CLINICAL

  • Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients
    C Zweier, H Sticht, E K Bijlsma, J Clayton-Smith, S E Boonen, A Fryer, M T Greally, L Hoffmann, N S den Hollander, M Jongmans, S G Kant, M D King, S A Lynch, S McKee, A T Midro, S-M Park, V Ricotti, E Tarantino, M Wessels, M Peippo, A Rauch
  • No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing
    Douglas F Easton, Fabienne Lesueur, Brennan Decker, Kyriaki Michailidou, Jun Li, Jamie Allen, Craig Luccarini, Karen A Pooley, Mitul Shah, Manjeet K Bolla, Qin Wang, Joe Dennis, Jamil Ahmad, Ella R Thompson, Francesca Damiola, Maroulio Pertesi, Catherine Voegele, Noura Mebirouk, Nivonirina Robinot, Geoffroy Durand, Nathalie Forey, Robert N Luben, Shahana Ahmed, Kristiina Aittomäki, Hoda Anton-Culver, Volker Arndt, Australian Ovarian Cancer Study Group, Caroline Baynes, Matthias W Beckman, Javier Benitez, David Van Den Berg, William J Blot, Natalia V Bogdanova, Stig E Bojesen, Hermann Brenner, Jenny Chang-Claude, Kee Seng Chia, Ji-Yeob Choi, Don M Conroy, Angela Cox, Simon S Cross, Kamila Czene, Hatef Darabi, Peter Devilee, Mikael Eriksson, Peter A Fasching, Jonine Figueroa, Henrik Flyger, Florentia Fostira, Montserrat García-Closas, Graham G Giles, Gord Glendon, Anna González-Neira, Pascal Guénel, Christopher A Haiman, Per Hall, Steven N Hart, Mikael Hartman, Maartje J Hooning, Chia-Ni Hsiung, Hidemi Ito, Anna Jakubowska, Paul A James, Esther M John, Nichola Johnson, Michael Jones, Maria Kabisch, Daehee Kang, kConFab Investigators, Veli-Matti Kosma, Vessela Kristensen, Diether Lambrechts, Na Li, Lifepool Investigators, Annika Lindblom, Jirong Long, Artitaya Lophatananon, Jan Lubinski, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, Keitaro Matsuo, Alfons Meindl, Gillian Mitchell, Kenneth Muir, NBCS Investigators, Ines Nevelsteen, Ans van den Ouweland, Paolo Peterlongo, Sze Yee Phuah, Katri Pylkäs, Simone M Rowley, Suleeporn Sangrajrang, Rita K Schmutzler, Chen-Yang Shen, Xiao-Ou Shu, Melissa C Southey, Harald Surowy, Anthony Swerdlow, Soo H Teo, Rob A E M Tollenaar, Ian Tomlinson, Diana Torres, Thérèse Truong, Celine Vachon, Senno Verhoef, Michelle Wong-Brown, Wei Zheng, Ying Zheng, Heli Nevanlinna, Rodney J Scott, Irene L Andrulis, Anna H Wu, John L Hopper, Fergus J Couch, Robert Winqvist, Barbara Burwinkel, Elinor J Sawyer, Marjanka K Schmidt, Anja Rudolph, Thilo Dörk, Hiltrud Brauch, Ute Hamann, Susan L Neuhausen, Roger L Milne, Olivia Fletcher, Paul D P Pharoah, Ian G Campbell, Alison M Dunning, Florence Le Calvez-Kelm, David E Goldgar, Sean V Tavtigian, Georgia Chenevix-Trench
  • The revised Ghent nosology for the Marfan syndrome
    Bart L Loeys, Harry C Dietz, Alan C Braverman, Bert L Callewaert, Julie De Backer, Richard B Devereux, Yvonne Hilhorst-Hofstee, Guillaume Jondeau, Laurence Faivre, Dianna M Milewicz, Reed E Pyeritz, Paul D Sponseller, Paul Wordsworth, Anne M De Paepe
  • Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium
    Christine Fischer, Karoline Kuchenbäcker, Christoph Engel, Silke Zachariae, Kerstin Rhiem, Alfons Meindl, Nils Rahner, Nicola Dikow, Hansjörg Plendl, Irmgard Debatin, Tiemo Grimm, Dorothea Gadzicki, Ricarda Flöttmann, Judit Horvath, Evelin Schröck, Friedrich Stock, Dieter Schäfer, Ira Schwaab, Christiana Kartsonaki, Nasim Mavaddat, Brigitte Schlegelberger, Antonis C Antoniou, Rita Schmutzler, on behalf of the German Consortium for Hereditary Breast and Ovarian Cancer
  • The impact of a panel of 18 SNPs on breast cancer risk in women attending a UK familial screening clinic: a case–control study
    D Gareth Evans, Adam Brentnall, Helen Byers, Elaine Harkness, Paula Stavrinos, Anthony Howell, FH-risk study Group, William G Newman, Jack Cuzick
  • AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome
    M A Parisi, D Doherty, M L Eckert, D W W Shaw, H Ozyurek, S Aysun, O Giray, A Al Swaid, S Al Shahwan, N Dohayan, E Bakhsh, O S Indridason, W B Dobyns, C L Bennett, P F Chance, I A Glass
  • The cerebellum and embodied semantics: evidence from a case of genetic ataxia due to STUB1 mutations
    Adolfo M García, Sofía Abrevaya, Giselle Kozono, Indira García Cordero, Marta Córdoba, Marcelo Andrés Kauffman, Ricardo Pautassi, Edinson Muñoz, Lucas Sedeño, Agustín Ibáñez
  • Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome
    Pauline Arnaud, Nadine Hanna, Mélodie Aubart, Bruno Leheup, Sophie Dupuis-Girod, Sophie Naudion, Didier Lacombe, Olivier Milleron, Sylvie Odent, Laurence Faivre, Laurence Bal, Thomas Edouard, Gwenaëlle Collod-Beroud, Maud Langeois, Myrtille Spentchian, Laurent Gouya, Guillaume Jondeau, Catherine Boileau
  • Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders
    Atsuko Nishikawa, Satomi Mitsuhashi, Naomasa Miyata, Ichizo Nishino
  • Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma
    Nelly Burnichon, Jean-Michaël Mazzella, Delphine Drui, Laurence Amar, Jérôme Bertherat, Isabelle Coupier, Brigitte Delemer, Isabelle Guilhem, Philippe Herman, Véronique Kerlan, Antoine Tabarin, Nelly Wion, Khadija Lahlou-Laforet, Judith Favier, Anne-Paule Gimenez-Roqueplo

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