Lalani, Seema R: шукати на сайті Z-Library

Seema R. Lalani, Arsalan M. Safiullah, Susan D. Fernbach, Karine G. Harutyunyan, Christina Thaller, Leif E. Peterson, John D. McPherson, Richard A. Gibbs, Lisa D. White, Margaret Hefner, Sandra L.H. D

Рік:

2008

Мова:

english

Файл:

PDF, 155 KB

english, 2008

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

Журнал:

Ananth, Amitha L., Yang, Yaping, Lalani, Seema R., Lotze, Timothy B.

Рік:

2006

Мова:

english

Файл:

PDF, 538 KB

english, 2006

Exome sequencing and functional biology reveal novel mitochondrial disease genes

Penelope E. Bonnen, Arnaud Besse, Tarak Donti, Adithya Raghavan, Seema Lalani, Fernando Scaglia, William J. Craigen, Brett H. Graham

Журнал:

Mitochondrion

Рік:

2012

Мова:

english

Файл:

PDF, 52 KB

english, 2012

An Unusual Cause of Peroneal Neuropathy

Журнал:

Seminars in Pediatric Neurology

Рік:

2014

Мова:

english

Файл:

PDF, 587 KB

english, 2014

Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes

Riley, Kacie N., Catalano, Lisa M., Bernat, John A., Adams, Stacie D., Martin, Donna M., Lalani, Seema R., Patel, Ankita, Burnside, Rachel D., Innis, Jeffrey W., Rudd, M. Katharine

Журнал:

V. Reid Sutton, Karen J. Coveler, Seema R. Lalani, Catherine D. Kashork, Lisa G. Shaffer

Рік:

2015

Мова:

english

Файл:

PDF, 978 KB

english, 2015

Subtelomeric FISH uncovers trisomy 14q32: Lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms

Журнал:

Рік:

2002

Мова:

english

Файл:

PDF, 118 KB

english, 2002

Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions

Seema R. Lalani, David W. Stockton, Carlos Bacino, Laura M. Molinari, Nancy L. Glass, Susan D. Fernbach, Jeffrey A. Towbin, William J. Craigen, John M. Graham Jr, Margaret A. Hefner, Angela E. Lin, Ki

Журнал:

Shay Ben-Shachar, Bhattacharjee M. Bidwa, Lorraine Potocki, Seema R. Lalani

Рік:

2003

Мова:

english

Файл:

PDF, 170 KB

english, 2003

Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies

Журнал:

Ian M. Campbell, Katarzyna E. Kolodziejska, Michael M. Quach, Varina Louise Wolf, Sau Wai Cheung, Seema R. Lalani, Melissa B. Ramocki, Pawel Stankiewicz

Рік:

2009

Мова:

english

Файл:

PDF, 111 KB

english, 2009

TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly

Журнал:

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

Рік:

2011

Мова:

english

Файл:

PDF, 2.79 MB

english, 2011

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

Przemyslaw Szafranski, Christian P. Schaaf, Richard E. Person, Ian B. Gibson, Zhilian Xia, Sangeetha Mahadevan, Joanna Wiszniewska, Carlos A. Bacino, Seema Lalani, Lorraine Potocki, Sung-Hae Kang, Ank

Журнал:

Human Mutation

Рік:

2010

Мова:

english

Файл:

PDF, 511 KB

english, 2010

SNP genotyping to screen for a common deletion in CHARGE Syndrome

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

Журнал:

BMC Medical Genetics

Рік:

2005

Мова:

english

Файл:

PDF, 1.21 MB

english, 2005

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

Журнал:

BMC Medical Genetics

Рік:

2006

Мова:

english

Файл:

PDF, 1.44 MB

english, 2006

Alu-specific microhomology-mediated deletions inCDKL5in females with early-onset seizure disorder

Ayelet Erez, Amina J. Patel, Xueqing Wang, Zhilian Xia, Samarth S. Bhatt, William Craigen, Sau Wai Cheung, Richard A. Lewis, Ping Fang, Sandra L. H. Davenport, Pawel Stankiewicz, Seema R. Lalani

Журнал:

neurogenetics

Рік:

