Clinical Genetics

Cover image for Vol. 92 Issue 6

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: 63/167 (Genetics & Heredity)

Online ISSN: 1399-0004

  1. SHORT REPORTS

    1. A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case

      C. Méjécase, S. Mohand-Saïd, S. El Shamieh, A. Antonio, C. Condroyer, S. Blanchard, M. Letexier, J.-P. Saraiva, J.-A. Sahel, I. Audo and C. Zeitz

      Accepted manuscript online: 9 NOV 2017 05:47AM EST | DOI: 10.1111/cge.13171

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      This second report of REEP6 varients associated with rod-cone dystrophy provides further evidence that REEP6 must be investigated in rod-cone dystrophy cases.

  2. ORIGINAL ARTICLES

    1. Variants in CIB2 cause DFNB48 and not USH1J

      K.T. Booth, K. Kahrizi, M. Babanejad, H. Daghagh, G. Bademci, S. Arzhangi, D. Zareabdollahi, D. Duman, A. El-Amraoui, M. Tekin, H. Najmabadi, H. Azaiez and R.J. Smith

      Accepted manuscript online: 7 NOV 2017 11:15AM EST | DOI: 10.1111/cge.13170

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    2. Richieri-Costa-Pereira syndrome: expanding its phenotypic and genotypic spectrum

      D.R. Bertola, G. Hsia, L. Alvizi, A. Gardham, E. Wakeling, G.L. Yamamoto, R.S. Honjo, L.A.N. Oliveira, R.C. Di Francesco, B.A. Perez, C.A. Kim and M.R. Passos-Bueno

      Accepted manuscript online: 7 NOV 2017 10:55AM EST | DOI: 10.1111/cge.13169

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    3. Epidemiology of Huntington Disease in Cyprus: A 20-Year Retrospective Study

      C.A. Demetriou, A. Heraclides, C. Salafori, G.A. Tanteles, K. Christodoulou, Y. Christou and E. Zamba-Papanicolaou

      Accepted manuscript online: 6 NOV 2017 05:57AM EST | DOI: 10.1111/cge.13168

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  3. REVIEWS

    1. Conversations with French Medical Geneticists. A Personal Perspective on the Origins and Early Years of Medical Genetics in France

      P.S. Harper

      Accepted manuscript online: 3 NOV 2017 08:06AM EST | DOI: 10.1111/cge.13167

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      'The early history of medical genetics in France is discussed in the context of recorded interviews with 16 early workers in the field, based principally but not exclusively in Paris. These origins and early years show considerable differences between France and other countries that are of international interest and deserve a more comprehensive study than the personal perspective given here can provide. Further recorded interviews with key workers across France still living will be of particular importance.

  4. SHORT REPORTS

    1. Homozygous Mutation in ELMO2 may cause Ramon syndrome

      C. Mehawej, A. Hoischen, R.A. Farah, I. Marey, M. David, S. Stora, K. Lachlan, H.G. Brunner and A. Mégarbané

      Accepted manuscript online: 2 NOV 2017 08:55AM EST | DOI: 10.1111/cge.13166

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    2. Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating β-catenin

      K. Upadhyay, J. Loke, V. O, B. Taragin and H. Ostrer

      Accepted manuscript online: 2 NOV 2017 08:51AM EST | DOI: 10.1111/cge.13165

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  5. ORIGINAL ARTICLES

    1. Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics

      W. Rae, D. Ward, C. Mattocks, R.J. Pengelly, E. Eren, S.V. Patel, S.N. Faust, D. Hunt and A.P. Williams

      Accepted manuscript online: 27 OCT 2017 08:35AM EST | DOI: 10.1111/cge.13163

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    2. Array-CGH Analysis in Patients with Müllerian Fusion Anomalies

      S. Ledig, A.C. Tewes, J. Hucke, T. Römer, K. Kapczuk, C. Schippert, P. Hillemanns and P. Wieacker

      Accepted manuscript online: 25 OCT 2017 09:01AM EST | DOI: 10.1111/cge.13160

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    3. Genetic Profile and Mutation Spectrum of Leber Congenital Amaurosis in a Larger Indian Cohort using High Throughput Targeted Re-sequencing

      Natarajan N. Srikrupa, Sundaramurthy Srilekha, Parveen Sen, Tharigopala Arokiasamy, Meenakshi Swaminathan, Muna Bhende, Suman Kapur and Nagasamy Soumittra

      Accepted manuscript online: 25 OCT 2017 08:55AM EST | DOI: 10.1111/cge.13159

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      Frequency of Mutations in 14/20 LCA Candidate Genes in The 61% (56/95) Indians With GUCY2D Gene Contributing The Highest (13%).

