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There are 3516 results for: content related to: Analysis of the Novel Fanconi Anemia Gene SLX4 / FANCP in Familial Breast Cancer Cases

  1. You have full text access to this OnlineOpen article
    A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

    Human Mutation

    Volume 34, Issue 2, February 2013, Pages: 363–373, Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove, Jessie Theuns, Sebastiaan Engelborghs, Stéphanie Philtjens, Mathieu Vandenbulcke, Kristel Sleegers, Anne Sieben, Veerle Bäumer, Githa Maes, Ellen Corsmit, Barbara Borroni, Alessandro Padovani, Silvana Archetti, Robert Perneczky, Janine Diehl-Schmid, Alexandre de Mendonça, Gabriel Miltenberger-Miltenyi, Sónia Pereira, José Pimentel, Benedetta Nacmias, Silvia Bagnoli, Sandro Sorbi, Caroline Graff, Huei-Hsin Chiang, Marie Westerlund, Raquel Sanchez-Valle, Albert Llado, Ellen Gelpi, Isabel Santana, Maria Rosário Almeida, Beatriz Santiago, Giovanni Frisoni, Orazio Zanetti, Cristian Bonvicini, Matthis Synofzik, Walter Maetzler, Jennifer Müller vom Hagen, Ludger Schöls, Michael T. Heneka, Frank Jessen, Radoslav Matej, Eva Parobkova, Gabor G. Kovacs, Thomas Ströbel, Stayko Sarafov, Ivailo Tournev, Albena Jordanova, Adrian Danek, Thomas Arzberger, Gian Maria Fabrizi, Silvia Testi, Eric Salmon, Patrick Santens, Jean-Jacques Martin, Patrick Cras, Rik Vandenberghe, Peter Paul De Deyn, Marc Cruts, Christine Van Broeckhoven, Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove, Jessie Theuns, Stéphanie Philtjens, Kristel Sleegers, Veerle Bäumer, Githa Maes, Ellen Corsmit, Marc Cruts, Christine Van Broeckhoven, Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove, Stéphanie Philtjens, Jessie Theuns, Kristel Sleegers, Veerle Bäumer, Githa Maes, Marc Cruts, Christine Van Broeckhoven, Sebastiaan Engelborghs, Peter P. De Deyn, Patrick Cras, Sebastiaan Engelborghs, Peter P. De Deyn, Mathieu Vandenbulcke, Mathieu Vandenbulcke, Barbara Borroni, Alessandro Padovani, Silvana Archetti, Robert Perneczky, Janine Diehl-Schmid, Matthis Synofzik, Walter Maetzler, Jennifer Müller vom Hagen, Ludger Schöls, Matthis Synofzik, Walter Maetzler, Jennifer Müller vom Hagen, Ludger Schöls, Michael T. Heneka, Frank Jessen, Alfredo Ramirez, Delia Kurzwelly, Carmen Sachtleben, Wolfgang Mairer, Alexandre de Mendonça, Gabriel Miltenberger-Miltenyi, Sónia Pereira, Clara Firmo, José Pimentel, Raquel Sanchez-Valle, Albert Llado, Anna Antonell, Jose Molinuevo , Ellen Gelpi, Caroline Graff, Huei-Hsin Chiang, Marie Westerlund, Caroline Graff, Anne Kinhult Ståhlbom, Håkan Thonberg, Inger Nennesmo, Anne Börjesson-Hanson, Benedetta Nacmias, Silvia Bagnoli, Sandro Sorbi, Valentina Bessi, Irene Piaceri, Isabel Santana, Beatriz Santiago, Isabel Santana, Maria Helena Ribeiro, Maria Rosário Almeida, Catarina Oliveira, João Massano, Carolina Garret, Paula Pires, Giovanni Frisoni, Orazio Zanetti, Cristian Bonvicini, Stayko Sarafov, Ivailo Tournev, Albena Jordanova, Ivailo Tournev, Gabor G. Kovacs, Thomas Ströbel, Michael T. Heneka, Frank Jessen, Alfredo Ramirez, Delia Kurzwelly, Carmen Sachtleben, Wolfgang Mairer;, Frank Jessen, Radoslav Matej, Eva Parobkova, Adrian Danel, Thomas Arzberger, Gian Maria Fabrizi, Silvia Testi, Sergio Ferrari, Tiziana Cavallaro, Eric Salmon, Patrick Santens, Patrick Cras and on behalf of the European Early-Onset Dementia (EOD) Consortium

