Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations

Por Robberecht, Caroline, Voet, Thierry, Esteki, Masoud Zamani, Nowakowska, Beata A., Vermeesch, Joris R.
Publicado em 2013

The Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders

Por Szymańska, Krystyna, Szczałuba, Krzysztof, Ługowska, Agnieszka, Obersztyn, Ewa, Radkowski, Marek, Nowakowska, Beata A., Kuśmierska, Katarzyna, Tryfon, Jolanta, Demkow, Urszula
Publicado em 2014

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH

Por Tsai, Anne Chun-Hui, J Dossett, Cherilyn, Walton, Carol S, E Cramer, Andrea, Eng, Patti A, Nowakowska, Beata A, Pursley, Amber N, Stankiewicz, Pawel, Wiszniewska, Joanna, Cheung, Sau Wai
Publicado em 2011

A catalog of hemizygous variation in 127 22q11 deletion patients

Por Hestand, Matthew S, Nowakowska, Beata A, Vergaelen, Elfi, Van Houdt, Jeroen, Dehaspe, Luc, Suhl, Joshua A, Del-Favero, Jurgen, Mortier, Geert, Zackai, Elaine, Swillen, Ann, Devriendt, Koenraad, Gur, Raquel E, McDonald-McGinn, Donna M, Warren, Stephen T, Emanuel, Beverly S, Vermeesch, Joris R
Publicado no Hum Genome Var (2016)

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

Por McDonald-McGinn, Donna M, Fahiminiya, Somayyeh, Revil, Timothée, Nowakowska, Beata A, Suhl, Joshua, Bailey, Alice, Mlynarski, Elisabeth, Lynch, David R, Yan, Albert C, Bilaniuk, Larissa T, Sullivan, Kathleen E, Warren, Stephen T, Emanuel, Beverly S, Vermeesch, Joris R, Zackai, Elaine H, Jerome-Majewska, Loydie A
Publicado em 2013

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

Por Nowakowska, Beata A, de Leeuw, Nicole, Ruivenkamp, Claudia AL, Sikkema-Raddatz, Birgit, Crolla, John A, Thoelen, Reinhilde, Koopmans, Marije, den Hollander, Nicolette, van Haeringen, Arie, van der Kevie-Kersemaekers, Anne-Marie, Pfundt, Rolph, Mieloo, Hanneke, van Essen, Ton, de Vries, Bert B A, Green, Andrew, Reardon, Willie, Fryns, Jean-Pierre, Vermeesch, Joris R
Publicado em 2012

Detection of Clinically Relevant Exonic Copy-Number Changes by Array CGH

Por Boone, Philip M., Bacino, Carlos A., Shaw, Chad A., Eng, Patricia A., Hixson, Patricia M., Pursley, Amber N., Kang, Sung-Hae L., Yang, Yaping, Wiszniewska, Joanna, Nowakowska, Beata A., Gaudio, Daniela del, Xia, Zhilian, Simpson-Patel, Gayle, Immken, LaDonna L., Gibson, James B., Tsai, Anne C.-H., Bowers, Jennifer A., Reimschisel, Tyler E., Schaaf, Christian P., Potocki, Lorraine, Scaglia, Fernando, Gambin, Tomasz, Sykulski, Maciej, Bartnik, Magdalena, Derwinska, Katarzyna, Wisniowiecka-Kowalnik, Barbara, Lalani, Seema R., Probst, Frank J., Bi, Weimin, Beaudet, Arthur L., Patel, Ankita, Lupski, James R., Cheung, Sau Wai, Stankiewicz, Pawel
Publicado em 2010