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

le Karaa, Amel, Stoler, Joan M.
Foilsithe 2013

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

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

Biomarkers of Alcohol Use in Pregnancy

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

FOXE3 plays a significant role in autosomal recessive microphthalmia

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

Pulmonary Vasculopathy Associated with FIGF Gene Mutation

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

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

le 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.
Foilsithe in Am J Med Genet A (2015)

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

le 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.
Foilsithe 2013

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

le 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.
Foilsithe in Am J Hum Genet (2015)

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

le 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
Foilsithe 2010

Copy number variation plays an important role in clinical epilepsy

le Olson, Heather, Shen, Yiping, Avallone, Jennifer, Sheidley, Beth R., Pinsky, Rebecca, Bergin, Ann M., Berry, Gerard T., Duffy, Frank H., Eksioglu, Yaman, Harris, David J., Hisama, Fuki M., Ho, Eugenia, Irons, Mira, Jacobsen, Christina M., James, Philip, Kothare, Sanjeev, Khwaja, Omar, Lipton, Jonathan, Loddenkemper, Tobias, Markowitz, Jennifer, Maski, Kiran, Megerian, J. Thomas, Neilan, Edward, Raffalli, Peter C., Robbins, Michael, Roberts, Amy, Roe, Eugene, Rollins, Caitlin, Sahin, Mustafa, Sarco, Dean, Schonwald, Alison, Smith, Sharon E., Soul, Janet, Stoler, Joan M., Takeoka, Masanori, Tan, Wen-Han, Torres, Alcy R., Tsai, Peter, Urion, David K., Weissman, Laura, Wolff, Robert, Wu, Bai-Lin, Miller, David T., Poduri, Annapurna
Foilsithe in Ann Neurol (2014)

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery

le Haghighi, Alireza, Krier, Joel B., Toth-Petroczy, Agnes, Cassa, Christopher A., Frank, Natasha Y., Carmichael, Nikkola, Fieg, Elizabeth, Bjonnes, Andrew, Mohanty, Anwoy, Briere, Lauren C., Lincoln, Sharyn, Lucia, Stephanie, Gupta, Vandana A., Söylemez, Onuralp, Sutti, Sheila, Kooshesh, Kameron, Qiu, Haiyan, Fay, Christopher J., Perroni, Victoria, Valerius, Jamie, Hanna, Meredith, Frank, Alexander, Ouahed, Jodie, Snapper, Scott B., Pantazi, Angeliki, Chopra, Sameer S., Leshchiner, Ignaty, Stitziel, Nathan O., Feldweg, Anna, Mannstadt, Michael, Loscalzo, Joseph, Sweetser, David A., Liao, Eric, Stoler, Joan M., Nowak, Catherine B., Sanchez-Lara, Pedro A., Klein, Ophir D., Perry, Hazel, Patsopoulos, Nikolaos A., Raychaudhuri, Soumya, Goessling, Wolfram, Green, Robert C., Seidman, Christine E., MacRae, Calum A., Sunyaev, Shamil R., Maas, Richard L., Vuzman, Dana
Foilsithe in NPJ Genom Med (2018)

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

le Johnston, Jennifer J., Olivos-Glander, Isabelle, Killoran, Christina, Elson, Emma, Turner, Joyce T., Peters, Kathryn F., Abbott, Margaret H., Aughton, David J., Aylsworth, Arthur S., Bamshad, Michael J., Booth, Carol, Curry, Cynthia J., David, Albert, Dinulos, Mary Beth, Flannery, David B., Fox, Michelle A., Graham, John M., Grange, Dorothy K., Guttmacher, Alan E., Hannibal, Mark C., Henn, Wolfram, Hennekam, Raoul C. M., Holmes, Lewis B., Hoyme, H. Eugene, Leppig, Kathleen A., Lin, Angela E., MacLeod, Patrick, Manchester, David K., Marcelis, Carlo, Mazzanti, Laura, McCann, Emma, McDonald, Marie T., Mendelsohn, Nancy J., Moeschler, John B., Moghaddam, Billur, Neri, Giovanni, Newbury-Ecob, Ruth, Pagon, Roberta A., Phillips, John A., Sadler, Laurie S., Stoler, Joan M., Tilstra, David, Walsh Vockley, Catherine M., Zackai, Elaine H., Zadeh, Touran M., Brueton, Louise, Black, Graeme Charles M., Biesecker, Leslie G.
Foilsithe 2005

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

le Depienne, Christel, Nava, Caroline, Keren, Boris, Heide, Solveig, Rastetter, Agnès, Passemard, Sandrine, Chantot-Bastaraud, Sandra, Moutard, Marie-Laure, Agrawal, Pankaj B., VanNoy, Grace, Stoler, Joan M., Amor, David J., Billette de Villemeur, Thierry, Doummar, Diane, Alby, Caroline, Cormier-Daire, Valérie, Garel, Catherine, Marzin, Pauline, Scheidecker, Sophie, de Saint-Martin, Anne, Hirsch, Edouard, Korff, Christian, Bottani, Armand, Faivre, Laurence, Verloes, Alain, Orzechowski, Christine, Burglen, Lydie, Leheup, Bruno, Roume, Joelle, Andrieux, Joris, Sheth, Frenny, Datar, Chaitanya, Parker, Michael J., Pasquier, Laurent, Odent, Sylvie, Naudion, Sophie, Delrue, Marie-Ange, Le Caignec, Cédric, Vincent, Marie, Isidor, Bertrand, Renaldo, Florence, Stewart, Fiona, Toutain, Annick, Koehler, Udo, Häckl, Birgit, von Stülpnagel, Celina, Kluger, Gerhard, Møller, Rikke S., Pal, Deb, Jonson, Tord, Soller, Maria, Verbeek, Nienke E., van Haelst, Mieke M., de Kovel, Carolien, Koeleman, Bobby, Monroe, Glen, van Haaften, Gijs, Attié-Bitach, Tania, Boutaud, Lucile, Héron, Delphine, Mignot, Cyril
Foilsithe in Hum Genet (2017)

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

le Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Mariëlle, Altmüller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coëslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M., Tang, Sha, Tartaglia, Marco, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe, Bhoj, Elizabeth
Foilsithe in Eur J Hum Genet (2020)