Search Results - "JAWORSKI, James M"

Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways by GRISWOLD, Anthony J, DEQIONG MA, WRIGHT, Harry H, ABRAMSON, Ruth K, WILLIAMS, Scott M, MENON, Ramkumar, MARTIN, Eden R, HAINES, Jonathan L, GILBERT, John R, CUCCARO, Michael L, PERICAK-VANCE, Margaret A, CUKIER, Holly N, NATIONS, Laura D, SCHMIDT, Mike A, CHUNG, Ren-Hua, JAWORSKI, James M, SALYAKINA, Daria, KONIDARI, Loanna, WHITEHEAD, Patrice L

“…Autism spectrum disorders (ASDs) are highly heritable, yet relatively few associated genetic loci have been replicated. Copy number variations (CNVs) have been…”
Get full text

A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism by Hussman, John P, Chung, Ren-Hua, Griswold, Anthony J, Jaworski, James M, Salyakina, Daria, Ma, Deqiong, Konidari, Ioanna, Whitehead, Patrice L, Vance, Jeffery M, Martin, Eden R, Cuccaro, Michael L, Gilbert, John R, Haines, Jonathan L, Pericak-Vance, Margaret A

“…Genome-wide Association Studies (GWAS) have proved invaluable for the identification of disease susceptibility genes. However, the prioritization of candidate…”
Get full text

Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk by Salyakina, Daria, Cukier, Holly N, Lee, Joycelyn M, Sacharow, Stephanie, Nations, Laura D, Ma, Deqiong, Jaworski, James M, Konidari, Ioanna, Whitehead, Patrice L, Wright, Harry H, Abramson, Ruth K, Williams, Scott M, Menon, Ramkumar, Haines, Jonathan L, Gilbert, John R, Cuccaro, Michael L, Pericak-Vance, Margaret A

“…Copy number variations (CNVs) are a major cause of genetic disruption in the human genome with far more nucleotides being altered by duplications and deletions…”
Get full text

Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants by Griswold, Anthony J, Dueker, Nicole D, Van Booven, Derek, Rantus, Joseph A, Jaworski, James M, Slifer, Susan H, Schmidt, Michael A, Hulme, William, Konidari, Ioanna, Whitehead, Patrice L, Cuccaro, Michael L, Martin, Eden R, Haines, Jonathan L, Gilbert, John R, Hussman, John P, Pericak-Vance, Margaret A

“…Autism spectrum disorder (ASD) is highly heritable, yet genome-wide association studies (GWAS), copy number variation screens, and candidate gene association…”
Get full text

An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males by Chung, Ren-Hua, Ma, Deqiong, Wang, Kai, Hedges, Dale J, Jaworski, James M, Gilbert, John R, Cuccaro, Michael L, Wright, Harry H, Abramson, Ruth K, Konidari, Ioanna, Whitehead, Patrice L, Schellenberg, Gerard D, Hakonarson, Hakon, Haines, Jonathan L, Pericak-Vance, Margaret A, Martin, Eden R

“…Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a strong genetic component. The skewed prevalence toward males and evidence…”
Get full text

Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci by Hedges, Dale J, Hamilton-Nelson, Kara L, Sacharow, Stephanie J, Nations, Laura, Beecham, Gary W, Kozhekbaeva, Zhanna M, Butler, Brittany L, Cukier, Holly N, Whitehead, Patrice L, Ma, Deqiong, Jaworski, James M, Nathanson, Lubov, Lee, Joycelyn M, Hauser, Stephen L, Oksenberg, Jorge R, Cuccaro, Michael L, Haines, Jonathan L, Gilbert, John R, Pericak-Vance, Margaret A

“…Autism spectrum disorders (ASD) represent a group of neurodevelopmental disorders characterized by a core set of social-communicative and behavioral…”
Get full text

Lack of Association Between Autism and SLC25A12 by Rabionet, Raquel, McCauley, Ph.D., Jacob L., Jaworski, M.P.H., James M., Ashley-Koch, Allison E., Martin, Eden R., Sutcliffe, James S., Haines, Jonathan L., DeLong, G. Robert, Abramson, Ruth K., Wright, Harry H., Cuccaro, Michael L., Gilbert, John R., Pericak-Vance, Margaret A.

