Alzheimer disease (AD) specific transcription, DNA methylation and splicing in twenty AD associated loci

بواسطة Humphries, Crystal, Kohli, Martin A., Whitehead, Patrice, Mash, Deborah C., Pericak-Vance, Margaret A., Gilbert, John
الحاوية / القاعدة Mol Cell Neurosci (2015)

A novel ARMS2 Splice Variant is identified in Human Retina

بواسطة Wang, Gaofeng, Scott, William K., Whitehead, Patrice, Court, Brenda L., Kovach, Jaclyn L., Schwartz, Stephen G., Agarwal, Anita, Dubovy, Sander, Haines, Jonathan L., Pericak-Vance, Margaret A.
منشور في 2011

Identification of Chromosome 7 Inversion Breakpoints in an Autistic Family Narrows Candidate Region for Autism Susceptibility

بواسطة 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.
الحاوية / القاعدة Autism Res (2009)

SORL1 mutations in early- and late-onset Alzheimer disease

بواسطة Cuccaro, Michael L., Carney, Regina M., Zhang, Yalun, Bohm, Christopher, Kunkle, Brian W., Vardarajan, Badri N., Whitehead, Patrice L., Cukier, Holly N., Mayeux, Richard, St. George-Hyslop, Peter, Pericak-Vance, Margaret A.
الحاوية / القاعدة Neurol Genet (2016)

Investigation of autism and GABA receptor subunit genes in multiple ethnic groups

بواسطة Collins, Ann L., Ma, Deqiong, Whitehead, Patrice L., Martin, Eden R., Wright, Harry H., Abramson, Ruth K., Hussman, John P., Haines, Jonathan L., Cuccaro, Michael L., Gilbert, John R., Pericak-Vance, Margaret A.
منشور في 2006

Analysis of single nucleotide polymorphisms in the NOS2A gene and interaction with smoking in age-related macular degeneration

بواسطة AYALA-HAEDO, JUAN A., GALLINS, PAUL J., WHITEHEAD, PATRICE L., SCHWARTZ, STEPHEN G., KOVACH, JACLYN L., POSTEL, ERIC A., AGARWAL, ANITA, WANG, GAOFENG, HAINES, JONATHAN L., PERICAK-VANCE, MARGARET A., SCOTT, WILLIAM K.
منشور في 2010

Use of local genetic ancestry to assess TOMM40-523′ and risk for Alzheimer disease

بواسطة Bussies, Parker L., Rajabli, Farid, Griswold, Anthony, Dorfsman, Daniel A., Whitehead, Patrice, Adams, Larry D., Mena, Pedro R., Cuccaro, Michael, Haines, Jonathan L., Byrd, Goldie S., Beecham, Gary W., Pericak-Vance, Margaret A., Young, Juan I., Vance, Jeffery M.
الحاوية / القاعدة Neurol Genet (2020)

Analysis of the indel at the ARMS2 3′UTR in age-related macular degeneration

بواسطة Wang, Gaofeng, Spencer, Kylee L., Scott, William K., Whitehead, Patrice, Court, Brenda L., Ayala-Haedo, Juan, Mayo, Ping, Schwartz, Stephen G., Kovach, Jaclyn L., Gallins, Paul, Polk, Monica, Agarwal, Anita, Postel, Eric A., Haines, Jonathan L., Pericak-Vance, Margaret A.
منشور في 2010

A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism

بواسطة 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
منشور في 2011

Progression Rate From Intermediate to Advanced Age-Related Macular Degeneration Is Correlated With the Number of Risk Alleles at the CFH Locus

بواسطة Sardell, Rebecca J., Persad, Patrice J., Pan, Samuel S., Whitehead, Patrice, Adams, Larry D., Laux, Reneé A., Fortun, Jorge A., Brantley, Milam A., Kovach, Jaclyn L., Schwartz, Stephen G., Agarwal, Anita, Haines, Jonathan L., Scott, William K., Pericak-Vance, Margaret A.
الحاوية / القاعدة Invest Ophthalmol Vis Sci (2016)

