Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency—Lessons learned
Lin, Hsin-Ti, Enchautegui-Colon, Yazmin, Huang, Yu-Ren, Zimmerman, Chelsea, DeMarzo, Danielle, Tsai, Anne Chun-Hui
Published in Molecular genetics and metabolism reports (01.12.2022)
Published in Molecular genetics and metabolism reports (01.12.2022)
Get full text
Journal Article
Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome
Chiang, Pei-Wen, Lee, Ni-Chung, Chien, Nancy, Hwu, Wuh-Liang, Spector, Elaine, Tsai, Anne Chun-Hui
Published in American journal of medical genetics. Part A (01.07.2009)
Published in American journal of medical genetics. Part A (01.07.2009)
Get full text
Journal Article
Chinese hamster ovary cell-derived recombinant human acid α-glucosidase in infantile-onset Pompe disease
Kishnani, Priya Sunil, Nicolino, Marc, Voit, Thomas, Rogers, R. Curtis, Tsai, Anne Chun-Hui, Waterson, John, Herman, Gail E., Amalfitano, Andreas, Thurberg, Beth L., Richards, Susan, Davison, Mark, Corzo, Deyanira, Chen, Y.T.
Published in The Journal of pediatrics (01.07.2006)
Published in The Journal of pediatrics (01.07.2006)
Get full text
Journal Article
Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease
Thurberg, Beth L, Lynch Maloney, Colleen, Vaccaro, Charles, Afonso, Kendra, Tsai, Anne Chun-Hui, Bossen, Edward, Kishnani, Priya S, O'Callaghan, Michael
Published in Laboratory investigation (01.12.2006)
Published in Laboratory investigation (01.12.2006)
Get full text
Journal Article
Phenotypic spectrum and genotype―phenotype correlations of NRXN1 exon deletions
SCHAAF, Christian P, BOONE, Philip M, TARTAGLIA, Nicole R, EVANS, Patricia, CAMPBELL, William M, TSAI, Anne Chun-Hui, PARSLEY, Lea, GRAYSON, Stephanie W, SCHEUERLE, Angela, LUZZI, Carol D, THOMAS, Sandra K, ENG, Patricia A, SAMPATH, Srirangan, KANG, Sung-Hae L, PATEL, Ankita, STANKIEWICZ, Pawel, CHEUNG, Sau W, WILLIAMS, Charles, BADER, Patricia I, MUELLER, Jennifer M, SHCHELOCHKOV, Oleg A, BROWN, Chester W, CRAWFORD, Heather P, PHALEN, James A
Published in European journal of human genetics : EJHG (01.12.2012)
Published in European journal of human genetics : EJHG (01.12.2012)
Get full text
Journal Article
Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease
Tsai, Anne Chun‐Hui, Hung, Yu‐Wen, Harding, Cary, Koeller, David M., Wang, Jing, Wong, Lee‐Jun C.
Published in American journal of medical genetics. Part A (01.09.2017)
Published in American journal of medical genetics. Part A (01.09.2017)
Get full text
Journal Article
Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia
Tsai, Anne Chun-Hui, Lin, Hsin-Ti, Chou, Maxwell, Bolen, Jessica, Zimmerman, Chelsea, DeMarzo, Danielle, Enchautegui-Colon, Yazmin
Published in Molecular genetics and metabolism reports (01.06.2022)
Published in Molecular genetics and metabolism reports (01.06.2022)
Get full text
Journal Article
The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes
Curry, Cynthia J., Rosenfeld, Jill A., Grant, Erica, Gripp, Karen W., Anderson, Carol, Aylsworth, Arthur S., Saad, Taha Ben, Chizhikov, Victor V., Dybose, Giedre, Fagerberg, Christina, Falco, Michelle, Fels, Christina, Fichera, Marco, Graakjaer, Jesper, Greco, Donatella, Hair, Jennifer, Hopkins, Elizabeth, Huggins, Marlene, Ladda, Roger, Li, Chumei, Moeschler, John, Nowaczyk, Malgorzata J.M., Ozmore, Jillian R., Reitano, Santina, Romano, Corrado, Roos, Laura, Schnur, Rhonda E., Sell, Susan, Suwannarat, Pim, Svaneby, Dea, Szybowska, Marta, Tarnopolsky, Mark, Tervo, Raymond, Tsai, Anne Chun-Hui, Tucker, Megan, Vallee, Stephanie, Wheeler, Ferrin C, Zand, Dina J., Barkovich, A. James, Aradhya, Swaroop, Shaffer, Lisa G., Dobyns, William B.
