Clinical Genetics

Cover image for Vol. 92 Issue 4

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: 3.326

ISI Journal Citation Reports © Ranking: 2016: 62/166 (Genetics & Heredity)

Online ISSN: 1399-0004

VIEW

  1. 1 - 55
  1. ORIGINAL ARTICLES

    1. Common variants in DLG1 locus are associated with non-syndromic cleft lip with or without cleft palate

      Adrianna Mostowska, Agnieszka Gaczkowska, Kacper Żukowski, Kerstin U. Ludwig, Kamil K. Hozyasz, Piotr Wójcicki, Elizabeth Mangold, Anne C. Böhmer, Stefanie Heilmann-Heimbach, Michael Knapp, Małgorzata Zadurska, Barbara Biedziak, Margareta Budner, Agnieszka Lasota, Agata Daktera-Micker and Paweł P. Jagodziński

      Accepted manuscript online: 19 SEP 2017 10:30AM EST | DOI: 10.1111/cge.13141

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    2. TSGA10 is a novel candidate gene associated with acephalic spermatozoa

      Yan-Wei Sha, Yan-Kun Sha, Zhi-Yong Ji, Li-Bin Mei, Lu Ding, Qing Zhang, Ping-ping Qiu, Shao-Bin Lin, Xu Wang, Ping Li, Xiaohui Xu and Lin Li

      Accepted manuscript online: 14 SEP 2017 02:37AM EST | DOI: 10.1111/cge.13140

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  2. REVIEWS

    1. Management of Leigh Syndrome: current status and new insights

      Ling Chen, Yu Cui, Dan Jiang, Chui Yan Ma, Hung-fat Tse, Wuh-Liang Hwu and Qizhou Lian

      Accepted manuscript online: 14 SEP 2017 01:52AM EST | DOI: 10.1111/cge.13139

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  3. SHORT REPORTS

    1. Expanding the clinical and molecular spectrum of PRMT7 mutations: three additional patients and review

      Emanuele Agolini, Maria Lisa Dentici, Emanuele Bellacchio, Viola Alesi, Francesca Clementina Radio, Annalaura Torella, Francesco Musacchia, Marco Tartaglia, Bruno Dallapiccola, Vincenzo Nigro, Maria Cristina Digilio and Antonio Novelli

      Accepted manuscript online: 13 SEP 2017 07:55AM EST | DOI: 10.1111/cge.13137

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      We describe 3 patients from 2 unrelated families with SBIDDS syndrome, displaying two novel homozygous mutations in the PRMT7 gene. The patients reported in this study extend the clinical and mutational spectrum of the PRMT7-related disorder, showing a possible genotype/phenotype correlation that can have an impact on clinical management of patients. A clinical review of currently reported SBIDDS patients is provided.

  4. REVIEWS

    1. Genetic and Epigenetic Insights into Uveal Melanoma

      Amit Sharma, Marta M. Stei, Holger Fröhlich, Frank G. Holz, Karin U. Loeffler and Martina C. Herwig-Carl

      Accepted manuscript online: 13 SEP 2017 07:40AM EST | DOI: 10.1111/cge.13136

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      Genetic, epigenetic and predisposing factors contribute to the pathogenesis of uveal melanoma

  5. ORIGINAL ARTICLES

    1. mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review

      G. Gordo, J. Tenorio, P. Arias, F. Santos-Simarro, S. García-Miñaur, J.C. Moreno, J. Nevado, E. Vallespin, L. Rodriguez-Laguna, R. de Mena, I. Dapia, M. Palomares, Á. del Pozo, K. Ibañez, J.C. Silla, E. Barroso, V.L. Ruiz Pérez, V. Martinez-Glez and P. Lapunzina

      Accepted manuscript online: 11 SEP 2017 10:07AM EST | DOI: 10.1111/cge.13135

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  6. SHORT REPORTS

    1. Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation

      M. Di Rocco, M. Rusmini, F. Caroli, A. Madeo, M. Bertamino, G. Marre-Brunenghi and I. Ceccherini

      Accepted manuscript online: 11 SEP 2017 10:03AM EST | DOI: 10.1111/cge.13134

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      UFSP2 gene, reported in one family as cause of isolated hip dysplasia is responsible of a novel spondyloepimetaphyseal dysplasia