2009

Мова:

english

Файл:

PDF, 299 KB

english, 2009

Phenotypic manifestations of copy number variation in chromosome 16p13.11

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

Журнал:

Рік:

2010

Мова:

english

Файл:

PDF, 452 KB

english, 2010

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Brunetti-Pierri, Nicola, Berg, Jonathan S, Scaglia, Fernando, Belmont, John, Bacino, Carlos A, Sahoo, Trilochan, Lalani, Seema R, Graham, Brett, Lee, Brendan, Shinawi, Marwan

Журнал:

Nature Genetics

Рік:

2008

Мова:

english

Файл:

PDF, 543 KB

english, 2008

Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association

Andrés Hernández-García, Erwin Brosens, Hitisha P. Zaveri, Elisabeth M. de Jong, Zhiyin Yu, Maria Namwanje, Allison Mayle, Caraciolo J. Fernandes, Brendan Lee, Maria Blazo, Seema R. Lalani, Dick Tibbo

Журнал:

Рік:

2012

Мова:

english

Файл:

PDF, 75 KB

english, 2012

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

Журнал:

Рік:

2006

Мова:

english

Файл:

PDF, 560 KB

english, 2006

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

Shay Ben-Shachar, Zhishuo Ou, Chad A. Shaw, John W. Belmont, Millan S. Patel, Marybeth Hummel, Stephen Amato, Nicole Tartaglia, Jonathan Berg, V. Reid Sutton, Seema R. Lalani, A. Craig Chinault, Sau W

Журнал:

Рік:

2008

Мова:

english

Файл:

PDF, 589 KB

english, 2008

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

Lalani, Seema R, Shaw, Chad, Wang, Xueqing, Patel, Ankita, Patterson, Lance W, Kolodziejska, Katarzyna, Szafranski, Przemyslaw, Ou, Zhishuo, Tian, Qi, Kang, Sung-Hae L, Jinnah, Amina, Ali, Sophia, Mal

Журнал:

Рік:

2013

Мова:

english

Файл:

PDF, 423 KB

english, 2013

SHROOM3is a novel candidate for heterotaxy identified by whole exome sequencing

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

Журнал:

Genome Biology

Рік:

2011

Мова:

english

Файл:

PDF, 1.04 MB

english, 2011

Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today’s genomic array era?

Bi, Weimin, Borgan, Caroline, Pursley, Amber N., Hixson, Patricia, Shaw, Chad A., Bacino, Carlos A., Lalani, Seema R., Patel, Ankita, Stankiewicz, Pawel, Lupski, James R., Beaudet, Arthur L., Cheung,

Журнал:

Рік:

2013

Мова:

english

Файл:

PDF, 700 KB

english, 2013

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

Wiszniewska, Joanna, Bi, Weimin, Shaw, Chad, Stankiewicz, Pawel, Kang, Sung-Hae L, Pursley, Amber N, Lalani, Seema, Hixson, Patricia, Gambin, Tomasz, Tsai, Chun-hui, Bock, Hans-Georg, Descartes, Maria

Журнал:

Nagamani, Sandesh C Sreenath, Erez, Ayelet, Bay, Carolyn, Pettigrew, Anjana, Lalani, Seema R, Herman, Kristin, Graham, Brett H, Nowaczyk, Malgorzata JM, Proud, Monica, Craigen, William J, Hopkins, Bob

Рік:

2014

Мова:

english

Файл:

PDF, 2.56 MB

english, 2014

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44

Журнал:

Lalani, Seema R., Belmont, John W.

Рік:

2012

Мова:

english

Файл:

PDF, 236 KB

english, 2012

Genetic basis of congenital cardiovascular malformations

Журнал:

European Journal of Medical Genetics

Рік:

2014

Мова:

english

Файл:

PDF, 518 KB

english, 2014

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

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,

Журнал:

Lalani, Seema R., Zhang, Jing, Schaaf, Christian P., Brown, Chester W., Magoulas, Pilar, Tsai, Anne Chun-Hui, El-Gharbawy, Areeg, Wierenga, Klaas J., Bartholomew, Dennis, Fong, Chin-To, Barbaro-Dieber

Рік:

2014

Мова:

english

Файл:

PDF, 2.09 MB

english, 2014

Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

Журнал:

Рік:

2014

Мова:

english

Файл:

PDF, 389 KB

english, 2014

Aortopathy in the 7q11.23 microduplication syndrome

Parrott, Ashley, James, Jeanne, Goldenberg, Paula, Hinton, Robert B., Miller, Erin, Shikany, Amy, Aylsworth, Arthur S., Kaiser-Rogers, Kathleen, Ferns, Sunita J., Lalani, Seema R., Ware, Stephanie M.

