Clinical Genetics

Cover image for Vol. 91 Issue 4

Early View (Online Version of Record published before inclusion in an issue)

Edited By: Reiner A. Veitia

Impact Factor: 3.892

ISI Journal Citation Reports © Ranking: 2015: 42/166 (Genetics & Heredity)

Online ISSN: 1399-0004

VIEW

  1. 1 - 98
  1. SHORT REPORTS

    1. SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly

      P. Fontana, M. Grasso, F. Acquaviva, E. Gennaro, M.L. Galli, M. Falco, F. Scarano, G. Scarano and F. Lonardo

      Version of Record online: 30 MAR 2017 | DOI: 10.1111/cge.13005

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    2. Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency

      Y. Shao, M. Jiang, Y. Lin, H. Mei, W. Zhang, Y. Cai, X. Su, H. Hu, X. Li and L. Liu

      Version of Record online: 30 MAR 2017 | DOI: 10.1111/cge.13004

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    3. You have full text access to this OnlineOpen article
      Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability

      K.L. Helbig, C. Mroske, D. Moorthy, S.A. Sajan and M. Velinov

      Version of Record online: 30 MAR 2017 | DOI: 10.1111/cge.12995

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    4. Genetic testing facilitates prepubertal diagnosis of congenital hypogonadotropic hypogonadism

      C. Xu, M. Lang-Muritano, F. Phan-Hug, A.A. Dwyer, G.P. Sykiotis, D. Cassatella, J. Acierno Jr, M. Mohammadi and N. Pitteloud

      Version of Record online: 30 MAR 2017 | DOI: 10.1111/cge.12996

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      Genetic testing can complement clinical investigations for a timely diagnosis of congenital hypogonadotropic hypogonadism in childhood.

  2. ORIGINAL ARTICLES

    1. Experiences in microarray-based evaluation of developmental disabilities and congenital anomalies

      B. Ozyilmaz, O. Kirbiyik, A. Koc, T.R. Ozdemir, O.O. Kaya, M.S. Guvenc, K.M. Erdoğan and Y.B. Kutbay

      Version of Record online: 30 MAR 2017 | DOI: 10.1111/cge.12978

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  3. REVIEWS

    1. Parents’ attitudes toward genetic testing of children for health conditions: A systematic review

      Q. Lim, B.C. McGill, V.F. Quinn, K.M. Tucker, D. Mizrahi, A.F. Patenaude, M. Warby, R.J. Cohn and C.E. Wakefield

      Version of Record online: 30 MAR 2017 | DOI: 10.1111/cge.12989

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  4. Reviews

    1. PAX9 gene mutations and tooth agenesis: A review

      O. Bonczek, V.J. Balcar and O. Šerý

      Version of Record online: 30 MAR 2017 | DOI: 10.1111/cge.12986

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  5. Letters to the Editor

    1. A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy

      R.A. Sulaiman, N. Patel, H. Alsharif, S.T. Arold and F.S. Alkuraya

      Version of Record online: 30 MAR 2017 | DOI: 10.1111/cge.12963

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  6. ORIGINAL ARTICLES

    1. DEPDC5 mutations in familial and sporadic focal epilepsy

      M.-H. Tsai, C.-K. Chan, Y.-C. Chang, Y.-T. Yu, S.-T. Chuang, W.-L. Fan, S.-C. Li, T.-Y. Fu, W.-N. Chang, C.-W. Liou, Y.-C. Chuang, C.-C. Ng, D.-Y. Hwang and K.-S. Lim

      Version of Record online: 30 MAR 2017 | DOI: 10.1111/cge.12992

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    2. Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts

      Kazuhiro Iwama, Takeshi Mizuguchi, Jun-ichi Takanashi, Hidehiro Shibayama, Minobu Shichiji, Susumu Ito, Hirokazu Oguni, Toshiyuki Yamamoto, Akiko Sekine, Shun Nagamine, Yoshio Ikeda, Hiroya Nishida, Satoko Kumada, Takeshi Yoshida, Tomonari Awaya, Ryuta Tanaka, Ryo Chikuchi, Hisayoshi Niwa, Yu-ichi Oka, Satoko Miyatake, Mitsuko Nakashima, Atsushi Takata, Noriko Miyake, Shuichi Ito, Hirotomo Saitsu and Naomichi Matsumoto

      Version of Record online: 30 MAR 2017 | DOI: 10.1111/cge.12991

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  7. SHORT REPORTS

  8. LETTERS TO THE EDITOR

    1. Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum

      Shahida Moosa, Bart Loeys, Janine Altmüller, Geert Mortier, Peter Nürnberg, Yun Li, Bernd Wollnik and Ida Vogel

      Version of Record online: 30 MAR 2017 | DOI: 10.1111/cge.12990

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    2. Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants

      F. Santos-Simarro, E. Vallespin, A. del Pozo, K. Ibañez, J.C. Silla, L. Fernandez, J. Nevado, H. González-Pecellín, V.E.F. Montaño, R. Martin, L.I. Alba Valdivia, S. García-Miñaúr, P. Lapunzina and M. Palomares-Bralo