  7. ORIGINAL ARTICLES

    1. Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance

      Z. Powis, K.D. Farwell Hagman, C. Mroske, K. McWalter, J.S. Cohen, R. Colombo, A. Serretti, A. Fatemi, K.L. David, J. Reynolds, L.D. Immken, H. Nagakura, C. Cunniff, K. Payne, T. Barbaro-Dieber, K.W. Gripp, L. Baker, T. Stamper, K.A. Aleck, E.S. Jordan, J. Hersh, J. Burton, I.M. Wentzensen, M.J. Guillen Sacoto, R. Willaert, M.T. Cho, I. Petrik, R. Huether and S. Tang

      Accepted manuscript online: 7 SEP 2017 09:30AM EST | DOI: 10.1111/cge.13132

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      Case series and review of literature of patients with pathogenic SETD5 alterations. Phenotype is variable but encompasses developmental delay, behavioral/psychiatric issues, and variable hand and skeletal abnormalities and highly variable dysmorphic features

    2. Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease

      B. Schormair, D. Kemlink, B. Mollenhauer, O. Fiala, G. Machetanz, J. Roth, R. Berutti, T.M. Strom, B. Haslinger, C. Trenkwalder, D. Zahorakova, P. Martasek, E. Ruzicka and J. Winkelmann

      Accepted manuscript online: 1 SEP 2017 09:42AM EST | DOI: 10.1111/cge.13124

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      Development and validation of a severity scoring system for Zellweger spectrum disorders

      Femke C.C. Klouwer, Anke Meester-Delver, Frédéric M Vaz, Hans R. Waterham, Raoul C.M. Hennekam and Bwee Tien Poll-The

      Accepted manuscript online: 30 AUG 2017 09:25AM EST | DOI: 10.1111/cge.13130

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    4. Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome

      Marcello Niceta, Katia Margiotti, Maria Cristina Digilio, Valentina Guida, Alessandro Bruselles, Simone Pizzi, Alessandro Ferraris, Luigi Memo, Nicola Laforgia, Maria Lisa Dentici, Federica Consoli, Isabella Torrente, Victor L Ruiz-Perez, Bruno Dallapiccola, Bruno Marino, Alessandro De Luca and Marco Tartaglia

      Accepted manuscript online: 30 AUG 2017 09:00AM EST | DOI: 10.1111/cge.13128

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  8. REVIEWS

    1. Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: lumping or splitting?

      Fortunato Lonardo, Maria Serena Lonardo, Fabio Acquaviva, Matteo Della Monica, Francesca Scarano and Gioacchino Scarano

      Accepted manuscript online: 30 AUG 2017 08:40AM EST | DOI: 10.1111/cge.13127

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      SBBYSS and GTPTS are two rare but clinically well-described diseases. Some Authors propose to unify them under a single denomination (KAT6B-related disorders) because they have many clinical features in common and are caused by sequence variants in the same gene. We believe that from a clinical point of view the facial phenotype of the patients with SBBYSS is striking enough to consider it appropriate to still maintain a distinction.

  9. SHORT REPORTS

    1. Recessive Mutations in NDUFA2 Cause Mitochondrial Leukoencephalopathy

      S. Perrier, L. Gauquelin, M. Tétreault, L. Tran, N. Webb, M. Srour, J.J. Mitchell, C. Brunel-Guitton, J. Majewski, V. Long, S. Keller, M.J. Gambello, C. Simons, Care4Rare Canada Consortium, A. Vanderver and G. Bernard

      Accepted manuscript online: 30 AUG 2017 08:05AM EST | DOI: 10.1111/cge.13126

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    2. Bone marrow failure syndrome caused by homozygous frameshift mutation in the ERCC6L2 gene

      Tekla Järviaho, Kimmo Halt, Pasi Hirvikoski, Jukka Moilanen, Merja Möttönen and Riitta Niinimäki

      Accepted manuscript online: 16 AUG 2017 07:15AM EST | DOI: 10.1111/cge.13125

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      Presentation of wild type and predicted mutated forms of ERCC6L2 protein in patients with inherited bone marrow failure syndrome. A) A full length ERCC6L2 protein consists of 1561 amino acids. The DEXDc domain binds ATP and Helicase domain catalyzes the DNA remodeling. B) The c. 1457del(p.(Ile486fs)) mutation, described in this study, results in premature stop codon, leading to truncation of the protein and total lack of helicase domain. C) and D) schematically describe the two truncating mutations described previously. C) by Tummala et al. Am J Hum Genet. 2014;94(2):246-256 and D) by Tummala et al. and Zhang et al., J Exp Med. 2016;213(6):1011-1028.

