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 2013

The first case of deafness‐dystonia syndrome due to compound heterozygous variants in FITM2

por Shakir, Aamina, Wadley, Alexandrea F., Purcarin, Gabriela, Wierenga, Klaas J.
Publicado 2018

Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants

por Muthusamy, Karthik, Ferrer, Alejandro, Klee, Eric W., Wierenga, Klaas J., Gavrilova, Ralitza H.
Publicado 2021

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 2013

Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndrome

por Macke, Erica L., Morales‐Rosado, Joel A., Macklin‐Mantia, Sarah K., Schmitz, Christopher T., Oskarsson, Björn, Klee, Eric W., Wierenga, Klaas J.
Publicado 2022

Statistical Mechanics Metrics in Pairing and Parsing In Silico and Phenotypic Data of a Novel Genetic NFκB1 (c.T638A) Variant

por Chaudhri, Eman N., Abbott, Jessica M., Islam, Naeyma N., Weber, Caleb A., Coban, Mathew A., Bilgili, Ahmet, Squire, Jacqueline D., Mantia, Sarah, Wierenga, Klaas J., Caulfield, Thomas R.
Publicado 2023

Dominant collagen XII mutations cause a distal myopathy

por Mohassel, Payam, Liewluck, Teerin, Hu, Ying, Ezzo, Daniel, Ogata, Tracy, Saade, Dimah, Neuhaus, Sarah, Bolduc, Véronique, Zou, Yaqun, Donkervoort, Sandra, Medne, Livija, Sumner, Charlotte J., Dyck, P. James B., Wierenga, Klaas J., Tennekoon, Gihan, Finkel, Richard S., Chen, Jiani, Winder, Thomas L., Staff, Nathan P., Foley, A. Reghan, Koch, Manuel, Bönnemann, Carsten G.
Publicado 2019

Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

por Nizon, Mathilde, Laugel, Vincent, Flanigan, Kevin M., Pastore, Matthew, Waldrop, Megan A., Rosenfeld, Jill A., Marom, Ronit, Xiao, Rui, Gerard, Amanda, Pichon, Olivier, Caignec, Cédric Le, Gérard, Marion, Dieterich, Klaus, Cho, Megan Truitt, McWalter, Kirsty, Hiatt, Susan, Thompson, Michelle L., Bézieau, Stéphane, Wadley, Alexandrea, Wierenga, Klaas J., Egly, Jean-Marc, Isidor, Bertrand
Publicado 2019

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

por Luo, Xi, Rosenfeld, Jill A., Yamamoto, Shinya, Harel, Tamar, Zuo, Zhongyuan, Hall, Melissa, Wierenga, Klaas J., Pastore, Matthew T., Bartholomew, Dennis, Delgado, Mauricio R., Rotenberg, Joshua, Lewis, Richard Alan, Emrick, Lisa, Bacino, Carlos A., Eldomery, Mohammad K., Coban Akdemir, Zeynep, Xia, Fan, Yang, Yaping, Lalani, Seema R., Lotze, Timothy, Lupski, James R., Lee, Brendan, Bellen, Hugo J., Wangler, Michael F.
Publicado 2017

Urine levels of the polyglutamine ataxin-3 protein are elevated in patients with spinocerebellar ataxia type 3

por Koike, Yuka, Jansen-West, Karen R., AL-Shaikh, Rana Hanna, Carlomagno, Yari, Song, Yuping, Dunmore, Judith A., LeDoux, Mark S., Friedman, Joseph H., Pena, Ashley B., Uitti, Ryan J., Zaremba, Jacek, van Gerpen, Jay A., Pfeiffer, Ronald F., Veerappan, Venka, Aiba, Ikuko, Hashimoto, Rina, Giles, Samuel S., Shah, Jaimin S., Tipton, Philip W., Huang, Josephine F., Wierenga, Klaas J., Aasly, Jan, Fryer, John D., Petrucelli, Leonard, Wszolek, Zbigniew K., Prudencio, Mercedes
Publicado 2021

