Search Results - "Lalani, R"

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

“…Abnormally excessive growth results from perturbation of a complex interplay of genetic, epigenetic, and hormonal factors that orchestrate human growth…”
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Current Genetic Testing Tools in Neonatal Medicine by Lalani, Seema R., MD

“…Abstract With the growing understanding of the magnitude of genetic diseases in newborns and equally rapid advancement of tools used for genetic diagnoses, the…”
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Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially by 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

“…Dominant mutations in CACNA1A, encoding the α-1A subunit of the neuronal P/Q type voltage-dependent Ca2+ channel, can cause diverse neurological phenotypes…”
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Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome by 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

“…CHARGE syndrome—which stands for coloboma of the eye, heart defects, atresia of choanae, retardation of growth/development, genital abnormalities, and ear…”
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The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications by 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.

“…Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3…”
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Case Report: An association of left ventricular outflow tract obstruction with 5p deletions by 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

“…Introduction 5p deletion syndrome, also called Cri-du-chat syndrome 5p is a rare genetic syndrome with reports up to 36% of patients are associated with…”
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22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome by 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

“…Microdeletions within chromosome 22q11.2 cause a variable phenotype, including DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). About 97% of…”
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Mechanisms for Complex Chromosomal Insertions by 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

“…Chromosomal insertions are genomic rearrangements with a chromosome segment inserted into a non-homologous chromosome or a non-adjacent locus on the same…”
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Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36 by 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

“…Cardiovascular malformations and cardiomyopathy are among the most common phenotypes caused by deletions of chromosome 1p36 which affect approximately 1 in…”
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Corrigendum: Overgrowth Syndromes-Evaluation, Diagnosis, and Management by Manor, Joshua, Lalani, Seema R

“…[This corrects the article DOI: 10.3389/fped.2020.574857.]…”
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Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability by Grau, Christina, Starkovich, Molly, Azamian, Mahshid S, Xia, Fan, Cheung, Sau Wai, Evans, Patricia, Henderson, Alex, Lalani, Seema R, Scott, Daryl A

“…By searching a clinical database of over 60,000 individuals referred for array-based CNV analyses and online resources, we identified four males from three…”
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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 by 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

“…The utilization of genomic information to improve health outcomes is progressively becoming more common in clinical practice. Nonetheless, disparities persist…”
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2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis by 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

“…Broad-scale untargeted biochemical phenotyping is a technology that supplements widely accepted assays, such as organic acid, amino acid, and acylcarnitine…”
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Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture by 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

“…Genomic copy number variation (CNV) plays a major role in various human diseases as well as in normal phenotypic variability. For some recurrent…”
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A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease by 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.

“…Background Chromosomal microarray analysis (CMA) provides an opportunity to understand genetic causes of congenital heart disease (CHD). The methods for…”
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Lung Transplantation for FLNA -Associated Progressive Lung Disease by 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

“…Objective To describe a series of patients with pathogenic variants in FLNA and progressive lung disease necessitating lung transplantation. Study Design We…”
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Phenotypic manifestations of copy number variation in chromosome 16p13.11 by SREENATH NAGAMANI, Sandesh C, EREZ, Ayelet, MALPHRUS, Amy D, ENG, Patricia A, HIXSON, Patricia M, KANG, Sung-Hae L, STANKIEWICZ, Pawel, PATEL, Ankita, SAU WAI CHEUNG, BADER, Patricia, LALANI, Seema R, SCOTT, Daryl A, SCAGLIA, Fernando, PLON, Sharon E, TSAI, Chun-Hui, REIMSCHISEL, Tyler, ROEDER, Elizabeth

“…The widespread clinical utilization of array comparative genome hybridization, has led to the unraveling of many new copy number variations (CNVs). Although…”
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6q22.1 microdeletion and susceptibility to pediatric epilepsy by Szafranski, Przemyslaw, Von Allmen, Gretchen K, Graham, Brett H, Wilfong, Angus A, Kang, Sung-Hae L, Ferreira, Jose A, Upton, Sheila J, Moeschler, John B, Bi, Weimin, Rosenfeld, Jill A, Shaffer, Lisa G, Wai Cheung, Sau, Stankiewicz, Paweł, Lalani, Seema R

“…Genomic copy-number variations (CNVs) constitute an important cause of epilepsies and other human neurological disorders. Recent advancement of technologies…”
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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 by 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.

“…Mutations in CHD7, a chromodomain gene, are present in a majority of individuals with CHARGE syndrome, a multiple anomaly disorder characterized by ocular…”
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A novel CACNA1A variant in a child with early stroke and intractable epilepsy by Gudenkauf, Franciska J., Azamian, Mahshid S., Hunter, Jill V., Nayak, Anuranjita, Lalani, Seema R.

“…Background CACNA1A variants have been described in several disorders that encompass a wide range of neurologic phenotypes, including hemiplegic migraine,…”
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