  10. ORIGINAL ARTICLES

    1. You have full text access to this OnlineOpen article
      Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication

      Liisa M. Pelttari, Hermela Shimelis, Heidi Toiminen, Anders Kvist, Therese Törngren, Åke Borg, Carl Blomqvist, Ralf Bützow, Fergus Couch, Kristiina Aittomäki and Heli Nevanlinna

      Accepted manuscript online: 12 AUG 2017 09:25AM EST | DOI: 10.1111/cge.13123

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  11. SHORT REPORTS

    1. Homozygous Nonsense Mutation in SCHIP1/IQCJ-SCHIP1 Causes a Neurodevelopmental Brain Malformation Syndrome

      Mahmoud Elsaid, Nader Chalhoub, Tawfeg Ben-Omran, Hussein Kamel, Mariam Al Mureikhi, Khalid Ibrahim, M. Elizabeth Ross and Alice Abdel Aleem

      Accepted manuscript online: 8 AUG 2017 10:05AM EST | DOI: 10.1111/cge.13122

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      Three siblings of a consanguineous parent with developmental delay, hearing loss, cataract, axonal guidance defects & Polymicrogyria.

      Genomic organization of the SCHIP1/IQCJ-SCHIP1 isoforms with the nonsense mutation located at the C-terminal region common to all isoforms

      Significant wide homozygosity blocks on chromosome 3 encompassing SCHIP1/ IQCJ-SCHIP1 locus supports the data analysis of whole genome sequencing

      Sanger sequence validated the recessive segregation of this nonsense mutation in SCHIP1/IQCJ-SCHIP1.

  12. ORIGINAL ARTICLES

    1. Bone health and SATB2-associated syndrome

      Yuri A. Zarate, Michelle Steinraths, Allison Matthews, Wendy Smith, Angela Sun, Louise C. Wilson, Caroline Brain, Jeremy Allgove, Benjamin Jacobs, Jennifer L. Fish, Cynthia M. Powell, Wyeth Wasserman, Clara Van Karnebeek, Emma L. Wakeling and Nina S. Ma

      Accepted manuscript online: 8 AUG 2017 09:40AM EST | DOI: 10.1111/cge.13121

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  13. SHORT REPORTS

    1. Diagnosis of monogenic liver diseases in childhood by Next-Generation Sequencing

      Amelie Stalke, Britta Skawran, Bernd Auber, Thomas Illig, Brigitte Schlegelberger, Norman Junge, Imeke Goldschmidt, Christoph Leiskau, Nils von Neuhoff, Ulrich Baumann and Eva-Doreen Pfister

      Accepted manuscript online: 4 AUG 2017 03:25AM EST | DOI: 10.1111/cge.13120

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  14. INVITED REVIEWS

    1. Mechanisms of Mendelian dominance

      Reiner A. Veitia, Sandrine Caburet and James A. Birchler

      Accepted manuscript online: 28 JUL 2017 11:55PM EST | DOI: 10.1111/cge.13107

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  15. SHORT REPORTS

    1. Association of combined GIF290T>C heterozygous mutation/FUT2 secretor variant with neural tube defects

      R.M. Guéant-Rodriguez, C. Chery, B.-M. Fofou-Caillierez, J. Voirin, B. Foliguet, T. Josse, D. Tramoy, F. François and J.-L. Guéant

      Accepted manuscript online: 25 JUL 2017 10:45AM EST | DOI: 10.1111/cge.13104

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    2. Unilateral Vestibular Schwannoma and Meningiomas in a Patient with PIK3CA-Related Segmental Overgrowth: Co-occurrence of Mosaicism for Two Rare Disorders

      John R. Mills, Ann M. Moyer, Benjamin R. Kipp, Andrzej B. Poplawski, Ludwine M. Messiaen and Dusica Babovic-Vuksanovic

      Accepted manuscript online: 24 JUL 2017 06:40AM EST | DOI: 10.1111/cge.13099

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      Molecular analysis of the VS suggests that the patient has two different mosaic disorders, PROS and NF2.

