Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations
Stankiewicz, Paweł, Sen, Partha, Bhatt, Samarth S., Storer, Mekayla, Xia, Zhilian, Bejjani, Bassem A., Ou, Zhishuo, Wiszniewska, Joanna, Driscoll, Daniel J., Bolivar, Juan, Bauer, Mislen, Zackai, Elaine H., McDonald-McGinn, Donna, Nowaczyk, Małgorzata M.J., Murray, Mitzi, Shaikh, Tamim H., Martin, Vicki, Tyreman, Matthew, Simonic, Ingrid, Willatt, Lionel, Paterson, Joan, Mehta, Sarju, Rajan, Diana, Fitzgerald, Tomas, Gribble, Susan, Prigmore, Elena, Patel, Ankita, Shaffer, Lisa G., Carter, Nigel P., Cheung, Sau Wai, Langston, Claire, Shaw-Smith, Charles
Published in American journal of human genetics (12.06.2009)
Published in American journal of human genetics (12.06.2009)
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Journal Article
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes
Beaudet, Arthur L, Shinawi, Marwan, Schaaf, Christian P, Bhatt, Samarth S, Xia, Zhilian, Patel, Ankita, Cheung, Sau Wai, Lanpher, Brendan, Nagl, Sandra, Herding, Heinrich Stephan, Nevinny-Stickel, Claudia, Immken, LaDonna L, Patel, Gayle Simpson, German, Jennifer Ruth, Stankiewicz, Pawel
Published in Nature genetics (01.12.2009)
Published in Nature genetics (01.12.2009)
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Journal Article
Detection of clinically relevant exonic copy-number changes by array CGH
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., del Gaudio, Daniela, 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
Published in Human mutation (01.12.2010)
Published in Human mutation (01.12.2010)
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Journal Article
GIRK Channels Modulate Opioid-Induced Motor Activity in a Cell Type- and Subunit-Dependent Manner
Kotecki, Lydia, Hearing, Matthew, McCall, Nora M, Marron Fernandez de Velasco, Ezequiel, Pravetoni, Marco, Arora, Devinder, Victoria, Nicole C, Munoz, Michaelanne B, Xia, Zhilian, Slesinger, Paul A, Weaver, C David, Wickman, Kevin
Published in The Journal of neuroscience (06.05.2015)
Published in The Journal of neuroscience (06.05.2015)
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Journal Article
Expression and relevance of the G protein-gated K + channel in the mouse ventricle
Anderson, Allison, Kulkarni, Kanchan, Marron Fernandez de Velasco, Ezequiel, Carlblom, Nicholas, Xia, Zhilian, Nakano, Atsushi, Martemyanov, Kirill A, Tolkacheva, Elena G, Wickman, Kevin
Published in Scientific reports (19.01.2018)
Published in Scientific reports (19.01.2018)
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Journal Article
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment
BRUNETTI-PIERRI, Nicola, PACIORKOWSKI, Alex R, RUIVENKAMP, Claudia, BERTRAND, Mary, DE RAVEL, Thomy Jl, JAYAKAR, Parul, BELLI, Serena, ROCCHETTI, Katia, PANTALEONI, Chiara, D'ARRIGO, Stefano, HUGHES, Jeff, SAU WAI CHEUNG, CICCONE, Roberto, ZUFFARDI, Orsetta, STANKIEWICZ, Pawel, MINA, Erika Della, BONAGLIA, Maria Clara, BORGATTI, Renato, SCHAAF, Christian P, SUTTON, V. Reid, ZHILIAN XIA, JELLUMA, Naftha
Published in European journal of human genetics : EJHG (01.01.2011)
Published in European journal of human genetics : EJHG (01.01.2011)
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Journal Article
Genomewide microRNA down‐regulation as a negative feedback mechanism in the early phases of liver regeneration
Shu, Jingmin, Kren, Betsy T., Xia, Zhilian, Wong, Phillip Y.‐P., Li, Lihua, Hanse, Eric A., Min, Michael X., Li, Bingshan, Albrecht, Jeffrey H., Zeng, Yan, Subramanian, Subbaya, Steer, Clifford J.
Published in Hepatology (Baltimore, Md.) (01.08.2011)
Published in Hepatology (Baltimore, Md.) (01.08.2011)
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Journal Article
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture
Vissers, Lisenka E.L.M., Bhatt, Samarth S., Janssen, Irene M., Xia, Zhilian, Lalani, Seema R., Pfundt, Rolph, Derwinska, Katarzyna, de Vries, Bert B.A., Gilissen, Christian, Hoischen, Alexander, Nesteruk, Monika, Wisniowiecka-Kowalnik, Barbara, Smyk, Marta, Brunner, Han G., Cheung, Sau Wai, van Kessel, Ad Geurts, Veltman, Joris A., Stankiewicz, Pawel
Published in Human molecular genetics (01.10.2009)
Published in Human molecular genetics (01.10.2009)
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Journal Article
Oxidative stress: A potential recipe for anxiety, hypertension and insulin resistance
Salim, Samina, Asghar, Mohammad, Chugh, Gaurav, Taneja, Manish, Xia, Zhilian, Saha, Kaustav
Published in Brain research (04.11.2010)
Published in Brain research (04.11.2010)
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Journal Article
GIRK2 splice variants and neuronal G protein-gated K + channels: implications for channel function and behavior
Marron Fernandez de Velasco, Ezequiel, Zhang, Lei, N Vo, Baovi, Tipps, Megan, Farris, Shannon, Xia, Zhilian, Anderson, Allison, Carlblom, Nicholas, Weaver, C David, Dudek, Serena M, Wickman, Kevin
Published in Scientific reports (09.05.2017)
Published in Scientific reports (09.05.2017)
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Journal Article
Dose-dependent differential mRNA target selection and regulation by let-7a-7f and miR-17-92 cluster microRNAs
Shu, Jingmin, Xia, Zhilian, Li, Lihua, Liang, Ellen T., Slipek, Nicholas, Shen, Dawen, Foo, Jasmine, Subramanian, Subbaya, Steer, Clifford J.
