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

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome

在包含 104 名 Wiedemann-Steiner 综合征患者的多元化队列中,扩展了基因型和表型谱。

Sheppard, Sarah E; Campbell, Ian M; Harr, Margaret H; Gold, Nina; Li, Dong; Bjornsson, Hans T; Cohen, Julie S; Fahrner, Jill A; Fatemi, Ali; Harris, Jacqueline R; Nowak, Catherine; Stevens, Cathy A; Grand, Katheryn; Au, Margaret; Graham, John M Jr; Sanchez-Lara, Pedro A; Campo, Miguel Del; Jones, Marilyn C; Abdul-Rahman, Omar; Alkuraya, Fowzan S; Bassetti, Jennifer A; Bergstrom, Katherine; Bhoj, Elizabeth; Dugan, Sarah; Kaplan, Julie D; Derar, Nada; Gripp, Karen W; Hauser, Natalie; Innes, A Micheil; Keena, Beth; Kodra, Neslida; Miller, Rebecca; Nelson, Beverly; Nowaczyk, Malgorzata J; Rahbeeni, Zuhair; Ben-Shachar, Shay; Shieh, Joseph T; Slavotinek, Anne; Sobering, Andrew K; Abbott, Mary-Alice; Allain, Dawn C; Amlie-Wolf, Louise; Au, Ping Yee Billie; Bedoukian, Emma; Beek, Geoffrey; Barry, James; Berg, Janet; Bernstein, Jonathan A; Cytrynbaum, Cheryl; Chung, Brian Hon-Yin; Donoghue, Sarah; Dorrani, Naghmeh; Eaton, Alison; Flores-Daboub, Josue A; Dubbs, Holly; Felix, Carolyn A; Fong, Chin-To; Fung, Jasmine Lee Fong; Gangaram, Balram; Goldstein, Amy; Greenberg, Rotem; Ha, Thoa K; Hersh, Joseph; Izumi, Kosuke; Kallish, Staci; Kravets, Elijah; Kwok, Pui-Yan; Jobling, Rebekah K; Knight Johnson, Amy E; Kushner, Jessica; Lee, Bo Hoon; Levin, Brooke; Lindstrom, Kristin; Manickam, Kandamurugu; Mardach, Rebecca; McCormick, Elizabeth; McLeod, D Ross; Mentch, Frank D; Minks, Kelly; Muraresku, Colleen; Nelson, Stanley F; Porazzi, Patrizia; Pichurin, Pavel N; Powell-Hamilton, Nina N; Powis, Zoe; Ritter, Alyssa; Rogers, Caleb; Rohena, Luis; Ronspies, Carey; Schroeder, Audrey; Stark, Zornitza; Starr, Lois; Stoler, Joan; Suwannarat, Pim; Velinov, Milen; Weksberg, Rosanna; Wilnai, Yael; Zadeh, Neda; Zand, Dina J; Falk, Marni J; Hakonarson, Hakon; Zackai, Elaine H; Quintero-Rivera, Fabiola

Update of variants identified in the pancreatic β-cell K(ATP) channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

更新先天性高胰岛素血症和糖尿病患者胰岛β细胞K(ATP)通道基因KCNJ11和ABCC8中发现的变异

De Franco, Elisa; Saint-Martin, Cécile; Brusgaard, Klaus; Knight Johnson, Amy E; Aguilar-Bryan, Lydia; Bowman, Pamela; Arnoux, Jean-Baptiste; Larsen, Annette Rønholt; Sanyoura, May; Greeley, Siri Atma W; Calzada-León, Raúl; Harman, Bradley; Houghton, Jayne A L; Nishimura-Meguro, Elisa; Laver, Thomas W; Ellard, Sian; Del Gaudio, Daniela; Christesen, Henrik Thybo; Bellanné-Chantelot, Christine; Flanagan, Sarah E

GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants

美国单基因糖尿病登记处中的GCK-MODY:27种未发表变异的描述

Sanyoura, May; Letourneau, Lisa; Knight Johnson, Amy E; Del Gaudio, Daniela; Greeley, Siri Atma W; Philipson, Louis H; Naylor, Rochelle N

A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation

一个患有脊髓小脑性共济失调和视网膜色素变性的家族,其病因归因于ELOVL4基因突变

Xiao, Changrui; Binkley, Elaine M; Rexach, Jessica; Knight-Johnson, Amy; Khemani, Pravin; Fogel, Brent L; Das, Soma; Stone, Edwin M; Gomez, Christopher M

Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma

恶性间皮瘤中癌症易感基因种系突变的频率

Panou, Vasiliki; Gadiraju, Meghana; Wolin, Arthur; Weipert, Caroline M; Skarda, Emily; Husain, Aliya N; Patel, Jyoti D; Rose, Buerkley; Zhang, Shannon R; Weatherly, Madison; Nelakuditi, Viswateja; Knight Johnson, Amy; Helgeson, Maria; Fischer, David; Desai, Arpita; Sulai, Nanna; Ritterhouse, Lauren; Røe, Oluf D; Turaga, Kiran K; Huo, Dezheng; Segal, Jeremy; Kadri, Sabah; Li, Zejuan; Kindler, Hedy L; Churpek, Jane E

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

通过异常值方法,对 41 个临床实验室在 ClinVar 数据库中变异分类差异的分辨率进行缩放。

Harrison, Steven M; Dolinksy, Jill S; Chen, Wenjie; Collins, Christin D; Das, Soma; Deignan, Joshua L; Garber, Kathryn B; Garcia, John; Jarinova, Olga; Knight Johnson, Amy E; Koskenvuo, Juha W; Lee, Hane; Mao, Rong; Mar-Heyming, Rebecca; McFaddin, Andrew S; Moyer, Krista; Nagan, Narasimhan; Rentas, Stefan; Santani, Avni B; Seppälä, Eija H; Shirts, Brian H; Tidwell, Timothy; Topper, Scott; Vincent, Lisa M; Vinette, Kathy; Rehm, Heidi L

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

美国实验室基因组测序检测结果解读和报告流程现状调查

O'Daniel, Julianne M; McLaughlin, Heather M; Amendola, Laura M; Bale, Sherri J; Berg, Jonathan S; Bick, David; Bowling, Kevin M; Chao, Elizabeth C; Chung, Wendy K; Conlin, Laura K; Cooper, Gregory M; Das, Soma; Deignan, Joshua L; Dorschner, Michael O; Evans, James P; Ghazani, Arezou A; Goddard, Katrina A; Gornick, Michele; Farwell Hagman, Kelly D; Hambuch, Tina; Hegde, Madhuri; Hindorff, Lucia A; Holm, Ingrid A; Jarvik, Gail P; Knight Johnson, Amy; Mighion, Lindsey; Morra, Massimo; Plon, Sharon E; Punj, Sumit; Richards, C Sue; Santani, Avni; Shirts, Brian H; Spinner, Nancy B; Tang, Sha; Weck, Karen E; Wolf, Susan M; Yang, Yaping; Rehm, Heidi L

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

临床实验室通力合作,解决提交给 ClinVar 的变异解读差异。

Harrison, Steven M; Dolinsky, Jill S; Knight Johnson, Amy E; Pesaran, Tina; Azzariti, Danielle R; Bale, Sherri; Chao, Elizabeth C; Das, Soma; Vincent, Lisa; Rehm, Heidi L

A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding

一种与克利夫斯特拉综合征相关的新型变异影响EHMT1锚蛋白重复序列中保守的TPLX基序,导致蛋白质折叠异常。

Blackburn, Patrick R; Tischer, Alexander; Zimmermann, Michael T; Kemppainen, Jennifer L; Sastry, Sujatha; Knight Johnson, Amy E; Cousin, Margot A; Boczek, Nicole J; Oliver, Gavin; Misra, Vinod K; Gavrilova, Ralitza H; Lomberk, Gwen; Auton, Matthew; Urrutia, Raul; Klee, Eric W