  16. ORIGINAL ARTICLES

    1. Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of two clinical units and 216 patients

      E. Chérot, B. Keren, C. Dubourg, W. Carré, M. Fradin, A. Lavillaureix, A. Afenjar, L. Burglen, S. Whalen, P. Charles, I. Marey, S. Heide, A. Jacquette, D. Heron, D. Doummar, D. Rodriguez, Thierry Billette de Villemeur, M.-L. Moutard, A. Guët, J. Xavier, D. Périsse, D. Cohen, F. Demurger, C. Quélin, C. Depienne, S. Odent, C. Nava, V. David, L. Pasquier and C. Mignot

      Accepted manuscript online: 14 JUL 2017 09:20AM EST | DOI: 10.1111/cge.13102

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      TruSight One global diagnostic yield in 216 consecutive patients with neurodevelopmental disorder, negative for X fragile and chromosomal microarray from two French clinical genetic centers: 25.9%

    2. Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: outcomes from a cohort of 50 families

      Taila Hartley, Justin D. Wagner, Jodi Warman-Chardon, Martine Tétreault, Lauren Brady, Steven Baker, Mark Tarnopolsky, Pierre R. Bourque, Jillian S. Parboosingh, Christopher Smith, Brenda McInnes, A. Micheil Innes, Francois Bernier, Cynthia J. Curry, Grace Yoon, Gabriella A. Horvath, Eric Bareke, FORGE Canada Consortium, Care4Rare Canada Consortium, Jacek Majewski, Dennis E. Bulman, David A. Dyment and Kym M. Boycott

      Accepted manuscript online: 14 JUL 2017 08:45AM EST | DOI: 10.1111/cge.13101

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    3. Novel non-neutral mitochondrial DNA mutations found in childhood acute lymphoblastic leukemia

      Tekla Järviaho, Anri Hurme-Niiranen, Heidi K. Soini, Riitta Niinimäki, Merja Möttönen, Eeva-Riitta Savolainen, Reetta Hinttala, Arja Harila-Saari and Johanna Uusimaa

      Accepted manuscript online: 14 JUL 2017 08:05AM EST | DOI: 10.1111/cge.13100

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      Clinical Experience with a Single-Nucleotide Polymorphism-Based Noninvasive Prenatal Test for Five Clinically Significant Microdeletions

      Kimberly Martin, Sushma Iyengar, Akshita Kalyan, Christine Lan, Alexander L. Simon, Melissa Stosic, Katie Kobara, Harini Ravi, Tina Truong, Allison Ryan, Zachary P. Demko and Peter Benn

      Accepted manuscript online: 11 JUL 2017 09:45AM EST | DOI: 10.1111/cge.13098

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    5. Phenotypic spectrum associated with de novo mutations in QRICH1 gene

      Athina Ververi, Miranda Splitt, John Dean, DDD study and Angela Brady

      Accepted manuscript online: 10 JUL 2017 08:45AM EST | DOI: 10.1111/cge.13096

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    6. Genotype-phenotype study in patients with VCP valosin-containing protein mutations associated with multisystem proteinopathy

      Ebaa Al-Obeidi, Sejad Al-Tahan, Abhilasha Surampalli, Namita Goyal, Annabel Wang, Andreas Hermann, Molly Omizo, Charles Smith, Tahseen Mozaffar and Virginia Kimonis

      Accepted manuscript online: 10 JUL 2017 08:25AM EST | DOI: 10.1111/cge.13095

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      Mutations in valosin-containing protein (VCP) cause inclusion body myopathy, Paget disease of bone, frontotemporal dementia, amyotropic lateral sclerosis and Parkinson's disease. We studied the largest group of individuals (total 231: 118 males, 113 females) from 36 families carrying 15 different VCP mutations to establish genotype-phenotype correlation . Large intra-familial and interfamilial variations made establishing correlations difficult to establish except for later age of onset with R159C mutations.

  17. REVIEWS

    1. Mining for mitochondrial mechanisms: linking known syndromes to mitochondrial function

      Daan M. Panneman, Jan A. Smeitink and Richard J. Rodenburg

      Accepted manuscript online: 7 JUL 2017 09:21AM EST | DOI: 10.1111/cge.13094

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  18. SHORT REPORTS

    1. Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and three novel SLC37A4 variants

      Anita Skakic, Maja Djordjevic, Adrijan Sarajlija, Kristel Klaassen, Natasa Tosic, Bozica Kecman, Milena Ugrin, Vesna Spasovski, Sonja Pavlovic and Maja Stojiljkovic