Published in RNA biology (01.10.2012)
Published in RNA biology (01.10.2012)
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Journal Article
Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay
Wiśniowiecka-Kowalnik, Barbara, Nesteruk, Monika, Peters, Sarika U., Xia, Zhilian, Cooper, M. Lance, Savage, Sarah, Amato, R. Stephen, Bader, Patricia, Browning, Marsha F., Haun, Christa L., Duda III, Andrew Walter, Cheung, Sau Wai, Stankiewicz, Paweł
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.07.2010)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.07.2010)
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Journal Article
Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C
Nowakowska, Beata A., Obersztyn, Ewa, Szymańska, Krystyna, Bekiesińska-Figatowska, Monika, Xia, Zhilian, Ricks, Christian B., Bocian, Ewa, Stockton, David W., Szczałuba, Krzysztof, Nawara, Magdalena, Patel, Ankita, Scott, Daryl A., Cheung, Sau Wai, Bohan, Timothy P., Stankiewicz, Paweł
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.07.2010)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.07.2010)
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Journal Article
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes
Ou, Zhishuo, Stankiewicz, Paweł, Xia, Zhilian, Breman, Amy M, Dawson, Brian, Wiszniewska, Joanna, Szafranski, Przemyslaw, Cooper, M Lance, Rao, Mitchell, Shao, Lina, South, Sarah T, Coleman, Karlene, Fernhoff, Paul M, Deray, Marcel J, Rosengren, Sally, Roeder, Elizabeth R, Enciso, Victoria B, Chinault, A Craig, Patel, Ankita, Kang, Sung-Hae L, Shaw, Chad A, Lupski, James R, Cheung, Sau W
Published in Genome research (01.01.2011)
Published in Genome research (01.01.2011)
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Journal Article
Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems
Ramocki, Melissa B., Bartnik, Magdalena, Szafranski, Przemyslaw, Kołodziejska, Katarzyna E., Xia, Zhilian, Bravo, Jaclyn, Miller, G. Steve, Rodriguez, Diana L., Williams, Charles A., Bader, Patricia I., Szczepanik, Elżbieta, Mazurczak, Tomasz, Antczak-Marach, Dorota, Coldwell, James G., Akman, Cigdem I., McAlmon, Karen, Cohen, Melinda P., McGrath, James, Roeder, Elizabeth, Mueller, Jennifer, Kang, Sung-Hae L., Bacino, Carlos A., Patel, Ankita, Bocian, Ewa, Shaw, Chad A., Cheung, Sau Wai, Mazurczak, Tadeusz, Stankiewicz, Paweł
Published in American journal of human genetics (10.12.2010)
Published in American journal of human genetics (10.12.2010)
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Journal Article
Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy
Campbell, Ian M, Rao, Mitchell, Arredondo, Sean D, Lalani, Seema R, Xia, Zhilian, Kang, Sung-Hae L, Bi, Weimin, Breman, Amy M, Smith, Janice L, Bacino, Carlos A, Beaudet, Arthur L, Patel, Ankita, Cheung, Sau Wai, Lupski, James R, Stankiewicz, Paweł, Ramocki, Melissa B, Shaw, Chad A
Published in PLoS genetics (01.09.2013)
Published in PLoS genetics (01.09.2013)
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Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid
Derwińska, Katarzyna, Mierzewska, Hanna, Goszczańska, Alicja, Szczepanik, Elżbieta, Xia, Zhilian, Kuśmierska, Katarzyna, Tryfon, Jolanta, Kutkowska-Kaźmierczak, Anna, Bocian, Ewa, Mazurczak, Tadeusz, Obersztyn, Ewa, Stankiewicz, Paweł
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.03.2012)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.03.2012)
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Journal Article
HERV-Mediated Genomic Rearrangement of εYA1 in an individual With Branchio-oto-renal Syndrome
SANCHEZ-VALLE, Amarilis, XUEQING WANG, EIFERT, Anna L, STANKIEWICZ, Pawel, SAU WAI CHEUNG, LALANI, Seema R, POTOCKI, Lorraine, ZHILIAN XIA, KANG, Sung-Hae L, CARLIN, Mary E, MICHEL, Donnice, WILLIAMS, Patricia, CABRERA-MEZA, Gerardo, BRUNDAGE, Ellen K
Published in American journal of medical genetics. Part A (01.11.2010)
Published in American journal of medical genetics. Part A (01.11.2010)
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Journal Article
Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder
Erez, Ayelet, Patel, Amina J., Wang, Xueqing, Xia, Zhilian, Bhatt, Samarth S., Craigen, William, Cheung, Sau Wai, Lewis, Richard A., Fang, Ping, Davenport, Sandra L. H., Stankiewicz, Pawel, Lalani, Seema R.
Published in Neurogenetics (01.10.2009)
Published in Neurogenetics (01.10.2009)
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Journal Article
RGS6, but not RGS4, is the dominant regulator of G protein signaling (RGS) modulator of the parasympathetic regulation of mouse heart rate
Wydeven, Nicole, Posokhova, Ekaterina, Xia, Zhilian, Martemyanov, Kirill A, Wickman, Kevin
Published in The Journal of biological chemistry (24.01.2014)
Published in The Journal of biological chemistry (24.01.2014)
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