan Krzysztof Nowak, Łukasz Kałużny, Wojciech Suda, Anna Bukowska-Posadzy, Alex Adams, Ireneusz Grulkowski, Jarosław Kocięcki, Jarosław Walkowiak

June 24, 2020

  • Diagnostics
    Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study
    Salma Shickh, Mariana Gutierrez Salazar, Kathleen-Rose Zakoor, Conxi Lázaro, Jessica Gu, Jamie Goltz, Dakota Kleinman, Abdul Noor, Sam Khalouei, Chloe Mighton, Emma Reble, Rita Kodida, Yvonne Bombard, Stephanie DiTroia, Samantha Baxter, Nicholas Watkins, Melanie Care, Arnon Adler, Sheri Horsburgh, Oana Morar, Jillian Murphy, Dayna-Lynn Nevay, Marta Szybowska, Melyssa Aronson, Seema Panchal, Ruth Godoy, Spring Holter, Susan Randall Armel, Kara Semotiuk, Christine Elser, Raymond H Kim, David Chitayat, Joyce So, Hanna Faghfoury, Josh Silver, Chantal F Morel, Jordan Lerner-Ellis

June 23, 2020

June 22, 2020

June 19, 2020

June 16, 2020

  • Cancer genetics
    Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer
    Honglin Song, Ed M Dicks, Jonathan Tyrer, Maria Intermaggio, Georgia Chenevix-Trench, David D Bowtell, Nadia Traficante, AOCS Group, James Brenton, Teodora Goranova, Karen Hosking, Anna Piskorz, Elke van Oudenhove, Jen Doherty, Holly R Harris, Mary Anne Rossing, Matthias Duerst, Thilo Dork, Natalia V Bogdanova, Francesmary Modugno, Kirsten Moysich, Kunle Odunsi, Roberta Ness, Beth Y Karlan, Jenny Lester, Allan Jensen, Susanne Krüger Kjaer, Estrid Høgdall, Ian G Campbell, Conxi Lázaro, Miguel Angel Pujara, Julie Cunningham, Robert Vierkant, Stacey J Winham, Michelle Hildebrandt, Chad Huff, Donghui Li, Xifeng Wu, Yao Yu, Jennifer B Permuth, Douglas A Levine, Joellen M Schildkraut, Marjorie J Riggan, Andrew Berchuck, Penelope M Webb, OPAL Study Group, Cezary Cybulski, Jacek Gronwald, Anna Jakubowska, Jan Lubinski, Jennifer Alsop, Patricia Harrington, Isaac Chan, Usha Menon, Celeste L Pearce, Anna H Wu, Anna de Fazio, Catherine J Kennedy, Ellen Goode, Susan Ramus, Simon Gayther, Paul Pharoah
  • Developmental defects
    Autosomal dominant polycystic kidney disease in absence of renal cyst formation illustrates genetic interaction between WT1 and PKD1
    Johannes Münch, Karin M Kirschner, Hendrik Schlee, Cornelia Kraus, Ria Schönauer, Wenjun Jin, Diana Le Duc, Holger Scholz, Jan Halbritter

June 11, 2020

June 10, 2020

  • Therapeutics
    Treatment switch in Fabry disease- a matter of dose?
    Malte Lenders, Peter Nordbeck, Sima Canaan-Kühl, Lukas Kreul, Thomas Duning, Lora Lorenz, Christian Pogoda, Stefan-Martin Brand, Christoph Wanner, Eva Brand

June 09, 2020

  • Copy-number variation
    Rare and de novo duplications containing SHOX in clubfoot
    Brooke Sadler, Gabe Haller, Lilian Antunes, Momchil Nikolov, Ina Amarillo, Bradley Coe, Matthew B. Dobbs, Christina A. Gurnett
  • Genotype-phenotype correlations
    Genetic and functional insights into CDA-I prevalence and pathogenesis
    Aude-Anais Olijnik, Noémi B A Roy, Caroline Scott, Joseph A Marsh, Jill Brown, Karin Lauschke, Katrine Ask, Nigel Roberts, Damien J Downes, Sanja Brolih, Errin Johnson, Barbara Xella, Melanie Proven, Ria Hipkiss, Kate Ryan, Per Frisk, Johan Mäkk, Eva-Lena Maria Stattin, Nandini Sadasivam, Louisa McIlwaine, Quentin A Hill, Raffaele Renella, Jim R Hughes, Richard J Gibbons, Anja Groth, Peter J McHugh, Douglas R Higgs, Veronica J Buckle, Christian Babbs
  • Neurogenetics
    NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum
    Virginia Kimonis, Rehab al Dubaisi, Andrew E Maclean, Kathy Hall, Lan Weiss, Alexander E Stover, Philip H Schwartz, Bethany Berg, Cheng Cheng, Sumit Parikh, Blair R Conner, Sitao Wu, Anton N Hasso, Daryl A Scott, Mary Kay Koenig, Rachid Karam, Sha Tang, Moyra Smith, Elizabeth Chao, Janneke Balk, Eli Hatchwell, Peggy S Eis