      Accepted manuscript online: 7 JUL 2017 06:25AM EST | DOI: 10.1111/cge.13093

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  19. ORIGINAL ARTICLES

    1. Integrated Analysis of SNP, CNV and Gene Expression Data in Genetic Association Studies

      Rana Momtaz, Nagia M. Ghanem, Nagwa M. El-Makky and Mohamed A. Ismail

      Accepted manuscript online: 7 JUL 2017 05:54AM EST | DOI: 10.1111/cge.13092

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  20. SHORT REPORTS

    1. Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia

      Muhammad Tariq, Tahir Naeem Khan, Lars Lundin, Muhammad Jameel, Torsten Lönnerholm, Shahid Mahmood Baig, Niklas Dahl and Joakim Klar

      Accepted manuscript online: 7 JUL 2017 05:10AM EST | DOI: 10.1111/cge.13091

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  21. ORIGINAL ARTICLES

    1. Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy

      Ming Liu, Jie Zhang, Zhongbin Zhang, Ling Zhou, Yuwu Jiang, Jingmin Wang, Jiangxi Xiao and Ye Wu

      Accepted manuscript online: 3 JUL 2017 08:01AM EST | DOI: 10.1111/cge.13090

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      Compound heterozygous mutation in IBA57 of 11 Chinese children were identified, presenting with infantile onset of motor regression . MRI lesions were commonly located in the periventricular/central white matter, and corpus callosum. Cavitating lesions and patchy high DWI signals were characteristic features of MRI. Eight novel mutations in IBA57 were identified and the mutation at c.286T>C (p.Tyr96His) was confirmed as founder mutation.

    2. NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect

      Fabian Baertling, Laura Sánchez-Caballero, Mariël AM van den Brand, Cheuk-Wing Fung, Sophelia Hoi-Shan Chan, Virginia Chun-Nei Wong, Debby M.E. Hellebrekers, Irenaeus F.M. de Coo, Jan AM Smeitink, Richard JT Rodenburg and Leo GJ Nijtmans

      Accepted manuscript online: 3 JUL 2017 07:10AM EST | DOI: 10.1111/cge.13089

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  22. REVIEWS

    1. Protein misfolding diseases: prospects of pharmacological treatment

      Alejandra Gámez, Patricia Yuste-Checa, Sandra Brasil, Álvaro Briso-Montiano, Lourdes R. Desviat, Magdalena Ugarte, Celia Pérez-Cerdá and Belén Pérez

      Accepted manuscript online: 3 JUL 2017 06:56AM EST | DOI: 10.1111/cge.13088

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  23. SHORT REPORTS

    1. Next generation phenotyping in Emanuel and Pallister Killian Syndrome using computer-aided facial dysmorphology analysis of 2D photos

      Thomas Liehr, Nic Acquarola, Kate Pyle, Stephanie St-Pierre, Murney Rinholm, Omri Bar, Kathleen Wilhelm and Isolde Schreyer

      Accepted manuscript online: 29 JUN 2017 10:55AM EST | DOI: 10.1111/cge.13087

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    2. A 37-years-old Menkes disease patient - Residual ATP7A activity and early copper administration as key factors in beneficial treatment

      Zeynep Tümer, Michael Petris, Sha Zhu, Julian Mercer, Jens Bukrinski, Stefan Bilz, Kurt Baerlocher, Nina Horn and Lisbeth B Møller

      Accepted manuscript online: 28 JUN 2017 05:56AM EST | DOI: 10.1111/cge.13083

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      Menkes disease is a lethal disorder of copper metabolism, characterized by severe neurological symptoms and connective tissue abnormalities. The eldest surviving Menkes disease patient (TLH) with p.(Pro852Leu) ATP7A variant has been receiving early-onset and long term copper treatment with highly beneficial outcome.

    3. A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss

      Teija Paakkola, Katri Vuopala, Hannaleena Kokkonen, Jaakko Ignatius, Marita Valkama, Jukka S. Moilanen, Somayyeh Fahiminiya, Jacek Majewski, Reetta Hinttala and Johanna Uusimaa

      Accepted manuscript online: 28 JUN 2017 05:45AM EST | DOI: 10.1111/cge.13086

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    4. A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency

      Irene Paganini, Roberta Sestini, Gabriele Lorenzo Capone, Anna Laura Putignano, Elisa Contini, Irene Giotti, Francesca Gensini, Annabella Marozza, Alessandro Barilaro, Berardino Porfirio and Laura Papi

