Recent articles

Wed May 15

1		Fransiska Malfait \| Ariana Kariminejad \| Tim Van Damme \| Caroline Gauche \| Delfien Syx \| Faten Merhi-Soussi \| Sandrine Gulberti \| Sofie Symoens \| Suzanne Vanhauwaert \| Andy Willaert \| Bita Bozorgmehr \| Mohamad Hasan Kariminejad \| Nazanin Ebrahimiadib \| Ingrid Hausser \| Ann Huysseune \| Sylvie Fournel-Gigleux \| Anne De Paepe
		Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos Syndrome-like Connective Tissue Disorder
		The American Journal of Human Genetics, Available online 9 May 2013
2		Kristien Peeters \| Ivan Litvinenko \| Bob Asselbergh \| Leonardo Almeida-Souza \| Teodora Chamova \| Thomas Geuens \| Elke Ydens \| Magdalena Zimoń \| Joy Irobi \| Els De Vriendt \| Vicky De Winter \| Tinne Ooms \| Vincent Timmerman \| Ivailo Tournev \| Albena Jordanova
		Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance
		The American Journal of Human Genetics, Available online 9 May 2013
3		Masahiro Nakajima \| Shuji Mizumoto \| Noriko Miyake \| Ryo Kogawa \| Aritoshi Iida \| Hironori Ito \| Hiroshi Kitoh \| Aya Hirayama \| Hiroshi Mitsubuchi \| Osamu Miyazaki \| Rika Kosaki \| Reiko Horikawa \| Angeline Lai \| Roberto Mendoza-Londono \| Lucie Dupuis \| David Chitayat \| Andrew Howard \| Gabriela F. Leal \| Denise Cavalcanti \| Yoshinori Tsurusaki \| Hirotomo Saitsu \| Shigehiko Watanabe \| Ekkehart Lausch \| Sheila Unger \| Luisa Bonafé \| Hirofumi Ohashi \| Andrea Superti-Furga \| Naomichi Matsumoto \| Kazuyuki Sugahara \| Gen Nishimura \| Shiro Ikegawa
		Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders
		The American Journal of Human Genetics, Available online 9 May 2013
4		Emily C. Oates \| Alexander M. Rossor \| Majid Hafezparast \| Michael Gonzalez \| Fiorella Speziani \| Daniel G. MacArthur \| Monkol Lek \| Ellen Cottenie \| Mariacristina Scoto \| A. Reghan Foley \| Matthew Hurles \| Henry Houlden \| Linda Greensmith \| Michaela Auer-Grumbach \| Thomas R. Pieber \| Tim M. Strom \| Rebecca Schule \| David N. Herrmann \| Janet E. Sowden \| Gyula Acsadi \| Manoj P. Menezes \| Nigel F. Clarke \| Stephan Züchner \| Francesco Muntoni \| Kathryn N. North \| Mary M. Reilly
		Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
		The American Journal of Human Genetics, Available online 9 May 2013
5		Kornelia Neveling \| Lilian A. Martinez-Carrera \| Irmgard Hölker \| Angelien Heister \| Aad Verrips \| Seyyed Mohsen Hosseini-Barkooie \| Christian Gilissen \| Sascha Vermeer \| Maartje Pennings \| Rowdy Meijer \| Margot te Riele \| Catharina J.M. Frijns \| Oksana Suchowersky \| Linda MacLaren \| Sabine Rudnik-Schöneborn \| Richard J. Sinke \| Klaus Zerres \| R. Brian Lowry \| Henny H. Lemmink \| Lutz Garbes \| Joris A. Veltman \| Helenius J. Schelhaas \| Hans Scheffer \| Brunhilde Wirth
		Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy
		The American Journal of Human Genetics, Available online 9 May 2013
6		Ida J. Hatoum \| Danielle M. Greenawalt \| Chris Cotsapas \| Mark J. Daly \| Marc L. Reitman \| Lee M. Kaplan
		Weight Loss after Gastric Bypass Is Associated with a Variant at 15q26.1
		The American Journal of Human Genetics, Volume 92, Issue 5, 2 May 2013, Pages 827-834
7		Kazuya Kashiyama \| Yuka Nakazawa \| Daniela T. Pilz \| Chaowan Guo \| Mayuko Shimada \| Kensaku Sasaki \| Heather Fawcett \| Jonathan F. Wing \| Susan O. Lewin \| Lucinda Carr \| Tao-Sheng Li \| Koh-ichiro Yoshiura \| Atsushi Utani \| Akiyoshi Hirano \| Shunichi Yamashita \| Danielle Greenblatt \| Tiziana Nardo \| Miria Stefanini \| David McGibbon \| Robert Sarkany \| Hiva Fassihi \| Yoshito Takahashi \| Yuji Nagayama \| Norisato Mitsutake \| Alan R. Lehmann \| Tomoo Ogi
		Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia
		The American Journal of Human Genetics, Volume 92, Issue 5, 2 May 2013, Pages 807-819
8		Cas Simons \| Nicole I. Wolf \| Nathan McNeil \| Ljubica Caldovic \| Joseph M. Devaney \| Asako Takanohashi \| Joanna Crawford \| Kelin Ru \| Sean M. Grimmond \| David Miller \| Davide Tonduti \| Johanna L. Schmidt \| Robert S. Chudnow \| Rudy van Coster \| Lieven Lagae \| Jill Kisler \| Jürgen Sperner \| Marjo S. van der Knaap \| Raphael Schiffmann \| Ryan J. Taft \| Adeline Vanderver
		A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum
		The American Journal of Human Genetics, Volume 92, Issue 5, 2 May 2013, Pages 767-773
9		Veronique Pingault \| Virginie Bodereau \| Viviane Baral \| Severine Marcos \| Yuli Watanabe \| Asma Chaoui \| Corinne Fouveaut \| Chrystel Leroy \| Odile Vérier-Mine \| Christine Francannet \| Delphine Dupin-Deguine \| Françoise Archambeaud \| François-Joseph Kurtz \| Jacques Young \| Jérôme Bertherat \| Sandrine Marlin \| Michel Goossens \| Jean-Pierre Hardelin \| Catherine Dodé \| Nadege Bondurand
		Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness
		The American Journal of Human Genetics, Volume 92, Issue 5, 2 May 2013, Pages 707-724
10		Anastasia L. Wise \| Lin Gyi \| Teri A. Manolio
		eXclusion: Toward Integrating the X Chromosome in Genome-wide Association Analyses
		The American Journal of Human Genetics, Volume 92, Issue 5, 2 May 2013, Pages 643-647