Adenocarcinoma and polyposis of the colon in a 20-year-old patient with Trisomy 13: a case report

بواسطة Thurtle, Danielle P., Huck, Michael B., Zeller, Kristen A., Jewett, Tamison
الحاوية / القاعدة J Med Case Rep (2018)

Fetal Alcohol Spectrum Disorders in a Midwestern City: Child Characteristics, Maternal Risk Traits, and Prevalence

بواسطة May, Philip A., Hasken, Julie, Baete, Amy, Russo, Jaymi, Elliott, Amy J., Kalberg, Wendy O., Buckley, David, Brooks, Marita, Ortega, Marian A., Hedrick, Dixie M., Tabachnick, Barbara G., Abdul-Rahman, Omar, Adam, Margaret P., Jewett, Tamison, Robinson, Luther K., Manning, Melanie, Hoyme, H. Eugene
الحاوية / القاعدة Alcohol Clin Exp Res (2020)

Fetal Alcohol Spectrum Disorders in a Southeastern County of the United States: Child Characteristics and Maternal Risk Traits

بواسطة May, Philip A., Hasken, Julie, Stegall, Julie, Mastro, Heather, Kalberg, Wendy O., Buckley, David, Brooks, Marita, Hedrick, Dixie M., Ortega, Marian A., Elliott, Amy J., Tabachnick, Barbara, Abdul-Rahman, Omar, Adam, Margaret P., Robinson, Luther K., Manning, Melanie A., Jewett, Tamison, Hoyme, H. Eugene
الحاوية / القاعدة Alcohol Clin Exp Res (2020)

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects

بواسطة Seong, Eunju, Insolera, Ryan, Dulovic, Marija, Kamsteeg, Erik-Jan, Trinh, Joanne, Brüggemann, Norbert, Sandford, Erin, Li, Sheng, Ozel, Ayse Bilge, Li, Jun Z., Jewett, Tamison, Kievit, Anneke J.A., Münchau, Alexander, Shakkottai, Vikram, Klein, Christine, Collins, Catherine, Lohmann, Katja, van de Warrenburg, Bart P., Burmeister, Margit
الحاوية / القاعدة Ann Neurol (2018)

Fetal Alcohol Spectrum Disorders in a Rocky Mountain Region City: Child Characteristics, Maternal Risk Traits, and Prevalence

بواسطة May, Philip A., Hasken, Julie M., Bozeman, Rosemary, Jones, Jo-Viviane, Burns, Mary Kay, Goodover, Joelene, Kalberg, Wendy O., Buckley, David, Brooks, Marita, Ortega, Marian A., Elliott, Amy J., Hedrick, Dixie M., Tabachnick, Barbara G., Abdul-Rahman, Omar, Adam, Margaret P., Jewett, Tamison, Robinson, Luther K., Manning, Melanie, Hoyme, H. Eugene
الحاوية / القاعدة Alcohol Clin Exp Res (2020)

Updated Clinical Guidelines for Diagnosing Fetal Alcohol Spectrum Disorders

بواسطة Hoyme, H. Eugene, Kalberg, Wendy O., Elliott, Amy J., Blankenship, Jason, Buckley, David, Marais, Anna-Susan, Manning, Melanie A., Robinson, Luther K., Adam, Margaret P., Abdul-Rahman, Omar, Jewett, Tamison, Coles, Claire D., Chambers, Christina, Jones, Kenneth L., Adnams, Colleen M., Shah, Prachi E., Riley, Edward P., Charness, Michael E., Warren, Kenneth R., May, Philip A.
الحاوية / القاعدة Pediatrics (2016)

Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

بواسطة Cappuccio, Gerarda, Ceccatelli Berti, Camilla, Baruffini, Enrico, Sullivan, Jennifer, Shashi, Vandana, Jewett, Tamison, Stamper, Tara, Maitz, Silvia, Canonico, Francesco, Revah‐Politi, Anya, Kupchik, Gabriel S., Anyane‐Yeboa, Kwame, Aggarwal, Vimla, Benneche, Andreas, Bratland, Eirik, Berland, Siren, D'Arco, Felice, Alves, Cesar A., Vanderver, Adeline, Longo, Daniela, Bertini, Enrico, Torella, Annalaura, Nigro, Vincenzo, D'Amico, Alessandra, van der Knaap, Marjo S., Goffrini, Paola, Brunetti‐Pierri, Nicola
الحاوية / القاعدة Hum Mutat (2021)

SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes

بواسطة Kim, Jung-Hyun, Park, Eun Young, Chitayat, David, Stachura, David L., Schaper, Jörg, Lindstrom, Kristin, Jewett, Tamison, Wieczorek, Dagmar, Draaisma, Jos M., Sinnema, Margje, Hoeberigs, Christianne, Hempel, Maja, Bachman, Kristine K., Seeley, Andrea H., Stone, Joshua K., Kong, Hyun Kyung, Vukadin, Lana, Richard, Alexander, Shinde, Deepali N., McWalter, Kirsty, Si, Yue Cindy, Douglas, Ganka, Lim, Ssang-Taek Steve, Vissers, Lisenka E.L.M., Lemaire, Mathieu, Ahn, Eun-Young Erin
الحاوية / القاعدة Kidney Int (2019)

Prevalence of Fetal Alcohol Spectrum Disorders in 4 US Communities

بواسطة May, Philip A., Chambers, Christina D., Kalberg, Wendy O., Zellner, Jennifer, Feldman, Haruna, Buckley, David, Kopald, David, Hasken, Julie M., Xu, Ronghui, Honerkamp-Smith, Gordon, Taras, Howard, Manning, Melanie A., Robinson, Luther K., Adam, Margaret P., Abdul-Rahman, Omar, Vaux, Keith, Jewett, Tamison, Elliott, Amy J., Kable, Julie A., Akshoomoff, Natacha, Falk, Daniel, Arroyo, Judith A., Hereld, Dale, Riley, Edward P., Charness, Michael E., Coles, Claire D., Warren, Kenneth R., Jones, Kenneth Lyons, Hoyme, H. Eugene
الحاوية / القاعدة JAMA (2018)

