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

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

Functional Consequences of PRODH Missense Mutations

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

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

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

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

od 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.
Wydane 2010

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

od 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
Wydane w Hum Mutat (2011)

Lysinuric protein intolerance presenting with multiple fractures

od 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.
Wydane w 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

od 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
Wydane 2012-04-01

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

od 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
Wydane 2012

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

od 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.
Wydane 2013

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

od 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.
Wydane w JAMA (2014)

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

od 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
Wydane w Genet Med (2019)