      Version of Record online: 30 MAR 2017 | DOI: 10.1111/cge.12965

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  9. Original Articles

    1. The genotype–phenotype landscape of familial amyotrophic lateral sclerosis in Australia

      E.P. McCann, K.L. Williams, J.A. Fifita, I.S. Tarr, J. O'Connor, D.B. Rowe, G.A. Nicholson and I.P. Blair

      Version of Record online: 30 MAR 2017 | DOI: 10.1111/cge.12973

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  10. Short Reports

    1. BMP15 “knockout-like” effect in familial premature ovarian insufficiency with persistent ovarian reserve

      A. Mayer, B. Fouquet, M. Pugeat and M. Misrahi

      Version of Record online: 30 MAR 2017 | DOI: 10.1111/cge.12970

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      Two sisters (A) compound heterozygous for deletions in the BMP15 gene (B) resulting in frameshifts with premature stop codons at positions 78 and 76 in the proregion (C). One sister had primary amenorrhea and the other primo-secondary amenorrhea. Despite streak ovaries devoid of follicles on ultrasonography, AMH values are compatible with persistent primary follicles reflecting an ovarian reserve. BMP15 did not seem critical for follicles to enter the growth phase. Genetic counselling should be performed and fertility preservation discussed before progressive loss of follicular reserve. The fertility heterozygous mother (A, B) did not support previous reports of BMP15 haploinsufficiency and gene dosage in humans. The hemizygous brother (A, B) had asthenozoospermia, consistent with previous observations in bulls with a variant BMP15.

  11. SHORT REPORTS

    1. The Danish HD Registry—a nationwide family registry of HD families in Denmark

      M. Gilling, E. Budtz-Jørgensen, S.E. Boonen, D. Lildballe, A. Bojesen, J.M. Hertz and S.A. Sørensen

      Version of Record online: 28 MAR 2017 | DOI: 10.1111/cge.12984

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  12. ORIGINAL ARTICLES

    1. You have full text access to this OnlineOpen article
      Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome

      Maren F. Hansen, Jostein Johansen, Anna E. Sylvander, Inga Bjørnevoll, Bente A. Talseth-Palmer, Liss A. S. Lavik, Alexandre Xavier, Lars F. Engebretsen, Rodney J. Scott, Finn Drabløs and Wenche Sjursen

      Version of Record online: 22 MAR 2017 | DOI: 10.1111/cge.12994

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  13. Letters to the Editor

    1. Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants

      M. Gigante, S. Diella, L. Santangelo, E. Trevisson, M.J. Acosta, M. Amatruda, G. Finzi, G. Caridi, L. Murer, M. Accetturo, E. Ranieri, G.M. Ghiggeri, M. Giordano, G. Grandaliano, L. Salviati and L. Gesualdo

      Version of Record online: 22 MAR 2017 | DOI: 10.1111/cge.12960

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  14. Short Reports

    1. Homozygous deletion of RAG1, RAG2 and 5′ region TRAF6 causes severe immune suppression and atypical osteopetrosis

      M. Weisz Hubshman, L. Basel-Vanagaite, A. Krauss, O. Konen, Y. Levy, B.Z. Garty, P. Smirin-Yosef, I. Maya, I. Lagovsky, E. Taub, D. Marom, D. Gaash, K. Shichrur, S. Avigad, L. Hayman-Manzur, A. Villa, C. Sobacchi, M. Shohat, I. Yaniv and J. Stein

      Version of Record online: 19 MAR 2017 | DOI: 10.1111/cge.12916

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      Left picture-increased radio density of the long bones of the leg and a pathological fracture suggesting osteopetrosis. Right picture- after about 45 days, note exuberant femoral callus, metaphyseal widening of the distal femur and proximal tibia, with splaying and fraying.

  15. SHORT REPORTS

    1. Cartilage-hair hypoplasia with normal height in childhood—4 patients with a unique genotype

      P. Klemetti, H. Valta, S. Kostjukovits, M. Taskinen, S. Toiviainen-Salo and O. Mäkitie

      Version of Record online: 19 MAR 2017 | DOI: 10.1111/cge.12969

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    2. A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants

      M. Baumann, E. Steichen-Gersdorf, B. Krabichler, T. Müller and A.R. Janecke

      Version of Record online: 19 MAR 2017 | DOI: 10.1111/cge.12967

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  16. Reviews

  17. ORIGINAL ARTICLES

    1. Association of genetic variation with blood pressure traits among East Africans

      J. Kayima, J. Liang, Y. Natanzon, J. Nankabirwa, I. Ssinabulya, J. Nakibuuka, A. Katamba, H. Mayanja-Kizza, A. Miron, C. Li and X. Zhu

      Version of Record online: 19 MAR 2017 | DOI: 10.1111/cge.12974

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    2. Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype–phenotype study

      C. Tardieu, S. Jung, K. Niederreither, M. Prasad, S. Hadj-Rabia, N. Philip, A. Mallet, E. Consolino, E. Sfeir, B. Noueiri, N. Chassaing, H. Dollfus, M.C. Manière, A. Bloch-Zupan and F. Clauss