      Accepted manuscript online: 28 JUN 2017 05:42AM EST | DOI: 10.1111/cge.13085

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  24. ORIGINAL ARTICLES

    1. Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I

      M. C. Braunisch, H. Gallwitz, A. Abicht, I. Diebold, E. Holinski-Feder, L. Van Maldergem, M. Lammens, R. Kovács-Nagy, B. Alhaddad, T. M. Strom, T. Meitinger, J. Senderek, S. Rudnik-Schöneborn and T. B. Haack

      Accepted manuscript online: 27 JUN 2017 04:07AM EST | DOI: 10.1111/cge.13084

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  25. SHORT REPORTS

    1. Functional Analysis of p.Ala253_Leu254insAsn Mutation in PLS3 Responsible for X-linked Osteoporosis

      Lianqing Wang, Qiaoli Zhai, Peiqing Zhao, Xinxin Xiang, Xiaowei Zhang, Wenxiu Tian and Tao Li

      Accepted manuscript online: 24 JUN 2017 02:07AM EST | DOI: 10.1111/cge.13081

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  26. ORIGINAL ARTICLES

    1. Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon

      Isabelle Tostivint, Nicolas Royer, Mireille Nicolas, Agnes Bourillon, Isabelle Czerkiewicz, Pierre-Hadrien Becker, Françoise Muller and Jean-François Benoist

      Accepted manuscript online: 24 JUN 2017 01:52AM EST | DOI: 10.1111/cge.13079

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    2. A genetic epidemiology study of Congenital Adrenal Hyperplasia in Italy

      Alessandro Gialluisi, Soara Menabò, Lilia Baldazzi, Letizia Casula, Antonella Meloni, Maria Carla Farci, Stefano Mariotti, Luisa Balestrino, Rita Ortolano, Stefania Murru, Carlo Carcassi, Sandro Loche, Antonio Balsamo and Giovanni Romeo

      Accepted manuscript online: 23 JUN 2017 09:30AM EST | DOI: 10.1111/cge.13078

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    3. You have full text access to this OnlineOpen article
      Increasing awareness and knowledge of lifestyle recommendations for cancer prevention in Lynch Syndrome carriers: randomized controlled trial

      Alina Vrieling, Annemiek Visser, Meeke Hoedjes, Mirthe Hurks, Encarna Gómez García, Nicoline Hoogerbrugge and Ellen Kampman

      Accepted manuscript online: 20 JUN 2017 01:16PM EST | DOI: 10.1111/cge.13076

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      Health promotion materials increase awareness and knowledge of lifestyle recommendations for cancer prevention among Lynch Syndrome carriers: a randomized controlled trial

    4. Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis

      Louiza Papazachariou, Gregory Papagregoriou, Despina Hadjipanagi, Panagiota Demosthenous, Konstantinos Voskarides, Constantina Koutsofti, Kostas Stylianou, Petros Ioannou, Dimitris Xydakis, Ioannis Tzanakis, Antonia Papadaki, Nicolaos Kallivretakis, Nicolaos Nikolakakis, Garyfalia Perysinaki, Daniel P. Gale, Athanasios Diamantopoulos, Pavlos Goudas, Dimitris Goumenos, Andreas Soloukides, Ioannis Boletis, Christina Melexopoulou, Eleni Georgaki, Elena Frysira, Fifi Komianou, Dimitrios Grekas, Christos Paliouras, Polichronis Alivanis, George Vergoulas, Alkis Pierides, Eugenios Daphnis and Constantinos Deltas

      Accepted manuscript online: 20 JUN 2017 11:14AM EST | DOI: 10.1111/cge.13077

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  27. SHORT REPORTS

    1. Further delineation of the phenotype caused by biallelic variants in the WDR4 gene

      Aurélien Trimouille, Eulalie Lasseaux, Pascal Barat, Caroline Deiller, Séverine Drunat, Caroline Rooryck, Benoît Arveiler and Didier Lacombe

      Accepted manuscript online: 15 JUN 2017 03:50AM EST | DOI: 10.1111/cge.13074

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      Further delineation of theWDR4 associated phenotype.