Журнал:

Chanprasert, Sirisak, Smith, Janice L., Hixson, Patricia, Patel, Ankita, Lalani, Seema R.

Рік:

2015

Мова:

english

Файл:

PDF, 808 KB

english, 2015

Heterozygous deletion of exons 18 and 19 of IGF1R in an individual with short stature

Журнал:

Clinical Dysmorphology

Рік:

2014

Мова:

english

Файл:

PDF, 221 KB

english, 2014

The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism

Besse, Arnaud, Wu, Ping, Bruni, Francesco, Donti, Taraka, Graham, Brett H., Craigen, William J., McFarland, Robert, Moretti, Paolo, Lalani, Seema, Scott, Kenneth L., Taylor, Robert W., Bonnen, Penelop

Журнал:

Cell Metabolism

Рік:

2015

Мова:

english

Файл:

PDF, 2.03 MB

english, 2015

WHOLE EXOME SEQUENCING IN CONGENITAL HEART DISEASE REVEALS VARIANTS IN LEFT-RIGHT PATTERNING GENES PREVIOUSLY ASSOCIATED WITH HETEROTAXY SYNDROME AND PRIMARY CILIARY DYSKINESIA

Lopez, Keila N., Li, Alexander H., Hanchard, Neil, Azamian, Mahshid, Lalani, Seema, Dickerson, Heather, Lupski, Jim, Penny, Daniel, Fraser, Charles, Martin, James, Boerwinkle, Eric, Belmont, John W.

Журнал:

Journal of the American College of Cardiology

Рік:

2015

Мова:

english

Файл:

PDF, 289 KB

english, 2015

Isolated Mitochondrial Myopathy Associated With Muscle Coenzyme Q10 Deficiency

Lalani, Seema R., Vladutiu, Georgirene D., Plunkett, Katie, Lotze, Timothy E., Adesina, Adekunle M., Scaglia, Fernando

Журнал:

Archives of Neurology

Рік:

2005

Мова:

english

Файл:

PDF, 140 KB

english, 2005

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, Anki

Журнал:

PLoS Genetics

Рік:

2013

Мова:

english

Файл:

PDF, 1.50 MB

english, 2013

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Lalani, Seema R., Liu, Pengfei, Rosenfeld, Jill A., Watkin, Levi B., Chiang, Theodore, Leduc, Magalie S., Zhu, Wenmiao, Ding, Yan, Pan, Shujuan, Vetrini, Francesco, Miyake, Christina Y., Shinawi, Marw

Журнал:

Рік:

2016

Мова:

english

Файл:

PDF, 1.47 MB

english, 2016

Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome

Sarkar, Arindam, Emrick, Lisa T., Smith, Eboni M., Austin, Elise G., Yang, Yaping, Hunter, Jill V., Scaglia, Fernando, Lalani, Seema R.

Журнал:

Harel, Tamar, Posey, Jennifer E., Graham, Brett H., Walkiewicz, Magdalena, Yang, Yaping, Lalani, Seema R., Belmont, John W.

Рік:

2015

Мова:

english

Файл:

PDF, 1.46 MB

english, 2015

Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant

Журнал:

Jordan, Valerie K., Rosenfeld, Jill A., Lalani, Seema R., Scott, Daryl A.

Рік:

2015

Мова:

english

Файл:

PDF, 317 KB

english, 2015

Duplication of HEY2 in cardiac and neurologic development

Журнал:

Starkovich, Molly, Lalani, Seema R., Mercer, Catherine L., Scott, Daryl A.

