Overgrowth Syndromes—Evaluation, Diagnosis, and Management

por Manor, Joshua, Lalani, Seema R.
Publicado 2020

Corrigendum: Overgrowth Syndromes—Evaluation, Diagnosis, and Management

por Manor, Joshua, Lalani, Seema R.
Publicado 2020

SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing

por Tariq, Muhammad, Belmont, John W, Lalani, Seema, Smolarek, Teresa, Ware, Stephanie M
Publicado 2011

A novel CACNA1A variant in a child with early stroke and intractable epilepsy

por Gudenkauf, Franciska J., Azamian, Mahshid S., Hunter, Jill V., Nayak, Anuranjita, Lalani, Seema R.
Publicado 2020

Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2)

por Lalani, Seema R, Sahoo, Trilochan, Sanders, Merideth E, Peters, Sarika U, Bejjani, Bassem A
Publicado 2006

Digital necrosis in an infant with severe spinal muscular atrophy

por Carrasco, Diana, Magoulas, Pilar, Scull, Jennifer C., Jarrell, Jill A., Lalani, Seema R., Wangler, Michael F.
Publicado 2019

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 2017

A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder

por Tessadori, Federico, Rehman, Atteeq U., Giltay, Jacques C., Xia, Fan, Streff, Haley, Duran, Karen, Bakkers, Jeroen, Lalani, Seema R., van Haaften, Gijs
Publicado 2019

Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach

por Hinton, Robert B., McBride, Kim L., Bleyl, Steven B., Bowles, Neil E., Border, William L., Garg, Vidu, Smolarek, Teresa A., Lalani, Seema R., Ware, Stephanie M.
Publicado 2015

SNP genotyping to screen for a common deletion in CHARGE Syndrome

por Lalani, Seema R, Safiullah, Arsalan M, Fernbach, Susan D, Phillips, Michael, Bacino, Carlos A, Molinari, Laura M, Glass, Nancy L, Towbin, Jeffrey A, Craigen, William J, Belmont, John W
Publicado 2005

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases

por Pham, Justin, Shaw, Chad, Pursley, Amber, Hixson, Patricia, Sampath, Srirangan, Roney, Erin, Gambin, Tomasz, Kang, Sung-Hae L, Bi, Weimin, Lalani, Seema, Bacino, Carlos, Lupski, James R, Stankiewicz, Pawel, Patel, Ankita, Cheung, Sau-Wai
Publicado 2014

2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

por Kennedy, Adam D., Pappan, Kirk L., Donti, Taraka, Delgado, Mauricio R., Shinawi, Marwan, Pearson, Toni S., Lalani, Seema R., Craigen, William J., Sutton, V. Reid, Evans, Anne M., Sun, Qin, Emrick, Lisa T., Elsea, Sarah H.
Publicado 2019

Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

por Kennedy, Adam D., Pappan, Kirk L., Donti, Taraka, Delgado, Mauricio R., Shinawi, Marwan, Pearson, Toni S., Lalani, Seema R., Craigen, William J., Sutton, V. Reid, Evans, Anne M., Sun, Qin, Emrick, Lisa T., Elsea, Sarah H.
Publicado 2020

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

por 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.
Publicado 2013

Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36

por 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.
Publicado 2014

OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation

por Saida, Ken, Fukuda, Tokiko, Scott, Daryl A., Sengoku, Toru, Ogata, Kazuhiro, Nicosia, Annarita, Hernandez-Garcia, Andres, Lalani, Seema R., Azamian, Mahshid S., Streff, Haley, Liu, Pengfei, Dai, Hongzheng, Mizuguchi, Takeshi, Miyatake, Satoko, Asahina, Miki, Ogata, Tsutomu, Miyake, Noriko, Matsumoto, Naomichi
Publicado 2021

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: Further delineation of the 17p13.3 microdeletion spectrum

por Emrick, Lisa T., Rosenfeld, Jill A., Lalani, Seema R., Jain, Mahim, Desai, Nilesh K., Larson, Austin, Kripps, Kimberly, Vanderver, Adeline, Taft, Ryan J, Bluske, Krista, Denise, Perry, Nagakura, Honey, Immken, LaDonna L., Burrage, Lindsay C., Bacino, Carlos A., Belmont, John W., Lee, Brendan
Publicado 2018

Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy

por 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.
Publicado 2013

Mechanisms for Complex Chromosomal Insertions

por 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.
Publicado 2016

A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease

por 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.
Publicado 2023