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

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome

22q11.2缺失综合征患者的缺失大小和背景遗传变异影响先天性心脏病表型,共纳入3016例患者。

Lin, Jhih-Rong; Miller, Daniella; Luong, Dana; Nelson, Tanner; Crowley, T Blaine; Tran, Oanh T; Thiruvahindrapuram, Bhooma; Hajianpour, Amirhossein; Campbell, Linda; Busa, Tiffany; Heine-Suñer, Damian; García-Miñaúr, Sixto; Fernández, Luis; Murphy, Kieran C; Murphy, Declan; Hawula, Wanda; Angkustsiri, Kathleen; Shashi, Vandana; Schoch, Kelly; Bearden, Carrie E; Tomita Mitchell, Aoy; Mitchell, Michael E; Carmel, Miri; Weizman, Abraham; Michaelovsky, Elena; Gothelf, Doron; van den Bree, Marianne B M; Owen, Michael J; Vorstman, Jacob A S; Boot, Erik; Vingerhoets, Claudia; van Amelsvoort, Therese; Swillen, Ann; Breckpot, Jeroen; Vermeesch, Joris R; Devriendt, Koen; Schneider, Maude; Eliez, Stephan; Digilio, M Cristina; Unolt, Marta; Putotto, Carolina; Marino, Bruno; Pontillo, Maria; Armando, Marco; Vicari, Stefano; Repetto, Gabriela M; Kates, Wendy R; Shprintzen, Robert J; Gur, Raquel E; Zackai, Elaine H; Goldmuntz, Elizabeth; Wang, Tao; Raj, Srilakshmi; Emanuel, Beverly S; McDonald-McGinn, Donna M; Scherer, Stephen C; Bassett, Anne S; Zhang, Zhengdong D; Morrow, Bernice E

Early developmental milestones associated with tics and psychopathological comorbidity: An EMTICS study

与抽动症和精神病理共病相关的早期发育里程碑:一项 EMTICS 研究

Steinberg, Tamar; Feldman-Sadeh, Dana; Apter, Alan; Bronstein, Yael; Elfer, Noa; Carmel, Miri; Michaelovsky, Elena; Weizman, Abraham; Nahon, Matan; Horesh, Danny; Morer, Astrid; Delgar, Blanca Garcia; Schrag, Anette; Fennig, Silvana; Hoekstra, Pieter J; Dietrich, Andrea; Benaroya-Milshtein, Noa

A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variant

由双等位基因 5'-UTR 功能丧失的 CEP83 变异引起的纤毛病,同时伴有 Joubert 综合征和口面指综合征。

Matan M Jean ,Anan Yunis ,Tzofit Elbaz-Biton ,Vadim Dolgin ,Ginat Narkis ,Analia Michaelovsky ,Marina Eskin-Schwartz ,Alexandra A Tsitrina ,Nadav Agam ,Tomer Poleg ,Amit Safran ,Ofek Freund ,Noam Hadar ,Dan Levy ,Ilan Shelef ,Khalil El Amour ,Hagit Flusser ,Ohad S Birk

Automated Analysis of Stereotypical Movements in Videos of Children With Autism Spectrum Disorder

对自闭症谱系障碍儿童视频中刻板动作的自动分析

Barami, Tal; Manelis-Baram, Liora; Kaiser, Hadas; Ilan, Michal; Slobodkin, Aviv; Hadashi, Ofri; Hadad, Dor; Waissengreen, Danel; Nitzan, Tanya; Menashe, Idan; Michaelovsky, Analya; Begin, Michal; Zachor, Ditza A; Sadaka, Yair; Koler, Judah; Zagdon, Dikla; Meiri, Gal; Azencot, Omri; Sharf, Andrei; Dinstein, Ilan

