Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation

Tekijä Mendiratta, Meenal S, Yang, Yaping, Balazs, Andrea E, Willis, Alecia S, Eng, Christine M, Karaviti, Lefkothea P, Potocki, Lorraine
Julkaistu 2011

Functional Consequences of PRODH Missense Mutations

Tekijä Bender, Hans-Ulrich , Almashanu, Shlomo , Steel, Gary , Hu, Chien-An , Lin, Wei-Wen , Willis, Alecia , Pulver, Ann , Valle, David 
Julkaistu 2005

Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome

Tekijä Vatta, Matteo, Niu, Zhiyv, Lupski, James R., Putnam, Philip, Spoonamore, Katherine G., Fang, Ping, Eng, Christine M., Willis, Alecia S.
Julkaistu 2013

An Ethnic-Specific Polymorphism in the Catalytic Subunit of Glutamate-Cysteine Ligase Impairs the Production of Glutathione Intermediates In Vitro

Tekijä Le, Truc M., Willis, Alecia S., Barr, Frederick E., Cunningham, Gary R., Canter, Jeffrey A., Owens, Sarah E., Apple, Rachel K., Ayodo, George, Reich, David, Summar, Marshall L.
Julkaistu 2010

Molecular Defects in Human Carbamoyl Phosphate Synthetase I: Mutational Spectrum, Diagnostic and Protein Structure Considerations

Tekijä Häberle, Johannes, Shchelochkov, Oleg A., Wang, Jing, Katsonis, Panagiotis, Hall, Lynn, Reiss, Sara, Eeds, Angela, Willis, Alecia, Yadav, Meeta, Summar, Samantha, Lichtarge, Olivier, Rubio, Vicente, Wong, Lee-Jun, Summar, Marshall
Julkaisussa Hum Mutat (2011)

Lysinuric protein intolerance presenting with multiple fractures

Tekijä Posey, Jennifer E., Burrage, Lindsay C., Miller, Marcus J., Liu, Pengfei, Hardison, Matthew T., Elsea, Sarah H., Sun, Qin, Yang, Yaping, Willis, Alecia S., Schlesinger, Alan E., Bacino, Carlos A., Lee, Brendan H.
Julkaisussa Mol Genet Metab Rep (2014)

Deletions in chromosome 6p22.3-p24.3, including <it>ATXN1</it>, are associated with developmental delay and autism spectrum disorders

Tekijä Celestino-Soper Patrícia BS, Skinner Cindy, Schroer Richard, Eng Patricia, Shenai Jayant, Nowaczyk Malgorzata MJ, Terespolsky Deborah, Cushing Donna, Patel Gayle S, Immken LaDonna, Willis Alecia, Wiszniewska Joanna, Matalon Reuben, Rosenfeld Jill A, Stevenson Roger E, Kang Sung-Hae L, Cheung Sau, Beaudet Arthur L, Stankiewicz Pawel
Julkaistu 2012-04-01

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

Tekijä Celestino-Soper, Patrícia BS, Skinner, Cindy, Schroer, Richard, Eng, Patricia, Shenai, Jayant, Nowaczyk, Malgorzata MJ, Terespolsky, Deborah, Cushing, Donna, Patel, Gayle S, Immken, LaDonna, Willis, Alecia, Wiszniewska, Joanna, Matalon, Reuben, Rosenfeld, Jill A, Stevenson, Roger E, Kang, Sung-Hae L, Cheung, Sau Wai, Beaudet, Arthur L, Stankiewicz, Pawel
Julkaistu 2012

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Tekijä Yang, Yaping, Muzny, Donna M., Reid, Jeffrey G., Bainbridge, Matthew N., Willis, Alecia, Ward, Patricia A., Braxton, Alicia, Beuten, Joke, Xia, Fan, Niu, Zhiyv, Hardison, Matthew, Person, Richard, Bekheirnia, Mir Reza, Leduc, Magalie S., Kirby, Amelia, Pham, Peter, Scull, Jennifer, Wang, Min, Ding, Yan, Plon, Sharon E., Lupski, James R., Beaudet, Arthur L., Gibbs, Richard A., Eng, Christine M.
Julkaistu 2013

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Tekijä Yang, Yaping, Muzny, Donna M., Xia, Fan, Niu, Zhiyv, Person, Richard, Ding, Yan, Ward, Patricia, Braxton, Alicia, Wang, Min, Buhay, Christian, Veeraraghavan, Narayanan, Hawes, Alicia, Chiang, Theodore, Leduc, Magalie, Beuten, Joke, Zhang, Jing, He, Weimin, Scull, Jennifer, Willis, Alecia, Landsverk, Megan, Craigen, William J., Bekheirnia, Mir Reza, Stray-Pedersen, Asbjorg, Liu, Pengfei, Wen, Shu, Alcaraz, Wendy, Cui, Hong, Walkiewicz, Magdalena, Reid, Jeffrey, Bainbridge, Matthew, Patel, Ankita, Boerwinkle, Eric, Beaudet, Arthur L., Lupski, James R., Plon, Sharon E., Gibbs, Richard A., Eng, Christine M.
Julkaisussa JAMA (2014)

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

Tekijä Shen, Jun, Oza, Andrea M., del Castillo, Ignacio, Duzkale, Hatice, Matsunaga, Tatsuo, Pandya, Arti, Kang, Hyunseok P., Mar-Heyming, Rebecca, Guha, Saurav, Moyer, Krista, Lo, Christine, Kenna, Margaret, Alexander, John J., Zhang, Yan, Hirsch, Yoel, Luo, Minjie, Cao, Ye, Choy, Kwong Wai, Cheng, Yen-Fu, Avraham, Karen B., Hu, Xinhua, Garrido, Gema, Moreno-Pelayo, Miguel A., Greinwald, John, Zhang, Kejian, Zeng, Yukun, Brownstein, Zippora, Basel-Salmon, Lina, Davidov, Bella, Frydman, Moshe, Weiden, Tzvi, Nagan, Narasimhan, Willis, Alecia, Hemphill, Sarah E., Grant, Andrew R., Siegert, Rebecca K., DiStefano, Marina T., Amr, Sami S., Rehm, Heidi L., Tayoun, Ahmad N. Abou
Julkaisussa Genet Med (2019)