    Version of Record online : 4 JAN 2013, DOI: 10.1002/humu.22244

  2. Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

    Human Mutation

    Volume 36, Issue 8, August 2015, Pages: 743–752, Lamisse Mansour-Hendili, Anne Blanchard, Nelly Le Pottier, Isabelle Roncelin, Stéphane Lourdel, Cyrielle Treard, Wendy González, Ariela Vergara-Jaque, Gilles Morin, Estelle Colin, Muriel Holder-Espinasse, Justine Bacchetta, Véronique Baudouin, Stéphane Benoit, Etienne Bérard, Guylhène Bourdat-Michel, Karim Bouchireb, Stéphane Burtey, Mathilde Cailliez, Gérard Cardon, Claire Cartery, Gerard Champion, Dominique Chauveau, Pierre Cochat, Karin Dahan, Renaud De la Faille, François-Guillaume Debray, Laurenne Dehoux, Georges Deschenes, Estelle Desport, Olivier Devuyst, Stella Dieguez, Francesco Emma, Michel Fischbach, Denis Fouque, Jacques Fourcade, Hélène François, Brigitte Gilbert-Dussardier, Thierry Hannedouche, Pascal Houillier, Hassan Izzedine, Marco Janner, Alexandre Karras, Bertrand Knebelmann, Marie-Pierre Lavocat, Sandrine Lemoine, Valérie Leroy, Chantal Loirat, Marie-Alice Macher, Dominique Martin-Coignard, Denis Morin, Patrick Niaudet, Hubert Nivet, François Nobili, Robert Novo, Laurence Faivre, Claire Rigothier, Gwenaëlle Roussey-Kesler, Remi Salomon, Andreas Schleich, Anne-Laure Sellier-Leclerc, Kenza Soulami, Aurélien Tiple, Tim Ulinski, Philippe Vanhille, Nicole Van Regemorter, Xavier Jeunemaître and Rosa Vargas-Poussou

    Version of Record online : 11 JUN 2015, DOI: 10.1002/humu.22804

  3. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

    Human Mutation

    Volume 37, Issue 9, September 2016, Pages: 847–864, Nina Bögershausen, Vincent Gatinois, Vera Riehmer, Hülya Kayserili, Jutta Becker, Michaela Thoenes, Pelin Özlem Simsek-Kiper, Mouna Barat-Houari, Nursel H. Elcioglu, Dagmar Wieczorek, Sigrid Tinschert, Guillaume Sarrabay, Tim M. Strom, Aurélie Fabre, Gareth Baynam, Elodie Sanchez, Gudrun Nürnberg, Umut Altunoglu, Yline Capri, Bertrand Isidor, Didier Lacombe, Carole Corsini, Valérie Cormier-Daire, Damien Sanlaville, Fabienne Giuliano, Kim-Hanh Le Quan Sang, Honorine Kayirangwa, Peter Nürnberg, Thomas Meitinger, Koray Boduroglu, Barbara Zoll, Stanislas Lyonnet, Andreas Tzschach, Alain Verloes, Nataliya Di Donato, Isabelle Touitou, Christian Netzer, Yun Li, David Geneviève, Gökhan Yigit and Bernd Wollnik

    Version of Record online : 7 JUL 2016, DOI: 10.1002/humu.23026

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    High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