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 2016

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

por Minatogawa, Mari, Unzaki, Ai, Morisaki, Hiroko, Syx, Delfien, Sonoda, Tohru, Janecke, Andreas R, Slavotinek, Anne, Voermans, Nicol C, Lacassie, Yves, Mendoza-Londono, Roberto, Wierenga, Klaas J, Jayakar, Parul, Gahl, William A, Tifft, Cynthia J, Figuera, Luis E, Hilhorst-Hofstee, Yvonne, Maugeri, Alessandra, Ishikawa, Ken, Kobayashi, Tomoko, Aoki, Yoko, Ohura, Toshihiro, Kawame, Hiroshi, Kono, Michihiro, Mochida, Kosuke, Tokorodani, Chiho, Kikkawa, Kiyoshi, Morisaki, Takayuki, Kobayashi, Tetsuyuki, Nakane, Takaya, Kubo, Akiharu, Ranells, Judith D, Migita, Ohsuke, Sobey, Glenda, Kaur, Anupriya, Ishikawa, Masumi, Yamaguchi, Tomomi, Matsumoto, Naomichi, Malfait, Fransiska, Miyake, Noriko, Kosho, Tomoki
Publicado 2022

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith...

por Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A., Suri, Mohnish, Lewis, Andrea M., Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O., Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T., Graham, Brett, Harris, Jill M., Gibson, James B., Pastore, Matthew, McBride, Kim L., Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A., Wierenga, Klaas J., Scott, Daryl A., Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Holder, J. Lloyd, Burrage, Lindsay C., Seaver, Laurie H., Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S., Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K., Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M., Gibbs, Richard A., Elsea, Sarah H., Posey, Jennifer E., Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M., Lupski, James R., Liu, Pengfei
Publicado 2019

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with simila...

por Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A., Suri, Mohnish, Lewis, Andrea M., Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O., Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T., Graham, Brett, Harris, Jill M., Gibson, James B., Pastore, Matthew, McBride, Kim L., Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A., Wierenga, Klaas J., Scott, Daryl A., Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Lloyd Holder Jr, J., Burrage, Lindsay C., Seaver, Laurie H., Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S., Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K., Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M., Gibbs, Richard A., Elsea, Sarah H., Posey, Jennifer E., Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M., Lupski, James R., Liu, Pengfei
Publicado 2019

PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

por Johannesen, Katrine M., Gardella, Elena, Gjerulfsen, Cathrine E., Bayat, Allan, Rouhl, Rob P.W., Reijnders, Margot, Whalen, Sandra, Keren, Boris, Buratti, Julien, Courtin, Thomas, Wierenga, Klaas J., Isidor, Bertrand, Piton, Amélie, Faivre, Laurence, Garde, Aurore, Moutton, Sébastien, Tran-Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Coubes, Christine, Larson, Austin, Esser, Michael J., Appendino, Juan Pablo, Al-Hertani, Walla, Gamboni, Beatriz, Mampel, Alejandra, Mayorga, Lía, Orsini, Alessandro, Bonuccelli, Alice, Suppiej, Agnese, Van-Gils, Julien, Vogt, Julie, Damioli, Simona, Giordano, Lucio, Moortgat, Stephanie, Wirrell, Elaine, Hicks, Sarah, Kini, Usha, Noble, Nathan, Stewart, Helen, Asakar, Shailesh, Cohen, Julie S., Naidu, SakkuBai R., Collier, Ashley, Brilstra, Eva H., Li, Mindy H., Brew, Casey, Bigoni, Stefania, Ognibene, Davide, Ballardini, Elisa, Ruivenkamp, Claudia, Faggioli, Raffaella, Afenjar, Alexandra, Rodriguez, Diana, Bick, David, Segal, Devorah, Coman, David, Gunning, Boudewijn, Devinsky, Orrin, Demmer, Laurie A., Grebe, Theresa, Pruna, Dario, Cursio, Ida, Greenhalgh, Lynn, Graziano, Claudio, Singh, Rahul Raman, Cantalupo, Gaetano, Willems, Marjolaine, Yoganathan, Sangeetha, Góes, Fernanda, Leventer, Richard J., Colavito, Davide, Olivotto, Sara, Scelsa, Barbara, Andrade, Andrea V., Ratke, Kelly, Tokarz, Farha, Khan, Atiya S., Ormieres, Clothilde, Benko, William, Keough, Karen, Keros, Sotirios, Hussain, Shanawaz, Franques, Ashlea, Varsalone, Felicia, Grønborg, Sabine, Mignot, Cyril, Heron, Delphine, Nava, Caroline, Isapof, Arnaud, Borlot, Felippe, Whitney, Robyn, Ronan, Anne, Foulds, Nicola, Somorai, Marta, Brandsema, John, Helbig, Katherine L., Helbig, Ingo, Ortiz-González, Xilma R., Dubbs, Holly, Vitobello, Antonio, Anderson, Mel, Spadafore, Dominic, Hunt, David, Møller, Rikke S., Rubboli, Guido
Publicado 2021

