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

Reclassifying IDUA c.250G>A (p.Gly84Ser): Evidence for a Possible Pseudodeficiency Allele

IDUA c.250G>A (p.Gly84Ser) 的重新分类:可能存在假性缺陷等位基因的证据

Connolly, Christopher; Fisher, Rachel; Yang, Chen; Schelley, Susan; Mendelsohn, Bryce A; Lee, Chung; Ahmad, Ayesha

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

KAT6A综合征:76例致病性KAT6A变异患者的基因型-表型相关性研究

Kennedy, Joanna; Goudie, David; Blair, Edward; Chandler, Kate; Joss, Shelagh; McKay, Victoria; Green, Andrew; Armstrong, Ruth; Lees, Melissa; Kamien, Benjamin; Hopper, Bruce; Tan, Tiong Yang; Yap, Patrick; Stark, Zornitza; Okamoto, Nobuhiko; Miyake, Noriko; Matsumoto, Naomichi; Macnamara, Ellen; Murphy, Jennifer L; McCormick, Elizabeth; Hakonarson, Hakon; Falk, Marni J; Li, Dong; Blackburn, Patrick; Klee, Eric; Babovic-Vuksanovic, Dusica; Schelley, Susan; Hudgins, Louanne; Kant, Sarina; Isidor, Bertrand; Cogne, Benjamin; Bradbury, Kimberley; Williams, Mark; Patel, Chirag; Heussler, Helen; Duff-Farrier, Celia; Lakeman, Phillis; Scurr, Ingrid; Kini, Usha; Elting, Mariet; Reijnders, Margot; Schuurs-Hoeijmakers, Janneke; Wafik, Mohamed; Blomhoff, Anne; Ruivenkamp, Claudia A L; Nibbeling, Esther; Dingemans, Alexander J M; Douine, Emilie D; Nelson, Stanley F; Hempel, Maja; Bierhals, Tatjana; Lessel, Davor; Johannsen, Jessika; Arboleda, Valerie A; Newbury-Ecob, Ruth

An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease

ATP7B 启动子中纯合变异破坏的 MTF1 结合位点可能导致威尔逊病

Heidi I Chen, Karthik A Jagadeesh, Johannes Birgmeier, Aaron M Wenger, Harendra Guturu, Susan Schelley, Jonathan A Bernstein, Gill Bejerano

Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria

HTRA2基因的致病性变异会导致早发性线粒体综合征,并伴有3-甲基戊二酸尿症。

Oláhová, Monika; Thompson, Kyle; Hardy, Steven A; Barbosa, Inês A; Besse, Arnaud; Anagnostou, Maria-Eleni; White, Kathryn; Davey, Tracey; Simpson, Michael A; Champion, Michael; Enns, Greg; Schelley, Susan; Lightowlers, Robert N; Chrzanowska-Lightowlers, Zofia M A; McFarland, Robert; Deshpande, Charu; Bonnen, Penelope E; Taylor, Robert W

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

GNB1基因的种系新生突变会导致严重的神经发育障碍、肌张力低下和癫痫发作。

Petrovski, Slavé; Küry, Sébastien; Myers, Candace T; Anyane-Yeboa, Kwame; Cogné, Benjamin; Bialer, Martin; Xia, Fan; Hemati, Parisa; Riviello, James; Mehaffey, Michele; Besnard, Thomas; Becraft, Emily; Wadley, Alexandrea; Politi, Anya Revah; Colombo, Sophie; Zhu, Xiaolin; Ren, Zhong; Andrews, Ian; Dudding-Byth, Tracy; Schneider, Amy L; Wallace, Geoffrey; Rosen, Aaron B I; Schelley, Susan; Enns, Gregory M; Corre, Pierre; Dalton, Joline; Mercier, Sandra; Latypova, Xénia; Schmitt, Sébastien; Guzman, Edwin; Moore, Christine; Bier, Louise; Heinzen, Erin L; Karachunski, Peter; Shur, Natasha; Grebe, Theresa; Basinger, Alice; Nguyen, Joanne M; Bézieau, Stéphane; Wierenga, Klaas; Bernstein, Jonathan A; Scheffer, Ingrid E; Rosenfeld, Jill A; Mefford, Heather C; Isidor, Bertrand; Goldstein, David B

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

由于双等位基因 TANGO2 突变导致的复发性肌无力伴有横纹肌溶解症、代谢危机和心律失常

Seema R Lalani, Pengfei Liu, Jill A Rosenfeld, Levi B Watkin, Theodore Chiang, Magalie S Leduc, Wenmiao Zhu, Yan Ding, Shujuan Pan, Francesco Vetrini, Christina Y Miyake, Marwan Shinawi, Tomasz Gambin, Mohammad K Eldomery, Zeynep Hande Coban Akdemir, Lisa Emrick, Yael Wilnai, Susan Schelley, Mary Ka

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

RTTN基因突变导致人类原发性小头畸形和原始侏儒症

Shamseldin, Hanan; Alazami, Anas M; Manning, Melanie; Hashem, Amal; Caluseiu, Oana; Tabarki, Brahim; Esplin, Edward; Schelley, Susan; Innes, A Micheil; Parboosingh, Jillian S; Lamont, Ryan; Majewski, Jacek; Bernier, Francois P; Alkuraya, Fowzan S

Exome sequencing for the diagnosis of 46,XY disorders of sex development

外显子组测序用于诊断46,XY性发育异常

Baxter, Ruth M; Arboleda, Valerie A; Lee, Hane; Barseghyan, Hayk; Adam, Margaret P; Fechner, Patricia Y; Bargman, Renee; Keegan, Catherine; Travers, Sharon; Schelley, Susan; Hudgins, Louanne; Mathew, Revi P; Stalker, Heather J; Zori, Roberto; Gordon, Ora K; Ramos-Platt, Leigh; Pawlikowska-Haddal, Anna; Eskin, Ascia; Nelson, Stanley F; Délot, Emmanuèle; Vilain, Eric

Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay

阵列比较基因组杂交技术的临床应用:揭示发育迟缓个体的肿瘤易感性

Adam, Margaret P; Justice, April N; Schelley, Susan; Kwan, Andrea; Hudgins, Louanne; Martin, Christa L