Evaluating mitochondrial DNA variation in autism spectrum disorders

بواسطة HADJIXENOFONTOS, ATHENA, SCHMIDT, MICHAEL A., WHITEHEAD, PATRICE L., KONIDARI, IOANNA, HEDGES, DALE J., WRIGHT, HARRY H., ABRAMSON, RUTH K., MENON, RAMKUMAR, WILLIAMS, SCOTT M., CUCCARO, MICHAEL L., HAINES, JONATHAN L., GILBERT, JOHN R., PERICAK-VANCE, MARGARET A., MARTIN, EDEN R., MCCAULEY, JACOB L.
منشور في 2012

Whole exome sequencing of extreme age-related macular degeneration phenotypes

بواسطة Sardell, Rebecca J., Bailey, Jessica N Cooke, Courtenay, Monique D., Whitehead, Patrice, Laux, Reneé A., Adams, Larry D., Fortun, Jorge A., Brantley, Milam A., Kovach, Jaclyn L., Schwartz, Stephen G., Agarwal, Anita, Scott, William K., Haines, Jonathan L., Pericak-Vance, Margaret A.
الحاوية / القاعدة Mol Vis (2016)

An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males

بواسطة 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
منشور في 2011

Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk

بواسطة 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.
منشور في 2011

The Expanding Role of MBD Genes in Autism: Identification of a MECP2 Duplication and Novel Alterations in MBD5, MBD6, and SETDB1

بواسطة Cukier, Holly N., Lee, Joycelyn M., Ma, Deqiong, Young, Juan I., Mayo, Vera, Butler, Brittany L., Ramsook, Sandhya S., Rantus, Joseph A., Abrams, Alexander J., Whitehead, Patrice L., Wright, Harry H., Abramson, Ruth K., Haines, Jonathan L., Cuccaro, Michael L., Pericak-Vance, Margaret A., Gilbert, John R.
منشور في 2012

Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis

بواسطة Kozol, Robert A., Cukier, Holly N., Zou, Bing, Mayo, Vera, De Rubeis, Silvia, Cai, Guiqing, Griswold, Anthony J., Whitehead, Patrice L., Haines, Jonathan L., Gilbert, John R., Cuccaro, Michael L., Martin, Eden R., Baker, James D., Buxbaum, Joseph D., Pericak-Vance, Margaret A., Dallman, Julia E.
الحاوية / القاعدة Hum Mol Genet (2015)

Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants

بواسطة 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.
الحاوية / القاعدة Mol Autism (2015)

Dementia Revealed: Novel Chromosome 6 Locus for Late-Onset Alzheimer Disease Provides Genetic Evidence for Folate-Pathway Abnormalities

بواسطة Naj, Adam C., Beecham, Gary W., Martin, Eden R., Gallins, Paul J., Powell, Eric H., Konidari, Ioanna, Whitehead, Patrice L., Cai, Guiqing, Haroutunian, Vahram, Scott, William K., Vance, Jeffery M., Slifer, Michael A., Gwirtsman, Harry E., Gilbert, John R., Haines, Jonathan L., Buxbaum, Joseph D., Pericak-Vance, Margaret A.
منشور في 2010

Repeat expansions in the C9ORF72 gene contribute to Alzheimer disease in Caucasians

بواسطة Kohli, Martin A., John-Williams, Krista, Rajbhandary, Ruchita, Naj, Adam, Whitehead, Patrice, Hamilton, Kara, Carney, Regina M., Wright, Clinton, Crocco, Elizabeth, Gwirtzman, Harry E., Lang, Rosalyn, Beecham, Gary, Martin, Eden R., Gilbert, John, Benatar, Michael, Small, Gary W., Mash, Deborah, Byrd, Goldie, Haines, Jonathan L., Pericak-Vance, Margaret A., Züchner, Stephan
منشور في 2012

RNA editing alterations in a multi-ethnic Alzheimer disease cohort converge on immune and endocytic molecular pathways

بواسطة Gardner, Olivia K, Wang, Lily, Van Booven, Derek, Whitehead, Patrice L, Hamilton-Nelson, Kara L, Adams, Larry D, Starks, Takiyah D, Hofmann, Natalia K, Vance, Jeffery M, Cuccaro, Michael L, Martin, Eden R, Byrd, Goldie S, Haines, Jonathan L, Bush, William S, Beecham, Gary W, Pericak-Vance, Margaret A, Griswold, Anthony J
الحاوية / القاعدة Hum Mol Genet (2019)