Overgrowth Syndromes-Evaluation, Diagnosis, and Management von Manor, Joshua, Lalani, Seema R

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Current Genetic Testing Tools in Neonatal Medicine von Lalani, Seema R., MD

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Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially von Luo, Xi, Rosenfeld, Jill A, Yamamoto, Shinya, Harel, Tamar, Zuo, Zhongyuan, Hall, Melissa, Wierenga, Klaas J, Pastore, Matthew T, Bartholomew, Dennis, Delgado, Mauricio R, Rotenberg, Joshua, Lewis, Richard Alan, Emrick, Lisa, Bacino, Carlos A, Eldomery, Mohammad K, Coban Akdemir, Zeynep, Xia, Fan, Yang, Yaping, Lalani, Seema R, Lotze, Timothy, Lupski, James R, Lee, Brendan, Bellen, Hugo J, Wangler, Michael F

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The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications von 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.

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Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36 von 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

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Mechanisms for Complex Chromosomal Insertions von Gu, Shen, Szafranski, Przemyslaw, Akdemir, Zeynep Coban, Yuan, Bo, Cooper, Mitchell L, Magriñá, Maria A, Bacino, Carlos A, Lalani, Seema R, Breman, Amy M, Smith, Janice L, Patel, Ankita, Song, Rodger H, Bi, Weimin, Cheung, Sau Wai, Carvalho, Claudia M B, Stankiewicz, Paweł, Lupski, James R

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Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome von Bélanger, Catherine, Bérubé-Simard, Félix-Antoine, Leduc, Elizabeth, Bernas, Guillaume, Campeau, Philippe M., Lalani, Seema R., Martin, Donna M., Bielas, Stephanie, Moccia, Amanda, Srivastava, Anshika, Silversides, David W., Pilon, Nicolas

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22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome von 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

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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 von 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.

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Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability von Grau, Christina, Starkovich, Molly, Azamian, Mahshid S, Xia, Fan, Cheung, Sau Wai, Evans, Patricia, Henderson, Alex, Lalani, Seema R, Scott, Daryl A

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Case Report: An association of left ventricular outflow tract obstruction with 5p deletions von Mascho, Kira, Yatsenko, Svetlana A, Lo, Cecilia W, Xu, Xinxiu, Johnson, Jennifer, Helvaty, Lindsey R, Burns Wechsler, Stephanie, Murali, Chaya N, Lalani, Seema R, Garg, Vidu, Hodge, Jennelle C, McBride, Kim L, Ware, Stephanie M, Lin, Jiuann-Huey Ivy

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2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis von Kennedy, Adam D, Pappan, Kirk L, Donti, Taraka, Delgado, Mauricio R, Shinawi, Marwan, Pearson, Toni S, Lalani, Seema R, Craigen, William E, Sutton, V Reid, Evans, Anne M, Sun, Qin, Emrick, Lisa T, Elsea, Sarah H

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Corrigendum: Overgrowth Syndromes-Evaluation, Diagnosis, and Management von Manor, Joshua, Lalani, Seema R

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A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease von Landis, Benjamin J., Helvaty, Lindsey R., Geddes, Gabrielle C., Lin, Jiuann‐Huey Ivy, Yatsenko, Svetlana A., Lo, Cecilia W., Border, William L., Wechsler, Stephanie Burns, Murali, Chaya N., Azamian, Mahshid S., Lalani, Seema R., Hinton, Robert B., Garg, Vidu, McBride, Kim L., Hodge, Jennelle C., Ware, Stephanie M.

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Lung Transplantation for FLNA -Associated Progressive Lung Disease von Burrage, Lindsay C., MD, PhD, Guillerman, R. Paul, MD, Das, Shailendra, DO, Singh, Shipra, MD, MPH, Schady, Deborah A., MD, Morris, Shaine A., MD, MPH, Walkiewicz, Magdalena, PhD, Schecter, Marc G., MD, Heinle, Jeffrey S., MD, Lotze, Timothy E., MD, Lalani, Seema R., MD, Mallory, George B., MD

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Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of Texas von Vuocolo, Blake, Sierra, Roberta, Brooks, Daniel, Holder, Christopher, Urbanski, Lauren, Rodriguez, Keila, Gamez, Jose David, Mulukutla, Surya Narayan, Hernandez, Ana, Allegre, Alberto, Hidalgo, Humberto, Rodriguez, Sarah, Magallan, Sandy, Gibson, Jeremy, Bernini, Juan Carlos, Watson, Melanie, Nelson, Robert, Mellin-Sanchez, Lizbeth, Garcia, Nancy, Berry, Lori, Dai, Hongzheng, Soler-Alfonso, Claudia, Carter, Kent, Lee, Brendan, Lalani, Seema R

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Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture von 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

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Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation von 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.

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Phenotypic manifestations of copy number variation in chromosome 16p13.11 von Nagamani, Sandesh C Sreenath, Erez, Ayelet, Bader, Patricia, Lalani, Seema R, Scott, Daryl A, Scaglia, Fernando, Plon, Sharon E, Tsai, Chun-Hui, Reimschisel, Tyler, Roeder, Elizabeth, Malphrus, Amy D, Eng, Patricia A, Hixson, Patricia M, Kang, Sung-Hae L, Stankiewicz, Pawel, Patel, Ankita, Cheung, Sau Wai

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Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization von 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.

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