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

22q11.2缺失存在时,精神分裂症风险的遗传因素

Cleynen, Isabelle; Engchuan, Worrawat; Hestand, Matthew S; Heung, Tracy; Holleman, Aaron M; Johnston, H Richard; Monfeuga, Thomas; McDonald-McGinn, Donna M; Gur, Raquel E; Morrow, Bernice E; Swillen, Ann; Vorstman, Jacob A S; Bearden, Carrie E; Chow, Eva W C; van den Bree, Marianne; Emanuel, Beverly S; Vermeesch, Joris R; Warren, Stephen T; Owen, Michael J; Chopra, Pankaj; Cutler, David J; Duncan, Richard; Kotlar, Alex V; Mulle, Jennifer G; Voss, Anna J; Zwick, Michael E; Diacou, Alexander; Golden, Aaron; Guo, Tingwei; Lin, Jhih-Rong; Wang, Tao; Zhang, Zhengdong; Zhao, Yingjie; Marshall, Christian; Merico, Daniele; Jin, Andrea; Lilley, Brenna; Salmons, Harold I; Tran, Oanh; Holmans, Peter; Pardinas, Antonio; Walters, James T R; Demaerel, Wolfram; Boot, Erik; Butcher, Nancy J; Costain, Gregory A; Lowther, Chelsea; Evers, Rens; van Amelsvoort, Therese A M J; van Duin, Esther; Vingerhoets, Claudia; Breckpot, Jeroen; Devriendt, Koen; Vergaelen, Elfi; Vogels, Annick; Crowley, T Blaine; McGinn, Daniel E; Moss, Edward M; Sharkus, Robert J; Unolt, Marta; Zackai, Elaine H; Calkins, Monica E; Gallagher, Robert S; Gur, Ruben C; Tang, Sunny X; Fritsch, Rosemarie; Ornstein, Claudia; Repetto, Gabriela M; Breetvelt, Elemi; Duijff, Sasja N; Fiksinski, Ania; Moss, Hayley; Niarchou, Maria; Murphy, Kieran C; Prasad, Sarah E; Daly, Eileen M; Gudbrandsen, Maria; Murphy, Clodagh M; Murphy, Declan G; Buzzanca, Antonio; Fabio, Fabio Di; Digilio, Maria C; Pontillo, Maria; Marino, Bruno; Vicari, Stefano; Coleman, Karlene; Cubells, Joseph F; Ousley, Opal Y; Carmel, Miri; Gothelf, Doron; Mekori-Domachevsky, Ehud; Michaelovsky, Elena; Weinberger, Ronnie; Weizman, Abraham; Kushan, Leila; Jalbrzikowski, Maria; Armando, Marco; Eliez, Stéphan; Sandini, Corrado; Schneider, Maude; Béna, Frédérique Sloan; Antshel, Kevin M; Fremont, Wanda; Kates, Wendy R; Belzeaux, Raoul; Busa, Tiffany; Philip, Nicole; Campbell, Linda E; McCabe, Kathryn L; Hooper, Stephen R; Schoch, Kelly; Shashi, Vandana; Simon, Tony J; Tassone, Flora; Arango, Celso; Fraguas, David; García-Miñaúr, Sixto; Morey-Canyelles, Jaume; Rosell, Jordi; Suñer, Damià H; Raventos-Simic, Jasna; Epstein, Michael P; Williams, Nigel M; Bassett, Anne S

Risk gene-set and pathways in 22q11.2 deletion-related schizophrenia: a genealogical molecular approach

22q11.2缺失相关精神分裂症的风险基因集和通路:一种基于谱系分子方法的研究

Michaelovsky, Elena; Carmel, Miri; Frisch, Amos; Salmon-Divon, Mali; Pasmanik-Chor, Metsada; Weizman, Abraham; Gothelf, Doron

Progressive hereditary spastic paraplegia caused by a homozygous KY mutation

KY 纯合突变导致的进行性遗传性痉挛性截瘫

Yuval Yogev, Yonatan Perez, Iris Noyman, Anwar Abu Madegem, Hagit Flusser, Zamir Shorer, Eugene Cohen, Leonid Kachko, Analia Michaelovsky, Ruth Birk, Arie Koifman, Max Drabkin, Ohad Wormser, Daniel Halperin, Rotem Kadir, Ohad S Birk

Runs of homozygosity, copy number variation, and risk for depression and suicidal behavior in an Arab Bedouin kindred

阿拉伯贝都因人家族中的纯合性片段、拷贝数变异与抑郁症和自杀行为风险

Melhem, Nadine M; Hamdan, Sami; Klei, Lambertus; Wood, Shawn; Zelazny, Jamie; Frisch, Amos; Weizman, Abraham; Carmel, Miri; Michaelovsky, Elena; Farbstein, Ilana; Wasserman, Danuta; El-Heib, Muhammad; Ferrell, Robert; Apter, Alan; Devlin, Bernie; Brent, David

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3

一项全基因组关联研究旨在寻找22q11.2缺失综合征中法洛四联症的修饰基因,该研究在5q14.3上的GPR98基因座中发现了变异。

Guo, Tingwei; Repetto, Gabriela M; McDonald McGinn, Donna M; Chung, Jonathan H; Nomaru, Hiroko; Campbell, Christopher L; Blonska, Anna; Bassett, Anne S; Chow, Eva W C; Mlynarski, Elisabeth E; Swillen, Ann; Vermeesch, Joris; Devriendt, Koen; Gothelf, Doron; Carmel, Miri; Michaelovsky, Elena; Schneider, Maude; Eliez, Stephan; Antonarakis, Stylianos E; Coleman, Karlene; Tomita-Mitchell, Aoy; Mitchell, Michael E; Digilio, M Cristina; Dallapiccola, Bruno; Marino, Bruno; Philip, Nicole; Busa, Tiffany; Kushan-Wells, Leila; Bearden, Carrie E; Piotrowicz, Małgorzata; Hawuła, Wanda; Roberts, Amy E; Tassone, Flora; Simon, Tony J; van Duin, Esther D A; van Amelsvoort, Thérèse A; Kates, Wendy R; Zackai, Elaine; Johnston, H Richard; Cutler, David J; Agopian, A J; Goldmuntz, Elizabeth; Mitchell, Laura E; Wang, Tao; Emanuel, Beverly S; Morrow, Bernice E

Biological effects of COMT haplotypes and psychosis risk in 22q11.2 deletion syndrome

COMT单倍型与22q11.2缺失综合征精神病风险的生物学效应

Gothelf, Doron; Law, Amanda J; Frisch, Amos; Chen, Jingshan; Zarchi, Omer; Michaelovsky, Elena; Ren-Patterson, Renee; Lipska, Barbara K; Carmel, Miri; Kolachana, Bhaskar; Weizman, Abraham; Weinberger, Daniel R