Search Results - "Ren, Huanan"

Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients by Zhao, Xuechao, Ning, Haofeng, Liu, Lina, Zhu, Chaofeng, Zhang, Yinghui, Sun, Guifang, Ren, Huanan, Kong, Xiangdong

“…Primary periodic paralysis (PPP) is an inherited disorders of ion channel dysfunction characterized by recurrent episodes of flaccid muscle weakness, which can…”
Get full text

A dPCR-NIPT assay for detections of trisomies 21, 18 and 13 in a single-tube reaction-could it replace serum biochemical tests as a primary maternal plasma screening tool? by Dai, Peng, Yang, Yanfeng, Zhao, Ganye, Gu, Zhiqiang, Ren, Huanan, Hu, Shuang, Liu, Ning, Jiao, Weimeng, Li, Jinfang, Kong, Xiangdong

“…The next generation sequencing (NGS) based non-invasive prenatal test (NIPT) has outplayed the traditional serum biochemical tests (SBT) in screen of fetal…”
Get full text

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing by Wang, Xia, Wang, Hui, Sun, Vincent, Tuan, Han-Fang, Keser, Vafa, Wang, Keqing, Ren, Huanan, Lopez, Irma, Zaneveld, Jacques E, Siddiqui, Sorath, Bowles, Stephanie, Khan, Ayesha, Salvo, Jason, Jacobson, Samuel G, Iannaccone, Alessandro, Wang, Feng, Birch, David, Heckenlively, John R, Fishman, Gerald A, Traboulsi, Elias I, Li, Yumei, Wheaton, Dianna, Koenekoop, Robert K, Chen, Rui

“…Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are inherited retinal diseases that cause early onset severe visual impairment. An…”
Get more information

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration by Koenekoop, Robert K, Wang, Hui, Majewski, Jacek, Wang, Xia, Lopez, Irma, Ren, Huanan, Chen, Yiyun, Li, Yumei, Fishman, Gerald A, Genead, Mohammed, Schwartzentruber, Jeremy, Solanki, Naimesh, Traboulsi, Elias I, Cheng, Jingliang, Logan, Clare V, McKibbin, Martin, Hayward, Bruce E, Parry, David A, Johnson, Colin A, Nageeb, Mohammed, Poulter, James A, Mohamed, Moin D, Jafri, Hussain, Rashid, Yasmin, Taylor, Graham R, Keser, Vafa, Mardon, Graeme, Xu, Huidan, Inglehearn, Chris F, Fu, Qing, Toomes, Carmel, Chen, Rui

“…Rui Chen and colleagues identify mutations in NMNAT1 as a new cause of Leber congenital amaurosis. They further show that all examined individuals with NMNAT1…”
Get full text

Estimate of genetic variants using CNV‐Seq for fetuses with oligohydramnios or polyhydramnios by Shi, Panlai, Hou, Yaqin, Chen, Duo, Ren, Huanan, Xia, Yanjie, Kong, Xiangdong

“…Background Oligohydramnios or polyhydramnios, is associated with chromosomal aberrations, particularly aneuploidy. However, its correlation with copy number…”
Get full text

A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa by Sullivan, Lori S, Koboldt, Daniel C, Bowne, Sara J, Lang, Steven, Blanton, Susan H, Cadena, Elizabeth, Avery, Cheryl E, Lewis, Richard A, Webb-Jones, Kaylie, Wheaton, Dianna H, Birch, David G, Coussa, Razck, Ren, Huanan, Lopez, Irma, Chakarova, Christina, Koenekoop, Robert K, Garcia, Charles A, Fulton, Robert S, Wilson, Richard K, Weinstock, George M, Daiger, Stephen P

“…To identify the cause of retinitis pigmentosa (RP) in UTAD003, a large, six-generation Louisiana family with autosomal dominant retinitis pigmentosa (adRP). A…”
Get full text

A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing by Majewski, Jacek, Wang, Zibo, Lopez, Irma, Al Humaid, Sulaiman, Ren, Huanan, Racine, Julie, Bazinet, Alex, Mitchel, Grant, Braverman, Nancy, Koenekoop, Robert K

Get more information

Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population by Coussa, Razek Georges, Chakarova, Christina, Ajlan, Radwan, Taha, Mohammed, Kavalec, Conrad, Gomolin, Julius, Khan, Ayesha, Lopez, Irma, Ren, Huanan, Waseem, Naushin, Kamenarova, Kunka, Bhattacharya, Shomi S., Koenekoop, Robert K.

