Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizures()

Por Pascual, Franchette T., Wierenga, Klaas J., Ng, Yu-Tze
Publicado em 2013

High-Throughput Screening for Human Galactokinase Inhibitors

Por WIERENGA, KLAAS J., LAI, KENT, BUCHWALD, PETER, TANG, MANSHU
Publicado em 2008

A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents

Por Wierenga, Klaas J., Jiang, Zhijie, Yang, Amy C., Mulvihill, John J., Tsinoremas, Nicholas F.
Publicado em 2013

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

Por Nesin, Vasyl, Wiley, Graham, Kousi, Maria, Ong, E-Ching, Lehmann, Thomas, Nicholl, David J., Suri, Mohnish, Shahrizaila, Nortina, Katsanis, Nicholas, Gaffney, Patrick M., Wierenga, Klaas J., Tsiokas, Leonidas
Publicado em 2014

A Novel POLG Gene Mutation in 4 Children With Alpers-like Hepatocerebral Syndromes

Por Kurt, Bulent, Jaeken, Jaak, Van Hove, Johan, Lagae, Lieven, Löfgren, Ann, Everman, David B., Jayakar, Parul, Naini, Ali, Wierenga, Klaas J., Van Goethem, Gert, Copeland, William C., DiMauro, Salvatore
Publicado em 2010

THIAMINE RESPONSIVE MEGALOBLASTIC ANEMIA: Identification of novel compound heterozygotes and mutation update

Por Neuwirth, Anke K., Sahai, Inderneel, Falcone, Jill F., Fleming, Judy, Bagg, Adam, Borgna-Pignatti, Caterina, Casey, Robin, Fabris, Luca, Hexner, Elizabeth, Mathews, Lulu, Ribeiro, Maria Leticia, Wierenga, Klaas J., Neufeld, Ellis J.
Publicado em 2009

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

Por Wang, Jia-Chi, Ross, Leslie, Mahon, Loretta W, Owen, Renius, Hemmat, Morteza, Wang, Boris T, El Naggar, Mohammed, Kopita, Kimberly A, Randolph, Linda M, Chase, John M, Matas Aguilera, Maria J, Siles, Juan López, Church, Joseph A, Hauser, Natalie, Shen, Joseph J, Jones, Marilyn C, Wierenga, Klaas J, Jiang, Zhijie, Haddadin, Mary, Boyar, Fatih Z, Anguiano, Arturo, Strom, Charles M, Sahoo, Trilochan
Publicado no Eur J Hum Genet (2015)

POGZ truncating alleles cause syndromic intellectual disability

Por White, Janson, Beck, Christine R., Harel, Tamar, Posey, Jennifer E., Jhangiani, Shalini N., Tang, Sha, Farwell, Kelly D., Powis, Zöe, Mendelsohn, Nancy J., Baker, Janice A., Pollack, Lynda, Mason, Kati J., Wierenga, Klaas J., Arrington, Daniel K., Hall, Melissa, Psychogios, Apostolos, Fairbrother, Laura, Walkiewicz, Magdalena, Person, Richard E., Niu, Zhiyv, Zhang, Jing, Rosenfeld, Jill A., Muzny, Donna M., Eng, Christine, Beaudet, Arthur L., Lupski, James R., Boerwinkle, Eric, Gibbs, Richard A., Yang, Yaping, Xia, Fan, Sutton, V. Reid
Publicado no Genome Med (2016)

Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

Por Lalani, Seema R., Zhang, Jing, Schaaf, Christian P., Brown, Chester W., Magoulas, Pilar, Tsai, Anne Chun-Hui, El-Gharbawy, Areeg, Wierenga, Klaas J., Bartholomew, Dennis, Fong, Chin-To, Barbaro-Dieber, Tina, Kukolich, Mary K., Burrage, Lindsay C., Austin, Elise, Keller, Kory, Pastore, Matthew, Fernandez, Fabio, Lotze, Timothy, Wilfong, Angus, Purcarin, Gabriela, Zhu, Wenmiao, Craigen, William J., McGuire, Marianne, Jain, Mahim, Cooney, Erin, Azamian, Mahshid, Bainbridge, Matthew N., Muzny, Donna M., Boerwinkle, Eric, Person, Richard E., Niu, Zhiyv, Eng, Christine M., Lupski, James R., Gibbs, Richard A., Beaudet, Arthur L., Yang, Yaping, Wang, Meng C., Xia, Fan
Publicado no Am J Hum Genet (2014)