  28. REVIEWS

    1. Fragile X syndrome: an overview and update of the FMR1 gene

      Montserrat Mila, Maria Isabel Alvarez-Mora, Irene madrigal and Laia Rodriguez-Revenga

      Accepted manuscript online: 15 JUN 2017 03:35AM EST | DOI: 10.1111/cge.13075

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  29. ORIGINAL ARTICLES

    1. Genetic Study of Early-onset Graves’ Disease in the Chinese Han Population

      Fei-Fei Yuan, Xiao-Ping Ye, Wei Liu, Li-Qiong Xue, Yu-Ru Ma, Le-Le Zhang, Man-Man Zhang, Feng Sun, Yue-Yue Wan, Qian-Yue Zhang, Shuang-Xia Zhao, Huai-Dong Song and The China Consortium for the Genetics of Autoimmune Thyroid Disease

      Accepted manuscript online: 9 JUN 2017 06:21AM EST | DOI: 10.1111/cge.13072

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    2. Large-scale Study of Clinical and Biochemical Characteristics of Chinese Patients Diagnosed with Krabbe Disease

      Shichao Zhao, Xia Zhan, Yu Wang, Jun Ye, Lianshu Han, Wenjuan Qiu, Xiaolan Gao, Xuefan Gu and Huiwen Zhang

      Accepted manuscript online: 9 JUN 2017 06:09AM EST | DOI: 10.1111/cge.13071

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    3. Genetic epidemiology of Familial Mediterranean Fever through integrative analysis of whole genome and exome sequences from Middle East and North Africa

      Remya Koshy, Ambily Sivadas and Vinod Scaria

      Accepted manuscript online: 9 JUN 2017 06:09AM EST | DOI: 10.1111/cge.13070

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    4. Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelination

      Ryo Sato, Natsuko Arai-Ichinoi, Atsuo Kikuchi, Tetsuro Matsuhashi, Yurika Numata-Uematsu, Mitsugu Uematsu, Yuji Fujii, Kei Murayama, Akira Ohtake, Takaaki Abe and Shigeo Kure

      Accepted manuscript online: 8 JUN 2017 04:15AM EST | DOI: 10.1111/cge.13068

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      Analyses of skin fibroblasts from the patient

  30. SHORT REPORTS

    1. Identification of novel BCL11A variants in patients with epileptic encephalopathy: expanding the phenotypic spectrum

      Michiko Yoshida, Mitsuko Nakashima, Tohru Okanishi, Sotaro Kanai, Ayataka Fujimoto, Kazuya Itomi, Masafumi Morimoto, Hirotomo Saitsu, Mitsuhiro Kato, Naomichi Matsumoto and Tomohiro Chiyonobu

      Accepted manuscript online: 6 JUN 2017 10:40PM EST | DOI: 10.1111/cge.13067

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  31. ORIGINAL ARTICLES

    1. You have full text access to this OnlineOpen article
      Performance of BRCA1/2 mutation prediction models in male breast cancer patients

      Setareh Moghadasi, Vincent Grundeken, Linda A.M. Janssen, Nizet H. Dijkstra, Mar Rodríguez-Girondo, Wendy A.G. van Zelst-Stams, Jan C. Oosterwijk, Margreet G.E.M. Ausems, Rogier A. Oldenburg, Muriel A. Adank, Eveline W. Blom, Mariëlle Ruijs, Theo A.M. van Os, Carolien H.M. van Deurzen, John W.M. Martens, Carolien P. Schroder, Juul T. Wijnen, Maaike P.G. Vreeswijk and Christi J. van Asperen

      Accepted manuscript online: 6 JUN 2017 10:40PM EST | DOI: 10.1111/cge.13065

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    2. Mutation Screening of 10 Cancer Susceptibility Genes in Unselected Breast Cancer Patients

      Yueliang Xie, Li Guoli, Ming Chen, Xinwu Guo, Lili Tang, Xipeng Luo, Shouman Wang, Wenjun Yi, Lizhong Dai and Jun Wang

      Accepted manuscript online: 5 JUN 2017 03:55AM EST | DOI: 10.1111/cge.13063

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      The frequency of VUSs excluding predicted deleterious VUSs

  32. REVIEWS

    1. On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation

      Cristina Tello, Alejandra Darling, Vincenzo Lupo, Belén Pérez-Dueñas and Carmen Espinós

      Accepted manuscript online: 23 MAY 2017 09:20PM EST | DOI: 10.1111/cge.13057

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  33. ORIGINAL ARTICLES

    1. Metformin as Targeted Treatment in Fragile X Syndrome

      Angel Belle C. Dy, Flora Tassone, Marwa Eldeeb, María J Salcedo-Arellano, Nicole Tartaglia and Randi Hagerman

      Accepted manuscript online: 24 APR 2017 05:45AM EST | DOI: 10.1111/cge.13039

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