“…Objective: Autism has a strong, complex genetic component, most likely involving several genes. Multiple genomic screens have shown evidence suggesting linkage…”
Get full text

Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes by Rabionet, Raquel, Jaworski, James M., Ashley-Koch, Allison E., Martin, Eden R., Sutcliffe, James S., Haines, Jonathan L., DeLong, G. Robert, Abramson, Ruth K., Wright, Harry H., Cuccaro, Michael L., Gilbert, John R., Pericak-Vance, Margaret A.

“…Autism has a strong and complex genetic component, involving several genes. Genomic screens, including our own, have shown suggestive evidence for linkage over…”
Get full text

A Genome‐wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1 by Ma, Deqiong, Salyakina, Daria, Jaworski, James M., Konidari, Ioanna, Whitehead, Patrice L., Andersen, Ashley N., Hoffman, Joshua D., Slifer, Susan H., Hedges, Dale J., Cukier, Holly N., Griswold, Anthony J., McCauley, Jacob L., Beecham, Gary W., Wright, Harry H., Abramson, Ruth K., Martin, Eden R., Hussman, John P., Gilbert, John R., Cuccaro, Michael L., Haines, Jonathan L., Pericak‐Vance, Margaret A.

“…Summary Although autism is one of the most heritable neuropsychiatric disorders, its underlying genetic architecture has largely eluded description. To…”
Get full text

A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis by Griswold, Anthony J., Ma, Deqiong, Sacharow, Stephanie J., Robinson, Joycelyn L., Jaworski, James M., Wright, Harry H., Abramson, Ruth K., Lybæk, Helle, Øyen, Nina, Cuccaro, Michael L., Gilbert, John R., Pericak-Vance, Margaret A.

“…Autism is a neuro‐developmental disorder characterized by deficits in social interaction and communication as well as restricted interests or repetitive…”
Get full text

Identification of chromosome 7 inversion breakpoints in an autistic family narrows candidate region for autism susceptibility by Cukier, Holly N., Skaar, David A., Rayner-Evans, Melissa Y., Konidari, Ioanna, Whitehead, Patrice L., Jaworski, James M., Cuccaro, Michael L., Pericak-Vance, Margaret A., Gilbert, John R.

“…Chromosomal breaks and rearrangements have been observed in conjunction with autism and autistic spectrum disorders. A chromosomal inversion has been…”
Get full text

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1 by Ahmeti, Kreshnik B, Ajroud-Driss, Senda, Al-Chalabi, Ammar, Andersen, Peter M, Armstrong, Jennifer, Birve, Anne, Blauw, Hylke M, Brown, Robert H, Bruijn, Lucie, Chen, Wenjie, Chio, Adriano, Comeau, Mary C, Cronin, Simon, Diekstra, Frank P, Soraya Gkazi, Athina, Glass, Jonathan D, Grab, Josh D, Groen, Ewout J, Haines, Jonathan L, Hardiman, Orla, Heller, Scott, Huang, Jie, Hung, Wu-Yen, Jaworski, James M, Jones, Ashley, Khan, Humaira, Landers, John E, Langefeld, Carl D, Leigh, P Nigel, Marion, Miranda C, McLaughlin, Russell L, Meininger, Vincent, Melki, Judith, Miller, Jack W, Mora, Gabriele, Pericak-Vance, Margaret A, Rampersaud, Evadnie, Robberecht, Wim, Russell, Laurie P, Salachas, Francois, Saris, Christiaan G, Shatunov, Aleksey, Shaw, Christopher E, Siddique, Nailah, Siddique, Teepu, Smith, Bradley N, Sufit, Robert, Topp, Simon, Traynor, Bryan J, Vance, Caroline, van Damme, Philip, van den Berg, Leonard H, van Es, Michael A, van Vught, Paul W, Veldink, Jan H, Yang, Yi, Zheng, J G

“…Abstract Amyotrophic lateral sclerosis (ALS) is the third most common adult-onset neurodegenerative disease. Individuals with ALS rapidly progress to paralysis…”
Get full text