June 05, 2020

June 02, 2020

June 01, 2020

May 28, 2020

May 23, 2020

May 21, 2020

May 19, 2020

May 14, 2020

  • Neurogenetics
    Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis
    Emily P McCann, Lyndal Henden, Jennifer A Fifita, Katharine Y Zhang, Natalie Grima, Denis C Bauer, Sandrine Chan Moi Fat, Natalie A Twine, Roger Pamphlett, Matthew C Kiernan, Dominic B Rowe, Kelly L Williams, Ian P Blair
  • Developmental defects
    De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
    Daphné Lehalle, Pierre Vabres, Arthur Sorlin, Tatjana Bierhals, Magali Avila, Virginie Carmignac, Martin Chevarin, Erin Torti, Yuichi Abe, Tobias Bartolomaeus, Jill Clayton-Smith, Benjamin Cogné, Ivon Cusco, Laurence Duplomb, Eveline De Bont, Yannis Duffourd, Floor Duijkers, Orly Elpeleg, Aviva Fattal, David Geneviève, Maria J Guillen Sacoto, Anne Guimier, David J Harris, Maja Hempel, Bertrand Isidor, Thibaud Jouan, Paul Kuentz, Eriko Koshimizu, Klaske Lichtenbelt, Valerie Loik Ramey, Miriam Maik, Sakoto Miyakate, Yoshiko Murakami, Laurent Pasquier, Helio Pedro, Laurie Simone, Krista Sondergaard-Schatz, Judith St-Onge, Julien Thevenon, Irene Valenzuela, Rami Abou Jamra, Koen van Gassen, Mieke M van Haelst, Silvana van Koningsbruggen, Edgard Verdura, Christa Whelan Habela, Pia Zacher, Jean-Baptiste Rivière, Christel Thauvin-Robinet, Joerg Betschinger, Laurence Faivre
  • Phenotypes
    Description of a multidisciplinary model of care in a French cohort of adult patients with tuberous sclerosis complex
    Pierre Pfirmann, Jerome Aupy, Eva Jambon, Laetitia Idier, Mathilde Prezelin-Reydit, Marine Fermis, Raphael Devillard, Nicolas Grenier, Christian Combe, Claire Rigothier

May 10, 2020

May 07, 2020

  • Diagnostics
    Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)
    Sen Zhao, Yuanqiang Zhang, Weisheng Chen, Weiyu Li, Shengru Wang, Lianlei Wang, Yanxue Zhao, Mao Lin, Yongyu Ye, Jiachen Lin, Yu Zheng, Jiaqi Liu, Hengqiang Zhao, Zihui Yan, Yongxin Yang, Yingzhao Huang, Guanfeng Lin, Zefu Chen, Zhen Zhang, Sen Liu, Lichao Jin, Zhaoyang Wang, Jingdan Chen, Yuchen Niu, Xiaoxin Li, Yong Wu, Yipeng Wang, Renqian Du, Na Gao, Hong Zhao, Ying Yang, Ying Liu, Ye Tian, Wenli Li, Yu Zhao, Jia Liu, Bin Yu, Na Zhang, Keyi Yu, Xu Yang, Shugang Li, Yuan Xu, Jianhua Hu, Zhe Liu, Jianxiong Shen, Shuyang Zhang, Jianzhong Su, Anas M Khanshour, Yared H Kidane, Brandon Ramo, Jonathan J Rios, Pengfei Liu, V. Reid Sutton, Jennifer E Posey, Zhihong Wu, Guixing Qiu, Carol A Wise, Feng Zhang, James R Lupski, Jianguo Zhang, Nan Wu Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study

May 06, 2020

Pages