Clinical Genetics

Cover image for Vol. 89 Issue 2

Accepted Articles (Accepted, unedited articles published online and citable. The final edited and typeset version of record will appear in future.)

Edited By: Reiner A. Veitia

Impact Factor: 3.931

ISI Journal Citation Reports © Ranking: 2014: 42/167 (Genetics & Heredity)

Online ISSN: 1399-0004

VIEW

  1. 1 - 34
  1. Short Reports

    1. Identification of a founder BRCA1 mutation in the Moroccan population

      Francisco Quiles, Àlex Teulé, Nora Martinussen Tandstad, Lidia Feliubadaló, Eva Tornero, Jesús del Valle, Mireia Menéndez, Mónica Salinas, Vibeke Wethe Rognlien, Angela Velasco, Angel Izquierdo, Gabriel Capellá, Joan Brunet and Conxi Lázaro

      Accepted manuscript online: 10 FEB 2016 11:26AM EST | DOI: 10.1111/cge.12747

  2. Original Articles

    1. Decision-making for non-invasive prenatal testing for Down syndrome: Hong Kong Chinese women's preferences for individual versus relational autonomy

      Janice Lau, Huso Yi, S Ahmed, Reiner Veitia and Aad Tibben

      Accepted manuscript online: 10 FEB 2016 11:25AM EST | DOI: 10.1111/cge.12743

    2. Fetal growth patterns in Beckwith-Wiedemann syndrome

      Alessandro Mussa, Silvia Russo, Agostina De Crescenzo, Andrea Freschi, Luciano Calzari, Silvia Maitz, Marina Macchiaiolo, Cristina Molinatto, Giuseppina Baldassarre, Milena Mariani, Luigi Tarani, Maria Francesca Bedeschi, Donatella Milani, Daniela Melis, Andrea Bartuli, Maria Vittoria Cubellis, Angelo Selicorni, Margherita Cirillo Silengo, Lidia Larizza, Andrea Riccio and Giovanni Battista Ferrero

      Accepted manuscript online: 9 FEB 2016 01:52AM EST | DOI: 10.1111/cge.12759

  3. Short Reports

    1. Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1

      Irene San Román, Marina Navarro, Francisco Martínez, Lourdes Albert, Luis Polo, Julia Guardiola, Esperanza García-Molina, Carmen Muñoz-Esparza, Jose Maria López-Ayala, María Sabater Molina and Juan R. Gimeno

      Accepted manuscript online: 9 FEB 2016 01:51AM EST | DOI: 10.1111/cge.12760

  4. Original Articles

    1. Structure - Function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes

      Kandasamy Balamurugan, Lise Bjørkhaug, Swapnil Mahajan, Sekar Kanthimathi, Pål Rasmus Njølstad, Narayanaswamy Srinivasan, Viswanathan Mohan and Venkatesan Radha

      Accepted manuscript online: 8 FEB 2016 03:00AM EST | DOI: 10.1111/cge.12757

  5. Short Reports

    1. When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription

      Lorenzo Ferri, Carlo Dionisi-Vici, Roberta Taurisano, Frédéric Maxime Vaz, Renzo Guerrini and Amelia Morrone

      Accepted manuscript online: 8 FEB 2016 02:53AM EST | DOI: 10.1111/cge.12756

  6. Reviews

    1. Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa

      Anna M. Rose and Shomi S. Bhattacharya

      Accepted manuscript online: 8 FEB 2016 02:47AM EST | DOI: 10.1111/cge.12758

  7. Short Reports

    1. NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency

      Bouali Nouha, Francou Bruno, Bouligand Jérôme, Lakhal Besma, Malek Iness, Kammoun Molka, Warszawski Josiane, Mougou Soumaya, Saad Ali and Guiochon-Mantel Anne

      Accepted manuscript online: 5 FEB 2016 12:32AM EST | DOI: 10.1111/cge.12750

  8. ORIGINAL ARTICLES

    1. Molecular genetic analysis in 14 czech kabuki syndrome patients is confirming the utility of phenotypic scoring

      J. Paděrová, A. Holubová, M. Simandlová, A. Puchmajerová, M. Vlčková, M. Malíková, R. Pourová, S. Vejvalková, M. Havlovicová, M. Šenkeříková, N. Ptáková, J. Drábová, J. Geryk, A. Maver, A. Křepelová and M. Macek Jr.

      Accepted manuscript online: 4 FEB 2016 01:04AM EST | DOI: 10.1111/cge.12754

  9. Reviews

    1. Developmental dysplasia of the hip: Usefulness of next generation genomic tools for characterizing the underlying genes; a mini review

      Sulman Basit, Mohammad A Hannan and Khalid I Khoshhal

      Accepted manuscript online: 4 FEB 2016 01:03AM EST | DOI: 10.1111/cge.12755

  10. Short Reports

    1. Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias

      Maja Stojiljkovic, Kristel Klaassen, Maja Djordjevic, Adrijan Sarajlija, Sandra Brasil, Bozica Kecman, Sanja Grkovic, Jelena Kostic, Pilar Rodriguez-Pombo, Lourdes R Desviat, Sonja Pavlovic and Belen Perez

      Accepted manuscript online: 2 FEB 2016 02:21AM EST | DOI: 10.1111/cge.12751

    2. A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome

      Makio Oka, Keiko Shimojima, Toshiyuki Yamamoto, Yoshiyuki Hanaoka, Shuhei Sato, Takao Yasuhara, Harumi Yoshinaga and Katsuhiro Kobayashi

      Accepted manuscript online: 2 FEB 2016 02:19AM EST | DOI: 10.1111/cge.12752

  11. Original Articles

    1. Clinical, biochemical and molecular characterization of prosaposin deficiency

      Marialetizia Motta, Massimo Tatti, Francesca Furlan, Andrea Celato, Giuseppina Di Fruscio, Giulia Polo, Renzo Manara, Vincenzo Nigro, Marco Tartaglia, Alberto Burlina and Rosa Salvioli

      Accepted manuscript online: 2 FEB 2016 02:19AM EST | DOI: 10.1111/cge.12753

    2. Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis

      Joonhong Park, Dae-Chul Jeong, Jaeeun Yoo, Woori Jang, Hyojin Chae, Jiyeon Kim, Ahlm Kwon, Hayoung Choi, Jae-Wook Lee, Nack-Gyun Chung, Myungshin Kim and Yonggoo Kim

      Accepted manuscript online: 1 FEB 2016 02:56AM EST | DOI: 10.1111/cge.12749

  12. Short Reports

    1. HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL

      Dana Šafka Brožková, Jana Haberlová, Radim Mazanec, Jana Laštůvková and Pavel Seeman

      Accepted manuscript online: 29 JAN 2016 04:12AM EST | DOI: 10.1111/cge.12745

  13. ORIGINAL ARTICLES

    1. Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness (CSNB)

      Marion Neuillé, Sivasankar Malaichamy, Maria Vadalà, Christelle Michiels, Christel Condroyer, Ramya Sachidanandam, Sundaramurthy Srilekha, Tharigopala Arokiasamy, Mélanie Letexier, Vanessa Démontant, José-Alain Sahel, Parveen Sen, Isabelle Audo, Nagasamy Soumittra and Christina Zeitz

      Accepted manuscript online: 29 JAN 2016 04:11AM EST | DOI: 10.1111/cge.12746

  14. Original Articles

    1. Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients

      Filip Lhota, Petra Zemankova, Petra Kleiblova, Jana Soukupova, Michal Vocka, Viktor Stranecky, Marketa Janatova, Hana Hartmannova, Katerina Hodanova, Stanislav Kmoch and Zdenek Kleibl

      Accepted manuscript online: 29 JAN 2016 04:11AM EST | DOI: 10.1111/cge.12748

    2. High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder

      Qiu-jing Zhang, Bing Han, Lan Lan, Liang Zong, Wei Shi, Hong-yang Wang, Lin-yi Xie, Hui Wang, Cui Zhao, Chao Zhang, Zi-fang Yin, Da-yong Wang, Christine Petit, Jing Guan and Qiu-ju Wang

      Accepted manuscript online: 27 JAN 2016 09:41PM EST | DOI: 10.1111/cge.12744

  15. Short Reports

    1. Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3

      Emanuele Barca, Olimpia Musumeci, Federica Montagnese, Silvia Marino, Francesca Granata, Domenica Nunnari, Lorenzo Peverelli, Salvatore DiMauro, Catarina M Quinzii and Antonio Toscano

      Accepted manuscript online: 27 JAN 2016 09:41PM EST | DOI: 10.1111/cge.12742

  16. Original Articles

    1. Relevance of Truncating Titin Mutations in Dilated Cardiomyopathy

      Oyediran Akinrinade, Tero-Pekka Alastalo and Juha W. Koskenvuo

      Accepted manuscript online: 18 JAN 2016 06:33AM EST | DOI: 10.1111/cge.12741

    2. Disrupted Nitric Oxide Signaling due to GUCY1A3 Mutations Increases Risk for Moyamoya Disease, Achalasia and Hypertension

      Stephanie Wallace, Dong-chuan Guo, Ellen Regalado, Lauren Mellor-Crummey, Michael Banshad, Deborah A. Nickerson, Robert Dauser, Neil Hanchard, Ronit Marom, Emil Martin, Vladimir Berka, Iraida Sharina, Vijeya Ganesan, Dawn Saunders, Shaine Morris and Dianna M. Milewicz

      Accepted manuscript online: 18 JAN 2016 06:30AM EST | DOI: 10.1111/cge.12739

    3. Diagnostic odyssey in severe neurodevelopmental disorders: Towards clinical whole-exome sequencing as a first-line diagnostic test

      Julien Thevenon, Yannis Duffourd, Alice Masurel-Paulet, Mathilde Lefebvre, François Feillet, Salima El Chehadeh-Djebbar, Judith St-Onge, Annick Steinmetz, Frédéric Huet, Mondher Chouchane, Véronique Darmency-Stamboul, Patrick Callier, Christel Thauvin-Robinet, Laurence Faivre and Jean Baptiste Rivière