      Version of Record online: 19 MAR 2017 | DOI: 10.1111/cge.12972

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  18. SHORT REPORTS

    1. A 15-year-long Southern blotting analysis of FMR1 to detect female carriers and for prenatal diagnosis of fragile X syndrome in Taiwan

      C.-C. Tzeng, L.-P. Tsai, Y.-K. Chang, Y.-J. Hung, Y.-Y. Chang, Y.-P. Su, J.-J. Jiang and H.-M. Liang

      Version of Record online: 19 MAR 2017 | DOI: 10.1111/cge.12981

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  19. LETTERS TO THE EDITOR

    1. A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb

      T. Ohnesorg, J.A. van den Bergen, D. Belluoccio, N. Shankara-Narayana, A.-M. Kean, A. Vasilaras, L. Ewans, K.L. Ayers and A.H. Sinclair

      Version of Record online: 19 MAR 2017 | DOI: 10.1111/cge.12976

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      A custom CGH microarray that covers the SOX9 regulatory region. Log2 ratio scatterplot showing individual data points. Blue box highlights copy number gain with 3′ breakpoint region magnified.

  20. Letters to the Editor

    1. EDA mutation by exome sequencing in non-syndromic X-linked oligodontia

      L. Martins, R. A. Machado, D. S. Araujo, P. A. Giovani, P. D. Rebouças, L. P. Rodrigues, L. S. Mofatto, M. M. Ribeiro, L. L. Coutinho, R. M. Puppin-Rontani, R. D. Coletta, F. H. Nociti Jr and K. R. Kantovitz

      Version of Record online: 19 MAR 2017 | DOI: 10.1111/cge.12961

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  21. ORIGINAL ARTICLES

    1. Genetic profiling of children with advanced cholestatic liver disease

      M. Shagrani, J. Burkholder, D. Broering, M. Abouelhoda, T. Faquih, M. El-Kalioby, S.N. Subhani, E. Goljan, R. Albar, D. Monies, N. Mazhar, B.S. AlAbdulaziz, K.A. Abdelrahman, N. Altassan and F.S. Alkuraya

      Version of Record online: 17 MAR 2017 | DOI: 10.1111/cge.12959

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  22. Short Reports

    1. Genotype–phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II

      L. Dvorakova, H. Vlaskova, A. Sarajlija, D. P. Ramadza, H. Poupetova, E. Hruba, A. Hlavata, V. Bzduch, K. Peskova, G. Storkanova, B. Kecman, M. Djordjevic, I. Baric, K. Fumic, I. Barisic, M. Reboun, J. Kulhanek, J. Zeman and M. Magner

      Version of Record online: 17 MAR 2017 | DOI: 10.1111/cge.12927

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    2. Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect

      D. Verrigni, D. Diodato, M. Di Nottia, A. Torraco, E. Bellacchio, T. Rizza, G. Tozzi, M. Verardo, F. Piemonte, G. Tasca, A. D'Amico, E. Bertini and R. Carrozzo

      Version of Record online: 17 MAR 2017 | DOI: 10.1111/cge.12931

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  23. Letters to the Editor

    1. Deletion of the transcription factor SOX4 is implicated in syndromic nephroblastoma

      A. Trimouille, E. Barouk-Simonet, S. Charron, J. Bouron, J.-C. Bernhard, D. Lacombe, P. Fergelot and C. Rooryck

      Version of Record online: 16 MAR 2017 | DOI: 10.1111/cge.12977

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  24. Reviews

  25. Short Reports

    1. Mutations in CRLF1 cause familial achalasia

      A. Busch, M. Žarković, C. Lowe, M. Jankofsky, R. Ganschow, I. Buers, I. Kurth, H. Reutter, F. Rutsch and C.A. Hübner

      Version of Record online: 15 MAR 2017 | DOI: 10.1111/cge.12953

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  26. Reviews

    1. Systematic approach to understanding the pathogenesis of systemic sclerosis

      Xiaoxia Zuo, Lihua Zhang, Hui Luo, Yisha Li and Honglin Zhu

      Version of Record online: 15 MAR 2017 | DOI: 10.1111/cge.12946

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  27. ORIGINAL ARTICLES

    1. Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing

      T.B. Balci, T. Hartley, Y. Xi, D.A. Dyment, C.L. Beaulieu, F.P. Bernier, L. Dupuis, G.A. Horvath, R. Mendoza-Londono, C. Prasad, J. Richer, X.-R. Yang, C.M. Armour, E. Bareke, B.A. Fernandez, H.J. McMillan, R.E. Lamont, J. Majewski, J.S. Parboosingh, A.N. Prasad, C.A. Rupar, J. Schwartzentruber, A.C. Smith, M. Tétreault, FORGE Canada Consortium, Care4Rare Canada Consortium, A.M. Innes and K.M. Boycott

