Search Results - Stoler, Joan

Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about by Karaa, Amel, Stoler, Joan M.

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Updating the neurodevelopmental profile of Alazami syndrome: illustrating the role of developmental assessment in rare genetic disorders by Wojcik, Monica H, Linnea, Kate, Stoler, Joan M, Rappaport, Leonard

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Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder by Dauber, Andrew, Stoler, Joan, Hechter, Eliana, Safer, Jason, Hirschhorn, Joel N

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Biomarkers of Alcohol Use in Pregnancy by Bearer, Cynthia F., Stoler, Joan M., Cook, Janine D., Carpenter, Siri J.

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Redefining the Progeroid Form of Ehlers-Danlos Syndrome: Report of the Fourth Patient with B4GALT7 Deficiency and Review of the Literature by Guo, Michael H., Stoler, Joan, Lui, Julian, Nilsson, Ola, Bianchi, Diana W., Hirschhorn, Joel N., Dauber, Andrew

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FOXE3 plays a significant role in autosomal recessive microphthalmia by Reis, Linda M., Tyler, Rebecca C., Schneider, Adele, Bardakjian, Tanya, Stoler, Joan M., Melancon, Serge B., Semina, Elena V.

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Pulmonary Vasculopathy Associated with FIGF Gene Mutation by Bailey, Evan, Cui, Ye, Casey, Alicia, Stoler, Joan M., Ai, Xingbin, Ma, Dongdong, Handin, Robert, Sliz, Piotr, Vargas, Sara O., El-Chemaly, Souheil Y.

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ALX4 gain-of-function mutations in non-syndromic craniosynostosis by Yagnik, Garima, Ghuman, Apar, Kim, Sundon, Stevens, Cristina G., Kimonis, Virginia, Stoler, Joan, Sanchez-Lara, Pedro, Bernstein, Jonathan, Naydenov, Cyril, Drissi, Hicham, Cunningham, Michael L., Kim, Jinoh, Boyadjiev, Simeon A.

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Novel Loss-of-Function Variants in DIAPH1 Associated With Syndromic Microcephaly, Blindness, and Early Onset Seizures by Al-Maawali, Almundher, Barry, Brenda J., Rajab, Anna, El-Quessny, Malak, Seman, Ann, Coury, Stephanie Newton, Barkovich, A. James, Yang, Edward, Walsh, Christopher A., Mochida, Ganeshwaran H., Stoler, Joan M.

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Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield by Geng, Juan, Picker, Jonathan, Zheng, Zhaojing, Zhang, Xiaoqing, Wang, Jian, Hisama, Fuki, Brown, David W, Mullen, Mary P, Harris, David, Stoler, Joan, Seman, Ann, Miller, David T, Fu, Qihua, Roberts, Amy E, Shen, Yiping

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A Functional Mutation in the Terminal Exon of Elastin in Severe, Early-Onset Chronic Obstructive Pulmonary Disease by Kelleher, Cassandra M., Silverman, Edwin K., Broekelmann, Thomas, Litonjua, Augusto A., Hernandez, Melvin, Sylvia, Jody S., Stoler, Joan, Reilly, John J., Chapman, Harold A., Speizer, Frank E., Weiss, Scott T., Mecham, Robert P., Raby, Benjamin A.

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Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans by Hills, L. Benjamin, Masri, Amira, Konno, Kotaro, Kakegawa, Wataru, Lam, Anh-Thu N., Lim-Melia, Elizabeth, Chandy, Nandini, Hill, R. Sean, Partlow, Jennifer N., Al-Saffar, Muna, Nasir, Ramzi, Stoler, Joan M., Barkovich, A. James, Watanabe, Masahiko, Yuzaki, Michisuke, Mochida, Ganeshwaran H.

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Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield by Gubbels, Cynthia S., VanNoy, Grace E., Madden, Jill A., Copenheaver, Deborah, Yang, Sandra, Wojcik, Monica H., Gold, Nina B., Genetti, Casie A., Stoler, Joan, Parad, Richard B., Roumiantsev, Sergei, Bodamer, Olaf, Beggs, Alan H., Juusola, Jane, Agrawal, Pankaj B., Yu, Timothy W.

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De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay by Yang, Hui, Douglas, Ganka, Monaghan, Kristin G., Retterer, Kyle, Cho, Megan T., Escobar, Luis F., Tucker, Megan E., Stoler, Joan, Rodan, Lance H., Stein, Diane, Marks, Warren, Enns, Gregory M., Platt, Julia, Cox, Rachel, Wheeler, Patricia G., Crain, Carrie, Calhoun, Amy, Tryon, Rebecca, Richard, Gabriele, Vitazka, Patrik, Chung, Wendy K.

