Search Results - "ENG, CHRISTINE M."

Next-Generation Sequencing to Diagnose Suspected Genetic Disorders by Adams, David R, Eng, Christine M

“…The technologies and chemistries underlying next-generation sequencing of DNA are evolving rapidly. This review describes the three main approaches to…”
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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing by Yang, Yaping, Muzny, Donna M, Xia, Fan, Niu, Zhiyv, Person, Richard, Ding, Yan, Ward, Patricia, Braxton, Alicia, Wang, Min, Buhay, Christian, Veeraraghavan, Narayanan, Hawes, Alicia, Chiang, Theodore, Leduc, Magalie, Beuten, Joke, Zhang, Jing, He, Weimin, Scull, Jennifer, Willis, Alecia, Landsverk, Megan, Craigen, William J, Bekheirnia, Mir Reza, Stray-Pedersen, Asbjorg, Liu, Pengfei, Wen, Shu, Alcaraz, Wendy, Cui, Hong, Walkiewicz, Magdalena, Reid, Jeffrey, Bainbridge, Matthew, Patel, Ankita, Boerwinkle, Eric, Beaudet, Arthur L, Lupski, James R, Plon, Sharon E, Gibbs, Richard A, Eng, Christine M

“…IMPORTANCE: Clinical whole-exome sequencing is increasingly used for diagnostic evaluation of patients with suspected genetic disorders. OBJECTIVE: To perform…”
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation by Posey, Jennifer E, Harel, Tamar, Liu, Pengfei, Rosenfeld, Jill A, James, Regis A, Coban Akdemir, Zeynep H, Walkiewicz, Magdalena, Bi, Weimin, Xiao, Rui, Ding, Yan, Xia, Fan, Beaudet, Arthur L, Muzny, Donna M, Gibbs, Richard A, Boerwinkle, Eric, Eng, Christine M, Sutton, V. Reid, Shaw, Chad A, Plon, Sharon E, Yang, Yaping, Lupski, James R

“…Of over 7000 patients referred to a diagnostic laboratory, 28% had diagnoses based on DNA sequencing, 5% of whom had two or more diagnoses. Their phenotypes…”
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Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis by Wapner, Ronald J, Martin, Christa Lese, Levy, Brynn, Ballif, Blake C, Eng, Christine M, Zachary, Julia M, Savage, Melissa, Platt, Lawrence D, Saltzman, Daniel, Grobman, William A, Klugman, Susan, Scholl, Thomas, Simpson, Joe Leigh, McCall, Kimberly, Aggarwal, Vimla S, Bunke, Brian, Nahum, Odelia, Patel, Ankita, Lamb, Allen N, Thom, Elizabeth A, Beaudet, Arthur L, Ledbetter, David H, Shaffer, Lisa G, Jackson, Laird

“…This large, systematic study of prenatal diagnosis shows that chromosomal microarray analysis provided additional, clinically significant cytogenetic…”
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Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis by Gomez-Ospina, Natalia, Potter, Carol J., Xiao, Rui, Manickam, Kandamurugu, Kim, Mi-Sun, Kim, Kang Ho, Shneider, Benjamin L., Picarsic, Jennifer L., Jacobson, Theodora A., Zhang, Jing, He, Weimin, Liu, Pengfei, Knisely, A. S., Finegold, Milton J., Muzny, Donna M., Boerwinkle, Eric, Lupski, James R., Plon, Sharon E., Gibbs, Richard A., Eng, Christine M., Yang, Yaping, Washington, Gabriel C., Porteus, Matthew H., Berquist, William E., Kambham, Neeraja, Singh, Ravinder J., Xia, Fan, Enns, Gregory M., Moore, David D.