Published in American journal of medical genetics. Part A (01.08.2013)
Published in American journal of medical genetics. Part A (01.08.2013)
Get full text
Journal Article
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology
Sobering, Andrew K., Bryant, Laura M., Li, Dong, McGaughran, Julie, Maystadt, Isabelle, Moortgat, Stephanie, Graham, John M., van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Vogt, Julie, Morton, Jenny, Brasch-Andersen, Charlotte, Steenhof, Maria, Hansen, Lars Kjærsgaard, Adler, Élodie, Lyonnet, Stanislas, Pingault, Veronique, Sandrine, Marlin, Ziegler, Alban, Donald, Tyhiesia, Nelson, Beverly, Holt, Brandon, Petryna, Oleksandra, Firth, Helen, McWalter, Kirsty, Zyskind, Jacob, Telegrafi, Aida, Juusola, Jane, Person, Richard, Bamshad, Michael J., Earl, Dawn, Tsai, Anne Chun-Hui, Yearwood, Katherine R., Marco, Elysa, Nowak, Catherine, Douglas, Jessica, Hakonarson, Hakon, Bhoj, Elizabeth J.
Published in HGG advances (14.07.2022)
Published in HGG advances (14.07.2022)
Get full text
Journal Article
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology
Sobering, Andrew K., Bryant, Laura M., Li, Dong, McGaughran, Julie, Maystadt, Isabelle, Moortgat, Stephanie, Graham, John M., van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Vogt, Julie, Morton, Jenny, Brasch-Andersen, Charlotte, Steenhof, Maria, Hansen, Lars Kjærsgaard, Adler, Élodie, Lyonnet, Stanislas, Pingault, Veronique, Sandrine, Marlin, Ziegler, Alban, Donald, Tyhiesia, Nelson, Beverly, Holt, Brandon, Petryna, Oleksandra, Firth, Helen, McWalter, Kirsty, Zyskind, Jacob, Telegrafi, Aida, Juusola, Jane, Person, Richard, Bamshad, Michael J., Earl, Dawn, Chun-Hui Tsai, Anne, Yearwood, Katherine R., Marco, Elysa, Nowak, Catherine, Douglas, Jessica, Hakonarson, Hakon, Bhoj, Elizabeth J.
Published in HGG advances (12.01.2023)
Published in HGG advances (12.01.2023)
Get full text
Journal Article
Oculocutaneous albinism spectrum
Chiang, Pei-Wen, Spector, Elaine, Tsai, Anne Chun-Hui
Published in American journal of medical genetics. Part A (01.07.2009)
Published in American journal of medical genetics. Part A (01.07.2009)
Get full text
Journal Article
Late‐onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance
Tsai, Anne Chun‐Hui, Morel, Chantal F., Scharer, Gunter, Yang, Michael, Lerner‐Ellis, Jordan P., Rosenblatt, David S., Thomas, Janet A.