    Human Mutation

    Volume 36, Issue 11, November 2015, Pages: 1052–1063, Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, Meagan Cochran, Mary-Alice Abbott, Joan Atkin, Dusica Babovic-Vuksanovic, Christopher P. Barnett, Melissa Crenshaw, Dennis W. Bartholomew, Lina Basel, Gary Bellus, Shay Ben-Shachar, Martin G. Bialer, David Bick, Bruce Blumberg, Fanny Cortes, Karen L. David, Anne Destree, Anna Duat-Rodriguez, Dawn Earl, Luis Escobar, Marthanda Eswara, Begona Ezquieta, Ian M. Frayling, Moshe Frydman, Kathy Gardner, Karen W. Gripp, Concepcion Hernández-Chico, Kurt Heyrman, Jennifer Ibrahim, Sandra Janssens, Beth A Keena, Isabel Llano-Rivas, Kathy Leppig, Marie McDonald, Vinod K. Misra, Jennifer Mulbury, Vinodh Narayanan, Naama Orenstein, Patricia Galvin-Parton, Helio Pedro, Eniko K. Pivnick, Cynthia M. Powell, Linda Randolph, Salmo Raskin, Jordi Rosell, Karol Rubin, Margretta Seashore, Christian P. Schaaf, Angela Scheuerle, Meredith Schultz, Elizabeth Schorry, Rhonda Schnur, Elizabeth Siqveland, Amanda Tkachuk, James Tonsgard, Meena Upadhyaya, Ishwar C. Verma, Stephanie Wallace, Charles Williams, Elaine Zackai, Jonathan Zonana, Conxi Lazaro, Kathleen Claes, Bruce Korf, Yolanda Martin, Eric Legius and Ludwine Messiaen

    Version of Record online : 21 AUG 2015, DOI: 10.1002/humu.22832

  5. De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

    Human Mutation

    Volume 36, Issue 4, April 2015, Pages: 454–462, María Concepción Gil-Rodríguez, Matthew A. Deardorff, Morad Ansari, Christopher A. Tan, Ilaria Parenti, Carolina Baquero-Montoya, Lilian B. Ousager, Beatriz Puisac, María Hernández-Marcos, María Esperanza Teresa-Rodrigo, Iñigo Marcos-Alcalde, Jan-Jaap Wesselink, Silvia Lusa-Bernal, Emilia K. Bijlsma, Diana Braunholz, Inés Bueno-Martinez, Dinah Clark, Nicola S. Cooper, Cynthia J. Curry, Richard Fisher, Alan Fryer, Jaya Ganesh, Cristina Gervasini, Gabriele Gillessen-Kaesbach, Yiran Guo, Hakon Hakonarson, Robert J. Hopkin, Maninder Kaur, Brendan J. Keating, María Kibaek, Esther Kinning, Tjitske Kleefstra, Antonie D. Kline, Ekaterina Kuchinskaya, Lidia Larizza, Yun R. Li, Xuanzhu Liu, Milena Mariani, Jonathan D. Picker, Ángeles Pié, Jelena Pozojevic, Ethel Queralt, Julie Richer, Elizabeth Roeder, Anubha Sinha, Richard H. Scott, Joyce So, Katherine A. Wusik, Louise Wilson, Jianguo Zhang, Paulino Gómez-Puertas, César H. Casale, Lena Ström, Angelo Selicorni, Feliciano J. Ramos, Laird G. Jackson, Ian D. Krantz, Soma Das, Raoul C.M. Hennekam, Frank J. Kaiser, David R. FitzPatrick and Juan Pié

    Version of Record online : 17 MAR 2015, DOI: 10.1002/humu.22761

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    Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

