Daisuke Sato - Papers

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, Giuliano F, Stordeur C, Depienne C, Mouzat K …

PLoS genetics, 10(9) e1004580, Sep, 2014 Peer-reviewed

A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus

Ling Oei, Yi-Hsiang Hsu, Unnur Styrkarsdottir, Bert H. Eussen, Annelies de Klein, Marjolein J. Peters, Bjarni Halldorsson, Ching-Ti Liu, Nerea Alonso, Stephen K. Kaptoge …

JOURNAL OF MEDICAL GENETICS, 51(2) 122-131, Feb, 2014 Peer-reviewed

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.

Lionel AC, Vaags AK, Sato D, Gazzellone MJ, Mitchell EB, Chen HY, Costain G, Walker S, Egger G, Thiruvahindrapuram B …

Human molecular genetics, 22 2055-2066, May, 2013 Peer-reviewed

A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder

Aparna Prasad, Daniele Merico, Bhooma Thiruvahindrapuram, John Wei, Anath C. Lionel, Daisuke Sato, Jessica Rickaby, Chao Lu, Peter Szatmari, Wendy Roberts …

G3-GENES GENOMES GENETICS, 2(12) 1665-1685, Dec, 2012 Peer-reviewed

SHANK1 Deletions in Males with Autism Spectrum Disorder

Daisuke Sato, Anath C. Lionel, Claire S. Leblond, Aparna Prasad, Dalila Pinto, Susan Walker, Irene O'Connor, Carolyn Russell, Irene E. Drmic, Fadi F. Hamdan …

AMERICAN JOURNAL OF HUMAN GENETICS, 90(5) 879-887, May, 2012 Peer-reviewed

Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder

Andrea K. Vaags, Anath C. Lionel, Daisuke Sato, McKinsey Goodenberger, Quinn P. Stein, Sarah Curran, Caroline Ogilvie, Joo Wook Ahn, Irene Drmic, Lili Senman …

AMERICAN JOURNAL OF HUMAN GENETICS, 90(1) 133-141, Jan, 2012 Peer-reviewed

A genome-wide scan for common alleles affecting risk for autism

Richard Anney, Lambertus Klei, Dalila Pinto, Regina Regan, Judith Conroy, Tiago R. Magalhaes, Catarina Correia, Brett S. Abrahams, Nuala Sykes, Alistair T. Pagnamenta …

HUMAN MOLECULAR GENETICS, 19(20) 4072-4082, Oct, 2010 Peer-reviewed

Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability

Abdul Noor, Annabel Whibley, Christian R. Marshall, Peter J. Gianakopoulos, Amelie Piton, Andrew R. Carson, Marija Orlic-Milacic, Anath C. Lionel, Daisuke Sato, Dalila Pinto …

SCIENCE TRANSLATIONAL MEDICINE, 2(49) 49ra68, Sep, 2010 Peer-reviewed

Functional impact of global rare copy number variation in autism spectrum disorders

Dalila Pinto, Alistair T. Pagnamenta, Lambertus Klei, Richard Anney, Daniele Merico, Regina Regan, Judith Conroy, Tiago R. Magalhaes, Catarina Correia, Brett S. Abrahams …

NATURE, 466(7304) 368-372, Jul, 2010 Peer-reviewed

A ZRS Duplication Causes Syndactyly Type IV With Tibial Hypoplasia

Lingqian Wu, Desheng Liang, Norio Niikawa, Fen Ma, Miao Sun, Qian Pan, Zhigao Long, Zhongmin Zhou, Koh-ichiro Yoshiura, Hua Wang …

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 149A(4) 816-818, Apr, 2009 Peer-reviewed

No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome

Hideo Kuniba, Daisuke Sato, Koh-ichiro Yoshiura, Hirofumi Ohashi, Kenji Kurosawa, Noriko Miyake, Tasturo Kondoh, Tadashi Matsumoto, Toshiro Nagai, Nobuhiko Okamoto …

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A(14) 1893-1896, Jul, 2008 Peer-reviewed

A girl with Down syndrome and partial trisomy for 21pter-q22.13: A clue to narrow the Down syndrome critical region

Daisuke Sato, Hiroki Kawara, Osamu Shimokawa, Naoki Harada, Hidefumi Tonoki, Nobuhiro Takahashi, Yumi Imai, Hiromi Kimura, Naomichi Matsumoto, Tadashi Ariga …

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A(1) 124-127, Jan, 2008 Peer-reviewed

A syndactyly type IV locus maps to 7q36

Daisuke Sato, Desheng Liang, Lingqian Wu, Qian Pan, Kun Xia, Heping Dai, Hua Wang, Gen Nishimura, Koh-Ichiro Yoshiura, Jiahui Xia …

JOURNAL OF HUMAN GENETICS, 52(6) 561-564, Jun, 2007 Peer-reviewed

Congenital arhinia: Molecular-genetic analysis of five patients

Daisuke Sato, Osamu Shimokawa, Naoki Harada, Oystein E. Olsen, Jia-Woei Hou, Wolfgang Muhlbauer, Ellen Blinkenberg, Nobuhiko Okamoto, Akira Kinoshita, Naomichi Matsumoto …

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 143A(6) 546-552, Mar, 2007 Peer-reviewed