Are you sure you are not the author of this publication?
R, Igliozzi C, Kim Sm, Klauck A, Kolevzon Ja, Lamb M, Leboyer A, Le Couteur Bl, Leventhal C, Lord Sc, Lund
...
Published in
Human Genetics
Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritabil...
Are you sure you are not the author of this publication?
R, Anney L, Klei D, Pinto R, Regan J, Conroy Tr, Magalhaes C, Correia Bs, Abrahams N, Sykes At, Pagnamenta
...
Published in
Human Molecular Genetics
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphis...
Are you sure you are not the author of this publication?
D, Pinto At, Pagnamenta L, Klei R, Anney D, Merico R, Regan J, Conroy Tr, Magalhaes C, Correia Bs, Abrahams
...
Published in
Nature
The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability. Although ASDs are know...
Are you sure you are not the author of this publication?
Peter, Szatmari Andrew D, Paterson Lonnie, Zwaigenbaum Wendy, Roberts Jessica, Brian Xiao-Qing, Liu John B, Vincent Jennifer L, Skaug Ann P, Thompson Lili, Senman
...
Published in
Nature Genetics
Are you sure you are not the author of this publication?
Jm, Ekholm Mn, Ogdie J, Dang Jt, Mccracken Jj, Mcgough Sl, Smalley Stanley F. Nelson
Published in
The Open Psychiatry Journal
Are you sure you are not the author of this publication?
J, Tsai Z, Chen B, Merriman J, Chen Stanley F. Nelson C-J, Kim
Are you sure you are not the author of this publication?
K, Irizarry V, Kustanovich C, Li N, Brown Stanley F. Nelson W, Wong Cj, Lee
Published in
Nature Genetics
Are you sure you are not the author of this publication?
Cg, Palmer Jn, Bailey C, Ramsey D, Cantwell Js, Sinsheimer M, Del Homme J, Mcgough Ja, Woodward R, Asarnow J, Asarnow
...
Published in
Psychiatric Genetics, Sept
Are you sure you are not the author of this publication?
J, Jen Ah, Cohen Q, Yue Jt, Stout Hv, Vinters Stanley F. Nelson Rw, Baloh
Published in
Neurology
Are you sure you are not the author of this publication?
Pl, Kramer Q, Yue St, Gancher Jg, Nutt R, Baloh E, Smith D, Browne K, Bussey E, Lovrien Stanley F. Nelson
...
Published in
The American Journal of Human Genetics
Are you sure you are not the author of this publication?
C, Bonnard Ac, Strobl M, Shboul Hane Lee B, Merriman Stanley F. Nelson Oh, Ababneh E, Uz T, Güran H, Kayserili
...
Published in
Nature Genetics
Using homozygosity mapping and locus resequencing, we found that alterations in the homeodomain of the IRX5 transcription factor cause a recessive congenital disorder affecting face, brain, blood, heart, bone and gonad development. We found through in vivo modeling in Xenopus laevis embryos that Irx5 modulates the migration of progenitor cell popul...
Are you sure you are not the author of this publication?
Jr, Dwyer N, Sever M, Carlson Stanley F. Nelson Pa, Beachy F, Parhami
Published in
Journal of Biological Chemistry
Pluripotent mesenchymal cells form a population of precursors to a variety of cell types, including osteoblasts and adipocytes. Aging tilts the balance in favor of adipocyte differentiation at the expense of osteoblast differentiation, resulting in reduced bone formation and osteopenic disorders, including osteoporosis, in humans and animals. Under...
Are you sure you are not the author of this publication?
Hane Lee Jc, Jen H, Wang Z, Chen H, Mamsa C, Sabatti Rw, Baloh Stanley F. Nelson
Published in
Human Molecular Genetics
Benign recurrent vertigo (BRV) is a common disorder affecting up to 2% of the adult population and may be etiologically related to migraine because of similarities in the clinical spectrum of the phenotypes and a high co-morbidity within families. Many families have multiple-affected genetically related individuals suggesting familial transmission ...
Are you sure you are not the author of this publication?
Jl, Stone B, Merriman Rm, Cantor Al, Yonan Tc, Gilliam Dh, Geschwind Stanley F. Nelson
Published in
The American Journal of Human Genetics
We investigated the genetic aspects of the large sex bias in the prevalence of autism spectrum disorder by monitoring changes in linkage when the family set for an affected sibling pair genome scan is subdivided on the basis of the sex of affected children. This produces a significant excess in the total number of linkage peaks (P=1.3 x 10(-8)) and...
Are you sure you are not the author of this publication?
J, Nishitani Z, Chen M, Qin F, Liu H, Chen Stanley F. Nelson X, Liu
Published in
Cellular and molecular biology (Noisy-le-Grand, France)
The early stages of head and neck cancer are presumed to require a senes of genetic alterations that are not represented by a distinct clinical phenotype. Therefore, genes with altered expression in the preneoplasia may be useful for the early detection of this highly recurrent cancer. In this study, we immortalized normal human oral keratinocytes ...
Are you sure you are not the author of this publication?
Js, Kim Q, Yue Jc, Jen Stanley F. Nelson Rw, Baloh
Published in
American Journal of Medical Genetics
We searched for mutations in the voltage-gated calcium channel gene, CACNA1A, in nine propositi of families with migraine headaches and episodic vertigo inherited in an autosomal dominant pattern. All 47 exons and flanking introns in CACNA1A were subjected to single-strand conformation polymorphism analysis of polymerase chain reaction-amplified ge...
Are you sure you are not the author of this publication?
Rm, Prins H, Soto V, Konkankit Sk, Odesa A, Eskin Wh, Yong Stanley F. Nelson Lm, Liau
Published in
Clinical Cancer Research
Are you sure you are not the author of this publication?
Mj, Clark N, Homer Bd, O Connor Z, Chen A, Eskin Hane Lee B, Merriman Stanley F. Nelson
Published in
PLoS Genetics
U87MG is a commonly studied grade IV glioma cell line that has been analyzed in at least 1,700 publications over four decades. In order to comprehensively characterize the genome of this cell line and to serve as a model of broad cancer genome sequencing, we have generated greater than 30x genomic sequence coverage using a novel 50-base mate paired...
Are you sure you are not the author of this publication?
Ae, Merrill B, Merriman C, Farrington-Rock N, Camacho Et, Sebald Va, Funari Mj, Schibler Mh, Firestein Za, Cohn Ma, Priore
...
Published in
The American Journal of Human Genetics
The short-rib polydactyly (SRP) syndromes are a heterogeneous group of perinatal lethal skeletal disorders with polydactyly and multisystem organ abnormalities. Homozygosity by descent mapping in a consanguineous SRP family identified a genomic region that contained DYNC2H1, a cytoplasmic dynein involved in retrograde transport in the cilium. Affec...
Are you sure you are not the author of this publication?
M, Sivagnanam Jl, Mueller Hane Lee Z, Chen Stanley F. Nelson D, Turner Sh, Zlotkin Pb, Pencharz By, Ngan O, Libiger
...
Published in
Gastroenterology