Get full text

Molecular findings in patients for whole exome sequencing and mitochondrial genome assessment by Sun, Gege, Huang, Wei, Wang, Li, Wu, Jinlin, Zhao, Ganye, Ren, Huanan, Liu, Lina, Kong, Xiangdong

“…•Diagnostic yield of WES and mitochondrial genome assessment was studied.•Proband-only WES provided molecular diagnosis for a large cohort of patients.•WES…”
Get full text

Prenatal exome sequencing for morphologically normal fetus: Should we be doing it? by Gao, Zhi, Zhu, Xiaofan, Ren, Huanan, Wang, Yanfei, Hua, Chunxiao, Kong, Xiangdong

“…We aimed to investigate the yield of prenatal exome sequencing (pES) in morphologically normal fetuses. This retrospective study analyzed 254 families with…”
Get full text

The uncertainty of copy number variants: pregnancy decisions and clinical follow-up by Shi, Panlai, Liang, Hongbin, Hou, Yaqin, Chen, Duo, Ren, Huanan, Wang, Conghui, Xia, Yanjie, Zhang, Da, Leigh, Don, Cram, David S., Kong, Xiangdong

“…Next-generation sequencing for copy number variants is often used as a follow-up investigation of unusual fetal ultrasound results and is capable of detecting…”
Get full text

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia by Kohl, Susanne, Zobor, Ditta, Chiang, Wei-Chieh, Weisschuh, Nicole, Staller, Jennifer, Menendez, Irene Gonzalez, Chang, Stanley, Beck, Susanne C, Garrido, Marina Garcia, Sothilingam, Vithiyanjali, Seeliger, Mathias W, Stanzial, Franco, Benedicenti, Francesco, Inzana, Francesca, Héon, Elise, Vincent, Ajoy, Beis, Jill, Strom, Tim M, Rudolph, Günther, Roosing, Susanne, Hollander, Anneke I den, Cremers, Frans P M, Lopez, Irma, Ren, Huanan, Moore, Anthony T, Webster, Andrew R, Michaelides, Michel, Koenekoop, Robert K, Zrenner, Eberhart, Kaufman, Randal J, Tsang, Stephen H, Wissinger, Bernd, Lin, Jonathan H

“…Susanne Kohl and colleagues report mutations in ATF6 , a regulator of the unfolded protein response pathway, that cause a familial form of achromatopsia. Their…”
Get full text

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling by Chaki, Moumita, Airik, Rannar, Ghosh, Amiya K., Giles, Rachel H., Chen, Rui, Slaats, Gisela G., Wang, Hui, Hurd, Toby W., Zhou, Weibin, Cluckey, Andrew, Gee, Heon Yung, Ramaswami, Gokul, Hong, Chen-Jei, Hamilton, Bruce A., Červenka, Igor, Ganji, Ranjani Sri, Bryja, Vitezslav, Arts, Heleen H., van Reeuwijk, Jeroen, Oud, Machteld M., Letteboer, Stef J.F., Roepman, Ronald, Husson, Hervé, Ibraghimov-Beskrovnaya, Oxana, Yasunaga, Takayuki, Walz, Gerd, Eley, Lorraine, Sayer, John A., Schermer, Bernhard, Liebau, Max C., Benzing, Thomas, Le Corre, Stephanie, Drummond, Iain, Janssen, Sabine, Allen, Susan J., Natarajan, Sivakumar, O’Toole, John F., Attanasio, Massimo, Saunier, Sophie, Antignac, Corinne, Koenekoop, Robert K., Ren, Huanan, Lopez, Irma, Nayir, Ahmet, Stoetzel, Corinne, Dollfus, Helene, Massoudi, Rustin, Gleeson, Joseph G., Andreoli, Sharon P., Doherty, Dan G., Lindstrad, Anna, Golzio, Christelle, Katsanis, Nicholas, Pape, Lars, Abboud, Emad B., Al-Rajhi, Ali A., Lewis, Richard A., Omran, Heymut, Lee, Eva Y.-H.P., Wang, Shaohui, Sekiguchi, JoAnn M., Saunders, Rudel, Johnson, Colin A., Garner, Elizabeth, Vanselow, Katja, Andersen, Jens S., Shlomai, Joseph, Nurnberg, Gudrun, Nurnberg, Peter, Levy, Shawn, Smogorzewska, Agata, Otto, Edgar A., Hildebrandt, Friedhelm

“…Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that affect kidney, retina, and brain. Genetic defects in NPHP gene…”
Get full text

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements by Wang, Feng, Wang, Hui, Tuan, Han-Fang, Nguyen, Duy H., Sun, Vincent, Keser, Vafa, Bowne, Sara J., Sullivan, Lori S., Luo, Hongrong, Zhao, Ling, Wang, Xia, Zaneveld, Jacques E., Salvo, Jason S., Siddiqui, Sorath, Mao, Louise, Wheaton, Dianna K., Birch, David G., Branham, Kari E., Heckenlively, John R., Wen, Cindy, Flagg, Ken, Ferreyra, Henry, Pei, Jacqueline, Khan, Ayesha, Ren, Huanan, Wang, Keqing, Lopez, Irma, Qamar, Raheel, Zenteno, Juan C., Ayala-Ramirez, Raul, Buentello-Volante, Beatriz, Fu, Qing, Simpson, David A., Li, Yumei, Sui, Ruifang, Silvestri, Giuliana, Daiger, Stephen P., Koenekoop, Robert K., Zhang, Kang, Chen, Rui

“…Retinitis pigmentosa (RP) is a devastating form of retinal degeneration, with significant social and professional consequences. Molecular genetic information…”
Get full text

The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families by Keser, Vafa, Khan, Ayesha, Siddiqui, Sorath, Lopez, Irma, Ren, Huanan, Qamar, Raheel, Nadaf, Javad, Majewski, Jacek, Chen, Rui, Koenekoop, Robert K

“…To evaluate consanguineous pedigrees from Pakistan with a clinical diagnosis of nonsyndromic congenital retinal nonattachment (NCRNA) and identify genes…”
Get full text

Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa by Fu, Qing, Wang, Feng, Wang, Hui, Xu, Fei, Zaneveld, Jacques E, Ren, Huanan, Keser, Vafa, Lopez, Irma, Tuan, Han-Fang, Salvo, Jason S, Wang, Xia, Zhao, Li, Wang, Keqing, Li, Yumei, Koenekoop, Robert K, Chen, Rui, Sui, Ruifang

“…Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease; therefore, an accurate molecular diagnosis is essential for appropriate disease treatment…”
Get full text

Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population by Coussa, Razek Georges, Chakarova, Christina, Ajlan, Radwan, Taha, Mohammed, Kavalec, Conrad, Gomolin, Julius, Khan, Ayesha, Lopez, Irma, Ren, Huanan, Waseem, Naushin, Kamenarova, Kunka, Bhattacharya, Shomi S, Koenekoop, Robert K

“…The French Canadian population of Quebec is a unique, well-known founder population with religious, linguistic, and geographic isolation. The genetics of…”
Get full text

Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype–phenotype correlations and unexpected diagnostic revisions by Zaneveld, Jacques, Siddiqui, Sorath, Li, Huajin, Wang, Xia, Wang, Hui, Wang, Keqing, Li, Hui, Ren, Huanan, Lopez, Irma, Dorfman, Allison, Khan, Ayesha, Wang, Feng, Salvo, Jason, Gelowani, Violet, Li, Yumei, Sui, Ruifang, Koenekoop, Robert, Chen, Rui

“…Stargardt macular dystrophy (STGD) results in early central vision loss. We sought to explain the genetic cause of STGD in a cohort of 88 patients from three…”
Get full text

GPR179 Is Required for Depolarizing Bipolar Cell Function and Is Mutated in Autosomal-Recessive Complete Congenital Stationary Night Blindness by Peachey, Neal S., Ray, Thomas A., Florijn, Ralph, Rowe, Lucy B., Sjoerdsma, Trijntje, Contreras-Alcantara, Susana, Baba, Kenkichi, Tosini, Gianluca, Pozdeyev, Nikita, Iuvone, P. Michael, Bojang, Pasano, Pearring, Jillian N., Simonsz, Huibert Jan, van Genderen, Maria, Birch, David G., Traboulsi, Elias I., Dorfman, Allison, Lopez, Irma, Ren, Huanan, Goldberg, Andrew F.X., Nishina, Patsy M., Lachapelle, Pierre, McCall, Maureen A., Koenekoop, Robert K., Bergen, Arthur A.B., Kamermans, Maarten, Gregg, Ronald G.

“…Complete congenital stationary night blindness (cCSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive…”
Get full text

Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities by Zhang, Alice Yang, Mysore, Naveen, Vali, Hojatollah, Koenekoop, Jamie, Cao, Sang Ni, Li, Shen, Ren, Huanan, Keser, Vafa, Lopez-Solache, Irma, Siddiqui, Sorath Noorani, Khan, Ayesha, Mui, Jeannie, Sears, Kelly, Dixon, Jim, Schwartzentruber, Jeremy, Majewski, Jacek, Braverman, Nancy, Koenekoop, Robert K

“…Photoreceptor neuronal degenerations are common, incurable causes of human blindness affecting 1 in 2000 patients worldwide. Only half of all patients are…”
Get full text