Increasing the diagnostic yield of exome sequencing by copy number variant analysis von Marchuk, Daniel S, Crooks, Kristy, Strande, Natasha, Kaiser-Rogers, Kathleen, Milko, Laura V, Brandt, Alicia, Arreola, Alexandra, Tilley, Christian R, Bizon, Chris, Vora, Neeta L, Wilhelmsen, Kirk C, Evans, James P, Berg, Jonathan S

Volltext

Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings von Seifert, Bryce A, O'Daniel, Julianne M, Amin, Krunal, Marchuk, Daniel S, Patel, Nirali M, Parker, Joel S, Hoyle, Alan P, Mose, Lisle E, Marron, Andrew, Hayward, Michele C, Bizon, Christopher, Wilhelmsen, Kirk C, Evans, James P, Earp, 3rd, H Shelton, Sharpless, Norman E, Hayes, D Neil, Berg, Jonathan S

Volltext

A greedy regression algorithm with coarse weights offers novel advantages von Jeffries, Clark D., Ford, John R., Tilson, Jeffrey L., Perkins, Diana O., Bost, Darius M., Filer, Dayne L., Wilhelmsen, Kirk C.

Volltext

Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing von Filer, Dayne L, Kuo, Fengshen, Brandt, Alicia T, Tilley, Christian R, Mieczkowski, Piotr A, Berg, Jonathan S, Robasky, Kimberly, Li, Yun, Bizon, Chris, Tilson, Jeffery L, Powell, Bradford C, Bost, Darius M, Jeffries, Clark D, Wilhelmsen, Kirk C

Volltext

Can Genetic Analysis of Putative Blood Alzheimer's Disease Biomarkers Lead to Identification of Susceptibility Loci? von Barber, Robert C, Phillips, Nicole R, Tilson, Jeffrey L, Huebinger, Ryan M, Shewale, Shantanu J, Koenig, Jessica L, Mitchel, Jeffrey S, O'Bryant, Sid E, Waring, Stephen C, Diaz-Arrastia, Ramon, Chasse, Scott, Wilhelmsen, Kirk C

Volltext

SMNN: batch effect correction for single-cell RNA-seq data via supervised mutual nearest neighbor detection von Yang, Yuchen, Li, Gang, Qian, Huijun, Wilhelmsen, Kirk C, Shen, Yin, Li, Yun

Volltext

X-Linked Dominant Scapuloperoneal Myopathy Is Due to a Mutation in the Gene Encoding Four-and-a-Half-LIM Protein 1 von Quinzii, Catarina M., Vu, Tuan H., Min, K. Christopher, Tanji, Kurenai, Barral, Sandra, Grewal, Raji P., Kattah, Andrea, Camaño, Pilir, Otaegui, David, Kunimatsu, Teruhito, Blake, David M., Wilhelmsen, Kirk C., Rowland, Lewis P., Hays, Arthur P., Bonilla, Eduardo, Hirano, Michio

Volltext

Pleiotropic loci for cannabis use disorder severity in multi-ancestry high-risk populations von Peng, Qian, Wilhelmsen, Kirk C., Ehlers, Cindy L.

Volltext

The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: Report and review von Couser, Natario L., Masood, Maheer M., Strande, Natasha T., Foreman, Ann Katherine M., Crooks, Kristy, Weck, Karen E., Lu, Mei, Wilhelmsen, Kirk C., Roche, Myra, Evans, James P., Berg, Jonathan S., Powell, Cynthia M.

Volltext

Focused ultrasound-mediated blood-brain barrier opening in Alzheimer's disease: long-term safety, imaging, and cognitive outcomes von Rezai, Ali R, Ranjan, Manish, Haut, Marc W, Carpenter, Jeffrey, D'Haese, Pierre-François, Mehta, Rashi I, Najib, Umer, Wang, Peng, Claassen, Daniel O, Chazen, J Levi, Krishna, Vibhor, Deib, Gerard, Zibly, Zion, Hodder, Sally L, Wilhelmsen, Kirk C, Finomore, Victor, Konrad, Peter E, Kaplitt, Michael