      Accepted manuscript online: 12 JAN 2016 02:48AM EST | DOI: 10.1111/cge.12732

    4. Aneuploidy: the impact of chromosome imbalance on nuclear organization and overall genome expression

      Bérénice Hervé, Aurélie Coussement, Thomas Gilbert, Florent Dumont, Sébastien Jacques, Laurence Cuisset, Mathieu Chicard, Syrine Hizem, Pierre Bourdoncle, Franck Letourneur, Céline Dupont, François Vialard, Agnès Choiset and Jean-Michel Dupont

      Accepted manuscript online: 11 JAN 2016 04:47AM EST | DOI: 10.1111/cge.12731

    5. De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy resistant epilepsy in females: expanding the phenotypic spectrum

      Sandra Jansen, Tjitske Kleefstra, Marjolein H. Willemsen, Petra de Vries, Rolph Pfundt, Jayne Y. Hehir-Kwa, Christian Gilissen, Joris A. Veltman, Bert B. A. de Vries and Lisenka E.L.M. Vissers

      Accepted manuscript online: 11 JAN 2016 02:55AM EST | DOI: 10.1111/cge.12729

  17. Short Reports

    1. First-trimester spontaneous pregnancy loss – molecular analysis using Multiplex Ligation-dependent Probe Amplification (MLPA)

      Janusz Zimowski, Diana Massalska, Magdalena Pawelec, Julia Bijok, Anna Michałowska and Tomasz Roszkowski

      Accepted manuscript online: 8 JAN 2016 02:49AM EST | DOI: 10.1111/cge.12727

  18. Original Articles

    1. Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing

      Charlotte Mouden, Christèle Dubourg, Wilfrid Carré, Sophie Rose, Chloé Quelin, Linda Akloul, Géraldine Viot, Houria Salhi, Pierre Darnault, Sylvie Odent, Valérie Dupé and Véronique David

      Accepted manuscript online: 7 JAN 2016 09:39PM EST | DOI: 10.1111/cge.12722

  19. Short Reports

    1. Association analysis between HFM1 variation and primary ovarian insufficiency in Chinese women

      Danhua Pu, Chaojun Wang, Jinxiang Cao, Yiping Shen, Bai-lin Wu, Jiayin Liu and Jie Wu

      Accepted manuscript online: 18 DEC 2015 02:45AM EST | DOI: 10.1111/cge.12718

    2. You have full text access to this OnlineOpen article
      Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP

      Hye-Yeong Jo, Mi-Hyun Park, Hae-Mi Woo, Minhoon Han, Bo-Young Kim, Byung-Ok Choi, Ki Wha Chung and Soo Kyung Koo

      Accepted manuscript online: 13 DEC 2015 11:30PM EST | DOI: 10.1111/cge.12714

  20. Original Articles

    1. Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies

      Shelisa Tey, Azlina Ahmad-Annuar, Alexander P. Drew, Nortina Shahrizaila, Garth A. Nicholson and Marina L. Kennerson

      Accepted manuscript online: 10 DEC 2015 02:47AM EST | DOI: 10.1111/cge.12712

  21. Social and Behavioural Research

    1. Physicians’ Perspectives on the Uncertainties and Implications of Chromosomal Microarray Testing of Children and Families

      Marian Reiff, Kathryn Ross, Surabhi Mulchandani, Kathleen Joy Propert, Reed E. Pyeritz, Nancy B. Spinner and Barbara A. Bernhardt

      Accepted manuscript online: 24 AUG 2012 11:47AM EST | DOI: 10.1111/j.1399-0004.2012.12004.x

  22. Hotspots

    1. Caught in the AKT: identification of a de novo pathway in MCAP and MPPH and its therapeutic implications

      Hok Khim Fam

      Accepted manuscript online: 23 AUG 2012 11:51AM EST | DOI: 10.1111/j.1399-0004.2012.12003.x

  23. HotSpots

    1. DNA repair deficiency in a newly identified neurological disease

      Kun Huang

      Accepted manuscript online: 24 JUL 2010 12:00AM EST | DOI: 10.1111/j.1399-0004.2010.01519.x

  24. Short Report

    1. Safety and cardiovascular behavior during pulmonary function in patients with marfan syndrome

      Graziella França Bernardelli Cipriano, Paulo Alberto Tayar Peres, Gerson Cipriano Junior, Ross Arena and Antonio Carlos Carvalho

      Article first published online: 4 JAN 2010 | DOI: 10.1111/j.1399-0004.2009.01367.x

  25. Short Reports

    1. Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations

      D. Hofer, K. Paul, K. Fantur, M. Beck, A. Rouberge, A. Vellodi, B.J. Poorthuis, H. Michelakakis, B. Plecko and E. Paschke

      Article first published online: 24 FEB 2010 | DOI: 10.1111/j.1399-0004.2010.01378.x

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  1. 1 - 34

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