Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosis von Willis, Alecia S., van den Veyver, Ignatia, Eng, Christine M.

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Lysinuric Protein Intolerance Presenting with Multiple Fractures von 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

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Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome von Vatta, Matteo, Niu, Zhiyv, Lupski, James R., Putnam, Philip, Spoonamore, Katherine G., Fang, Ping, Eng, Christine M., Willis, Alecia S.

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Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation von Mendiratta, Meenal S, Yang, Yaping, Balazs, Andrea E, Willis, Alecia S, Eng, Christine M, Karaviti, Lefkothea P, Potocki, Lorraine

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An ethnic-specific polymorphism in the catalytic subunit of glutamate-cysteine ligase impairs the production of glutathione intermediates in vitro von 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.

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Ethnic diversity in a critical gene responsible for glutathione synthesis von Willis, Alecia S, Freeman, Michael L, Summar, Samantha R, Barr, Frederick E, Williams, Scott M, Dawson, Elliott, Summar, Marshall L

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An Insertion/Deletion Polymorphism in the Glutathione Biosynthesis Pathway Is Associated with Earlier Onset of Alzheimer's Disease and Increased Susceptibility to Oxidant Injury In... von Le, Truc M., Willis, Alecia S., Haines, Jonathan L., Summar, Marshall L., Cornfield, David N.

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Lysinuric Protein Intolerance Presenting with Multiple Fractures von 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

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Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification von Song, Wei, Gardner, Sabrina A., Hovhannisyan, Hayk, Natalizio, Amanda, Weymouth, Katelyn S., Chen, Wenjie, Thibodeau, Ildiko, Bogdanova, Ekaterina, Letovsky, Stanley, Willis, Alecia, Nagan, Narasimhan

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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders von 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

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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders von YAPING YANG, MUZNY, Donna M, HARDISON, Matthew, PERSON, Richard, MIR REZA BEKHEIRNIA, LEDUC, Magalie S, KIRBY, Amelia, PHAM, Peter, SCULL, Jennifer, MIN WANG, YAN DING, PLON, Sharon E, REID, Jeffrey G, LUPSKI, James R, BEAUDET, Arthur L, GIBBS, Richard A, ENG, Christine M, BAINBRIDGE, Matthew N, WILLIS, Alecia, WARD, Patricia A, BRAXTON, Alicia, BEUTEN, Joke, FAN XIA, NIU, Zhiyv

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Early Childhood Home Visiting von Duffee, James H, Mendelsohn, Alan L, Kuo, Alice A, Legano, Lori A, Earls, Marian F

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Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations von 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

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Quality Early Education and Child Care From Birth to Kindergarten von Donoghue, Elaine A

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PRODH variants and risk for schizophrenia von Willis, Alecia, Bender, Hans Uli, Steel, Gary, Valle, David

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

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Functional Consequences of PRODH Missense Mutations von Bender, Hans-Ulrich, Almashanu, Shlomo, Steel, Gary, Hu, Chien-An, Lin, Wei-Wen, Willis, Alecia, Pulver, Ann, Valle, David

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Multilocus Analysis of Hypertension: A Hierarchical Approach von Williams, Scott M., Ritchie, Marylyn D., Phillips, John A., Dawson, Elliot, Prince, Melissa, Dzhura, Elvira, Willis, Alecia, Semenya, Amma, Summar, Marshall, White, Bill C., Addy, Jonathan H., Kpodonu, John, Wong, Lee-Jun, Felder, Robin A., Jose, Pedro A., Moore, Jason H.

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

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POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria von Bekheirnia, Mir Reza, Zhang, Wei, Eble, Tanya, Willis, Alecia, Shaibani, Aziz, Wong, Lee-Jun C., Scaglia, Fernando, Dhar, Shweta U.

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