Reply to Amor et al

Por Brunetti-Pierri, Nicola, Cheung, Sau Wai, Stankiewicz, Paweł
Publicado em 2012

Genotype, Phenotype, and Karyotype Correlation in the XO Mouse Model of Turner Syndrome

Por Probst, Frank J., Cooper, Mitchell Lance, Cheung, Sau Wai, Justice, Monica J.
Publicado em 2008

VACTERL Association and Mitochondrial Dysfunction

Por Solomon, Benjamin D., Patel, Ankita, Cheung, Sau Wai, Pineda–Alvarez1, Daniel E.
Publicado em 2011

PTCH1 duplication in a family with microcephaly and mild developmental delay

Por Derwińska, Katarzyna, Smyk, Marta, Cooper, Mitchell Lance, Bader, Patricia, Cheung, Sau Wai, Stankiewicz, Paweł
Publicado em 2009

Molecular Definition of High-resolution Multicolor Banding Probes: First Within the Human DNA Sequence Anchored FISH Banding Probe Set

Por Weise, Anja, Mrasek, Kristin, Fickelscher, Ina, Claussen, Uwe, Cheung, Sau Wai, Cai, Wei Wen, Liehr, Thomas, Kosyakova, Nadezda
Publicado em 2008

Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome

Por Yatsenko, Svetlana A., Brundage, Ellen K., Roney, Erin K., Cheung, Sau Wai, Chinault, A. Craig, Lupski, James R.
Publicado em 2009

A 1q42 Deletion Involving DISC1, DISC2, and TSNAX in an Autism Spectrum Disorder

Por Williams, Jaime M., Beck, Tyler F., Pearson, David M., Proud, Monica B., Cheung, Sau Wai, Scott, Daryl A.
Publicado em 2009

Deletions of Xp Provide Evidence for the Role of Holocytochrome C-Type Synthase (HCCS) in Congenital Diaphragmatic Hernia

Por Qidwai, Kanwal, Pearson, David M., Patel, Gayle Simpson, Pober, Barbara R., Immken, LaDonna L., Cheung, Sau Wai, Scott, Daryl A.
Publicado em 2010

Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability

Por Grau, Christina, Starkovich, Molly, Azamian, Mahshid S., Xia, Fan, Cheung, Sau Wai, Evans, Patricia, Henderson, Alex, Lalani, Seema R., Scott, Daryl A.
Publicado no PLoS One (2017)

Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q

Por Shinawi, Marwan, Erez, Ayelet, Shardy, Deborah L., Lee, Brendan, Naeem, Rizwan, Weissenberger, George, Chinault, A. Craig, Cheung, Sau Wai, Plon, Sharon E.
Publicado em 2008

MECP2 duplications in six patients with complex sex chromosome rearrangements

Por Breman, Amy M, Ramocki, Melissa B, Kang, Sung-Hae L, Williams, Misti, Freedenberg, Debra, Patel, Ankita, Bader, Patricia I, Cheung, Sau Wai
Publicado em 2011

MECP2 duplications in six patients with complex sex chromosome rearrangements

Por Breman, Amy M, Ramocki, Melissa B, Kang, Sung-Hae L, Williams, Misti, Freedenberg, Debra, Patel, Ankita, Bader, Patricia I, Cheung, Sau Wai
Publicado em 2011

Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay

Por Witsch, Jens, Szafranski, Przemyslaw, Chen, Chun-An, Immken, LaDonna, Simpson Patel, Gayle, Hixson, Patricia, Cheung, Sau Wai, Stankiewicz, Pawel, Schaaf, Christian P
Publicado em 2013

Increased gene copy number of the vesicle SNARE VAMP7 disrupts human male urogenital development through altered estrogen action

Por Tannour-Louet, Mounia, Han, Shuo, Louet, Jean-Francois, Zhang, Bin, Romero, Karina, Addai, Josephine, Sahin, Aysegul, Cheung, Sau Wai, Lamb, Dolores J
Publicado no Nat Med (2014)

Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review

Por El-Hattab, Ayman W, Schaaf, Christian P, Fang, Ping, Roeder, Elizabeth, Kimonis, Virginia E, Church, Joseph A, Patel, Ankita, Cheung, Sau Wai
Publicado no BMC Med Genet (2015)

Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement

Por Shchelochkov, Oleg A, Cooper, M Lance, Ou, Zhishuo, Peacock, Sandra, Yatsenko, Svetlana A, Brown, Chester W, Fang, Ping, Stankiewicz, Pawel, Cheung, Sau Wai
Publicado em 2008

TGFBR2 Deletion in a 20-Month-Old Female With Developmental Delay and Microcephaly

Por Campbell, Ian M., Kolodziejska, Katarzyna E., Quach, Michael M., Wolf, Varina Louise, Cheung, Sau Wai, Lalani, Seema R., Ramocki, Melissa B., Stankiewicz, Pawel
Publicado em 2011

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

Por Sahoo, Trilochan, del Gaudio, Daniela, German, Jennifer R, Shinawi, Marwan, Peters, Sarika U, Person, Richard E, Garnica, Adolfo, Cheung, Sau Wai, Beaudet, Arthur L
Publicado em 2008

Identification of Complex Chromosome 18 Rearrangements by FISH and Array CGH in Two Patients With Apparent Isochromosome 18q

Por Breman, Amy M., Probst, Frank J., Blazo, Maria A., Schaaf, Christian P., Roney, Erin K., Craigen, William J., Bacino, Carlos A., Cheung, Sau Wai
Publicado em 2011

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

Por Ou, Zhishuo, Kang, Sung-Hae L., Shaw, Chad A., Carmack, Condie E., White, Lisa D., Patel, Ankita, Beaudet, Arthur L., Cheung, Sau Wai, Chinault, A. Craig
Publicado em 2008