“…Neonatal cholestasis is a potentially life-threatening condition requiring prompt diagnosis. Mutations in several different genes can cause progressive…”
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Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes by Harel, Tamar, Yoon, Wan Hee, Garone, Caterina, Gu, Shen, Coban-Akdemir, Zeynep, Eldomery, Mohammad K., Posey, Jennifer E., Jhangiani, Shalini N., Rosenfeld, Jill A., Cho, Megan T., Fox, Stephanie, Withers, Marjorie, Brooks, Stephanie M., Chiang, Theodore, Duraine, Lita, Erdin, Serkan, Yuan, Bo, Shao, Yunru, Moussallem, Elie, Lamperti, Costanza, Donati, Maria A., Smith, Joshua D., McLaughlin, Heather M., Eng, Christine M., Walkiewicz, Magdalena, Xia, Fan, Pippucci, Tommaso, Magini, Pamela, Seri, Marco, Zeviani, Massimo, Hirano, Michio, Hunter, Jill V., Srour, Myriam, Zanigni, Stefano, Lewis, Richard Alan, Muzny, Donna M., Lotze, Timothy E., Boerwinkle, Eric, Gibbs, Richard A., Hickey, Scott E., Graham, Brett H., Yang, Yaping, Buhas, Daniela, Martin, Donna M., Potocki, Lorraine, Graziano, Claudio, Bellen, Hugo J., Lupski, James R.

“…ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded mitochondrial membrane protein implicated in mitochondrial dynamics, nucleoid…”
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Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder by Normand, Elizabeth A, Braxton, Alicia, Nassef, Salma, Ward, Patricia A, Vetrini, Francesco, He, Weimin, Patel, Vipulkumar, Qu, Chunjing, Westerfield, Lauren E, Stover, Samantha, Dharmadhikari, Avinash V, Muzny, Donna M, Gibbs, Richard A, Dai, Hongzheng, Meng, Linyan, Wang, Xia, Xiao, Rui, Liu, Pengfei, Bi, Weimin, Xia, Fan, Walkiewicz, Magdalena, Van den Veyver, Ignatia B, Eng, Christine M, Yang, Yaping

“…Exome sequencing is now being incorporated into clinical care for pediatric and adult populations, but its integration into prenatal diagnosis has been more…”
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De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive by Tokita, Mari J., Braxton, Alicia A., Shao, Yunru, Lewis, Andrea M., Vincent, Marie, Küry, Sébastien, Besnard, Thomas, Isidor, Bertrand, Latypova, Xénia, Bézieau, Stéphane, Liu, Pengfei, Motter, Connie S., Melver, Catherine Ward, Robin, Nathaniel H., Infante, Elena M., McGuire, Marianne, El-Gharbawy, Areeg, Littlejohn, Rebecca O., McLean, Scott D., Bi, Weimin, Bacino, Carlos A., Lalani, Seema R., Scott, Daryl A., Eng, Christine M., Yang, Yaping, Schaaf, Christian P., Walkiewicz, Magdalena A.

“…SON is a key component of the spliceosomal complex and a critical mediator of constitutive and alternative splicing. Additionally, SON has been shown to…”
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The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing by Feng, Yanming, Ge, Xiaoyan, Meng, Linyan, Scull, Jennifer, Li, Jianli, Tian, Xia, Zhang, Tao, Jin, Weihong, Cheng, Hanyin, Wang, Xia, Tokita, Mari, Liu, Pengfei, Mei, Hui, Wang, Yue, Li, Fangyuan, Schmitt, Eric S., Zhang, Wei V., Muzny, Donna, Wen, Shu, Chen, Zhao, Yang, Yaping, Beaudet, Arthur L., Liu, Xiaoming, Eng, Christine M., Xia, Fan, Wong, Lee-Jun, Zhang, Jinglan

