Genetics and epigenetics of autism spectrum disorder—current evidence in the field

Autor Wiśniowiecka-Kowalnik, Barbara, Nowakowska, Beata Anna
Vydáno v J Appl Genet (2019)

Multiple samples aCGH analysis for rare CNVs detection

Autor Sykulski, Maciej, Gambin, Tomasz, Bartnik, Magdalena, Derwińska, Katarzyna, Wiśniowiecka-Kowalnik, Barbara, Stankiewicz, Paweł, Gambin, Anna
Vydáno 2013

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

Autor Wiśniowiecka-Kowalnik, Barbara, Kastory-Bronowska, Monika, Bartnik, Magdalena, Derwińska, Katarzyna, Dymczak-Domini, Wanda, Szumbarska, Dorota, Ziemka, Ewa, Szczałuba, Krzysztof, Sykulski, Maciej, Gambin, Tomasz, Gambin, Anna, Shaw, Chad A, Mazurczak, Tadeusz, Obersztyn, Ewa, Bocian, Ewa, Stankiewicz, Paweł
Vydáno 2013

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

Autor Bartnik, Magdalena, Nowakowska, Beata, Derwińska, Katarzyna, Wiśniowiecka-Kowalnik, Barbara, Kędzior, Marta, Bernaciak, Joanna, Ziemkiewicz, Kamila, Gambin, Tomasz, Sykulski, Maciej, Bezniakow, Natalia, Korniszewski, Lech, Kutkowska-Kaźmierczak, Anna, Klapecki, Jakub, Szczałuba, Krzysztof, Shaw, Chad A., Mazurczak, Tadeusz, Gambin, Anna, Obersztyn, Ewa, Bocian, Ewa, Stankiewicz, Paweł
Vydáno 2013

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

Autor Campbell, Ian M., Yuan, Bo, Robberecht, Caroline, Pfundt, Rolph, Szafranski, Przemyslaw, McEntagart, Meriel E., Nagamani, Sandesh C.S., Erez, Ayelet, Bartnik, Magdalena, Wiśniowiecka-Kowalnik, Barbara, Plunkett, Katie S., Pursley, Amber N., Kang, Sung-Hae L., Bi, Weimin, Lalani, Seema R., Bacino, Carlos A., Vast, Mala, Marks, Karen, Patton, Michael, Olofsson, Peter, Patel, Ankita, Veltman, Joris A., Cheung, Sau Wai, Shaw, Chad A., Vissers, Lisenka E.L.M., Vermeesch, Joris R., Lupski, James R., Stankiewicz, Paweł
Vydáno 2014

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Autor Ji, Jianling, Lee, Hane, Argiropoulos, Bob, Dorrani, Naghmeh, Mann, John, Martinez-Agosto, Julian A, Gomez-Ospina, Natalia, Gallant, Natalie, Bernstein, Jonathan A, Hudgins, Louanne, Slattery, Leah, Isidor, Bertrand, Le Caignec, Cédric, David, Albert, Obersztyn, Ewa, Wiśniowiecka-Kowalnik, Barbara, Fox, Michelle, Deignan, Joshua L, Vilain, Eric, Hendricks, Emily, Horton Harr, Margaret, Noon, Sarah E, Jackson, Jessi R, Wilkens, Alisha, Mirzaa, Ghayda, Salamon, Noriko, Abramson, Jeff, Zackai, Elaine H, Krantz, Ian, Innes, A Micheil, Nelson, Stanley F, Grody, Wayne W, Quintero-Rivera, Fabiola
Vydáno v Eur J Hum Genet (2015)

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

Autor 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
Vydáno 2010