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Volume 101(5);  2017 Nov 2

Articles from this journal are generally available in PMC after a 6-month delay (embargo); however, the delay may vary at the discretion of the publisher.

Articles

Michael D. Gallagher, Marijan Posavi, Peng Huang, Travis L. Unger, Yosef Berlyand, Analise L. Gruenewald, Alessandra Chesi, Elisabetta Manduchi, Andrew D. Wells, Struan F.A. Grant, Gerd A. Blobel, Christopher D. Brown, Alice S. Chen-Plotkin
Am J Hum Genet. 2017 Nov 2; 101(5): 643–663. Published online 2017 Oct 19. doi: 10.1016/j.ajhg.2017.09.004
PMCID:
PMC5673619
Fadi F. Hamdan, Candace T. Myers, Patrick Cossette, Philippe Lemay, Dan Spiegelman, Alexandre Dionne Laporte, Christina Nassif, Ousmane Diallo, Jean Monlong, Maxime Cadieux-Dion, Sylvia Dobrzeniecka, Caroline Meloche, Kyle Retterer, Megan T. Cho, Jill A. Rosenfeld, Weimin Bi, Christine Massicotte, Marguerite Miguet, Ledia Brunga, Brigid M. Regan, Kelly Mo, Cory Tam, Amy Schneider, Georgie Hollingsworth, Deciphering Developmental Disorders Study, David R. FitzPatrick, Alan Donaldson, Natalie Canham, Edward Blair, Bronwyn Kerr, Andrew E. Fry, Rhys H. Thomas, Joss Shelagh, Jane A. Hurst, Helen Brittain, Moira Blyth, Robert Roger Lebel, Erica H. Gerkes, Laura Davis-Keppen, Quinn Stein, Wendy K. Chung, Sara J. Dorison, Paul J. Benke, Emily Fassi, Nicole Corsten-Janssen, Erik-Jan Kamsteeg, Frederic T. Mau-Them, Ange-Line Bruel, Alain Verloes, Katrin Õunap, Monica H. Wojcik, Dara V.F. Albert, Sunita Venkateswaran, Tyson Ware, Dean Jones, Yu-Chi Liu, Shekeeb S. Mohammad, Peyman Bizargity, Carlos A. Bacino, Vincenzo Leuzzi, Simone Martinelli, Bruno Dallapiccola, Marco Tartaglia, Lubov Blumkin, Klaas J. Wierenga, Gabriela Purcarin, James J. O’Byrne, Sylvia Stockler, Anna Lehman, Boris Keren, Marie-Christine Nougues, Cyril Mignot, Stéphane Auvin, Caroline Nava, Susan M. Hiatt, Martina Bebin, Yunru Shao, Fernando Scaglia, Seema R. Lalani, Richard E. Frye, Imad T. Jarjour, Stéphanie Jacques, Renee-Myriam Boucher, Emilie Riou, Myriam Srour, Lionel Carmant, Anne Lortie, Philippe Major, Paola Diadori, François Dubeau, Guy D’Anjou, Guillaume Bourque, Samuel F. Berkovic, Lynette G. Sadleir, Philippe M. Campeau, Zoha Kibar, Ronald G. Lafrenière, Simon L. Girard, Saadet Mercimek-Mahmutoglu, Cyrus Boelman, Guy A. Rouleau, Ingrid E. Scheffer, Heather C. Mefford, Danielle M. Andrade, Elsa Rossignol, Berge A. Minassian, Jacques L. Michaud
Am J Hum Genet. 2017 Nov 2; 101(5): 664–685. Published online 2017 Nov 2. doi: 10.1016/j.ajhg.2017.09.008
PMCID:
PMC5673604
Diego Calderon, Anand Bhaskar, David A. Knowles, David Golan, Towfique Raj, Audrey Q. Fu, Jonathan K. Pritchard
