| 1 | | Ming Li | Ruhong Cheng | Jianying Liang | Heng Yan | Hui Zhang | Lijia Yang | Chengrang Li | Qingqing Jiao | Zhiyong Lu | Jianhui He | Jin Ji | Zhu Shen | Chunqi Li | Fei Hao | Hong Yu | Zhirong Yao |
| | Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos Disease |
| | The American Journal of Human Genetics, Available online 16 May 2013 |
| 2 | | Sheila Unger | Maria W. Górna | Antony Le Béchec | Sonia Do Vale-Pereira | Maria Francesca Bedeschi | Stefan Geiberger | Giedre Grigelioniene | Eva Horemuzova | Faustina Lalatta | Ekkehart Lausch | Cinzia Magnani | Sheela Nampoothiri | Gen Nishimura | Duccio Petrella | Francisca Rojas-Ringeling | Akari Utsunomiya | Bernhard Zabel | Sylvain Pradervand | Keith Harshman | Belinda Campos-Xavier | Luisa Bonafé | Giulio Superti-Furga | Brian Stevenson | Andrea Superti-Furga |
| | FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development |
| | The American Journal of Human Genetics, Available online 16 May 2013 |
| 3 | | Tatiana Popova | Lucie Hebert | Virginie Jacquemin | Sophie Gad | Virginie Caux-Moncoutier | Catherine Dubois-d𢀙Enghien | Bénédicte Richaudeau | Xavier Renaudin | Jason Sellers | André Nicolas | Xavier Sastre-Garau | Laurence Desjardins | Gabor Gyapay | Virginie Raynal | Olga M. Sinilnikova | Nadine Andrieu | Elodie Manié | Antoine de Pauw | Paul Gesta | Valérie Bonadona | Christine M. Maugard | Clotilde Penet | Marie-Françoise Avril | Emmanuel Barillot | Odile Cabaret | Olivier Delattre | Stéphane Richard | Olivier Caron | Meriem Benfodda | Hui-Han Hu | Nadem Soufir | Brigitte Bressac-de Paillerets | Dominique Stoppa-Lyonnet | Marc-Henri Stern |
| | Germline BAP1 Mutations Predispose to Renal Cell Carcinomas |
| | The American Journal of Human Genetics, Available online 16 May 2013 |
| 4 | | Iuliana Ionita-Laza | Seunggeun Lee | Vlad Makarov | Joseph D. Buxbaum | Xihong Lin |
| | Sequence Kernel Association Tests for the Combined Effect of Rare and Common Variants |
| | The American Journal of Human Genetics, Available online 16 May 2013 |
| 5 | | 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 |
| 6 | | 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 |
| 7 | | 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 |
| 8 | | 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 |
| 9 | | 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 |
| 10 | | 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 |
