Search Results - "Soens, Zachry T"

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland by Zhao, Li, Wang, Feng, Wang, Hui, Li, Yumei, Alexander, Sharon, Wang, Keqing, Willoughby, Colin E., Zaneveld, Jacques E., Jiang, Lichun, Soens, Zachry T., Earle, Philip, Simpson, David, Silvestri, Giuliana, Chen, Rui

“…Retinitis pigmentosa (RP) is a group of inherited retinal disorders characterized by progressive photoreceptor degeneration. An accurate molecular diagnosis is…”
Get full text

Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1 by Soens, Zachry T., Li, Yuanyuan, Zhao, Li, Eblimit, Aiden, Dharmat, Rachayata, Li, Yumei, Chen, Yiyun, Naqeeb, Mohammed, Fajardo, Norma, Lopez, Irma, Sun, Zhaoxia, Koenekoop, Robert K., Chen, Rui

“…Purpose: Leber congenital amaurosis (LCA) is an early-onset form of retinal degeneration. Six of the 22 known LCA genes encode photoreceptor ciliary proteins…”
Get full text

The phenotypic variability of HK1-associated retinal dystrophy by Yuan, Zhisheng, Li, Baiyu, Xu, Mingchu, Chang, Emmanuel Y., Li, Huajin, Yang, Lizhu, Wu, Shijing, Soens, Zachry T., Li, Yumei, Wong, Lee-Jun C., Lewis, Richard A., Sui, Ruifang, Chen, Rui

“…Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells. The…”
Get full text

GRIPT: a novel case-control analysis method for Mendelian disease gene discovery by Wang, Jun, Zhao, Li, Wang, Xia, Chen, Yong, Xu, Mingchu, Soens, Zachry T, Ge, Zhongqi, Wang, Peter Ronghan, Wang, Fei, Chen, Rui

“…Despite rapid progress of next-generation sequencing (NGS) technologies, the disease-causing genes underpinning about half of all Mendelian diseases remain…”
Get full text

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies by Xu, Mingchu, Xie, Yajing (Angela), Abouzeid, Hana, Gordon, Christopher T., Fiorentino, Alessia, Sun, Zixi, Lehman, Anna, Osman, Ihab S., Dharmat, Rachayata, Riveiro-Alvarez, Rosa, Bapst-Wicht, Linda, Babino, Darwin, Arno, Gavin, Busetto, Virginia, Zhao, Li, Li, Hui, Lopez-Martinez, Miguel A., Azevedo, Liliana F., Hubert, Laurence, Pontikos, Nikolas, Eblimit, Aiden, Lorda-Sanchez, Isabel, Kheir, Valeria, Plagnol, Vincent, Oufadem, Myriam, Soens, Zachry T., Yang, Lizhu, Bole-Feysot, Christine, Pfundt, Rolph, Allaman-Pillet, Nathalie, Nitschké, Patrick, Cheetham, Michael E., Lyonnet, Stanislas, Agrawal, Smriti A., Li, Huajin, Pinton, Gaëtan, Michaelides, Michel, Besmond, Claude, Li, Yumei, Yuan, Zhisheng, von Lintig, Johannes, Webster, Andrew R., Le Hir, Hervé, Stoilov, Peter, Black, Graeme, Hall, Georgina, Gillespie, Rachel, Ramsden, Simon, Manson, Forbes, Sergouniotis, Panagiotis, Inglehearn, Chris, Toomes, Carmel, Ali, Manir, McKibbin, Martin, Poulter, James, Lord, Emma, Nemeth, Andrea, Halford, Stephanie, Downes, Susan, Yu, Jing, Amiel, Jeanne, Hardcastle, Alison J., Ayuso, Carmen, Sui, Ruifang, Chen, Rui, Allikmets, Rando, Schorderet, Daniel F.

“…Pre-mRNA splicing factors play a fundamental role in regulating transcript diversity both temporally and spatially. Genetic defects in several spliceosome…”
Get full text

Leveraging splice‐affecting variant predictors and a minigene validation system to identify Mendelian disease‐causing variants among exon‐captured variants of uncertain significance by Soens, Zachry T., Branch, Justin, Wu, Shijing, Yuan, Zhisheng, Li, Yumei, Li, Hui, Wang, Keqing, Xu, Mingchu, Rajan, Lavan, Motta, Fabiana L., Simões, Renata T., Lopez‐Solache, Irma, Ajlan, Radwan, Birch, David G., Zhao, Peiquan, Porto, Fernanda B., Sallum, Juliana, Koenekoop, Robert K., Sui, Ruifang, Chen, Rui

“…The genetic heterogeneity of Mendelian disorders results in a significant proportion of patients that are unable to be assigned a confident molecular diagnosis…”
Get full text

Integrative subcellular proteomic analysis allows accurate prediction of human disease-causing genes by Zhao, Li, Chen, Yiyun, Bajaj, Amol Onkar, Eblimit, Aiden, Xu, Mingchu, Soens, Zachry T, Wang, Feng, Ge, Zhongqi, Jung, Sung Yun, He, Feng, Li, Yumei, Wensel, Theodore G, Qin, Jun, Chen, Rui

“…Proteomic profiling on subcellular fractions provides invaluable information regarding both protein abundance and subcellular localization. When integrated…”
Get full text

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

“…Over 1200 recessive disease genes have been described in humans. The prevalence, allelic architecture, and per-genome load of pathogenic alleles in these genes…”
Get full text

Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy by Porto, Fernanda B O, Jones, Evan M, Branch, Justin, Soens, Zachry T, Maia, Igor Mendes, Sena, Isadora F G, Sampaio, Shirley A M, Simões, Renata T, Chen, Rui

“…Leber congenital amaurosis (LCA) is a severe disease that leads to complete blindness in children, typically before the first year of life. Due to the clinical…”
Get full text

Incidental copy-number variants identified by routine genome testing in a clinical population by Boone, Philip M., Soens, Zachry T., Campbell, Ian M., Stankiewicz, Pawel, Cheung, Sau Wai, Patel, Ankita, Beaudet, Arthur L., Plon, Sharon E., Shaw, Chad A., McGuire, Amy L., Lupski, James R.

“…Purpose: Mutational load of susceptibility variants has not been studied on a genomic scale in a clinical population, nor has the potential to identify these…”
Get full text

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants amongst exon-captured variants of uncertain significance by Soens, Zachry T., Branch, Justin, Wu, Shijing, Yuan, Zhisheng, Li, Yumei, Li, Hui, Wang, Keqing, Xu, Mingchu, Rajan, Lavan, Motta, Fabiana L., Simões, Renata T., Lopez-Solache, Irma, Ajlan, Radwan, Birch, David G., Zhao, Peiquan, Porto, Fernanda B., Sallum, Juliana, Koenekoop, Robert K., Sui, Ruifang, Chen, Rui

“…The genetic heterogeneity of Mendelian disorders results in a significant proportion of patients that are unable to be assigned a confident molecular diagnosis…”
Get full text

Hypomorphic mutations identified in candidate Leber congenital amaurosis disease gene CLUAP1 by Soens, Zachry T., Li, Yuanyuan, Zhao, Li, Eblimit, Aiden, Dharmat, Rachayata, Li, Yumei, Chen, Yiyun, Naqeeb, Mohammed, Fajardo, Norma, Lopez, Irma, Sun, Zhaoxia, Koenekoop, Robert K., Chen, Rui

Get full text