    Human Mutation

    Volume 35, Issue 8, August 2014, Pages: 1021–1032, Kaye N. Ballantyne, Arwin Ralf, Rachid Aboukhalid, Niaz M. Achakzai, Maria J. Anjos, Qasim Ayub, Jože Balažic, Jack Ballantyne, David J. Ballard, Burkhard Berger, Cecilia Bobillo, Mehdi Bouabdellah, Helen Burri, Tomas Capal, Stefano Caratti, Jorge Cárdenas, François Cartault, Elizeu F. Carvalho, Monica Carvalho, Baowen Cheng, Michael D. Coble, David Comas, Daniel Corach, Maria E. D'Amato, Sean Davison, Peter de Knijff, Maria Corazon A. De Ungria, Ronny Decorte, Tadeusz Dobosz, Berit M. Dupuy, Samir Elmrghni, Mateusz Gliwiński, Sara C. Gomes, Laurens Grol, Cordula Haas, Erin Hanson, Jürgen Henke, Lotte Henke, Fabiola Herrera-Rodríguez, Carolyn R. Hill, Gunilla Holmlund, Katsuya Honda, Uta-Dorothee Immel, Shota Inokuchi, Mark A. Jobling, Mahmoud Kaddura, Jong S. Kim, Soon H. Kim, Wook Kim, Turi E. King, Eva Klausriegler, Daniel Kling, Lejla Kovačević, Leda Kovatsi, Paweł Krajewski, Sergey Kravchenko, Maarten H. D. Larmuseau, Eun Young Lee, Ruediger Lessig, Ludmila A. Livshits, Damir Marjanović, Marek Minarik, Natsuko Mizuno, Helena Moreira, Niels Morling, Meeta Mukherjee, Patrick Munier, Javaregowda Nagaraju, Franz Neuhuber, Shengjie Nie, Premlaphat Nilasitsataporn, Takeki Nishi, Hye H. Oh, Jill Olofsson, Valerio Onofri, Jukka U. Palo, Horolma Pamjav, Walther Parson, Michal Petlach, Christopher Phillips, Rafal Ploski, Samayamantri P. R. Prasad, Dragan Primorac, Gludhug A. Purnomo, Josephine Purps, Hector Rangel-Villalobos, Krzysztof Rębała, Budsaba Rerkamnuaychoke, Danel Rey Gonzalez, Carlo Robino, Lutz Roewer, Alexandra Rosa, Antti Sajantila, Andrea Sala, Jazelyn M. Salvador, Paula Sanz, Cornelia Schmitt, Anil K. Sharma, Dayse A. Silva, Kyoung-Jin Shin, Titia Sijen, Miriam Sirker, Daniela Siváková, Vedrana Škaro, Carlos Solano-Matamoros, Luis Souto, Vlastimil Stenzl, Herawati Sudoyo, Denise Syndercombe-Court, Adriano Tagliabracci, Duncan Taylor, Andreas Tillmar, Iosif S. Tsybovsky, Chris Tyler-Smith, Kristiaan J. van der Gaag, Daniel Vanek, Antónia Völgyi, Denise Ward, Patricia Willemse, Eric P.H. Yap, Rita Y.Y. Yong, Irena Zupanič Pajnič and Manfred Kayser

    Version of Record online : 14 JUL 2014, DOI: 10.1002/humu.22599

  7. Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 801–811, Partha Sen, Yaping Yang, Colby Navarro, Iris Silva, Przemyslaw Szafranski, Katarzyna E. Kolodziejska, Avinash V. Dharmadhikari, Hasnaa Mostafa, Harry Kozakewich, Debra Kearney, John B. Cahill, Merrissa Whitt, Masha Bilic, Linda Margraf, Adrian Charles, Jack Goldblatt, Kathleen Gibson, Patrick E. Lantz, A. Julian Garvin, John Petty, Zeina Kiblawi, Craig Zuppan, Allyn McConkie-Rosell, Marie T. McDonald, Stacey L. Peterson-Carmichael, Jane T. Gaede, Binoy Shivanna, Deborah Schady, Philippe S. Friedlich, Stephen R. Hays, Irene Valenzuela Palafoll, Ulrike Siebers-Renelt, Axel Bohring, Laura S. Finn, Joseph R. Siebert, Csaba Galambos, Lananh Nguyen, Melissa Riley, Nicolas Chassaing, Adeline Vigouroux, Gustavo Rocha, Susana Fernandes, Jane Brumbaugh, Kari Roberts, Luk Ho-ming, Ivan F. M. Lo, Stephen Lam, Romana Gerychova, Marta Jezova, Iveta Valaskova, Florence Fellmann, Katayoun Afshar, Eric Giannoni, Vincent Muhlethaler, Jinlong Liang, Jacques S. Beckmann, Janet Lioy, Hitesh Deshmukh, Lakshmi Srinivasan, Daniel T. Swarr, Melissa Sloman, Charles Shaw-Smith, Rosa Laura van Loon, Cecilia Hagman, Yves Sznajer, Catherine Barrea, Christine Galant, Thierry Detaille, Jennifer A. Wambach, F. Sessions Cole, Aaron Hamvas, Lawrence S. Prince, Karin E.M. Diderich, Alice S. Brooks, Robert M. Verdijk, Hari Ravindranathan, Ella Sugo, David Mowat, Michael L. Baker, Claire Langston, Stephen Welty and Pawel Stankiewicz