“…Purpose: To investigate pan-ethnic SMN1 copy-number and sequence variation by hybridization-based target enrichment coupled with massively parallel sequencing…”
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A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing by Cao, Ye, Tokita, Mari J, Chen, Edward S, Ghosh, Rajarshi, Chen, Tiansheng, Feng, Yanming, Gorman, Elizabeth, Gibellini, Federica, Ward, Patricia A, Braxton, Alicia, Wang, Xia, Meng, Linyan, Xiao, Rui, Bi, Weimin, Xia, Fan, Eng, Christine M, Yang, Yaping, Gambin, Tomasz, Shaw, Chad, Liu, Pengfei, Stankiewicz, Pawel

“…Although mosaic variation has been known to cause disease for decades, high-throughput sequencing technologies with the analytical sensitivity to consistently…”
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Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans by Vetrini, Francesco, D’Alessandro, Lisa C.A., Akdemir, Zeynep C., Braxton, Alicia, Azamian, Mahshid S., Eldomery, Mohammad K., Miller, Kathryn, Kois, Chelsea, Sack, Virginia, Shur, Natasha, Rijhsinghani, Asha, Chandarana, Jignesh, Ding, Yan, Holtzman, Judy, Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Eng, Christine M., Hanchard, Neil A., Harel, Tamar, Rosenfeld, Jill A., Belmont, John W., Lupski, James R., Yang, Yaping

“…Disruption of the establishment of left-right (L-R) asymmetry leads to situs anomalies ranging from situs inversus totalis (SIT) to situs ambiguus…”
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Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations by Wang, Xia, Charng, Wu-Lin, Chen, Chun-An, Rosenfeld, Jill A, Al Shamsi, Aisha, Al-Gazali, Lihadh, McGuire, Marianne, Mew, Nicholas Ah, Arnold, Georgianne L, Qu, Chunjing, Ding, Yan, Muzny, Donna M, Gibbs, Richard A, Eng, Christine M, Walkiewicz, Magdalena, Xia, Fan, Plon, Sharon E, Lupski, James R, Schaaf, Christian P, Yang, Yaping

“…Christian Schaaf, Yaping Yang and colleagues report that germline mutations in ABL1 , which is best known as part of the fusion gene BCR-ABL1 on the…”
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Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome by 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, Tina, Kukolich, Mary K., Burrage, Lindsay C., Austin, Elise, Keller, Kory, Pastore, Matthew, Fernandez, Fabio, Lotze, Timothy, Wilfong, Angus, Purcarin, Gabriela, Zhu, Wenmiao, Craigen, William J., McGuire, Marianne, Jain, Mahim, Cooney, Erin, Azamian, Mahshid, Bainbridge, Matthew N., Muzny, Donna M., Boerwinkle, Eric, Person, Richard E., Niu, Zhiyv, Eng, Christine M., Lupski, James R., Gibbs, Richard A., Beaudet, Arthur L., Yang, Yaping, Wang, Meng C., Xia, Fan

“…5q31.3 microdeletion syndrome is characterized by neonatal hypotonia, encephalopathy with or without epilepsy, and severe developmental delay, and the minimal…”
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Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry by Hopkin, Robert J, Bissler, John, Banikazemi, Maryam, Clarke, Lorne, Eng, Christine M, Germain, Dominique P, Lemay, Roberta, Tylki-Szymanska, Anna, Wilcox, William R

“…Fabry disease is an X-linked lysosomal disease caused by deficiency of α-galactosidase A. Signs and symptoms of Fabry disease occurring during childhood and…”
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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders by YAPING YANG, MUZNY, Donna M, HARDISON, Matthew, PERSON, Richard, MIR REZA BEKHEIRNIA, LEDUC, Magalie S, KIRBY, Amelia, PHAM, Peter, SCULL, Jennifer, MIN WANG, YAN DING, PLON, Sharon E, REID, Jeffrey G, LUPSKI, James R, BEAUDET, Arthur L, GIBBS, Richard A, ENG, Christine M, BAINBRIDGE, Matthew N, WILLIS, Alecia, WARD, Patricia A, BRAXTON, Alicia, BEUTEN, Joke, FAN XIA, NIU, Zhiyv

