日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing

利用全基因组测序重新分类婴儿死亡的病因

Owen, Mallory J; Wright, Meredith S; Batalov, Sergey; Kwon, Yonghyun; Ding, Yan; Chau, Kevin K; Chowdhury, Shimul; Sweeney, Nathaly M; Kiernan, Elizabeth; Richardson, Andrew; Batton, Emily; Baer, Rebecca J; Bandoli, Gretchen; Gleeson, Joseph G; Bainbridge, Matthew; Chambers, Christina D; Kingsmore, Stephen F

Report of two cases of Schaaf-Yang syndrome: Same genotype and different phenotype

两例Schaaf-Yang综合征病例报告:基因型相同,表型不同

Rodriguez, Ana Maria; Schain, Katherine; Jayakar, Parul; Wright, Meredith S; Chowdhury, Shimul; Salyakina, Daria

Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding

常染色体隐性遗传的LRP1相关综合征,其特征为心肺功能障碍、骨骼畸形和角膜混浊

Mark, Paul R; Murray, Stephen A; Yang, Tao; Eby, Alexandra; Lai, Angela; Lu, Di; Zieba, Jacob; Rajasekaran, Surender; VanSickle, Elizabeth A; Rossetti, Linda Z; Guidugli, Lucia; Watkins, Kelly; Wright, Meredith S; Bupp, Caleb P; Prokop, Jeremy W

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

基于快速测序的硫胺素代谢功能障碍综合征诊断

Owen, Mallory J; Niemi, Anna-Kaisa; Dimmock, David P; Speziale, Mark; Nespeca, Mark; Chau, Kevin K; Van Der Kraan, Luca; Wright, Meredith S; Hansen, Christian; Veeraraghavan, Narayanan; Ding, Yan; Lenberg, Jerica; Chowdhury, Shimul; Hobbs, Charlotte A; Batalov, Sergey; Zhu, Zhanyang; Nahas, Shareef A; Gilmer, Sheldon; Knight, Gail; Lefebvre, Sebastien; Reynders, John; Defay, Thomas; Weir, Jacqueline; Thomson, Vicki S; Fraser, Louise; Lajoie, Bryan R; McPhail, Tim K; Mehtalia, Shyamal S; Kunard, Chris M; Hall, Kevin P; Kingsmore, Stephen F

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

HNRNP基因的罕见有害突变会导致共同的神经发育障碍

Gillentine, Madelyn A; Wang, Tianyun; Hoekzema, Kendra; Rosenfeld, Jill; Liu, Pengfei; Guo, Hui; Kim, Chang N; De Vries, Bert B A; Vissers, Lisenka E L M; Nordenskjold, Magnus; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Gecz, Jozef; Iascone, Maria; Cereda, Anna; Scatigno, Agnese; Maitz, Silvia; Zanni, Ginevra; Bertini, Enrico; Zweier, Christiane; Schuhmann, Sarah; Wiesener, Antje; Pepper, Micah; Panjwani, Heena; Torti, Erin; Abid, Farida; Anselm, Irina; Srivastava, Siddharth; Atwal, Paldeep; Bacino, Carlos A; Bhat, Gifty; Cobian, Katherine; Bird, Lynne M; Friedman, Jennifer; Wright, Meredith S; Callewaert, Bert; Petit, Florence; Mathieu, Sophie; Afenjar, Alexandra; Christensen, Celenie K; White, Kerry M; Elpeleg, Orly; Berger, Itai; Espineli, Edward J; Fagerberg, Christina; Brasch-Andersen, Charlotte; Hansen, Lars Kjærsgaard; Feyma, Timothy; Hughes, Susan; Thiffault, Isabelle; Sullivan, Bonnie; Yan, Shuang; Keller, Kory; Keren, Boris; Mignot, Cyril; Kooy, Frank; Meuwissen, Marije; Basinger, Alice; Kukolich, Mary; Philips, Meredith; Ortega, Lucia; Drummond-Borg, Margaret; Lauridsen, Mathilde; Sorensen, Kristina; Lehman, Anna; Lopez-Rangel, Elena; Levy, Paul; Lessel, Davor; Lotze, Timothy; Madan-Khetarpal, Suneeta; Sebastian, Jessica; Vento, Jodie; Vats, Divya; Benman, L Manace; Mckee, Shane; Mirzaa, Ghayda M; Muss, Candace; Pappas, John; Peeters, Hilde; Romano, Corrado; Elia, Maurizio; Galesi, Ornella; Simon, Marleen E H; van Gassen, Koen L I; Simpson, Kara; Stratton, Robert; Syed, Sabeen; Thevenon, Julien; Palafoll, Irene Valenzuela; Vitobello, Antonio; Bournez, Marie; Faivre, Laurence; Xia, Kun; Earl, Rachel K; Nowakowski, Tomasz; Bernier, Raphael A; Eichler, Evan E

A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway

UDP-半乳糖4'-差向异构酶缺乏症伴造血功能障碍和房室瓣畸形:一种特殊的临床表型,由N-糖基化改变和Leloir途径相对保留所解释

Febres-Aldana, Christopher A; Pelaez, Liset; Wright, Meredith S; Maher, Ossama M; Febres-Aldana, Anthony J; Sasaki, Jun; Jayakar, Parul; Jayakar, Anuj; Diaz-Barbosa, Magaly; Janvier, Michelin; Totapally, Bala; Salyakina, Daria; Galvez-Silva, Jorge R

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.

缬氨酰-tRNA合成酶基因VARS的双等位基因突变与进行性神经发育性癫痫性脑病有关

Friedman Jennifer, Smith Desiree E, Issa Mahmoud Y, Stanley Valentina, Wang Rengang, Mendes Marisa I, Wright Meredith S, Wigby Kristen, Hildreth Amber, Crawford John R, Koehler Alanna E, Chowdhury Shimul, Nahas Shareef, Zhai Liting, Xu Zhiwen, Lo Wing-Sze, James Kiely N, Musaev Damir, Accogli Andrea, Guerrero Kether, Tran Luan T, Omar Tarek E I, Ben-Omran Tawfeg, Dimmock David, Kingsmore Stephen F, Salomons Gajja S, Zaki Maha S, Bernard Geneviève, Gleeson Joseph G

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

利用快速全基因组测序和自动化表型分析与解读技术诊断重症儿童的遗传疾病

Clark, Michelle M; Hildreth, Amber; Batalov, Sergey; Ding, Yan; Chowdhury, Shimul; Watkins, Kelly; Ellsworth, Katarzyna; Camp, Brandon; Kint, Cyrielle I; Yacoubian, Calum; Farnaes, Lauge; Bainbridge, Matthew N; Beebe, Curtis; Braun, Joshua J A; Bray, Margaret; Carroll, Jeanne; Cakici, Julie A; Caylor, Sara A; Clarke, Christina; Creed, Mitchell P; Friedman, Jennifer; Frith, Alison; Gain, Richard; Gaughran, Mary; George, Shauna; Gilmer, Sheldon; Gleeson, Joseph; Gore, Jeremy; Grunenwald, Haiying; Hovey, Raymond L; Janes, Marie L; Lin, Kejia; McDonagh, Paul D; McBride, Kyle; Mulrooney, Patrick; Nahas, Shareef; Oh, Daeheon; Oriol, Albert; Puckett, Laura; Rady, Zia; Reese, Martin G; Ryu, Julie; Salz, Lisa; Sanford, Erica; Stewart, Lawrence; Sweeney, Nathaly; Tokita, Mari; Van Der Kraan, Luca; White, Sarah; Wigby, Kristen; Williams, Brett; Wong, Terence; Wright, Meredith S; Yamada, Catherine; Schols, Peter; Reynders, John; Hall, Kevin; Dimmock, David; Veeraraghavan, Narayanan; Defay, Thomas; Kingsmore, Stephen F

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants

一项关于单例和三例快速基因组和外显子组测序在患病婴儿中分析和诊断性能的随机对照试验

Kingsmore, Stephen F; Cakici, Julie A; Clark, Michelle M; Gaughran, Mary; Feddock, Michele; Batalov, Sergey; Bainbridge, Matthew N; Carroll, Jeanne; Caylor, Sara A; Clarke, Christina; Ding, Yan; Ellsworth, Katarzyna; Farnaes, Lauge; Hildreth, Amber; Hobbs, Charlotte; James, Kiely; Kint, Cyrielle I; Lenberg, Jerica; Nahas, Shareef; Prince, Lance; Reyes, Iris; Salz, Lisa; Sanford, Erica; Schols, Peter; Sweeney, Nathaly; Tokita, Mari; Veeraraghavan, Narayanan; Watkins, Kelly; Wigby, Kristen; Wong, Terence; Chowdhury, Shimul; Wright, Meredith S; Dimmock, David

Neonatal diabetes mellitus due to a novel variant in the INS gene

新生儿糖尿病是由INS基因的一种新变异引起的

Laurenzano, Sarah E; McFall, Cory; Nguyen, Linda; Savla, Dipal; Coufal, Nicole G; Wright, Meredith S; Tokita, Mari; Dimmock, David; Kingsmore, Stephen F; Newfield, Ron S