    4. Utility of Genetics for Risk Stratification in Pediatric Hypertrophic Cardiomyopathy

      J. Mathew, L. Zahavich, M. Lafreniere-Roula, J. Wilson, K. George, L. Benson, S. Bowdin and S. Mital

      Accepted manuscript online: 20 OCT 2017 07:51AM EST | DOI: 10.1111/cge.13157

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    5. Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia

      O.A. Arbiv, G. Cuvelier, R.J. Klaassen, C.V. Fernandez, N. Robitaille, M.G. Steele, V. Breakey, S. Abish, J. Wu, R. Sinha, M. Silva, L. Goodyear, L. Jardine, J.H. Lipton, C. Corriveau-Bourque, J. Brossard, B. Michon, I. Ghemlas, N. Waespe, B. Zlateska, L. Sung, M. Cada and Y. Dror

      Accepted manuscript online: 16 OCT 2017 10:30AM EST | DOI: 10.1111/cge.13158

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  6. SHORT REPORTS

    1. Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing

      M.M. França, M.F.A. Funari, M.Y. Nishi, A.M. Narcizo, S. Domenice, E.M.F. Costa, A.M. Lerario and B.B. Mendonca

      Accepted manuscript online: 16 OCT 2017 10:10AM EST | DOI: 10.1111/cge.13156

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  7. REVIEWS

    1. Cell-free DNA noninvasive prenatal screening for aneuploidy versus conventional screening: a systematic review of economic evaluations

      L Nshimyumukiza, S Menon, H Hina, F Rousseau and D Reinharz

      Accepted manuscript online: 14 OCT 2017 07:50AM EST | DOI: 10.1111/cge.13155

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  8. INVITED REVIEWS

    1. Genetics in Pulmonary Arterial Hypertension in a Large Homogeneous Japanese Population

      Shinobu Gamou, Masaharu Kataoka, Yuki Aimi, Tomohiro Chiba, Yuichi Momose, Sarasa Isobe, Tomomi Hirayama, Hideaki Yoshino, Keiichi Fukuda and Toru Satoh

      Accepted manuscript online: 10 OCT 2017 08:35AM EST | DOI: 10.1111/cge.13154

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  9. SHORT REPORTS

    1. First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation

      Muhammad Umair, Asmat Ullah, Safdar Abbas, Farooq Ahmad, Sulman Basit and Wasim Ahmad

      Accepted manuscript online: 10 OCT 2017 08:20AM EST | DOI: 10.1111/cge.13152

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  10. REVIEWS

    1. Clinician's guide to genes associated with Rett-like phenotypes – Investigation of a Danish cohort and review of the literature

      Bitten Schönewolf-Greulich, Anne-Marie Bisgaard, Rikke S Møller, Morten Dunø, Karen Brøndum-Nielsen, Simran Kaur, Nicole J Van Bergen, Sebastian Lunke, Stefanie Eggers, Cathrine Jespersgaard, John Christodoulou and Zeynep Tümer

      Accepted manuscript online: 10 OCT 2017 07:55AM EST | DOI: 10.1111/cge.13153

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  11. ORIGINAL ARTICLES

    1. Prader-Willi Syndrome Genetic Subtypes and Clinical Neuropsychiatric Diagnoses in Residential Care Adults

      Ann M. Manzardo, Nicolette Weisensel, Sheryl Ayala, Waheeda Hossain and Merlin G. Butler

      Accepted manuscript online: 6 OCT 2017 09:07AM EST | DOI: 10.1111/cge.13142

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  12. REVIEWS

    1. Digenic inheritance and genetic modifiers

      Constantinos Deltas

      Accepted manuscript online: 4 OCT 2017 11:00AM EST | DOI: 10.1111/cge.13150

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  13. INVITED REVIEWS

    1. Axenfeld-Rieger syndrome

      Morteza Seifi and Michael A Walter

      Accepted manuscript online: 3 OCT 2017 04:30AM EST | DOI: 10.1111/cge.13148

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