    Version of Record online : 12 APR 2013, DOI: 10.1002/humu.22313

  8. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

    Human Mutation

    Volume 37, Issue 7, July 2016, Pages: 653–660, Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen, Erik A. Eklund, Kimiyo Raymond, Martin Kircher, Jose E. Abdenur, Fusun Alehan, Alina T. Midro, Michael J. Bamshad, Rita Barone, Gerard T. Berry, Jane E. Brumbaugh, Kati J. Buckingham, Katie Clarkson, F. Sessions Cole, Shawn O'Connor, Gregory M. Cooper, Rudy Van Coster, Laurie A. Demmer, Luisa Diogo, Alexander J. Fay, Can Ficicioglu, Agata Fiumara, William A. Gahl, Rebecca Ganetzky, Himanshu Goel, Lyndsay A. Harshman, Miao He, Jaak Jaeken, Philip M. James, Daniel Katz, Liesbeth Keldermans, Maria Kibaek, Andrew J. Kornberg, Katherine Lachlan, Christina Lam, Joy Yaplito-Lee, Deborah A. Nickerson, Heidi L. Peters, Valerie Race, Luc Régal, Jeffrey S. Rush, S. Lane Rutledge, Jay Shendure, Erika Souche, Susan E. Sparks, Pamela Trapane, Amarilis Sanchez-Valle, Eric Vilain, Arve Vøllo, Charles J. Waechter, Raymond Y. Wang, Lynne A. Wolfe, Derek A. Wong, Tim Wood, Amy C. Yang, University of Washington Center for Mendelian Genomics, Gert Matthijs and Hudson H. Freeze

    Version of Record online : 21 MAR 2016, DOI: 10.1002/humu.22983

  9. Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 779–790, Minttu Marttila, Vilma-Lotta Lehtokari, Steven Marston, Tuula A. Nyman, Christine Barnerias, Alan H. Beggs, Enrico Bertini, Özge Ceyhan-Birsoy, Pascal Cintas, Marion Gerard, Brigitte Gilbert-Dussardier, Jacob S. Hogue, Cheryl Longman, Bruno Eymard, Moshe Frydman, Peter B. Kang, Lars Klinge, Hanna Kolski, Hans Lochmüller, Laurent Magy, Véronique Manel, Michèle Mayer, Eugenio Mercuri, Kathryn N. North, Sylviane Peudenier-Robert, Helena Pihko, Frank J. Probst, Ricardo Reisin, Willie Stewart, Ana Lia Taratuto, Marianne de Visser, Ekkehard Wilichowski, John Winer, Kristen Nowak, Nigel G. Laing, Tom L. Winder, Nicole Monnier, Nigel F. Clarke, Katarina Pelin, Mikaela Grönholm and Carina Wallgren-Pettersson

    Version of Record online : 1 MAY 2014, DOI: 10.1002/humu.22554

  10. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

    Human Mutation

    Volume 37, Issue 2, February 2016, Pages: 148–154, Lijia Huang, Megan R. Vanstone, Taila Hartley, Matthew Osmond, Nick Barrowman, Judith Allanson, Laura Baker, Tabib A. Dabir, Katrina M. Dipple, William B. Dobyns, Jane Estrella, Hanna Faghfoury, Francine P. Favaro, Himanshu Goel, Pernille A. Gregersen, Karen W. Gripp, Art Grix, Maria-Leine Guion-Almeida, Margaret H. Harr, Cindy Hudson, Alasdair G.W. Hunter, John Johnson, Shelagh K. Joss, Amy Kimball, Usha Kini, Antonie D. Kline, Julie Lauzon, Dorte L. Lildballe, Vanesa López-González, Johanna Martinezmoles, Cliff Meldrum, Ghayda M. Mirzaa, Chantal F. Morel, Jenny E.V. Morton, Louise C. Pyle, Fabiola Quintero-Rivera, Julie Richer, Angela E. Scheuerle, Bitten Schönewolf-Greulich, Deborah J. Shears, Josh Silver, Amanda C. Smith, I. Karen Temple, UCLA Clinical Genomics Center, Jiddeke M. van de Kamp, Fleur S. van Dijk, Anthony M. Vandersteen, Sue M. White, Elaine H. Zackai, Ruobing Zou, Care4Rare Canada Consortium, Dennis E. Bulman, Kym M. Boycott and Matthew A. Lines