      Version of Record online: 13 MAR 2017 | DOI: 10.1111/cge.12987

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  28. Original Articles

    1. Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino–Noonan type

      N. Badiner, S.P. Taylor, K. Forlenza, R. S. Lachman, University of Washington Center for Mendelian Genomics, M. Bamshad, D. Nickerson, D. H. Cohn and D. Krakow

      Version of Record online: 13 MAR 2017 | DOI: 10.1111/cge.12947

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    2. You have full text access to this OnlineOpen article
      Evaluation of a population-based approach to familial colorectal cancer

      P.S. Parfrey, E. Dicks, O. Parfrey, P.J. McNicholas, H. Noseworthy, M.O. Woods, C. Negriin and J. Green

      Version of Record online: 8 MAR 2017 | DOI: 10.1111/cge.12877

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      Flow chart for patients provided colonoscopic screening recommendations in the familial colorectal cancer clinic.

    3. Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself

      R. Scheuvens, M. Begemann, L. Soellner, D. Meschede, G. Raabe-Meyer, M. Elbracht, R. Schubert and T. Eggermann

      Version of Record online: 8 MAR 2017 | DOI: 10.1111/cge.12958

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    4. Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families

      L. Liu, X.B. Li, Z.H.M. Hu, X.H. Zi, X. Zhao, Y.Z. Xie, S.H.X. Huang, K. Xia, B.S. Tang and R.X. Zhang

      Version of Record online: 8 MAR 2017 | DOI: 10.1111/cge.12913

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  29. Short Reports

    1. Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome

      Y.A. Zarate, L. Kalsner, A. Basinger, J.R. Jones, C. Li, M. Szybowska, Z.L. Xu, S. Vergano, A.R. Caffrey, C.V. Gonzalez, H. Dubbs, E. Zackai, F. Millan, A. Telegrafi, B. Baskin, R. Person, J.L. Fish and D.B. Everman

      Version of Record online: 7 MAR 2017 | DOI: 10.1111/cge.12982

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  30. ORIGINAL ARTICLES

    1. Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2

      M.L. van den Boogaard, P.E. Thijssen, C. Aytekin, F. Licciardi, A.A. Kıykım, L. Spossito, V.A.S.H. Dalm, G.J. Driessen, R. Kersseboom, F. de Vries, M.M. van Ostaijen-ten Dam, A. Ikinciogullari, F. Dogu, M. Oleastro, E. Bailardo, L. Daxinger, E. Nain, S. Baris, M.J.D. van Tol, C. Weemaes and S.M. van der Maarel

      Version of Record online: 7 MAR 2017 | DOI: 10.1111/cge.12979

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  31. Original Articles

    1. Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

      S. Nambot, D. Gavrilov, J. Thevenon, A.L. Bruel, M. Bainbridge, M. Rio, C. Goizet, A. Rötig, J. Jaeken, N. Niu, F. Xia, A. Vital, N. Houcinat, F. Mochel, P. Kuentz, D. Lehalle, Y. Duffourd, J.B. Rivière, C. Thauvin-Robinet, A.L. Beaudet and L. Faivre

      Version of Record online: 1 MAR 2017 | DOI: 10.1111/cge.12985

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  32. Letters to the Editor

    1. A novel missense mutation in NR0B1 causes delayed-onset primary adrenal insufficiency in adults

      C.-M. Oh, S. Chun, J.-E. Lee, J.S. Lee, S. Park, H.Y. Gee and S.W. Kim

      Version of Record online: 1 MAR 2017 | DOI: 10.1111/cge.12966

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      A novel missense mutation (c.775T>C; p.ser259Pro) in the NROBI gene cause a late-onset adrenal insufficiency without hypogonadism.

  33. INVITED REVIEWS

  34. Original Articles

    1. Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

      E. Ranza, C. Huber, N. Levin, G. Baujat, C. Bole-Feysot, P. Nitschke, C. Masson, Y. Alanay, L. Al-Gazali, P. Bitoun, O. Boute, P. Campeau, C. Coubes, M. McEntagart, N. Elcioglu, L. Faivre, A. Gezdirici, D. Johnson, E. Mihci, B.G. Nur, L. Perrin, C. Quelin, P. Terhal, B. Tuysuz and V. Cormier-Daire

      Version of Record online: 23 FEB 2017 | DOI: 10.1111/cge.12885

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  35. Short Reports

    1. Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia

      J. Barraza-García, C.I. Rivera-Pedroza, A. Hisado-Oliva, A. Belinchón-Martínez, L. Sentchordi-Montané, E.L. Duncan, G.R. Clark, A. del Pozo, K. Ibáñez-Garikano, A. Offiah, P. Prieto-Matos, V. Cormier-Daire and K.E. Heath

      Version of Record online: 22 FEB 2017 | DOI: 10.1111/cge.12964

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    2. Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex

      G. Yang, Z.N. Shi, Y. Meng, X.Y. Shi, L.Y. Pang, S.F. Ma, M.N. Zhang, Y.Y. Wang and L.P. Zou

      Version of Record online: 22 FEB 2017 | DOI: 10.1111/cge.12920

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    3. SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management

