Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings

Por De Castro, Mauricio, Zand, Dina J., Lichter-Konecki, Uta, Kirmse, Brian
Publicado no JIMD Rep (2015)

An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine

Por Guillen Sacoto, Maria J., Chapman, Kimberly A., Heath, Deneen, Seprish, Mary Beth, Zand, Dina J.
Publicado no Mol Genet Metab Rep (2015)

Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy

Por Kruszka, Paul S., Kirmse, Brian, Zand, Dina J., Cusmano-Ozog, Kristina, Spector, Elaine, Van Hove, Johan L., Chapman, Kimberly A.
Publicado no Mol Genet Metab Rep (2014)

Expanding the SHOC2 Mutation Associated Phenotype of Noonan Syndrome with Loose Anagen Hair: Structural Brain Anomalies and Myelofibrosis

Por Gripp, Karen W., Zand, Dina J., Demmer, Laurie, Anderson, Carol E., Dobyns, William B., Zackai, Elaine H., Denenberg, Elizabeth, Jenny, Kim, Stabley, Deborah L., Sol-Church, Katia
Publicado em 2013

Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

Por Fraser, Jamie L., Vanderver, Adeline, Yang, Sandra, Chang, Taeun, Cramp, Laura, Vezina, Gilbert, Lichter-Konecki, Uta, Cusmano-Ozog, Kristina P., Smpokou, Patroula, Chapman, Kimberly A., Zand, Dina J.
Publicado no Mol Genet Metab Rep (2014)

Handheld Optical Coherence Tomography During Sedation in Young Children With Optic Pathway Gliomas

Por Avery, Robert A., Hwang, Eugene I., Ishikawa, Hiroshi, Acosta, Maria T., Hutcheson, Kelly A., Santos, Domiciano, Zand, Dina J., Kilburn, Lindsay B., Rosenbaum, Kenneth N., Rood, Brian R., Schuman, Joel S., Packer, Roger J.
Publicado no JAMA Ophthalmol (2014)

Complex Management of a Patient with a Contiguous Xp11.4 Gene Deletion Involving Ornithine Transcarbamylase: A Role for Detailed Molecular Analysis in Complex Presentations of Clas...

Por Deardorff, Matthew A., Gaddipati, Himabindu, Kaplan, Paige, Sanchez-Lara, Pedro A., Sondheimer, Neal, Spinner, Nancy B., Hakonarson, Hakon, Ficicioglu, Can, Ganesh, Jaya, Markello, Thomas, Loechelt, Brett, Zand, Dina J., Yudkoff, Marc, Lichter-Konecki, Uta
Publicado em 2008

Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness

Por George, Aman, Zand, Dina J., Hufnagel, Robert B., Sharma, Ruchi, Sergeev, Yuri V., Legare, Janet M., Rice, Gregory M., Scott Schwoerer, Jessica A., Rius, Mariana, Tetri, Laura, Gamm, David M., Bharti, Kapil, Brooks, Brian P.
Publicado no Am J Hum Genet (2016)

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27 and 21q2

Por Dobyns, William B., Mirzaa, Ghayda, Christian, Susan L., Petras, Kristin, Roseberry, Jessica, Clark, Gary D., Curry, Cynthia J.R., McDonald-McGinn, Donna, Medne, Livija, Zackai, Elaine, Parsons, Julie, Zand, Dina J., Hisama, Fuki M., Walsh, Christopher A., Leventer, Richard J., Martin, Christa L., Gajecka, Marzena, Shaffer, Lisa G.
Publicado em 2008

Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis

Por Martignetti, John A., Tian, Lifeng, Li, Dong, Ramirez, Maria Celeste M., Camacho-Vanegas, Olga, Camacho, Sandra Catalina, Guo, Yiran, Zand, Dina J., Bernstein, Audrey M., Masur, Sandra K., Kim, Cecilia E., Otieno, Frederick G., Hou, Cuiping, Abdel-Magid, Nada, Tweddale, Ben, Metry, Denise, Fournet, Jean-Christophe, Papp, Eniko, McPherson, Elizabeth W., Zabel, Carrie, Vaksmann, Guy, Morisot, Cyril, Keating, Brendan, Sleiman, Patrick M., Cleveland, Jeffrey A., Everman, David B., Zackai, Elaine, Hakonarson, Hakon
Publicado em 2013

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Por Curry, Cynthia J, Rosenfeld, Jill A, Grant, Erica, Gripp, Karen W, Anderson, Carol, Aylsworth, Arthur S, Ben Saad, Taha, 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 JM, 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
Publicado no Am J Med Genet A (2013)