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Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination by Nakayama, Tojo, Al-Maawali, Almundher, El-Quessny, Malak, Rajab, Anna, Khalil, Samir, Stoler, Joan M., Tan, Wen-Hann, Nasir, Ramzi, Schmitz-Abe, Klaus, Hill, R. Sean, Partlow, Jennifer N., Al-Saffar, Muna, Servattalab, Sarah, LaCoursiere, Christopher M., Tambunan, Dimira E., Coulter, Michael E., Elhosary, Princess C., Gorski, Grzegorz, Barkovich, A. James, Markianos, Kyriacos, Poduri, Annapurna, Mochida, Ganeshwaran H.

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Yield of Whole Exome Sequencing in Undiagnosed Patients Facing Insurance Coverage Barriers to Genetic Testing by Reuter, Chloe M., Kohler, Jennefer N., Bonner, Devon, Zastrow, Diane, Fernandez, Liliana, Dries, Annika, Marwaha, Shruti, Davidson, Jean, Brokamp, Elly, Herzog, Matthew, Hong, Joyce, Macnamara, Ellen, Rosenfeld, Jill A., Schoch, Kelly, Spillmann, Rebecca, Loscalzo, Joseph, Krier, Joel, Stoler, Joan, Sweetser, David, Palmer, Christina G.S., Phillips, John A, Shashi, Vandana, Adams, David A., Yang, Yaping, Ashley, Euan A., Fisher, Paul G., Mulvihill, John J., Bernstein, Jonathan A., Wheeler, Matthew T.

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Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders by Miller, David T., Shen, Yiping, Weiss, Lauren A., Korn, Joshua, Anselm, Irina, Bridgemohan, Carolyn, Cox, Gerald F., Dickinson, Hope, Gentile, Jennifer, Harris, David J., Hegde, Vijay, Hundley, Rachel, Khwaja, Omar, Kothare, Sanjeev, Luedke, Christina, Nasir, Ramzi, Poduri, Annapurna, Prasad, Kiran, Raffalli, Peter, Reinhard, Ann, Smith, Sharon E., Sobeih, Magdi M., Soul, Janet S., Stoler, Joan, Takeoka, Masanori, Tan, Wen-Hann, Thakuria, Joseph, Wolff, Robert, Yusupov, Roman, Gusella, James F., Daly, Mark J., Wu, Bai-Lin

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Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects by Duncan, Anna R., Vitobello, Antonio, Collins, Stephan C., Vancollie, Valerie E., Lelliott, Christopher J., Rodan, Lance, Shi, Jiahai, Seman, Ann R., Agolini, Emanuele, Novelli, Antonio, Prontera, Paolo, Guillen Sacoto, Maria J., Santiago-Sim, Teresa, Trimouille, Aurélien, Goizet, Cyril, Nizon, Mathilde, Bruel, Ange-Line, Philippe, Christophe, Grant, Patricia E., Wojcik, Monica H., Stoler, Joan, Genetti, Casie A., van Dooren, Marieke F., Maas, Saskia M., Alders, Marielle, Faivre, Laurence, Sorlin, Arthur, Yoon, Grace, Yalcin, Binnaz, Agrawal, Pankaj B.

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Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11 by Ravenscroft, Thomas A., Phillips, Jennifer B., Fieg, Elizabeth, Bajikar, Sameer S., Peirce, Judy, Wegner, Jeremy, Luna, Alia A., Fox, Eric J., Yan, Yi-Lin, Rosenfeld, Jill A., Zirin, Jonathan, Kanca, Oguz, Benke, Paul J., Cameron, Eric S., Strehlow, Vincent, Platzer, Konrad, Jamra, Rami Abou, Klöckner, Chiara, Osmond, Matthew, Licata, Thomas, Rojas, Samantha, Dyment, David, Chong, Josephine S.C., Lincoln, Sharyn, Stoler, Joan M., Postlethwait, John H., Wangler, Michael F., Yamamoto, Shinya, Krier, Joel, Westerfield, Monte, Bellen, Hugo J.

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Deletions of NRXN1 (Neurexin-1) Predispose to a Wide Spectrum of Developmental Disorders by Ching, Michael SL, Shen, Yiping, Tan, Wen-Hann, Jeste, Shafali S, Morrow, Eric M, Chen, Xiaoli, Mukaddes, Nahit M, Yoo, Seung-Yun, Hanson, Ellen, Hundley, Rachel, Austin, Christina, Becker, Ronald E, Berry, Gerard T, Driscoll, Katherine, Engle, Elizabeth C, Friedman, Sandra, Gusella, James F, Hisama, Fuki M, Irons, Mira B, Lafiosca, Tina, LeClair, Elaine, Miller, David T, Neessen, Michael, Picker, Jonathan D, Rappaport, Leonard, Rooney, Cynthia M, Sarco, Dean P, Stoler, Joan M, Walsh, Christopher A, Wolff, Robert R, Zhang, Ting, Nasir, Ramzi H, Wu, Bai-Lin

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