Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about

door Karaa, Amel, Stoler, Joan M.
Gepubliceerd in 2013

Updating the neurodevelopmental profile of Alazami syndrome: illustrating the role of developmental assessment in rare genetic disorders

door Wojcik, Monica H, Linnea, Kate, Stoler, Joan M, Rappaport, Leonard
Gepubliceerd in Am J Med Genet A (2019)

Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder

door Dauber, Andrew, Stoler, Joan, Hechter, Eliana, Safer, Jason, Hirschhorn, Joel N
Gepubliceerd in 2012

Biomarkers of Alcohol Use in Pregnancy

door Bearer, Cynthia F., Stoler, Joan M., Cook, Janine D., Carpenter, Siri J.
Gepubliceerd in Alcohol Res Health (2004)

Redefining the Progeroid Form of Ehlers-Danlos Syndrome: Report of the Fourth Patient with B4GALT7 Deficiency and Review of the Literature

door Guo, Michael H., Stoler, Joan, Lui, Julian, Nilsson, Ola, Bianchi, Diana W., Hirschhorn, Joel N., Dauber, Andrew
Gepubliceerd in 2013

FOXE3 plays a significant role in autosomal recessive microphthalmia

door Reis, Linda M., Tyler, Rebecca C., Schneider, Adele, Bardakjian, Tanya, Stoler, Joan M., Melancon, Serge B., Semina, Elena V.
Gepubliceerd in 2010

Pulmonary Vasculopathy Associated with FIGF Gene Mutation

door Bailey, Evan, Cui, Ye, Casey, Alicia, Stoler, Joan M., Ai, Xingbin, Ma, Dongdong, Handin, Robert, Sliz, Piotr, Vargas, Sara O., El-Chemaly, Souheil Y.
Gepubliceerd in Am J Pathol (2017)

ALX4 gain-of-function mutations in non-syndromic craniosynostosis

door 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.
Gepubliceerd in 2012

Novel Loss-of-Function Variants in DIAPH1 Associated With Syndromic Microcephaly, Blindness, and Early Onset Seizures

door 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.
Gepubliceerd in Am J Med Genet A (2015)

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield

door 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
Gepubliceerd in BMC Genomics (2014)

A Functional Mutation in the Terminal Exon of Elastin in Severe, Early-Onset Chronic Obstructive Pulmonary Disease

door 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.
Gepubliceerd in 2005

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

door 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.
Gepubliceerd in 2013

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

door 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.
Gepubliceerd in Genet Med (2019)

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

door 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.
Gepubliceerd in Cold Spring Harb Mol Case Stud (2015)

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

door 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.
Gepubliceerd in Am J Hum Genet (2015)

Yield of Whole Exome Sequencing in Undiagnosed Patients Facing Insurance Coverage Barriers to Genetic Testing

door 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.
Gepubliceerd in J Genet Couns (2019)

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

door 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
Gepubliceerd in 2008

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects

door 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.
Gepubliceerd in Am J Hum Genet (2020)

Deletions of NRXN1 (Neurexin-1) Predispose to a Wide Spectrum of Developmental Disorders

door 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
Gepubliceerd in 2010

A genome-wide association study identifies susceptibility loci for non-syndromic sagittal craniosynostosis near BMP2 and within BBS9

door Justice, Cristina M., Yagnik, Garima, Kim, Yoonhee, Peter, Inga, Jabs, Ethylin Wang, Erazo, Monica, Ye, Xiaoqian, Ainehsazan, Edmond, Shi, Lisong, Cunningham, Michael L., Kimonis, Virginia, Roscioli, Tony, Wall, Steven A., Wilkie, Andrew O.M., Stoler, Joan, Richtsmeier, Joan T., Heuzé, Yann, Sanchez-Lara, Pedro A., Buckley, Michael F., Druschel, Charlotte M., Mills, James L., Caggana, Michele, Romitti, Paul A., Kay, Denise M., Senders, Craig, Taub, Peter J., Klein, Ophir D., Boggan, James, Zwienenberg-Lee, Marike, Naydenov, Cyril, Kim, Jinoh, Wilson, Alexander F., Boyadjiev, Simeon A.
Gepubliceerd in 2012