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 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 2014

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 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 2013

Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome

por Smyk, Marta, Geremek, Maciej, Ziemkiewicz, Kamila, Gambin, Tomasz, Kutkowska-Kaźmierczak, Anna, Kowalczyk, Katarzyna, Plaskota, Izabela, Wiśniowiecka-Kowalnik, Barbara, Bartnik-Głaska, Magdalena, Niemiec, Magdalena, Grad, Dominika, Piotrowicz, Małgorzata, Gieruszczak-Białek, Dorota, Pietrzyk, Aleksandra, Crowley, T. Blaine, Giunta, Victoria, McGinn, Daniel E., Zackai, Elaine H., Tran, Oanh, Emanuel, Beverly S., McDonald-McGinn, Donna M., Nowakowska, Beata A.
Publicado 2023