Molecular genetics

  • Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes
    Roslyn Varki, Sara Sadowski, Jouni Uitto, Ellen Pfendner
  • GATA4 sequence variants in patients with congenital heart disease
    A Tomita-Mitchell, C L Maslen, C D Morris, V Garg, E Goldmuntz
  • Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis
    Xin Zhang, Bi-Rong Guo, Li-Qiong Cai, Tao Jiang, Liang-Dan Sun, Yong Cui, Jing-Chu Hu, Jun Zhu, Gang Chen, Xian-Fa Tang, Guang-Qing Sun, Hua-Yang Tang, Yuan Liu, Min Li, Qi-Bin Li, Hui Cheng, Min Gao, Ping Li, Xu Yang, Xian-Bo Zuo, Xiao-Dong Zheng, Pei-Guang Wang, Jian Wang, Jun Wang, Jian-Jun Liu, Sen Yang, Ying-Rui Li, Xue-Jun Zhang
  • Cystathionine β-synthase genetic variant rs2124459 is associated with a reduced risk of cleft palate in French and Belgian populations
    Laetitia Goffinet, Abderrahim Oussalah, Rosa-Maria Guéant-Rodriguez, Céline Chery, Mirta Basha, Patrice Hodonou Avogbe, Thomas Josse, Elise Jeannesson, Pierre Rouyer, Justine Flayac, Philippe Gerard, Anne Le Touze, Béatrice Bonin-Goga, Dominique Goga, Etienne Simon, François Feillet, Miikka Vikkula, Jean-Louis Guéant
  • Meta-analysis of genome-wide association studies of HDL cholesterol response to statins
    Iris Postmus, Helen R Warren, Stella Trompet, Benoit J Arsenault, Christy L Avery, Joshua C Bis, Daniel I Chasman, Catherine E de Keyser, Harshal A Deshmukh, Daniel S Evans, QiPing Feng, Xiaohui Li, Roelof A J Smit, Albert V Smith, Fangui Sun, Kent D Taylor, Alice M Arnold, Michael R Barnes, Bryan J Barratt, John Betteridge, S Matthijs Boekholdt, Eric Boerwinkle, Brendan M Buckley, Y-D Ida Chen, Anton J M de Craen, Steven R Cummings, Joshua C Denny, Marie Pierre Dubé, Paul N Durrington, Gudny Eiriksdottir, Ian Ford, Xiuqing Guo, Tamara B Harris, Susan R Heckbert, Albert Hofman, G Kees Hovingh, John J P Kastelein, Leonore J Launer, Ching-Ti Liu, Yongmei Liu, Thomas Lumley, Paul M McKeigue, Patricia B Munroe, Andrew Neil, Deborah A Nickerson, Fredrik Nyberg, Eoin O'Brien, Christopher J O'Donnell, Wendy Post, Neil Poulter, Ramachandran S Vasan, Kenneth Rice, Stephen S Rich, Fernando Rivadeneira, Naveed Sattar, Peter Sever, Sue Shaw-Hawkins, Denis C Shields, P Eline Slagboom, Nicholas L Smith, Joshua D Smith, Nona Sotoodehnia, Alice Stanton, David J Stott, Bruno H Stricker, Til Stürmer, André G Uitterlinden, Wei-Qi Wei, Rudi G J Westendorp, Eric A Whitsel, Kerri L Wiggins, Russell A Wilke, Christie M Ballantyne, Helen M Colhoun, L Adrienne Cupples, Oscar H Franco, Vilmundur Gudnason, Graham Hitman, Colin N A Palmer, Bruce M Psaty, Paul M Ridker, Jeanette M Stafford, Charles M Stein, Jean-Claude Tardif, Mark J Caulfield, J Wouter Jukema, Jerome I Rotter, Ronald M Krauss
  • De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
    Iris M de Lange, Katherine L Helbig, Sarah Weckhuysen, Rikke S Møller, Milen Velinov, Natalia Dolzhanskaya, Eric Marsh, Ingo Helbig, Orrin Devinsky, Sha Tang, Heather C Mefford, Candace T Myers, Wim van Paesschen, Pasquale Striano, Koen van Gassen, Marjan van Kempen, Carolien G F de Kovel, Juliette Piard, Berge A Minassian, Marjan M Nezarati, André Pessoa, Aurelia Jacquette, Bridget Maher, Simona Balestrini, Sanjay Sisodiya, Marie Therese Abi Warde, Anne De St Martin, Jamel Chelly, EuroEPINOMICS-RES MAE working group, Ruben van ‘t Slot, Lionel Van Maldergem, Eva H Brilstra, Bobby P C Koeleman
  • The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes
    Aoife M Waters, Rowan Asfahani, Paula Carroll, Louise Bicknell, Francesco Lescai, Alison Bright, Estelle Chanudet, Anthony Brooks, Sonja Christou-Savina, Guled Osman, Patrick Walsh, Chiara Bacchelli, Ariane Chapgier, Bertrand Vernay, David M Bader, Charu Deshpande, Mary O’ Sullivan, Louise Ocaka, Horia Stanescu, Helen S Stewart, Friedhelm Hildebrandt, Edgar Otto, Colin A Johnson, Katarzyna Szymanska, Nicholas Katsanis, Erica Davis, Robert Kleta, Mike Hubank, Stephen Doxsey, Andrew Jackson, Elia Stupka, Mark Winey, Philip L Beales
  • Screening families with endometrial and colorectal cancers for germline mutations
    Tao Liu, Jindong Chen, Sima Salahshor, Shannon Kuismanen, Eva Holmberg, Henrik Grönberg, Päivi Peltomäki, Annika Lindblom
  • CTNND2—a candidate gene for reading problems and mild intellectual disability
    Wolfgang Hofmeister, Daniel Nilsson, Alexandra Topa, Britt-Marie Anderlid, Fahimeh Darki, Hans Matsson, Isabel Tapia Páez, Torkel Klingberg, Lena Samuelsson, Valtteri Wirta, Francesco Vezzi, Juha Kere, Magnus Nordenskjöld, Elisabeth Syk Lundberg, Anna Lindstrand
  • A dominant gene for developmental dyslexia on chromosome 3
    Jaana Nopola-Hemmi, Birgitta Myllyluoma, Tuomas Haltia, Mikko Taipale, Vesa Ollikainen, Timo Ahonen, Arja Voutilainen, Juha Kere, Elisabeth Widén

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