      C. Colson, E. Aubry, M. Cartigny, A.-A. Rémy, H. Franquet, X. Leroy, G. Kéchid, C. Lefèvre, R. Besson, M. Cools, A.F. Spinoit, C. Sultan, S. Manouvrier, P. Philibert and J. Ghoumid

      Version of Record online: 22 FEB 2017 | DOI: 10.1111/cge.12957

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  36. Original Articles

    1. Multilocus analysis reveals three candidate genes for Chinese migraine susceptibility

      X.-K. An, J. Fang, Z.-Z. Yu, Q. Lin, C.-X. Lu, H.-L. Qu and Q.-L. Ma

      Version of Record online: 22 FEB 2017 | DOI: 10.1111/cge.12962

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  37. Reviews

  38. Short Reports

    1. Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay

      N. Orenstein, K. Weiss, S.N. Oprescu, R. Shapira, D. Kidron, L. Vanagaite-Basel, A. Antonellis and M. Muenke

      Version of Record online: 22 FEB 2017 | DOI: 10.1111/cge.12930

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  39. Original Articles

    1. Alport syndrome: impact of digenic inheritance in patients management

      C. Fallerini, M. Baldassarri, E. Trevisson, V. Morbidoni, A. La Manna, R. Lazzarin, A. Pasini, G. Barbano, A.R. Pinciaroli, G. Garosi, E. Frullanti, A.M. Pinto, M.A. Mencarelli, F. Mari, A. Renieri and F. Ariani

      Version of Record online: 22 FEB 2017 | DOI: 10.1111/cge.12919

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    2. Genetic heterogeneity in Pakistani microcephaly families revisited

      I. Ahmad, S. M. Baig, A. R. Abdulkareem, M. S. Hussain, I. Sur, M. R. Toliat, G. Nürnberg, N. Dalibor, A. Moawia, S. S. Waseem, M. Asif, H. Nagra, M. Sher, M. M. A. Khan, I. Hassan, S. ur Rehman, H. Thiele, J. Altmüller, A. A. Noegel and P. Nürnberg

      Version of Record online: 22 FEB 2017 | DOI: 10.1111/cge.12955

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  40. Reviews

    1. Catastrophic cellular events leading to complex chromosomal rearrangements in the germline

      M. Fukami, H. Shima, E. Suzuki, T. Ogata, K. Matsubara and T. Kamimaki

      Version of Record online: 22 FEB 2017 | DOI: 10.1111/cge.12928

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  41. Invited Reviews

    1. GLI3-related polydactyly: a review

      M.M. Al-Qattan, H.E. Shamseldin, M.A. Salih and F.S. Alkuraya

      Version of Record online: 22 FEB 2017 | DOI: 10.1111/cge.12952

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  42. Short Reports

    1. Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis

      M. Lefebvre, Y. Duffourd, T. Jouan, C. Poe, N. Jean-Marçais, A. Verloes, J. St-Onge, J.-B. Riviere, F. Petit, G. Pierquin, B. Demeer, P. Callier, C. Thauvin-Robinet, L. Faivre and J. Thevenon

      Version of Record online: 22 FEB 2017 | DOI: 10.1111/cge.12918

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  43. LETTERS TO THE EDITOR

    1. Novel founder mutation in French-Canadian families with Naxos disease

      T. Cruz Marino, B. Maranda, J. Leblanc, A. Pratte, M. Barabas, A. Dupéré and S. Lévesque

      Version of Record online: 22 FEB 2017 | DOI: 10.1111/cge.12971

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  44. SHORT REPORTS

    1. Genetic profile of Brazilian patients with dystrophinopathies

      P.A.D. de Almeida, M.C. Machado-Costa, G.N. Manzoli, L.S. Ferreira, M.C.S. Rodrigues, L.S.M. Bueno, J.A.M. Saute, F. Pinto Vairo, U.S. Matte, M. Siebert, S.L. Cossio, G.S. Macedo, P.B. Winckler, M.M. Becker, L.V.B. Magalhães, M.V.M. Gonçalves, C.D. Marrone, A. Nucci and M.C. França Jr

      Version of Record online: 22 FEB 2017 | DOI: 10.1111/cge.12975

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  45. Invited Reviews

    1. The inheritance of juvenile onset primary open angle glaucoma

      V. Gupta, B.I. Somarajan, S. Gupta, A.K. Chaurasia, S. Kumar, P. Dutta, V. Gupta, A. Sharma, B.O. Tayo and K. Nischal

      Version of Record online: 16 FEB 2017 | DOI: 10.1111/cge.12906

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      Juvenile onset open angle glaucoma may have different forms of inheritance, as there is a possibility of different genetic loci segregating in different populations causing the disease.