Рік:

2015

Мова:

english

Файл:

PDF, 563 KB

english, 2015

Chromosome 5q33 deletions associated with congenital heart defects

Журнал:

Philosophical Transactions Biological Sciences

Рік:

2016

Мова:

english

Файл:

PDF, 191 KB

english, 2016

Current Genetic Testing Tools in Neonatal Medicine

Lalani, Seema R.

Журнал:

Pediatrics & Neonatology

Рік:

2016

Мова:

english

Файл:

PDF, 711 KB

english, 2016

Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects

Cowan, Jason R., Tariq, Muhammad, Shaw, Chad, Rao, Mitchell, Belmont, John W., Lalani, Seema R., Smolarek, Teresa A., Ware, Stephanie M.

Журнал:

Рік:

2016

Мова:

english

Файл:

PDF, 861 KB

english, 2016

Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events

Hanchard, Neil A., Umana, Luis A., D'Alessandro, Lisa, Azamian, Mahshid, Poopola, Mojisola, Morris, Shaine A., Fernbach, Susan, Lalani, Seema R., Towbin, Jeffrey A., Zender, Gloria A., Fitzgerald-Butt

Журнал:

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

Рік:

2017

Мова:

english

Файл:

PDF, 1.73 MB

english, 2017

Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome

Журнал:

Proceedings of the National Academy of Sciences

Рік:

2018

Мова:

english

Файл:

PDF, 1.62 MB

english, 2018

De novo mutations in the SET nuclear proto-oncogene , encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with non-syndromic intellectual disability

Stevens, Servi JC, van der Schoot, Vyne, Leduc, Magalie S, Rinne, Tuula, Lalani, Seema R., Weiss, Marjan M, van Hagen, Johanna M, Lachmeijer, Augusta MA, Stockler-Ipsiroglu, Sylvia G, Lehman, Anna, Br

Журнал:

Human Mutation

Рік:

2018

Мова:

english

Файл:

PDF, 1010 KB

english, 2018

Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature

Smith, Hadley Stevens, Swint, J. Michael, Lalani, Seema R., Yamal, Jose-Miguel, de Oliveira Otto, Marcia C., Castellanos, Stephan, Taylor, Amy, Lee, Brendan H., Russell, Heidi V.

Журнал:

Journal of Cardiovascular Development and Disease

Рік:

2018

Мова:

english

Файл:

PDF, 436 KB

english, 2018

Mechanisms for Complex Chromosomal Insertions

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, R

Журнал:

PLoS Genetics

Рік:

2016

Мова:

english

Файл:

PDF, 2.31 MB

english, 2016

Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability

Grau, Christina, Starkovich, Molly, Azamian, Mahshid S., Xia, Fan, Cheung, Sau Wai, Evans, Patricia, Henderson, Alex, Lalani, Seema R., Scott, Daryl A., van Wouwe, Jacobus P.

Журнал:

PLoS ONE

Рік:

2017

Мова:

english

Файл:

PDF, 2.80 MB

english, 2017

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

Hinton, Robert, McBride, Kim, Bleyl, Steven, Bowles, Neil, Border, William, Garg, Vidu, Smolarek, Teresa, Lalani, Seema, Ware, Stephanie

Журнал:

Рік:

2015

Мова:

english

Файл:

PDF, 773 KB

english, 2015

Copy Number Variants of Undetermined Significance Are Not Associated with Worse Clinical Outcomes in Hypoplastic Left Heart Syndrome

Dailey-Schwartz, Andrew L., Tadros, Hanna J., Azamian, Mahshid Sababi, Lalani, Seema R., Morris, Shaine A., Allen, Hugh D., Kim, Jeffrey J., Landstrom, Andrew P.

Журнал:

The Journal of Pediatrics

Рік:

2018

Мова:

english

Файл:

PDF, 345 KB

english, 2018

Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child

Streff, Haley, Bi, Weimin, Miyake, Christina Y., Colón, Athos G., Adesina, Adekunle M., Lalani, Seema R.

Журнал:

European Journal of Medical Genetics

Рік:

2018

Мова:

english

Файл:

PDF, 810 KB

english, 2018

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

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, Perry, Denise, Nagakura, Hone

Журнал: