The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications
Gillentine, M. A., Berry, L. N., Goin-Kochel, R. P., Ali, M. A., Ge, J., Guffey, D., Rosenfeld, J. A., Hannig, V., Bader, P., Proud, M., Shinawi, M., Graham, B. H., Lin, A., Lalani, S. R., Reynolds, J., Chen, M., Grebe, T., Minard, C. G., Stankiewicz, P., Beaudet, A. L., Schaaf, C. P.
Published in Journal of autism and developmental disorders (01.03.2017)
Published in Journal of autism and developmental disorders (01.03.2017)
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Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome
Layman, W.S., McEwen, D.P., Beyer, L.A., Lalani, S.R., Fernbach, S.D., Oh, E., Swaroop, A., Hegg, C.C., Raphael, Y., Martens, J.R., Martin, D.M.
Published in Human molecular genetics (01.06.2009)
Published in Human molecular genetics (01.06.2009)
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Journal Article
Personalized medicine approach confirms a milder case of ABAT deficiency
Besse, A, Petersen, A K, Hunter, J V, Appadurai, V, Lalani, S R, Bonnen, P E
Published in Molecular brain (01.12.2016)
Published in Molecular brain (01.12.2016)
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Journal Article
20p12.3 microdeletion predisposes to Wolff–Parkinson–White syndrome with variable neurocognitive deficits
Lalani, S R, Thakuria, J V, Cox, G F, Wang, X, Bi, W, Bray, M S, Shaw, C, Cheung, S W, Chinault, A C, Boggs, B A, Ou, Z, Brundage, E K, Lupski, J R, Gentile, J, Waisbren, S, Pursley, A, Ma, L, Khajavi, M, Zapata, G, Friedman, R, Kim, J J, Towbin, J A, Stankiewicz, P, Schnittger, S, Hansmann, I, Ai, T, Sood, S, Wehrens, X H, Martin, J F, Belmont, J W, Potocki, L
Published in Journal of medical genetics (01.03.2009)
Published in Journal of medical genetics (01.03.2009)
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Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange
Yan, J, Zhang, F, Brundage, E, Scheuerle, A, Lanpher, B, Erickson, R P, Powis, Z, Robinson, H B, Trapane, P L, Stachiw-Hietpas, D, Keppler-Noreuil, K M, Lalani, S R, Sahoo, T, Chinault, A C, Patel, A, Cheung, S W, Lupski, J R
Published in Journal of medical genetics (01.09.2009)
Published in Journal of medical genetics (01.09.2009)
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De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations
Probst, F J, James, R A, Burrage, L C, Rosenfeld, J A, Bohan, T P, Ward Melver, C H, Magoulas, P, Austin, E, Franklin, A I A, Azamian, M, Xia, F, Patel, A, Bi, W, Bacino, C, Belmont, J W, Ware, S M, Shaw, C, Cheung, S W, Lalani, S R
Published in Orphanet journal of rare diseases (14.06.2015)
Published in Orphanet journal of rare diseases (14.06.2015)
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Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome
Kang, S-HL, Scheffer, A, Ou, Z, Li, J, Scaglia, F, Belmont, J, Lalani, SR, Roeder, E, Enciso, V, Braddock, S, Buchholz, J, Vacha, S, Chinault, AC, Cheung, SW, Bacino, CA
Published in Clinical genetics (01.10.2007)
Published in Clinical genetics (01.10.2007)
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Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization
Brunetti-Pierri, N, Grange, DK, Ou, Z, Peiffer, DA, Peacock, SKG, Cooper, ML, Eng, PA, Lalani, SR, Chinault, AC, Gunderson, KL, Craigen, WJ, Cheung, S-W
Published in Clinical genetics (01.11.2007)
Published in Clinical genetics (01.11.2007)
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A Common Breakpoint on 11q23 in Carriers of the Constitutional t(11;22) Translocation
Edelmann, L., Spiteri, E., McCain, N., Goldberg, R., Pandita, R.K., Duong, S., Fox, J., Blumenthal, D., Lalani, S.R., Shaffer, L.G., Morrow, B.E.
Published in American journal of human genetics (01.12.1999)
Published in American journal of human genetics (01.12.1999)
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Journal Article
Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications
Gillentine, M. A., Berry, L. N., Goin-Kochel, R. P., Ali, M. A., Ge, J., Guffey, D., Rosenfeld, J. A., Hannig, V., Bader, P., Proud, M., Shinawi, M., Graham, B. H., Lin, A., Lalani, S. R., Reynolds, J., Chen, M., Grebe, T., Minard, C. G., Stankiewicz, P., Beaudet, A. L., Schaaf, C. P.
Published in Journal of autism and developmental disorders (01.03.2017)
Published in Journal of autism and developmental disorders (01.03.2017)
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Journal Article
SEMA3E mutation in a patient with CHARGE syndrome
Lalani, S R, Safiullah, A M, Molinari, L M, Fernbach, S D, Martin, D M, Belmont, J W
Published in Journal of medical genetics (01.07.2004)
Published in Journal of medical genetics (01.07.2004)
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Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles
Boone, Philip M, Campbell, Ian M, Baggett, Brett C, Soens, Zachry T, Rao, Mitchell M, Hixson, Patricia M, Patel, Ankita, Bi, Weimin, Cheung, Sau Wai, Lalani, Seema R, Beaudet, Arthur L, Stankiewicz, Pawel, Shaw, Chad A, Lupski, James R
Published in Genome research (01.09.2013)
Published in Genome research (01.09.2013)
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Journal Article
Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation
Lalani, Seema R., Safiullah, Arsalan M., Fernbach, Susan D., Harutyunyan, Karine G., Thaller, Christina, Peterson, Leif E., McPherson, John D., Gibbs, Richard A., White, Lisa D., Hefner, Margaret, Davenport, Sandra L.H., Graham, John M., Bacino, Carlos A., Glass, Nancy L., Towbin, Jeffrey A., Craigen, William J., Neish, Steven R., Lin, Angela E., Belmont, John W.
Published in American journal of human genetics (01.02.2006)
Published in American journal of human genetics (01.02.2006)
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22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome
Ben-Shachar, Shay, Ou, Zhishuo, Shaw, Chad A., Belmont, John W., Patel, Millan S., Hummel, Marybeth, Amato, Stephen, Tartaglia, Nicole, Berg, Jonathan, Sutton, V. Reid, Lalani, Seema R., Chinault, A. Craig, Cheung, Sau W., Lupski, James R., Patel, Ankita
Published in American journal of human genetics (01.01.2008)
Published in American journal of human genetics (01.01.2008)
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Journal Article
Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36
Zaveri, Hitisha P, Beck, Tyler F, Hernández-García, Andrés, Shelly, Katharine E, Montgomery, Tara, van Haeringen, Arie, Anderlid, Britt-Marie, Patel, Chirag, Goel, Himanshu, Houge, Gunnar, Morrow, Bernice E, Cheung, Sau Wai, Lalani, Seema R, Scott, Daryl A
Published in PloS one (15.01.2014)
Published in PloS one (15.01.2014)
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Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization
Sahoo, Trilochan, Cheung, Sau Wai, Ward, Patricia, Darilek, Sandra, Patel, Ankita, del Gaudio, Daniela, Kang, Sung Hae L., Lalani, Seema R., Li, Jiangzhen, McAdoo, Sallie, Burke, Audrey, Shaw, Chad A., Stankiewicz, Pawel, Chinault, A. Craig, Van den Veyver, Ignatia B., Roa, Benjamin B., Beaudet, Arthur L., Eng, Christine M.
Published in Genetics in medicine (01.11.2006)
Published in Genetics in medicine (01.11.2006)
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Journal Article
Original Article: Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome
S-HL Kang, Scheffer, A, Z Ou, J Li, Scaglia, F, Belmont, J, Lalani, SR, Roeder, E, Enciso, V, Braddock, S, Buchholz, J, Vacha, S, Chinault, A C, Cheung, S W, Bacino, CA
Published in Clinical genetics (01.10.2007)
Published in Clinical genetics (01.10.2007)
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