  46. Original Articles

    1. You have full text access to this OnlineOpen article
      Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy

      Q. Zhang, J. Li, Y. Zhao, X. Bao, L. Wei and J. Wang

      Version of Record online: 16 FEB 2017 | DOI: 10.1111/cge.12901

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    2. Spectrum of ATP7B mutations and genotype–phenotype correlation in large-scale Chinese patients with Wilson Disease

      N. Cheng, H. Wang, W. Wu, R. Yang, L. Liu, Y. Han, L. Guo, J. Hu, L. Xu, J. Zhao, Y. Han, Q. Liu, K. Li, X. Wang and W. Chen

      Version of Record online: 16 FEB 2017 | DOI: 10.1111/cge.12951

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  47. Letters to the Editor

    1. ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant

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

      Version of Record online: 6 FEB 2017 | DOI: 10.1111/cge.12909

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      We report a novel ARL2BP splice site mutation after whole-exome sequencing (WES) applied to a Moroccan family including two sisters affected with autosomal recessive rod-cone dystrophy (arRCD). Subsequent analysis of 844 index cases did not reveal further pathogenic chances in ARL2BP indicating that mutations in ARL2B are a rare cause of arRCD (about 0.1%) in a large cohort of French patients.

  48. Mini Reviews

    1. CHARGE syndrome gastrointestinal involvement: from mouth to anus

      A. Hudson, M. Macdonald, J.N. Friedman and K. Blake

      Version of Record online: 2 FEB 2017 | DOI: 10.1111/cge.12892

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      A review of the common gastrointestinal and feeding difficulties in CHARGE syndrome.

  49. Letters to the Editor

    1. Twin-sisters with PLA2G6-associated neurodegeneration due to paternal isodisomy of the chromosome 22 following in vitro fertilization

      C. Tello, A. Darling, V. Lupo, C.I. Ortez, B. Pérez-Dueñas and C. Espinós

      Version of Record online: 1 FEB 2017 | DOI: 10.1111/cge.12925

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  50. Original Articles

    1. PUGS: A novel scale to assess perceptions of uncertainties in genome sequencing

      B.B. Biesecker, S.W. Woolford, W.M.P. Klein, K.B. Brothers, K.L. Umstead, K.L. Lewis, L.G. Biesecker and P.K.J. Han

      Version of Record online: 30 JAN 2017 | DOI: 10.1111/cge.12949

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  51. Letters to the Editor

    1. p.Phe508del, p.Gly542X, p.Arg1162X, p.Asn1303Lys, and p.Lys683serfsX38 mutations in CF newborn screening of Brazilian children

      D.I.R. Ribas, C.H. Escaliante, C.G. Bortoli, C.R.F. de Oliveira, L.R. Mikami, C.A. Riedi, S. Raskin, N.A. Rosário Filho and L. Pereira-Ferrari

      Version of Record online: 30 JAN 2017 | DOI: 10.1111/cge.12903

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    2. Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome

      M. Vivero, M.T. Cho, A. Begtrup, I.M. Wentzensen, L. Walsh, K. Payne, Y.A. Zarate, K. Bosanko, G.B. Schaefer, S. DeBrosse, L. Pollack, K. Mason, K. Retterer, S. DeWard, J. Juusola and W.K. Chung

      Version of Record online: 30 JAN 2017 | DOI: 10.1111/cge.12899

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    3. Somatic mosaicism for a SLC2A1 mutation: implications for genetic counseling for GLUT1 deficiency syndrome

      S. Takahashi, M. Matsufuji, C. Yonee, H. Tsuru, N. Sano and H. Oguni

      Version of Record online: 26 JAN 2017 | DOI: 10.1111/cge.12902

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      A heterozygous SLC2A1 mutation in the severely affected child was inherited from his less severely affected mother who was mosaic for the mutation.

    4. Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

      D. Stern, M.T. Cho, R. Chikarmane, R. Willaert, K. Retterer, F. Kendall, M. Deardorff, S. Hopkins, E. Bedoukian, A. Slavotinek, S. Schrier Vergano, B. Spangler, M. McDonald, A. McConkie-Rosell, B.K. Burton, K.H. Kim, N. Oundjian, D. Kronn, N. Chandy, B. Baskin, M.J. Guillen Sacoto, I.M. Wentzensen, H.M. McLaughlin, D. McKnight and W.K. Chung

      Version of Record online: 23 JAN 2017 | DOI: 10.1111/cge.12956

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      Graphical abstract key: ADHD, attention deficit hyperactivity disorder; ASD, atrial septal defect; DD, developmental delay; EEG, electroencephalogram; Ht, height; ID, intellectual disability; OCD, obsessive-compulsive disorder; OFC, open fontanelle; PDA, patent ductus arteriosis; PFO, patent foramen ovale; VSD, ventricular septal defect; Wt, weight.

  52. Original Articles

    1. The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome

      S. Kletke, V. Batmanabane, T. Dai, A. Vincent, S. Li, K.A. Gordon, B.C. Papsin, S.L. Cushing and E. Héon

      Version of Record online: 16 JAN 2017 | DOI: 10.1111/cge.12895

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  53. Letters to the Editor

    1. A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease

      N. Chatron, G. Lesca, A. Labalme, P.A. Rollat-Farnier, P. Monin, E. Pichot, P. Edery, D. Sanlaville and M. Rossi

      Version of Record online: 16 JAN 2017 | DOI: 10.1111/cge.12907

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  54. Original Articles

    1. Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

      A. Lumaka, N. Cosemans, A. Lulebo Mampasi, G. Mubungu, N. Mvuama, T. Lubala, S. Mbuyi-Musanzayi, J. Breckpot, M. Holvoet, T. de Ravel, G. Van Buggenhout, H. Peeters, D. Donnai, L. Mutesa, A. Verloes, P. Lukusa Tshilobo and K. Devriendt

      Version of Record online: 16 JAN 2017 | DOI: 10.1111/cge.12948

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    2. Clinical application of SNP array analysis in first-trimester pregnancy loss: a prospective study

      Y. Wang, Q. Cheng, L. Meng, C. Luo, H. Hu, J. Zhang, J. Cheng, T. Xu, T. Jiang, D. Liang, P. Hu and Z. Xu

      Version of Record online: 22 DEC 2016 | DOI: 10.1111/cge.12926

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    3. Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1)

      C. Neuhaus, R. Lang-Roth, U. Zimmermann, R. Heller, T. Eisenberger, M. Weikert, S. Markus, M. Knipper and H.J. Bolz

      Version of Record online: 16 DEC 2016 | DOI: 10.1111/cge.12915

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    4. Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy

      B. Pode-Shakked, H. Barash, L. Ziv, K.W. Gripp, E. Flex, O. Barel, K.S. Carvalho, M. Scavina, G. Chillemi, M. Niceta, E. Eyal, N. Kol, B. Ben-Zeev, O. Bar-Yosef, D. Marek-Yagel, E. Bertini, A.L. Duker, Y. Anikster, M. Tartaglia and A. Raas-Rothschild

      Version of Record online: 16 DEC 2016 | DOI: 10.1111/cge.12914

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    5. BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies

      Y.H. Jee, N. Sowada, T.C. Markello, I. Rezvani, G. Borck and J. Baron

      Version of Record online: 12 DEC 2016 | DOI: 10.1111/cge.12887

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      Functional study of P292R mutation in yeast lacking Brf1.

    6. Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly

      K.D. Kernohan, A. McBride, Y. Xi, N. Martin, J. Schwartzentruber, D.A. Dyment, J. Majewski, S. Blaser, Care4Rare Canada Consortium, K.M. Boycott and D. Chitayat

      Version of Record online: 30 NOV 2016 | DOI: 10.1111/cge.12884

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  55. Reviews

    1. Baraitser–Winter cerebrofrontofacial syndrome

      T.M. Yates, C.L. Turner, H.V. Firth, J. Berg and D.T. Pilz

      Version of Record online: 30 NOV 2016 | DOI: 10.1111/cge.12864

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  56. Letters to the Editor

  57. Original Articles

    1. Hematopoietically expressed homeobox (HHEX) gene polymorphism (rs5015480) is associated with increased risk of gestational diabetes mellitus

      M. Tarnowski, D. Malinowski, K. Safranow, V. Dziedziejko, M. Czerewaty and A. Pawlik

      Version of Record online: 30 NOV 2016 | DOI: 10.1111/cge.12875

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  58. Reviews

    1. Genetics of syndromic and non-syndromic hereditary nail disorders

      C. Bergqvist, P. Ramia, O. Abbas and M. Kurban

      Version of Record online: 24 NOV 2016 | DOI: 10.1111/cge.12852

  59. Letters to the Editor

    1. Molecular characterization of PI*Q0la palma, a new alpha-1-antitrypsin null allele that combines two defective genetic variants

      J.M. Hernández-Pérez, R. Ramos-Díaz, S. Fumero-García and J.A. Pérez

      Version of Record online: 24 NOV 2016 | DOI: 10.1111/cge.12889

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  60. Original Articles

    1. Factors related to genetic testing in adults at risk for Huntington disease: the prospective Huntington at-risk observational study (PHAROS)

      K.A. Quaid, S.W. Eberly, E. Kayson-Rubin, D. Oakes, I. Shoulson and on behalf of the Huntington Study Group PHAROS Investigators and Coordinators

      Version of Record online: 24 NOV 2016 | DOI: 10.1111/cge.12893

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      Mean (SE) Beck Depression score before and after the visit at which testing was disclosed (N = 61).

    2. Effects of S906T polymorphism on the severity of a novel borderline mutation I692M in Nav1.4 cause periodic paralysis

      C. Fan, N. Mao, F. Lehmann-Horn, J. Bürmann and K. Jurkat-Rott

      Version of Record online: 24 NOV 2016 | DOI: 10.1111/cge.12880

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  61. Short Reports

    1. A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis

      M. Garibaldi, F. Fattori, B. Riva, C. Labasse, G. Brochier, P. Ottaviani, S. Sacconi, E. Vizzaccaro, F. Laschena, N.B. Romero, A. Genazzani, E. Bertini and G. Antonini

      Version of Record online: 23 NOV 2016 | DOI: 10.1111/cge.12888

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  62. Reviews

    1. Sociodemographic, psychosocial and clinical factors associated with uptake of genetic counselling for hereditary cancer: a systematic review

      A.M. Willis, S.K. Smith, B. Meiser, M.L. Ballinger, D.M. Thomas and M.-A. Young

      Version of Record online: 23 OCT 2016 | DOI: 10.1111/cge.12868

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  63. Original Articles

    1. Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations

      M.A. Shahrour, O. Staretz-Chacham, D. Dayan, J. Stephen, A. Weech, N. Damseh, H. Pri Chen, S. Edvardson, S. Mazaheri, A. Saada, NISC Intramural Sequencing, E. Hershkovitz, A. Shaag, M. Huizing, B. Abu-Libdeh, W.A Gahl, A. Azem, Y. Anikster, T. Vilboux, O. Elpeleg and M.C. Malicdan

      Version of Record online: 12 OCT 2016 | DOI: 10.1111/cge.12855

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    2. You have full text access to this OnlineOpen article
      Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features

      J.S. Cohen, S. Srivastava, K.D. Farwell Hagman, D.N. Shinde, R. Huether, D. Darcy, R. Wallerstein, G. Houge, S. Berland, K.G. Monaghan, A. Poretti, A.L. Wilson, W.K. Chung and A. Fatemi

      Version of Record online: 10 OCT 2016 | DOI: 10.1111/cge.12861

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  64. Reviews

    1. Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2

      G.C. Dworschak, C. Crétolle, A. Hilger, H. Engels, E. Korsch, H. Reutter and M. Ludwig

      Version of Record online: 10 OCT 2016 | DOI: 10.1111/cge.12848

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  65. Original Articles

    1. DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7

      M. Di Nottia, M. Masciullo, D. Verrigni, S. Petrillo, A. Modoni, V. Rizzo, D. Di Giuda, T. Rizza, M. Niceta, A. Torraco, M. Bianchi, M. Santoro, A.R. Bentivoglio, E. Bertini, F. Piemonte, R. Carrozzo and G. Silvestri

      Version of Record online: 6 OCT 2016 | DOI: 10.1111/cge.12841

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  66. Short Reports

    1. De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females

      R. Webster, M.T. Cho, K. Retterer, F. Millan, C. Nowak, J. Douglas, A. Ahmad, G.V. Raymond, M.R. Johnson, A. Pujol, A. Begtrup, D. McKnight, O. Devinsky and W.K. Chung

      Version of Record online: 29 SEP 2016 | DOI: 10.1111/cge.12854

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    2. KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy

      M. Rydzanicz, M. Jagła, J. Kosinska, T. Tomasik, A. Sobczak, A. Pollak, I. Herman-Sucharska, A. Walczak, P. Kwinta and R. Płoski

      Version of Record online: 16 SEP 2016 | DOI: 10.1111/cge.12831

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    3. Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology

      F. Piceci, S. Morlino, M. Castori, E. Buffone, A. De Luca, P. Grammatico and V. Guida

      Version of Record online: 13 SEP 2016 | DOI: 10.1111/cge.12845

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      Schematic representation of the HOXA2 gene and corresponding protein product showing the position of the c.670G > T p.(Glu224*) mutation and recognized protein domains.

  67. Reviews

    1. A practical approach to ichthyoses with systemic manifestations

      S. Saral, A. Vural, A. Wollenberg and T. Ruzicka

      Version of Record online: 22 AUG 2016 | DOI: 10.1111/cge.12828

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  68. Original Articles

    1. Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants

      C.P. Savastano, L.A. Brito, Á.C. Faria, N. Setó-Salvia, E. Peskett, C.M. Musso, L. Alvizi, S.A.M. Ezquina, C. James, GOSgene, P. Beales, M. Lees, G.E. Moore, P. Stanier and M.R. Passos-Bueno

      Version of Record online: 26 JUL 2016 | DOI: 10.1111/cge.12823

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    2. Association of a type 2 diabetes genetic risk score with insulin secretion modulated by insulin sensitivity among Chinese Hans

      X. Kong, X. Xing, J. Hong, X. Zhang and W. Yang

      Version of Record online: 21 JUL 2016 | DOI: 10.1111/cge.12817

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      The present study aimed to identify the influence of insulin sensitivity on the genetic risk of impaired insulin secretion among a Chinese Han population. Results showed that GRS was associated with insulin secretion and disposition indices in both controls and treatment-naive type 2 diabetes (T2D) patients. Upon stratifying the participants into tertiles by the Matsuda index, we observed an inhibitory relationship between the GRS and insulin secretion in low insulin sensitive but not in high insulin sensitive controls and treatment-naive T2Ds. Low insulin sensitive individuals exhibited more severe impairment in insulin secretion and beta cell response to insulin sensitivity with an increase in risk alleles. It indicates that insulin sensitization should be emphasized in prevention and treatment of T2D for beta cell protection in Chinese Hans.

  69. Short Reports

    1. The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis

      O. Shamriz, A. Shaag, B. Yaacov, A. NaserEddin, M. Weintraub, O. Elpeleg and P. Stepensky

      Version of Record online: 2 JUN 2016 | DOI: 10.1111/cge.12804

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