FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation

Por Aldinger, Kimberly A, Lehmann, Ordan J, Hudgins, Louanne, Chizhikov, Victor V, Bassuk, Alexander G, Ades, Lesley C, Krantz, Ian D, Dobyns, William B, Millen, Kathleen J
Publicado em 2009

Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes

Por Santos, Lane J. Jaeckle, Xing, Chao, Barnes, Robert B., Ades, Lesley C., Megarbane, Andre, Vidal, Christopher, Xuereb, Angela, Tarpey, Patrick S., Smith, Raffaella, Khazab, Mahmoud, Shoubridge, Cheryl, Partington, Michael, Futreal, Andrew, Stratton, Michael R., Gecz, Jozef, Zinn, Andrew R.
Publicado em 2008

Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

Por Renard, Marjolijn, Holm, Tammy, Veith, Regan, Callewaert, Bert L, Adès, Lesley C, Baspinar, Osman, Pickart, Angela, Dasouki, Majed, Hoyer, Juliane, Rauch, Anita, Trapane, Pamela, Earing, Michael G, Coucke, Paul J, Sakai, Lynn Y, Dietz, Harry C, De Paepe, Anne M, Loeys, Bart L
Publicado em 2010

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

Por Renard, Marjolijn, Francis, Catherine, Ghosh, Rajarshi, Scott, Alan F., Witmer, P. Dane, Adès, Lesley C., Andelfinger, Gregor U., Arnaud, Pauline, Boileau, Catherine, Callewaert, Bert L., Guo, Dongchuan, Hanna, Nadine, Lindsay, Mark E., Morisaki, Hiroko, Morisaki, Takayuki, Pachter, Nicholas, Robert, Leema, Van Laer, Lut, Dietz, Harry C., Loeys, Bart L., Milewicz, Dianna M., Backer, Julie De
Publicado no J Am Coll Cardiol (2018)

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

Por Friez, Michael J, Brooks, Susan Sklower, Stevenson, Roger E, Field, Michael, Basehore, Monica J, Adès, Lesley C, Sebold, Courtney, McGee, Stephen, Saxon, Samantha, Skinner, Cindy, Craig, Maria E, Murray, Lucy, Simensen, Richard J, Yap, Ying Yzu, Shaw, Marie A, Gardner, Alison, Corbett, Mark, Kumar, Raman, Bosshard, Matthias, van Loon, Barbara, Tarpey, Patrick S, Abidi, Fatima, Gecz, Jozef, Schwartz, Charles E
Publicado no BMJ Open (2016)

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Por van Bon, Bregje W M, Koolen, David A, Brueton, Louise, McMullan, Dominic, Lichtenbelt, Klaske D, Adès, Lesley C, Peters, Gregory, Gibson, Kate, Moloney, Susan, Novara, Francesca, Pramparo, Tiziano, Bernardina, Bernardo Dalla, Zoccante, Leonardo, Balottin, Umberto, Piazza, Fausta, Pecile, Vanna, Gasparini, Paolo, Guerci, Veronica, Kets, Marleen, Pfundt, Rolph, de Brouwer, Arjan P, Veltman, Joris A, de Leeuw, Nicole, Wilson, Meredith, Antony, Jayne, Reitano, Santina, Luciano, Daniela, Fichera, Marco, Romano, Corrado, Brunner, Han G, Zuffardi, Orsetta, de Vries, Bert BA
Publicado em 2010

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Por van Bon, Bregje WM, Koolen, David A, Brueton, Louise, McMullan, Dominic, Lichtenbelt, Klaske D, Adès, Lesley C, Peters, Gregory, Gibson, Kate, Novara, Francesca, Pramparo, Tiziano, Bernardina, Bernardo Dalla, Zoccante, Leonardo, Balottin, Umberto, Piazza, Fausta, Pecile, Vanna, Gasparini, Paolo, Guerci, Veronica, Kets, Marleen, Pfundt, Rolph, de Brouwer, Arjan P, Veltman, Joris A, de Leeuw, Nicole, Wilson, Meredith, Antony, Jayne, Reitano, Santina, Luciano, Daniela, Fichera, Marco, Romano, Corrado, Brunner, Han G, Zuffardi, Orsetta, de Vries, Bert BA
Publicado em 2010

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Por van Bon, Bregje WM, Koolen, David A, Brueton, Louise, McMullan, Dominic, Lichtenbelt, Klaske D, Adès, Lesley C, Peters, Gregory, Gibson, Kate, Novara, Francesca, Pramparo, Tiziano, Bernardina, Bernardo Dalla, Zoccante, Leonardo, Balottin, Umberto, Piazza, Fausta, Pecile, Vanna, Gasparini, Paolo, Guerci, Veronica, Kets, Marleen, Pfundt, Rolph, de Brouwer, Arjan P, Veltman, Joris A, de Leeuw, Nicole, Wilson, Meredith, Antony, Jayne, Reitano, Santina, Luciano, Daniela, Fichera, Marco, Romano, Corrado, Brunner, Han G, Zuffardi, Orsetta, de Vries, Bert BA
Publicado em 2010

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

Por Wade, Emma M., Daniel, Philip B., Jenkins, Zandra A., McInerney-Leo, Aideen, Leo, Paul, Morgan, Tim, Addor, Marie Claude, Adès, Lesley C., Bertola, Debora, Bohring, Axel, Carter, Erin, Cho, Tae-Joon, Duba, Hans-Christoph, Fletcher, Elaine, Kim, Chong A., Krakow, Deborah, Morava, Eva, Neuhann, Teresa, Superti-Furga, Andrea, Veenstra-Knol, Irma, Wieczorek, Dagmar, Wilson, Louise C., Hennekam, Raoul C.M., Sutherland-Smith, Andrew J., Strom, Tim M., Wilkie, Andrew O.M., Brown, Matthew A., Duncan, Emma L., Markie, David M., Robertson, Stephen P.
Publicado no Am J Hum Genet (2016)

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

Por Talkowski, Michael E., Mullegama, Sureni V., Rosenfeld, Jill A., van Bon, Bregje W.M., Shen, Yiping, Repnikova, Elena A., Gastier-Foster, Julie, Thrush, Devon Lamb, Kathiresan, Sekar, Ruderfer, Douglas M., Chiang, Colby, Hanscom, Carrie, Ernst, Carl, Lindgren, Amelia M., Morton, Cynthia C., An, Yu, Astbury, Caroline, Brueton, Louise A., Lichtenbelt, Klaske D., Ades, Lesley C., Fichera, Marco, Romano, Corrado, Innis, Jeffrey W., Williams, Charles A., Bartholomew, Dennis, Van Allen, Margot I., Parikh, Aditi, Zhang, Lilei, Wu, Bai-Lin, Pyatt, Robert E., Schwartz, Stuart, Shaffer, Lisa G., de Vries, Bert B.A., Gusella, James F., Elsea, Sarah H.
Publicado em 2011