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

Get full text

Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis by 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

Get full text

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

Get full text

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

Get full text

Digital facial dysmorphology for genetic screening: Hierarchical constrained local model using ICA by Zhao, Qian, Okada, Kazunori, Rosenbaum, Kenneth, Kehoe, Lindsay, Zand, Dina J., Sze, Raymond, Summar, Marshall, Linguraru, Marius George

Get full text

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

Get full text

An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine by Guillen Sacoto, Maria J., Chapman, Kimberly A., Heath, Deneen, Seprish, Mary Beth, Zand, Dina J.

Get full text

Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis by 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

Get full text

Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy by Kruszka, Paul S, Kirmse, Brian, Zand, Dina J, Cusmano-Ozog, Kristina, Spector, Elaine, Van Hove, Johan L, Chapman, Kimberly A

Get full text

Autosomal dominant inheritance of infantile myofibromatosis by Zand, Dina J., Huff, Dale, Everman, David, Russell, Karen, Saitta, Sulagna, McDonald-McGinn, Donna, Zackai, Elaine H.

Get full text

Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15 by Regier, Debra S., Leon, Eyby, Counts, Debra R., Tifft, Cynthia J., Zand, Dina J.

Get full text

Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications by Grams, Sarah E., Argiropoulos, Bob, Lines, Matthew, Chakraborty, Pranesh, Mcgowan-Jordan, Jean, Geraghty, Michael T., Tsang, Marilyn, Eswara, Marthand, Tezcan, Kamer, Adams, Kelly L., Linck, Leesa, Himes, Patricia, Kostiner, Dana, Zand, Dina J., Stalker, Heather, Driscoll, Daniel J., Huang, Taosheng, Rosenfeld, Jill A., Li, Xu, Chen, Emily

Get full text

Effectiveness of a Clinical Pathway for the Emergency Treatment of Patients With Inborn Errors of Metabolism by Zand, Dina J, Brown, Kathleen M, Lichter-Konecki, Uta, Campbell, Joyce K, Salehi, Vesta, Chamberlain, James M

Get full text

Chondrodysplasia punctata associated with maternal autoimmune diseases: Expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and... by Chitayat, David, Keating, Sarah, Zand, Dina J., Costa, Teresa, Zackai, Elaine H., Silverman, Earl, Tiller, George, Unger, Sheila, Miller, Stephen, Kingdom, John, Toi, Ants, Curry, Cynthia J.R.

Get full text

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... by 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

Get full text

Severe Neonatal Holocarboxylase Synthetase Deficiency in West African Siblings by De Castro, Mauricio, Zand, Dina J., Lichter-Konecki, Uta, Kirmse, Brian

Get full text

In Vivo Pyruvate Detected by MR Spectroscopy in Neonatal Pyruvate Dehydrogenase Deficiency by Zand, Dina J, Simon, Erin M, Pulitzer, Steven B, Wang, D.J, Wang, Z.J, Rorke, Lucy B, Palmieri, Michael, Berry, Gerard T

Get full text

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome by Sheppard, Sarah E., Campbell, Ian M., Harr, Margaret H., Gold, Nina, Li, Dong, Bjornsson, Hans T., Cohen, Julie S., Fahrner, Jill A., Fatemi, Ali, Harris, Jacqueline R., Nowak, Catherine, Stevens, Cathy A., Grand, Katheryn, Au, Margaret, Graham, John M., Sanchez‐Lara, Pedro A., Campo, Miguel Del, Jones, Marilyn C., Abdul‐Rahman, Omar, Bassetti, Jennifer A., Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie D., Derar, Nada, Gripp, Karen W., Hauser, Natalie, Innes, A. Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata J., Rahbeeni, Zuhair, Ben‐Shachar, Shay, Shieh, Joseph T., Slavotinek, Anne, Sobering, Andrew K., Abbott, Mary‐Alice, Allain, Dawn C., Amlie‐Wolf, Louise, Au, Ping Yee Billie, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan A., Cytrynbaum, Cheryl, Chung, Brian Hon‐Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores‐Daboub, Josue A., Dubbs, Holly, Felix, Carolyn A., Fong, Chin‐To, Fung, Jasmine Lee Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa K., Hersh, Joseph, Izumi, Kosuke, Kravets, Elijah, Kwok, Pui‐Yan, Jobling, Rebekah K., Knight Johnson, Amy E., Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D. Ross, Mentch, Frank D., Minks, Kelly, Muraresku, Colleen, Nelson, Stanley F., Porazzi, Patrizia, Pichurin, Pavel N., Powell‐Hamilton, Nina N., Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Falk, Marni J., Hakonarson, Hakon, Zackai, Elaine H., Quintero‐Rivera, Fabiola

Get full text

Single-Gene Autosomal Recessive Disorders and Prader-Willi Syndrome: An Update for Food and Nutrition Professionals by Isaacs, Janet Sugarman, PhD, RD, Zand, Dina J., MD

Get full text

Automated down syndrome detection using facial photographs by Qian Zhao, Rosenbaum, Kenneth, Okada, Kazunori, Zand, Dina J., Sze, Raymond, Summar, Marshall, Linguraru, Marius George

Request full text