    Version of Record online : 19 NOV 2015, DOI: 10.1002/humu.22924

  11. Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (MYH7) Distal Myopathy

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 868–879, Phillipa J. Lamont, William Wallefeld, David Hilton-Jones, Bjarne Udd, Zohar Argov, Alexandru C. Barboi, Carsten Bonneman, Kym M. Boycott, Kate Bushby, Anne M. Connolly, Nicholas Davies, Alan H. Beggs, Gerald F. Cox, Jahannaz Dastgir, Elizabeth T. DeChene, Rebecca Gooding, Heinz Jungbluth, Nuria Muelas, Johanna Palmio, Sini Penttilä, Eric Schmedding, Tiina Suominen, Volker Straub, Christopher Staples, Peter Y.K. Van den Bergh, Juan J. Vilchez, Kathryn R. Wagner, Patricia G. Wheeler, Elizabeth Wraige and Nigel G. Laing

    Version of Record online : 21 MAY 2014, DOI: 10.1002/humu.22553

  12. You have full text access to this OnlineOpen article
    Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

    Human Mutation

    Volume 35, Issue 1, January 2014, Pages: 76–85, Jennie E. Murray, Louise S. Bicknell, Gökhan Yigit, Angela L. Duker, Margriet van Kogelenberg, Sara Haghayegh, Dagmar Wieczorek, Hülya Kayserili, Michael H. Albert, Carol A. Wise, January Brandon, Tjitske Kleefstra, Adilia Warris, Michiel van der Flier, J. Steven Bamforth, Kurston Doonanco, Lesley Adès, Alan Ma, Michael Field, Diana Johnson, Fiona Shackley, Helen Firth, C. Geoffrey Woods, Peter Nürnberg, Richard A. Gatti, Matthew Hurles, Michael B. Bober, Bernd Wollnik and Andrew P. Jackson

    Version of Record online : 8 NOV 2013, DOI: 10.1002/humu.22461

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    MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype–Phenotype Correlations

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 236–247, Alessandro Pecci, Catherine Klersy, Paolo Gresele, Kieran J.D. Lee, Daniela De Rocco, Valeria Bozzi, Giovanna Russo, Paula G. Heller, Giuseppe Loffredo, Matthias Ballmaier, Fabrizio Fabris, Eloise Beggiato, Walter H.A. Kahr, Nuria Pujol-Moix, Helen Platokouki, Christel Van Geet, Patrizia Noris, Preethi Yerram, Cedric Hermans, Bernhard Gerber, Marina Economou, Marco De Groot, Barbara Zieger, Erica De Candia, Vincenzo Fraticelli, Rogier Kersseboom, Giorgina B. Piccoli, Stefanie Zimmermann, Tiziana Fierro, Ana C. Glembotsky, Fabrizio Vianello, Carlo Zaninetti, Elena Nicchia, Christiane Güthner, Carlo Baronci, Marco Seri, Peter J. Knight, Carlo L. Balduini and Anna Savoia

    Version of Record online : 12 DEC 2013, DOI: 10.1002/humu.22476

  14. You have full text access to this OnlineOpen article
    Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

    Human Mutation

    Volume 34, Issue 8, August 2013, Pages: 1160–1171, Elisa Giorgio, Harshvardhan Rolyan, Laura Kropp, Anish Baswanth Chakka, Svetlana Yatsenko, Eleonora Di Gregorio, Daniela Lacerenza, Giovanna Vaula, Flavia Talarico, Paola Mandich, Camilo Toro, Eleonore Eymard Pierre, Pierre Labauge, Sabina Capellari, Pietro Cortelli, Filippo Pinto Vairo, Diego Miguel, Danielle Stubbolo, Lourenco Charles Marques, William Gahl, Odile Boespflug-Tanguy, Atle Melberg, Sharon Hassin-Baer, Oren S. Cohen, Rastislav Pjontek, Armin Grau, Thomas Klopstock, Brent Fogel, Inge Meijer, Guy Rouleau, Jean-Pierre L. Bouchard, Madhavi Ganapathiraju, Adeline Vanderver, Niklas Dahl, Grace Hobson, Alfredo Brusco, Alessandro Brussino and Quasar Saleem Padiath

