Online First

April 05, 2021

  • Neurogenetics
    Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly
    Ichrak Drissi, Emily Fletcher, Ranad Shaheen, Michael Nahorski, Amal M Alhashem, Steve Lisgo, Alberto Fernández-Jaén, Katherine Schon, Kalthoum Tlili-Graiess, Sarah F Smithson, Susan Lindsay, Hayley J Sharpe, Fowzan S Alkuraya, Geoff Woods
  • 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
  • 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

April 02, 2021

March 29, 2021

March 25, 2021

March 23, 2021

March 22, 2021

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

March 08, 2021

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
  • 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
  • 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

February 23, 2021

February 19, 2021

February 12, 2021

February 10, 2021

February 09, 2021

February 05, 2021

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

January 28, 2021

January 25, 2021

January 18, 2021

January 15, 2021

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

January 04, 2021

December 21, 2020

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
  • 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

December 14, 2020

December 03, 2020

November 30, 2020

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