Am J Hum Genet. 2017 Nov 2; 101(5): 686–699. Published online 2017 Oct 26. doi: 10.1016/j.ajhg.2017.09.009
PMCID:
PMC5673624
Haibao Tang, Ewen F. Kirkness, Christoph Lippert, William H. Biggs, Martin Fabani, Ernesto Guzman, Smriti Ramakrishnan, Victor Lavrenko, Boyko Kakaradov, Claire Hou, Barry Hicks, David Heckerman, Franz J. Och, C. Thomas Caskey, J. Craig Venter, Amalio Telenti
Am J Hum Genet. 2017 Nov 2; 101(5): 700–715. Published online 2017 Nov 2. doi: 10.1016/j.ajhg.2017.09.013
PMCID:
PMC5673627
Davor Lessel, Claudia Schob, Sébastien Küry, Margot R.F. Reinders, Tamar Harel, Mohammad K. Eldomery, Zeynep Coban-Akdemir, Jonas Denecke, Shimon Edvardson, Estelle Colin, Alexander P.A. Stegmann, Erica H. Gerkes, Marine Tessarech, Dominique Bonneau, Magalie Barth, Thomas Besnard, Benjamin Cogné, Anya Revah-Politi, Tim M. Strom, Jill A. Rosenfeld, Yaping Yang, Jennifer E. Posey, LaDonna Immken, Nelly Oundjian, Katherine L. Helbig, Naomi Meeks, Kelsey Zegar, Jenny Morton, the DDD study, Jolanda H. Schieving, Ana Claasen, Matthew Huentelman, Vinodh Narayanan, Keri Ramsey, C4RCD Research Group, Han G. Brunner, Orly Elpeleg, Sandra Mercier, Stéphane Bézieau, Christian Kubisch, Tjitske Kleefstra, Stefan Kindler, James R. Lupski, Hans-Jürgen Kreienkamp
Am J Hum Genet. 2017 Nov 2; 101(5): 716–724. Published online 2017 Nov 2. doi: 10.1016/j.ajhg.2017.09.014
PMCID:
PMC5673606
Cesar Fortes-Lima, Antoine Gessain, Andres Ruiz-Linares, Maria-Cátira Bortolini, Florence Migot-Nabias, Gil Bellis, J. Víctor Moreno-Mayar, Berta Nelly Restrepo, Winston Rojas, Efren Avendaño-Tamayo, Gabriel Bedoya, Ludovic Orlando, Antonio Salas, Agnar Helgason, M. Thomas P. Gilbert, Martin Sikora, Hannes Schroeder, Jean-Michel Dugoujon
Am J Hum Genet. 2017 Nov 2; 101(5): 725–736. Published online 2017 Nov 2. doi: 10.1016/j.ajhg.2017.09.021
PMCID:
PMC5673667
Huwenbo Shi, Nicholas Mancuso, Sarah Spendlove, Bogdan Pasaniuc
Am J Hum Genet. 2017 Nov 2; 101(5): 737–751. Published online 2017 Nov 2. doi: 10.1016/j.ajhg.2017.09.022
PMCID:
PMC5673668
Jacob E. Crawford, Ricardo Amaru, Jihyun Song, Colleen G. Julian, Fernando Racimo, Jade Yu Cheng, Xiuqing Guo, Jie Yao, Bharath Ambale-Venkatesh, João A. Lima, Jerome I. Rotter, Josef Stehlik, Lorna G. Moore, Josef T. Prchal, Rasmus Nielsen
Am J Hum Genet. 2017 Nov 2; 101(5): 752–767. Published online 2017 Nov 2. doi: 10.1016/j.ajhg.2017.09.023
PMCID:
PMC5673686