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

بواسطة Lenaerts, Lisa, Reynhout, Sara, Verbinnen, Iris, Laumonnier, Frédéric, Toutain, Annick, Bonnet-Brilhault, Frédérique, Hoorne, Yana, Joss, Shelagh, Chassevent, Anna K., Smith-Hicks, Constance, Loeys, Bart, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mehta, Sarju G., Chung, Wendy K., Devriendt, Koenraad, Holder, Susan E., Jewett, Tamison, Baldwin, Lauren M., Wilson, William G., Towner, Shelley, Srivastava, Siddharth, Johnson, Hannah F., Daumer-Haas, Cornelia, Baethmann, Martina, Ruiz, Anna, Gabau, Elisabeth, Jain, Vani, Varghese, Vinod, Al-Beshri, Ali, Fulton, Stephen, Wechsberg, Oded, Orenstein, Naama, Prescott, Katrina, Childs, Anne-Marie, Faivre, Laurence, Moutton, Sébastien, Sullivan, Jennifer A., Shashi, Vandana, Koudijs, Suzanne M., Heijligers, Malou, Kivuva, Emma, McTague, Amy, Male, Alison, van Ierland, Yvette, Plecko, Barbara, Maystadt, Isabelle, Hamid, Rizwan, Hannig, Vickie L., Houge, Gunnar, Janssens, Veerle
الحاوية / القاعدة Genet Med (2020)

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

بواسطة Kim, Jung-Hyun, Shinde, Deepali N., Reijnders, Margot R.F., Hauser, Natalie S., Belmonte, Rebecca L., Wilson, Gregory R., Bosch, Daniëlle G.M., Bubulya, Paula A., Shashi, Vandana, Petrovski, Slavé, Stone, Joshua K., Park, Eun Young, Veltman, Joris A., Sinnema, Margje, Stumpel, Connie T.R.M., Draaisma, Jos M., Nicolai, Joost, Yntema, Helger G., Lindstrom, Kristin, de Vries, Bert B.A., Jewett, Tamison, Santoro, Stephanie L., Vogt, Julie, Bachman, Kristine K., Seeley, Andrea H., Krokosky, Alyson, Turner, Clesson, Rohena, Luis, Hempel, Maja, Kortüm, Fanny, Lessel, Davor, Neu, Axel, Strom, Tim M., Wieczorek, Dagmar, Bramswig, Nuria, Laccone, Franco A., Behunova, Jana, Rehder, Helga, Gordon, Christopher T., Rio, Marlène, Romana, Serge, Tang, Sha, El-Khechen, Dima, Cho, Megan T., McWalter, Kirsty, Douglas, Ganka, Baskin, Berivan, Begtrup, Amber, Funari, Tara, Schoch, Kelly, Stegmann, Alexander P.A., Stevens, Servi J.C., Zhang, Dong-Er, Traver, David, Yao, Xu, MacArthur, Daniel G., Brunner, Han G., Mancini, Grazia M., Myers, Richard M., Owen, Laurie B., Lim, Ssang-Taek, Stachura, David L., Vissers, Lisenka E.L.M., Ahn, Eun-Young Erin
الحاوية / القاعدة Am J Hum Genet (2016)

The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies

بواسطة Redin, Claire, Brand, Harrison, Collins, Ryan L., Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C., Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M., Abbott, Mary-Alice, Abdul-Rahman, Omar A., Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L., Alkuraya, Fowzan S., An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F., Bartell, Tina, Bernstein, Jonathan A., Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M.H.F., Brilstra, Eva H., Brown, Chester W., Brüggenwirth, Hennie T., Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B., Cushing, Tom, David, Dezso, Deardorff, Matthew A., Dheedene, Annelies, D’Hooghe, Marc, de Vries, Bert B.A., Earl, Dawn L., Ferguson, Heather L., Fisher, Heather, FitzPatrick, David R., Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T., Gliem, Troy, Grady, Margo, Graham, Brett H., Griffis, Cristin, Gripp, Karen W., Gropman, Andrea L., Hanson-Kahn, Andrea, Harris, David J., Hayden, Mark A., Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D., Hopkin, Robert J., Hubshman, Monika W., Innes, A. Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C., Janssens, Sandra, Jewett, Tamison, Johnson, John P., Jongmans, Marjolijn C., Kahler, Stephen G., Koolen, David A., Korzelius, Jerome, Kroisel, Peter M., Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V., Li, Haibo, Li, Hong, Liao, Eric C., Lim, Cynthia, Lose, Edward J., Lucente, Diane, Macera, Michael J., Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L., Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W., Zepeda Mendoza, Cinthya J., Menten, Björn, Middelkamp, Sjors, Mikami, Liya R., Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E., Moya, Graciela, Nieuwint, Aggie W., Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P., Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Piña Aguilar, Raul E., Poddighe, Pino J., Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L.P., Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R., Tagoe, Julia, Thakuria, Joseph V., van Bon, Bregje W., van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M., van Roosmalen, Markus J., Vergult, Sarah, Volker-Touw, Catharina M.L., Warburton, Dorothy P., Waterman, Matthew J., Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A., Zori, Roberto T., Levy, Brynn, Brunner, Han G., de Leeuw, Nicole, Kloosterman, Wigard P., Thorland, Erik C., Morton, Cynthia C., Gusella, James F., Talkowski, Michael E.
الحاوية / القاعدة Nat Genet (2016)