Clinical genetics

  • Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure
    Yardena Tenenbaum-Rakover, Ariella Weinberg-Shukron, Paul Renbaum, Orit Lobel, Hasan Eideh, Suleyman Gulsuner, Dvir Dahary, Amal Abu-Rayyan, Moien Kanaan, Ephrat Levy-Lahad, Dani Bercovich, David Zangen
  • Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome
    Tawfeg Ben-Omran, Somayyeh Fahiminiya, Natalie Sorfazlian, Mariam Almuriekhi, Zafar Nawaz, Javad Nadaf, Kitam Abu Khadija, Samiha Zaineddin, Hussein Kamel, Jacek Majewski, Vincent Tropepe
  • Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers
    Rachel S van der Post, Ingrid P Vogelaar, Fátima Carneiro, Parry Guilford, David Huntsman, Nicoline Hoogerbrugge, Carlos Caldas, Karen E Chelcun Schreiber, Richard H Hardwick, Margreet G E M Ausems, Linda Bardram, Patrick R Benusiglio, Tanya M Bisseling, Vanessa Blair, Eveline Bleiker, Alex Boussioutas, Annemieke Cats, Daniel Coit, Lynn DeGregorio, Joana Figueiredo, James M Ford, Esther Heijkoop, Rosella Hermens, Bostjan Humar, Pardeep Kaurah, Gisella Keller, Jennifer Lai, Marjolijn J L Ligtenberg, Maria O'Donovan, Carla Oliveira, Hugo Pinheiro, Krish Ragunath, Esther Rasenberg, Susan Richardson, Franco Roviello, Hans Schackert, Raquel Seruca, Amy Taylor, Anouk ter Huurne, Marc Tischkowitz, Sheena Tjon A Joe, Benjamin van Dijck, Nicole C T van Grieken, Richard van Hillegersberg, Johanna W van Sandick, Rianne Vehof, J Han van Krieken, Rebecca C Fitzgerald
  • CRISPR-Cas9: a new and promising player in gene therapy
    Lu Xiao-Jie, Xue Hui-Ying, Ke Zun-Ping, Chen Jin-Lian, Ji Li-Juan
  • A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life
    Chiara Calore, Marzia De Bortoli, Chiara Romualdi, Alessandra Lorenzon, Annalisa Angelini, Cristina Basso, Gaetano Thiene, Sabino Iliceto, Alessandra Rampazzo, Paola Melacini
  • BRCA1 Circos: a visualisation resource for functional analysis of missense variants
    Ankita Jhuraney, Aneliya Velkova, Randall C Johnson, Bailey Kessing, Renato S Carvalho, Phillip Whiley, Amanda B Spurdle, Maaike P G Vreeswijk, Sandrine M Caputo, Gael A Millot, Ana Vega, Nicolas Coquelle, Alvaro Galli, Diana Eccles, Marinus J Blok, Tuya Pal, Rob B van der Luijt, Marta Santamariña Pena, Susan L Neuhausen, Talia Donenberg, Eva Machackova, Simon Thomas, Maxime Vallée, Fergus J Couch, Sean V Tavtigian, J N Mark Glover, Marcelo A Carvalho, Lawrence C Brody, Shyam K Sharan, Alvaro N Monteiro,
  • MuSK: a new target for lethal fetal akinesia deformation sequence (FADS)
    Maria Wilbe, Sara Ekvall, Karin Eurenius, Katharina Ericson, Olivera Casar-Borota, Joakim Klar, Niklas Dahl, Adam Ameur, Göran Annerén, Marie-Louise Bondeson
  • 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
  • Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement
    Sigrid W Fouchier, Barbara A Hutten, Joep C Defesche
  • Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome
    Paul Kruszka, Dong Li, Margaret H Harr, Nathan R Wilson, Daniel Swarr, Elizabeth M McCormick, Rosetta M Chiavacci, Mindy Li, Ariel F Martinez, Rachel A Hart, Donna M McDonald-McGinn, Matthew A Deardorff, Marni J Falk, Judith E Allanson, Cindy Hudson, John P Johnson, Irfan Saadi, Hakon Hakonarson, Maximilian Muenke, Elaine H Zackai

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