    Version of Record online : 28 MAY 2013, DOI: 10.1002/humu.22348

  15. Variants in CUL4B are Associated with Cerebral Malformations

    Human Mutation

    Volume 36, Issue 1, January 2015, Pages: 106–117, Anneke T. Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi-Buisson, Stefan A. Haas, Hao Hu, Melanie Bienek, Lisenka E.L.M. Vissers, Christian Gilissen, Andreas Tzschach, Andreas Busche, Jörg Müsebeck, Patrick Rump, Inge B. Mathijssen, Kristiina Avela, Mirja Somer, Fatma Doagu, Anju K. Philips, Anita Rauch, Alessandra Baumer, Krysta Voesenek, Karine Poirier, Jacqueline Vigneron, Daniel Amram, Sylvie Odent, Magdalena Nawara, Ewa Obersztyn, Jacek Lenart, Agnieszka Charzewska, Nicolas Lebrun, Ute Fischer, Willy M. Nillesen, Helger G. Yntema, Irma Järvelä, Hans-Hilger Ropers, Bert B.A. de Vries, Han G. Brunner, Hans van Bokhoven, F. Lucy Raymond, Michèl A.A.P. Willemsen, Jamel Chelly, Yue Xiong, A. James Barkovich, Vera M. Kalscheuer, Tjitske Kleefstra and Arjan P.M. de Brouwer

    Version of Record online : 30 DEC 2014, DOI: 10.1002/humu.22718

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    The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

    Human Mutation

    Volume 36, Issue 4, April 2015, Pages: 395–402, Catherine L. Bladen, David Salgado, Soledad Monges, Maria E. Foncuberta, Kyriaki Kekou, Konstantina Kosma, Hugh Dawkins, Leanne Lamont, Anna J. Roy, Teodora Chamova, Velina Guergueltcheva, Sophelia Chan, Lawrence Korngut, Craig Campbell, Yi Dai, Jen Wang, Nina Barišić, Petr Brabec, Jaana Lahdetie, Maggie C. Walter, Olivia Schreiber-Katz, Veronika Karcagi, Marta Garami, Venkatarman Viswanathan, Farhad Bayat, Filippo Buccella, En Kimura, Zaïda Koeks, Janneke C. van den Bergen, Miriam Rodrigues, Richard Roxburgh, Anna Lusakowska, Anna Kostera-Pruszczyk, Janusz Zimowski, Rosário Santos, Elena Neagu, Svetlana Artemieva, Vedrana Milic Rasic, Dina Vojinovic, Manuel Posada, Clemens Bloetzer, Pierre-Yves Jeannet, Franziska Joncourt, Jordi Díaz-Manera, Eduard Gallardo, A. Ayşe Karaduman, Haluk Topaloğlu, Rasha El Sherif, Angela Stringer, Andriy V. Shatillo, Ann S. Martin, Holly L. Peay, Matthew I. Bellgard, Jan Kirschner, Kevin M. Flanigan, Volker Straub, Kate Bushby, Jan Verschuuren, Annemieke Aartsma-Rus, Christophe Béroud and Hanns Lochmüller

    Version of Record online : 17 MAR 2015, DOI: 10.1002/humu.22758

  17. RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1632–1641, Nicole Revencu, Laurence M. Boon, Antonella Mendola, Maria Rosa Cordisco, Josée Dubois, Philippe Clapuyt, Frank Hammer, David J. Amor, Alan D. Irvine, Eulalia Baselga, Anne Dompmartin, Samira Syed, Ana Martin-Santiago, Lesley Ades, Felicity Collins, Janine Smith, Sarah Sandaradura, Victoria R. Barrio, Patricia E. Burrows, Francine Blei, Mariarosaria Cozzolino, Nicola Brunetti-Pierri, Asuncion Vicente, Marc Abramowicz, Julie Désir, Catheline Vilain, Wendy K. Chung, Ashley Wilson, Carol A. Gardiner, Yim Dwight, David J.E. Lord, Leona Fishman, Cheryl Cytrynbaum, Sarah Chamlin, Fred Ghali, Yolanda Gilaberte, Shelagh Joss, Maria del C. Boente, Christine Léauté-Labrèze, Marie-Ange Delrue, Susan Bayliss, Loreto Martorell, Maria-Antonia González-Enseñat, Juliette Mazereeuw-Hautier, Brid O'Donnell, Didier Bessis, Reed E. Pyeritz, Aicha Salhi, Oon T. Tan, Orli Wargon, John B. Mulliken and Miikka Vikkula

    Version of Record online : 10 OCT 2013, DOI: 10.1002/humu.22431

  18. Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum

    Human Mutation

    Volume 35, Issue 5, May 2014, Pages: 521–531, Maja Sukalo, Ariane Fiedler, Celina Guzmán, Stephanie Spranger, Marie-Claude Addor, Jiad N. Mcheik, Manuel Oltra Benavent, Jan M. Cobben, Lynette A. Gillis, Amy G. Shealy, Charu Deshpande, Bita Bozorgmehr, David B. Everman, Eva-Lena Stattin, Jan Liebelt, Klaus-Michael Keller, Débora Romeo Bertola, Clara D.M. van Karnebeek, Carsten Bergmann, Zhifeng Liu, Gesche Düker, Nima Rezaei, Fowzan S. Alkuraya, Gönül Oğur, Abdullah Alrajoudi, Carlos A. Venegas-Vega, Nienke E. Verbeek, Erick J. Richmond, Özgür Kirbiyik, Prajnya Ranganath, Ankur Singh, Koumudi Godbole, Fouad A. M. Ali, Crésio Alves, Julia Mayerle, Markus M. Lerch, Heiko Witt and Martin Zenker

    Version of Record online : 9 APR 2014, DOI: 10.1002/humu.22538

  19. Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects

    Human Mutation

    Volume 36, Issue 12, December 2015, Pages: 1113–1127, Rajiv D. Machado, Laura Southgate, Christina A. Eichstaedt, Micheala A. Aldred, Eric D. Austin, D. Hunter Best, Wendy K. Chung, Nicola Benjamin, C. Gregory Elliott, Mélanie Eyries, Christine Fischer, Stefan Gräf, Katrin Hinderhofer, Marc Humbert, Steven B. Keiles, James E. Loyd, Nicholas W. Morrell, John H. Newman, Florent Soubrier, Richard C. Trembath, Rebecca Rodríguez Viales and Ekkehard Grünig

    Version of Record online : 12 OCT 2015, DOI: 10.1002/humu.22904

  20. You have full text access to this OnlineOpen article
    Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort

    Human Mutation

    Volume 36, Issue 12, December 2015, Pages: 1226–1235, Rita Cacace, Tobi Van den Bossche, Sebastiaan Engelborghs, Nathalie Geerts, Annelies Laureys, Lubina Dillen, Caroline Graff, Håkan Thonberg, Huei-Hsin Chiang, Pau Pastor, Sara Ortega-Cubero, Maria A. Pastor, Janine Diehl-Schmid, Panagiotis Alexopoulos, Luisa Benussi, Roberta Ghidoni, Giuliano Binetti, Benedetta Nacmias, Sandro Sorbi, Raquel Sanchez-Valle, Albert Lladó, Ellen Gelpi, Maria Rosário Almeida, Isabel Santana, Magda Tsolaki, Maria Koutroumani, Jordi Clarimon, Alberto Lleó, Juan Fortea, Alexandre de Mendonça, Madalena Martins, Barbara Borroni, Alessandro Padovani, Radoslav Matej, Zdenek Rohan, Mathieu Vandenbulcke, Rik Vandenberghe, Peter P. De Deyn, Patrick Cras, Julie van der Zee, Kristel Sleegers, Christine Van Broeckhoven and on behalf of the Belgium Neurology (BELNEU) Consortium and the European Early-Onset Dementia (EU EOD) Consortium

    Version of Record online : 14 OCT 2015, DOI: 10.1002/humu.22908