Sébastien Küry, Geeske M. van Woerden, Thomas Besnard, Martina Proietti Onori, Xénia Latypova, Meghan C. Towne, Megan T. Cho, Trine E. Prescott, Melissa A. Ploeg, Stephan Sanders, Holly A.F. Stessman, Aurora Pujol, Ben Distel, Laurie A. Robak, Jonathan A. Bernstein, Anne-Sophie Denommé-Pichon, Gaëtan Lesca, Elizabeth A. Sellars, Jonathan Berg, Wilfrid Carré, Øyvind Løvold Busk, Bregje W.M. van Bon, Jeff L. Waugh, Matthew Deardorff, George E. Hoganson, Katherine B. Bosanko, Diana S. Johnson, Tabib Dabir, Øystein Lunde Holla, Ajoy Sarkar, Kristian Tveten, Julitta de Bellescize, Geir J. Braathen, Paulien A. Terhal, Dorothy K. Grange, Arie van Haeringen, Christina Lam, Ghayda Mirzaa, Jennifer Burton, Elizabeth J. Bhoj, Jessica Douglas, Avni B. Santani, Addie I. Nesbitt, Katherine L. Helbig, Marisa V. Andrews, Amber Begtrup, Sha Tang, Koen L.I. van Gassen, Jane Juusola, Kimberly Foss, Gregory M. Enns, Ute Moog, Katrin Hinderhofer, Nagarajan Paramasivam, Sharyn Lincoln, Brandon H. Kusako, Pierre Lindenbaum, Eric Charpentier, Catherine B. Nowak, Elouan Cherot, Thomas Simonet, Claudia A.L. Ruivenkamp, Sihoun Hahn, Catherine A. Brownstein, Fan Xia, Sébastien Schmitt, Wallid Deb, Dominique Bonneau, Mathilde Nizon, Delphine Quinquis, Jamel Chelly, Gabrielle Rudolf, Damien Sanlaville, Philippe Parent, Brigitte Gilbert-Dussardier, Annick Toutain, Vernon R. Sutton, Jenny Thies, Lisenka E.L.M. Peart-Vissers, Pierre Boisseau, Marie Vincent, Andreas M. Grabrucker, Christèle Dubourg, Undiagnosed Diseases Network, Wen-Hann Tan, Nienke E. Verbeek, Martin Granzow, Gijs W.E. Santen, Jay Shendure, Bertrand Isidor, Laurent Pasquier, Richard Redon, Yaping Yang, Matthew W. State, Tjitske Kleefstra, Benjamin Cogné, GEM HUGO, Deciphering Developmental Disorders Study, Slavé Petrovski, Kyle Retterer, Evan E. Eichler, Jill A. Rosenfeld, Pankaj B. Agrawal, Stéphane Bézieau, Sylvie Odent, Ype Elgersma, Sandra Mercier
Am J Hum Genet. 2017 Nov 2; 101(5): 768–788. Published online 2017 Nov 2. doi: 10.1016/j.ajhg.2017.10.003
PMCID:
PMC5673671
Simone Sanna-Cherchi, Kamal Khan, Rik Westland, Priya Krithivasan, Lorraine Fievet, Hila Milo Rasouly, Iuliana Ionita-Laza, Valentina P. Capone, David A. Fasel, Krzysztof Kiryluk, Sitharthan Kamalakaran, Monica Bodria, Edgar A. Otto, Matthew G. Sampson, Christopher E. Gillies, Virginia Vega-Warner, Katarina Vukojevic, Igor Pediaditakis, Gabriel S. Makar, Adele Mitrotti, Miguel Verbitsky, Jeremiah Martino, Qingxue Liu, Young-Ji Na, Vinicio Goj, Gianluigi Ardissino, Maddalena Gigante, Loreto Gesualdo, Magdalena Janezcko, Marcin Zaniew, Cathy Lee Mendelsohn, Shirlee Shril, Friedhelm Hildebrandt, Joanna A.E. van Wijk, Adela Arapovic, Marijan Saraga, Landino Allegri, Claudia Izzi, Francesco Scolari, Velibor Tasic, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna-Materna Kiryluk, Shrikant Mane, David B. Goldstein, Richard P. Lifton, Nicholas Katsanis, Erica E. Davis, Ali G. Gharavi
Am J Hum Genet. 2017 Nov 2; 101(5): 789–802. Published online 2017 Nov 2. doi: 10.1016/j.ajhg.2017.09.018
PMCID:
PMC5673636