Volltext

Common susceptibility variants are shared between schizophrenia and psoriasis in the Han Chinese population von Yin, Xianyong, MD, PhD, Wineinger, Nathan E., PhD, Wang, Kai, MD, PhD, Yue, Weihua, MD, PhD, Norgren, Nina, PhD, Wang, Ling, MS, Yao, Weiyi, MS, Jiang, Xiaoyun, MS, Wu, Bo, MS, Cui, Yong, MD, PhD, Shen, Changbing, BA, Cheng, Hui, MD, PhD, Zhou, Fusheng, PhD, Chen, Gang, MS, Zuo, Xianbo, MS, Zheng, Xiaodong, MS, Fan, Xing, MD, PhD, Wang, Hongyan, MS, Wang, Lifang, MD, PhD, Lee, Jimmy, PhD, Lam, Max, PhD, Tai, E. Shyong, PhD, Zhang, Zheng, MD, PhD, Huang, Qiong, MD, Sun, Liangdan, MD, PhD, Xu, Jinhua, MD, PhD, Yang, Sen, MD, PhD, Wilhelmsen, Kirk C., MD, PhD, Liu, Jianjun, PhD, Schork, Nicholas J., PhD, Zhang, Xuejun, MD, PhD

Volltext

Indexing the ‘dark side of addiction’: substance‐induced affective symptoms and alcohol use disorders von Ehlers, Cindy L., Gilder, David A., Gizer, Ian R., Wilhelmsen, Kirk C.

Volltext

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly von Aneichyk, Tatsiana, Hendriks, William T., Yadav, Rachita, Shin, David, Gao, Dadi, Vaine, Christine A., Collins, Ryan L., Domingo, Aloysius, Currall, Benjamin, Stortchevoi, Alexei, Multhaupt-Buell, Trisha, Penney, Ellen B., Cruz, Lilian, Dhakal, Jyotsna, Brand, Harrison, Hanscom, Carrie, Antolik, Caroline, Dy, Marisela, Ragavendran, Ashok, Underwood, Jason, Cantsilieris, Stuart, Munson, Katherine M., Eichler, Evan E., Acuña, Patrick, Go, Criscely, Jamora, R. Dominic G., Rosales, Raymond L., Church, Deanna M., Williams, Stephen R., Garcia, Sarah, Klein, Christine, Müller, Ulrich, Wilhelmsen, Kirk C., Timmers, H. T. Marc, Sapir, Yechiam, Wainger, Brian J., Henderson, Daniel, Ito, Naoto, Weisenfeld, Neil, Jaffe, David, Sharma, Nutan, Breakefield, Xandra O., Ozelius, Laurie J., Bragg, D. Cristopher, Talkowski, Michael E.

Volltext

ReQON: a Bioconductor package for recalibrating quality scores from next-generation sequencing data von Cabanski, Christopher R, Cavin, Keary, Bizon, Chris, Wilkerson, Matthew D, Parker, Joel S, Wilhelmsen, Kirk C, Perou, Charles M, Marron, J S, Hayes, D Neil

Volltext

Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians von Ehlers, Cindy L, Lind, Penelope A, Wilhelmsen, Kirk C

Volltext

The feasibility of genetic dissection of endophenotypes von Wilhelmsen, Kirk C.

Volltext

Blood-based protein predictors of dementia severity as measured by δ: Replication across biofluids and cohorts von Royall, Donald R., Bishnoi, Ram J., Palmer, Raymond F., Pavlik, Valory, Massman, Paul, Darby, Eveleen, Rodriguear, Monica, Ansari, Aisha Khaleeq, DeToledo, John C., Reddy, Hemachandra, Wilms, Henrick, Johnson, Kim, Perez, Victoria, Fairchild, Thomas, Knebl, Janice, O'Bryant, Sid E., Hall, James R., Johnson, Leigh, Barber, Robert C., Mains, Douglas, Alvarez, Lisa, Cullum, Munro, Rosenberg, Roger, Williams, Benjamin, Quiceno, Mary, Reisch, Joan, Hynan, Linda S., Huebinger, Ryan, Smith, Janet, Nguyen, Trung, Royall, Donald, Palmer, Raymond, Polk, Marsha, Stevens, Alan, Ory, Marcia, Paydarfar, David, Bertelson, John, Woon, Martin, Ayres, Gayle, Aguirre, Alyssa, Wilhelmsen, Kirk C., Tilson, Jeffrey L.

Volltext

Genetic risk for trait aggression and alcohol use predict unique facets of alcohol-related aggression von Spychala, Kellyn M, Yeung, Ellen W, Miller, Alex P, Slutske, Wendy S, Action Consortium, Wilhelmsen, Kirk C, Gizer, Ian R

Volltext

An informatics approach to analyzing the incidentalome von Berg, Jonathan S., Adams, Michael, Nassar, Nassib, Bizon, Chris, Lee, Kristy, Schmitt, Charles P., Wilhelmsen, Kirk C., Evans, James P.

Volltext

Common genetic substrates of alcohol and substance use disorder severity revealed by pleiotropy detection against GWAS catalog in two populations von Peng, Qian, Wilhelmsen, Kirk C., Ehlers, Cindy L.

Volltext