Published in American journal of medical genetics. Part A (15.10.2007)
Published in American journal of medical genetics. Part A (15.10.2007)
Get full text
Journal Article
Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability
Malinowski, Jennifer, Miller, David T, Demmer, Laurie, Gannon, Jennifer, Pereira, Elaine Maria, Schroeder, Molly C, Scheuner, Maren T, Tsai, Anne Chun-Hui, Hickey, Scott E, Shen, Jun
Published in Genetics in medicine (01.06.2020)
Published in Genetics in medicine (01.06.2020)
Get full text
Journal Article
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway
Karolak, Justyna A., Vincent, Marie, Deutsch, Gail, Gambin, Tomasz, Cogné, Benjamin, Pichon, Olivier, Vetrini, Francesco, Mefford, Heather C., Dines, Jennifer N., Golden-Grant, Katie, Dipple, Katrina, Freed, Amanda S., Leppig, Kathleen A., Dishop, Megan, Mowat, David, Bennetts, Bruce, Gifford, Andrew J., Weber, Martin A., Lee, Anna F., Boerkoel, Cornelius F., Bartell, Tina M., Ward-Melver, Catherine, Besnard, Thomas, Petit, Florence, Bache, Iben, Tümer, Zeynep, Denis-Musquer, Marie, Joubert, Madeleine, Martinovic, Jelena, Bénéteau, Claire, Molin, Arnaud, Carles, Dominique, André, Gwenaelle, Bieth, Eric, Chassaing, Nicolas, Devisme, Louise, Chalabreysse, Lara, Pasquier, Laurent, Secq, Véronique, Don, Massimiliano, Orsaria, Maria, Missirian, Chantal, Mortreux, Jérémie, Sanlaville, Damien, Pons, Linda, Küry, Sébastien, Bézieau, Stéphane, Liet, Jean-Michel, Joram, Nicolas, Bihouée, Tiphaine, Scott, Daryl A., Brown, Chester W., Scaglia, Fernando, Tsai, Anne Chun-Hui, Grange, Dorothy K., Phillips, John A., Pfotenhauer, Jean P., Jhangiani, Shalini N., Gonzaga-Jauregui, Claudia G., Chung, Wendy K., Schauer, Galen M., Lipson, Mark H., Mercer, Catherine L., van Haeringen, Arie, Liu, Qian, Popek, Edwina, Coban Akdemir, Zeynep H., Lupski, James R., Szafranski, Przemyslaw, Isidor, Bertrand, Le Caignec, Cedric, Stankiewicz, Paweł
Published in American journal of human genetics (07.02.2019)
Published in American journal of human genetics (07.02.2019)
Get full text
Journal Article
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders
Fischer-Zirnsak, Björn, Segebrecht, Lara, Schubach, Max, Charles, Perrine, Alderman, Emily, Brown, Kathleen, Cadieux-Dion, Maxime, Cartwright, Tracy, Chen, Yanmin, Costin, Carrie, Fehr, Sarah, Fitzgerald, Keely M., Fleming, Emily, Foss, Kimberly, Ha, Thoa, Hildebrand, Gabriele, Horn, Denise, Liu, Shuxi, Marco, Elysa J., McDonald, Marie, McWalter, Kirsty, Race, Simone, Rush, Eric T., Si, Yue, Saunders, Carol, Slavotinek, Anne, Stockler-Ipsiroglu, Sylvia, Telegrafi, Aida, Thiffault, Isabelle, Torti, Erin, Tsai, Anne Chun-hui, Wang, Xin, Zafar, Muhammad, Keren, Boris, Kornak, Uwe, Boerkoel, Cornelius F., Mirzaa, Ghayda, Ehmke, Nadja
Published in American journal of human genetics (05.09.2019)
Published in American journal of human genetics (05.09.2019)
Get full text
Journal Article
A new hypothesis of OCA1B
Chiang, Pei-Wen, Drautz, Joanne M., Tsai, Anne Chun-Hui, Spector, Elaine, Clericuzio, Carol L.
Published in American journal of medical genetics. Part A (15.11.2008)
Published in American journal of medical genetics. Part A (15.11.2008)
Get full text
Journal Article
Identification of a submicroscopic 3.2 Mb chromosomal 16q12.2‐13 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high‐density oligonucleotide array‐a recognizable syndrome
Chang, Ching‐Fen, Li, Ling‐Hui, Wang, Chung‐Hsing, Tsai, Fuu‐Jen, Chen, Tsai‐Chuan, Wu, Jer‐Yuarn, Chen, Yuan‐Tsong, Tsai, Anne Chun‐Hui
Published in American journal of medical genetics. Part A (01.09.2010)
Published in American journal of medical genetics. Part A (01.09.2010)
Get full text
Journal Article
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
KOOLEN, David A, KRAMER, Jamie M, SAU WAI CHEUNG, GILISSEN, Christian, VERWIEL, Eugene T. P, MARTENS, Sarah, FEUTH, Ton, BONGERS, Ernie M. H. F, DE VRIES, Petra, SCHEFFER, Hans, VISSERS, Lisenka E. L. M, DE BROUWER, Arjan P. M, NEVELING, Kornelia, BRUNNER, Han G, VELTMAN, Joris A, SCHENCKL, Annette, YNTEMA, Helgerg, DE VRIES, Bert B. A, NILLESEN, Willy M, MOORE-BARTON, Heather L, ELMSLIE, Frances V, TOUTAIN, Annick, AMIEL, Jeanne, MALAN, Valérie, TSAI, Anne Chun-Hui
Published in Nature genetics (01.06.2012)
Published in Nature genetics (01.06.2012)
Get full text
Journal Article