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

por Bryant, Laura, Li, Dong, Cox, Samuel G., Marchione, Dylan, Joiner, Evan F., Wilson, Khadija, Janssen, Kevin, Lee, Pearl, March, Michael E., Nair, Divya, Sherr, Elliott, Fregeau, Brieana, Wierenga, Klaas J., Wadley, Alexandrea, Mancini, Grazia M. S., Powell-Hamilton, Nina, van de Kamp, Jiddeke, Grebe, Theresa, Dean, John, Ross, Alison, Crawford, Heather P., Powis, Zoe, Cho, Megan T., Willing, Marcia C., Manwaring, Linda, Schot, Rachel, Nava, Caroline, Afenjar, Alexandra, Lessel, Davor, Wagner, Matias, Klopstock, Thomas, Winkelmann, Juliane, Catarino, Claudia B., Retterer, Kyle, Schuette, Jane L., Innis, Jeffrey W., Pizzino, Amy, Lüttgen, Sabine, Denecke, Jonas, Strom, Tim M., Monaghan, Kristin G., Yuan, Zuo-Fei, Dubbs, Holly, Bend, Renee, Lee, Jennifer A., Lyons, Michael J., Hoefele, Julia, Günthner, Roman, Reutter, Heiko, Keren, Boris, Radtke, Kelly, Sherbini, Omar, Mrokse, Cameron, Helbig, Katherine L., Odent, Sylvie, Cogne, Benjamin, Mercier, Sandra, Bezieau, Stephane, Besnard, Thomas, Kury, Sebastien, Redon, Richard, Reinson, Karit, Wojcik, Monica H., Õunap, Katrin, Ilves, Pilvi, Innes, A. Micheil, Kernohan, Kristin D., Costain, Gregory, Meyn, M. Stephen, Chitayat, David, Zackai, Elaine, Lehman, Anna, Kitson, Hilary, Martin, Martin G., Martinez-Agosto, Julian A., Nelson, Stan F., Palmer, Christina G. S., Papp, Jeanette C., Parker, Neil H., Sinsheimer, Janet S., Vilain, Eric, Wan, Jijun, Yoon, Amanda J., Zheng, Allison, Brimble, Elise, Ferrero, Giovanni Battista, Radio, Francesca Clementina, Carli, Diana, Barresi, Sabina, Brusco, Alfredo, Tartaglia, Marco, Thomas, Jennifer Muncy, Umana, Luis, Weiss, Marjan M., Gotway, Garrett, Stuurman, K. E., Thompson, Michelle L., McWalter, Kirsty, Stumpel, Constance T. R. M., Stevens, Servi J. C., Stegmann, Alexander P. A., Tveten, Kristian, Vøllo, Arve, Prescott, Trine, Fagerberg, Christina, Laulund, Lone Walentin, Larsen, Martin J., Byler, Melissa, Lebel, Robert Roger, Hurst, Anna C., Dean, Joy, Schrier Vergano, Samantha A., Norman, Jennifer, Mercimek-Andrews, Saadet, Neira, Juanita, Van Allen, Margot I., Longo, Nicola, Sellars, Elizabeth, Louie, Raymond J., Cathey, Sara S., Brokamp, Elly, Heron, Delphine, Snyder, Molly, Vanderver, Adeline, Simon, Celeste, de la Cruz, Xavier, Padilla, Natália, Crump, J. Gage, Chung, Wendy, Garcia, Benjamin, Hakonarson, Hakon H., Bhoj, Elizabeth J.
Publicado 2020