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Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases by Dharmadhikari, Avinash V, Ghosh, Rajarshi, Yuan, Bo, Liu, Pengfei, Dai, Hongzheng, Al Masri, Sami, Scull, Jennifer, Posey, Jennifer E, Jiang, Allen H, He, Weimin, Vetrini, Francesco, Braxton, Alicia A, Ward, Patricia, Chiang, Theodore, Qu, Chunjing, Gu, Shen, Shaw, Chad A, Smith, Janice L, Lalani, Seema, Stankiewicz, Pawel, Cheung, Sau-Wai, Bacino, Carlos A, Patel, Ankita, Breman, Amy M, Wang, Xia, Meng, Linyan, Xiao, Rui, Xia, Fan, Muzny, Donna, Gibbs, Richard A, Beaudet, Arthur L, Eng, Christine M, Lupski, James R, Yang, Yaping, Bi, Weimin

“…Exome sequencing (ES) has been successfully applied in clinical detection of single nucleotide variants (SNVs) and small indels. However, identification of…”
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Clinical and molecular characterization of de novo loss of function variants in HNRNPU by Leduc, Magalie S., Chao, Hsiao‐Tuan, Qu, Chunjing, Walkiewicz, Magdalena, Xiao, Rui, Magoulas, Pilar, Pan, Shujuan, Beuten, Joke, He, Weimin, Bernstein, Jonathan A., Schaaf, Christian P., Scaglia, Fernando, Eng, Christine M., Yang, Yaping

“…DNA alterations in the 1q43‐q44 region are associated with syndromic neurodevelopmental disorders characterized by global developmental delay, intellectual…”
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Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel by Chiang, Theodore, Liu, Xiuping, Wu, Tsung-Jung, Hu, Jianhong, Sedlazeck, Fritz J., White, Simon, Schaid, Daniel, Andrade, Mariza de, Jarvik, Gail P., Crosslin, David, Stanaway, Ian, Carrell, David S., Connolly, John J., Hakonarson, Hakon, Groopman, Emily E., Gharavi, Ali G., Fedotov, Alexander, Bi, Weimin, Leduc, Magalie S., Murdock, David R., Jiang, Yunyun, Meng, Linyan, Eng, Christine M., Wen, Shu, Yang, Yaping, Muzny, Donna M., Boerwinkle, Eric, Salerno, William, Venner, Eric, Gibbs, Richard A.

“…To provide a validated method to confidently identify exon-containing copy-number variants (CNVs), with a low false discovery rate (FDR), in targeted…”
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CffDNA screening for Niemann-pick disease, type C1: a case series by Lau, Sydney A, Fawaz, Romy I, Rigobello, Robert, Bawazeer, Shahad, Alajaji, Nouf M, Faqeih, Eissa, Li, Yanchun, Feng, Yanming, Xia, Fan, Eng, Christine M, Abedalthagafi, Malak

“…Cell-free fetal DNA (cffDNA) screening is a valuable tool in clinical practice for detecting chromosomal abnormalities and autosomal dominant (AD) conditions…”
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De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea by Xia, Fan, Bainbridge, Matthew N., Tan, Tiong Yang, Wangler, Michael F., Scheuerle, Angela E., Zackai, Elaine H., Harr, Margaret H., Sutton, V. Reid, Nalam, Roopa L., Zhu, Wenmiao, Nash, Margot, Ryan, Monique M., Yaplito-Lee, Joy, Hunter, Jill V., Deardorff, Matthew A., Penney, Samantha J., Beaudet, Arthur L., Plon, Sharon E., Boerwinkle, Eric A., Lupski, James R., Eng, Christine M., Muzny, Donna M., Yang, Yaping, Gibbs, Richard A.

“…Clinical whole-exome sequencing (WES) for identification of mutations leading to Mendelian disease has been offered to the medical community since 2011…”
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