Reports

Lara De Tomasi, Pierre David, Camille Humbert, Flora Silbermann, Christelle Arrondel, Frédéric Tores, Stéphane Fouquet, Audrey Desgrange, Olivier Niel, Christine Bole-Feysot, Patrick Nitschké, Joëlle Roume, Marie-Pierre Cordier, Christine Pietrement, Bertrand Isidor, Philippe Khau Van Kien, Marie Gonzales, Marie-Hélène Saint-Frison, Jelena Martinovic, Robert Novo, Juliette Piard, Christelle Cabrol, Ishwar C. Verma, Ratna Puri, Hubert Journel, Jacqueline Aziza, Laurent Gavard, Marie-Hélène Said-Menthon, Laurence Heidet, Sophie Saunier, Cécile Jeanpierre
Am J Hum Genet. 2017 Nov 2; 101(5): 803–814. Published online 2017 Nov 2. doi: 10.1016/j.ajhg.2017.09.026
PMCID:
PMC5673669
Chae Syng Lee, He Fu, Nissan Baratang, Justine Rousseau, Heena Kumra, V. Reid Sutton, Marcello Niceta, Andrea Ciolfi, Guilherme Yamamoto, Débora Bertola, Carlo L. Marcelis, Dorien Lugtenberg, Andrea Bartuli, Choel Kim, Julie Hoover-Fong, Nara Sobreira, Richard Pauli, Carlos Bacino, Deborah Krakow, Jillian Parboosingh, Patrick Yap, Ariana Kariminejad, Marie T. McDonald, Mariana I. Aracena, Ekkehart Lausch, Sheila Unger, Andrea Superti-Furga, James T. Lu, Baylor-Hopkins Center for Mendelian Genomics, Dan H. Cohn, Marco Tartaglia, Brendan H. Lee, Dieter P. Reinhardt, Philippe M. Campeau
Am J Hum Genet. 2017 Nov 2; 101(5): 815–823. Published online 2017 Nov 2. doi: 10.1016/j.ajhg.2017.09.019
PMCID:
PMC5673654
Ideke J.C. Lamers, Margot R.F. Reijnders, Hanka Venselaar, Alison Kraus, DDD Study, Sandra Jansen, Bert B.A. de Vries, Gunnar Houge, Gyri Aasland Gradek, Jieun Seo, Murim Choi, Jong-Hee Chae, Ineke van der Burgt, Rolph Pfundt, Stef J.F. Letteboer, Sylvia E.C. van Beersum, Simone Dusseljee, Han G. Brunner, Dan Doherty, Tjitske Kleefstra, Ronald Roepman
Am J Hum Genet. 2017 Nov 2; 101(5): 824–832. Published online 2017 Oct 26. doi: 10.1016/j.ajhg.2017.09.015
PMCID:
PMC5673605
Nadja Ehmke, Luitgard Graul-Neumann, Lukasz Smorag, Rainer Koenig, Lara Segebrecht, Pilar Magoulas, Fernando Scaglia, Esra Kilic, Anna F. Hennig, Nicolai Adolphs, Namrata Saha, Beatrix Fauler, Vera M. Kalscheuer, Friederike Hennig, Janine Altmüller, Christian Netzer, Holger Thiele, Peter Nürnberg, Gökhan Yigit, Marten Jäger, Jochen Hecht, Ulrike Krüger, Thorsten Mielke, Peter M. Krawitz, Denise Horn, Markus Schuelke, Stefan Mundlos, Carlos A. Bacino, Penelope E. Bonnen, Bernd Wollnik, Björn Fischer-Zirnsak, Uwe Kornak
Am J Hum Genet. 2017 Nov 2; 101(5): 833–843. Published online 2017 Nov 2. doi: 10.1016/j.ajhg.2017.09.016
PMCID:
PMC5673623
Karin Writzl, Ales Maver, Lidija Kovačič, Paula Martinez-Valero, Laura Contreras, Jorgina Satrustegui, Marco Castori, Laurence Faivre, Pablo Lapunzina, André B.P. van Kuilenburg, Slobodanka Radović, Christel Thauvin-Robinet, Borut Peterlin, Araceli del Arco, Raoul C. Hennekam
Am J Hum Genet. 2017 Nov 2; 101(5): 844–855. Published online 2017 Nov 2. doi: 10.1016/j.ajhg.2017.09.017
PMCID:
PMC5673633
Thi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan, Sophie Ehresmann, Justine Rousseau, Anik St-Denis, Guoliang Chai, Norbert F. Ajeawung, Laura Fairbrother, Tyler Reimschisel, Alexandra Bateman, Elizabeth Berry-Kravis, Fan Xia, Jessica Tardif, David A. Parry, Clare V. Logan, Christine Diggle, Christopher P. Bennett, Louise Hattingh, Jill A. Rosenfeld, Michael Scott Perry, Michael J. Parker, Françoise Le Deist, Maha S. Zaki, Erika Ignatius, Pirjo Isohanni, Tuula Lönnqvist, Christopher J. Carroll, Colin A. Johnson, Joseph G. Gleeson, Taroh Kinoshita, Philippe M. Campeau
Am J Hum Genet. 2017 Nov 2; 101(5): 856–865. Published online 2017 Nov 2. doi: 10.1016/j.ajhg.2017.09.020
PMCID:
PMC5673666

Correction

Lauren M. Watson, Elizabeth Bamber, Ricardo Parolin Schnekenberg, Jonathan Williams, Conceição Bettencourt, Jennifer Lickiss, Sandeep Jayawant, Katherine Fawcett, Samuel Clokie, Yvonne Wallis, Penny Clouston, David Sims, Henry Houlden, Esther B.E. Becker, Andrea H. Németh
Am J Hum Genet. 2017 Nov 2; 101(5): 866. Published online 2017 Nov 2. doi: 10.1016/j.ajhg.2017.10.008
PMCID:
PMC5673670

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics