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

Identification of a Novel Missense Homozygous Variant in LINS1 in Two Distinct Iranian Families With Consanguineous Marriage

在两个具有近亲结婚的伊朗家族中鉴定出LINS1基因中的一种新的错义纯合变异

Alimoradi, Elham; Nejati, Parham; Salmaninejad, Arash; Falsafi, Nafiseh; Molavi, Fatemeh; Alibakhshi, Mohamad Javad; Vairo, Filippo Pinto E; Klee, Eric W; Alibakhshi, Reza

The expanding clinical and genetic spectrum of DYNC1H1-related disorders

DYNC1H1相关疾病的临床和遗传谱不断扩大

Möller, Birk; Becker, Lena-Luise; Saffari, Afshin; Afenjar, Alexandra; Coci, Emanuele G; Williamson, Rachel; Ward-Melver, Catherine; Gibaud, Marc; Sedláčková, Lucie; Laššuthová, Petra; Libá, Zuzana; Vlčková, Markéta; William, Nancy; Klee, Eric W; Gavrilova, Ralitza H; Lévy, Jonathan; Capri, Yline; Scavina, Mena; Körner, Robert Walter; Valivullah, Zaheer; Weiß, Claudia; Möller, Greta Marit; Frazier, Zoë; Roberts, Amy; Gener, Blanca; Scala, Marcello; Striano, Pasquale; Zara, Federico; Thiel, Moritz; Sinnema, Margje; Kamsteeg, Erik-Jan; Donkervoort, Sandra; Duboc, Veronique; Zaafrane-Khachnaoui, Khaoula; Elkhateeb, Nour; Selim, Laila; Margot, Henri; Marin, Victor; Beneteau, Claire; Isidor, Bertrand; Cogne, Benjamin; Keren, Boris; Küsters, Benno; Beggs, Alan H; Sveden, Abigail; Chopra, Maya; Genetti, Casie A; Nicolai, Joost; Dötsch, Jörg; Koy, Anne; Bönnemann, Carsten G; von der Hagen, Maja; von Kleist-Retzow, Jürgen-Christoph; Voermans, Nicol C; Jungbluth, Heinz; Dafsari, Hormos Salimi

UNISOM: Unified Somatic Calling and Machine Learning-based Classification Enhance the Discovery of CHIP

UNISOM:统一体细胞呼叫和基于机器学习的分类增强了染色体异常的发现

Tian, Shulan; Jenkinson, Garrett; Ferrer, Alejandro; Yan, Huihuang; Morales-Rosado, Joel A; Wang, Kevin L; Lasho, Terra L; Yan, Benjamin B; Baheti, Saurabh; Olson, Janet E; Baughn, Linda B; Ding, Wei; Slager, Susan L; Patnaik, Mrinal S; Lazaridis, Konstantinos N; Klee, Eric W

A clinical knowledge graph-based framework to prioritize candidate genes for facilitating diagnosis of Mendelian diseases and rare genetic conditions

基于临床知识图谱的框架,用于优先筛选候选基因,以促进孟德尔遗传病和罕见遗传病的诊断。

Gnanaolivu, Rohan; Oliver, Gavin; Jenkinson, Garrett; Blake, Emily; Chen, Wenan; Chia, Nicholas; Klee, Eric W; Wang, Chen

A case of congenital heart defects and familial exudative vitreoretinopathy caused by activation of a cryptic splice donor in NOTCH1

NOTCH1基因中隐蔽剪接供体激活引起的先天性心脏缺陷和家族性渗出性玻璃体视网膜病变病例

Farris, Joseph; Dergam-Larson, Camila; Lopour, Madeline; Darr, Kahlen; Schimmenti, Lisa A; Scruggs, Brittni A; Lambert, Laura J; Klee, Eric W

Phenotypic Presentation and Longitudinal Characterization of Hereditary ATTRv Amyloidosis in Previously Undiagnosed Family Members

既往未确诊家族成员中遗传性ATTRv淀粉样变性的表型表现和纵向特征

Fazzini, Luca; Castrichini, Matteo; Li, Yan; De Melo, Jose Jr; Figueiral, Marta; Cao, Jenny J; Klee, Eric W; Cadeddu Dessalvi, Christian; Grogan, Martha; Dispenzieri, Angela; Pereira, Naveen L

OmicsFootPrint: a framework to integrate and interpret multi-omics data using circular images and deep neural networks

OmicsFootPrint:一个利用圆形图像和深度神经网络整合和解释多组学数据的框架

Tang, Xiaojia; Prodduturi, Naresh; Thompson, Kevin J; Weinshilboum, Richard; O'Sullivan, Ciara C; Boughey, Judy C; Tizhoosh, Hamid R; Klee, Eric W; Wang, Liewei; Goetz, Matthew P; Suman, Vera; Kalari, Krishna R

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

MARK2 变异通过下调 WNT/β-catenin 信号通路导致自闭症谱系障碍

Gong Maolei, Li Jiayi, Qin Zailong, Machado Bressan Wilke Matheus Vernet, Liu Yijun, Li Qian, Liu Haoran, Liang Chen, Morales-Rosado Joel A, Cohen Ana S A, Hughes Susan S, Sullivan Bonnie R, Waddell Valerie, van den Boogaard Marie-José H, van Jaarsveld Richard H, van Binsbergen Ellen, van Gassen Koen L, Wang Tianyun, Hiatt Susan M, Amaral Michelle D, Kelley Whitley V, Zhao Jianbo, Feng Weixing, Ren Changhong, Yu Yazhen, Boczek Nicole J, Ferber Matthew J, Lahner Carrie, Elliott Sherr, Ruan Yiyan, Mignot Cyril, Keren Boris, Xie Hua, Wang Xiaoyan, Popp Bernt, Zweier Christiane, Piard Juliette, Coubes Christine, Mau-Them Frederic Tran, Safraou Hana, Innes A Micheil, Gauthier Julie, Michaud Jacques L, Koboldt Daniel C, Sylvie Odent, Willems Marjolaine, Tan Wen-Hann, Cogne Benjamin, Rieubland Claudine, Braun Dominique, McLean Scott Douglas, Platzer Konrad, Zacher Pia, Oppermann Henry, Evenepoel Lucie, Blanc Pierre, El Khattabi Laïla, Haque Neshatul, Dsouza Nikita R, Zimmermann Michael T, Urrutia Raul, Klee Eric W, Shen Yiping, Du Hongzhen, Rappaport Leonard, Liu Chang-Mei, Chen Xiaoli

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

CUL3基因功能缺失变异导致综合征性神经发育障碍

Blackburn, Patrick R; Ebstein, Frédéric; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Bénédicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogné, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S; Rosenfeld, Jill A; Faivre, Laurence; Mau-Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B; Madden, Jill A; Goldenberg, Alice; Lecoquierre, François; Zech, Michael; Prokisch, Holger; Necpál, Ján; Jech, Robert; Winkelmann, Juliane; Koprušáková, Monika Turčanová; Konstantopoulou, Vassiliki; Younce, John R; Shinawi, Marwan; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F; Lerner-Ellis, Jordan; DiTroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P A; van der Schoot, Vyne; Brunet, Theresa; Bußmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B; Mayr, Johannes A; Feichtinger, René G; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N; Klee, Eric W; Grand, Katheryn; Sanchez-Lara, Pedro A; Krüger, Elke; Bézieau, Stéphane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E; Tartaglia, Marco; Küry, Sébastien; Wang, Tianyun

Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)

更正:在三级医疗保健系统中实施罕见病基因组医学:梅奥诊所罕见病和未确诊疾病项目 (PRaUD)

Pinto E Vairo, Filippo; Kemppainen, Jennifer L; Vitek, Carolyn R Rohrer; Whalen, Denise A; Kolbert, Kayla J; Sikkink, Kaitlin J; Kroc, Sarah A; Kruisselbrink, Teresa; Shupe, Gabrielle F; Knudson, Alyssa K; Burke, Elizabeth M; Loftus, Elle C; Bandel, Lorelei A; Prochnow, Carri A; Mulvihill, Lindsay A; Thomas, Brittany; Gable, Dale M; Graddy, Courtney B; Garzon, Giovanna G Moreno; Ekpoh, Idara U; Porquera, Eva M Carmona; Fervenza, Fernando C; Hogan, Marie C; El Ters, Mireille; Warrington, Kenneth J; Davis, John M 3rd; Koster, Matthew J; Orandi, Amir B; Basiaga, Matthew L; Vella, Adrian; Kumar, Seema; Creo, Ana L; Lteif, Aida N; Pittock, Siobhan T; Tebben, Peter J; Abate, Ejigayehu G; Joshi, Avni Y; Ristagno, Elizabeth H; Patnaik, Mrinal S; Schimmenti, Lisa A; Dhamija, Radhika; Sabrowsky, Sonia M; Wierenga, Klaas J; Keddis, Mira T; Samadder, Niloy Jewel J; Presutti, Richard J; Robinson, Steven I; Stephens, Michael C; Roberts, Lewis R; Faubion, William A Jr; Driscoll, Sherilyn W; Wong-Kisiel, Lily C; Selcen, Duygu; Flanagan, Eoin P; Ramanan, Vijay K; Jackson, Lauren M; Mauermann, Michelle L; Ortega, Victor E; Anderson, Sarah A; Aoudia, Stacy L; Klee, Eric W; McAllister, Tammy M; Lazaridis, Konstantinos N