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

Uniparental disomy in a population of 32,067 clinical exome trios

在32,067个临床外显子组三联体人群中发现单亲二体性

Scuffins, Julie; Keller-Ramey, Jennifer; Dyer, Lindsay; Douglas, Ganka; Torene, Rebecca; Gainullin, Vladimir; Juusola, Jane; Meck, Jeanne; Retterer, Kyle

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

阐明SETD1B相关综合征的分子和表型谱

Weerts, Marjolein J A; Lanko, Kristina; Guzmán-Vega, Francisco J; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londoño, Kelly J; Peña-Guerra, Karla A; van Bever, Yolande; van Paassen, Barbara W; Kievit, Anneke; van Slegtenhorst, Marjon; Allen, Nicholas M; Kehoe, Caroline M; Robinson, Hannah K; Pang, Lewis; Banu, Selina H; Zaman, Mashaya; Efthymiou, Stephanie; Houlden, Henry; Järvelä, Irma; Lauronen, Leena; Määttä, Tuomo; Schrauwen, Isabelle; Leal, Suzanne M; Ruivenkamp, Claudia A L; Barge-Schaapveld, Daniela Q C M; Peeters-Scholte, Cacha M P C D; Galehdari, Hamid; Mazaheri, Neda; Sisodiya, Sanjay M; Harrison, Victoria; Sun, Angela; Thies, Jenny; Pedroza, Luis Alberto; Lara-Taranchenko, Yana; Chinn, Ivan K; Lupski, James R; Garza-Flores, Alexandra; McGlothlin, Jeffery; Yang, Lin; Huang, Shaoping; Wang, Xiaodong; Jewett, Tamison; Rosso, Gretchen; Lin, Xi; Mohammed, Shehla; Merritt, J Lawrence 2nd; Mirzaa, Ghayda M; Timms, Andrew E; Scheck, Joshua; Elting, Mariet W; Polstra, Abeltje M; Schenck, Lauren; Ruzhnikov, Maura R Z; Vetro, Annalisa; Montomoli, Martino; Guerrini, Renzo; Koboldt, Daniel C; Mosher, Theresa Mihalic; Pastore, Matthew T; McBride, Kim L; Peng, Jing; Pan, Zou; Willemsen, Marjolein; Koning, Susanne; Turnpenny, Peter D; de Vries, Bert B A; Gilissen, Christian; Pfundt, Rolph; Lees, Melissa; Braddock, Stephen R; Klemp, Kara C; Vansenne, Fleur; van Gijn, Marielle E; Quindipan, Catherine; Deardorff, Matthew A; Hamm, J Austin; Putnam, Abbey M; Baud, Rebecca; Walsh, Laurence; Lynch, Sally A; Baptista, Julia; Person, Richard E; Monaghan, Kristin G; Crunk, Amy; Keller-Ramey, Jennifer; Reich, Adi; Elloumi, Houda Zghal; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Haghshenas, Sadegheh; Maroofian, Reza; Sadikovic, Bekim; Banka, Siddharth; Arold, Stefan T; Barakat, Tahsin Stefan

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

SPOP基因的新生变异导致两种临床表现不同的神经发育障碍

Nabais Sá, Maria J; El Tekle, Geniver; de Brouwer, Arjan P M; Sawyer, Sarah L; Del Gaudio, Daniela; Parker, Michael J; Kanani, Farah; van den Boogaard, Marie-José H; van Gassen, Koen; Van Allen, Margot I; Wierenga, Klaas; Purcarin, Gabriela; Elias, Ellen Roy; Begtrup, Amber; Keller-Ramey, Jennifer; Bernasocchi, Tiziano; van de Wiel, Laurens; Gilissen, Christian; Venselaar, Hanka; Pfundt, Rolph; Vissers, Lisenka E L M; Theurillat, Jean-Philippe P; de Vries, Bert B A

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

NTNG2基因的纯合错义变异(编码突触前Netrin-G2黏附蛋白)会导致一种独特的神经发育障碍。

Dias, Caroline M; Punetha, Jaya; Zheng, Céline; Mazaheri, Neda; Rad, Abolfazl; Efthymiou, Stephanie; Petersen, Andrea; Dehghani, Mohammadreza; Pehlivan, Davut; Partlow, Jennifer N; Posey, Jennifer E; Salpietro, Vincenzo; Gezdirici, Alper; Malamiri, Reza Azizi; Al Menabawy, Nihal M; Selim, Laila A; Vahidi Mehrjardi, Mohammad Yahya; Banu, Selina; Polla, Daniel L; Yang, Edward; Rezazadeh Varaghchi, Jamileh; Mitani, Tadahiro; van Beusekom, Ellen; Najafi, Maryam; Sedaghat, Alireza; Keller-Ramey, Jennifer; Durham, Leslie; Coban-Akdemir, Zeynep; Karaca, Ender; Orlova, Valeria; Schaeken, Lieke L M; Sherafat, Amir; Jhangiani, Shalini N; Stanley, Valentina; Shariati, Gholamreza; Galehdari, Hamid; Gleeson, Joseph G; Walsh, Christopher A; Lupski, James R; Seiradake, Elena; Houlden, Henry; van Bokhoven, Hans; Maroofian, Reza

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome

编码小电导钙激活钾通道SK3的KCNN3基因的功能获得性突变导致齐默尔曼-拉班德综合征

Christiane K Bauer,Pauline E Schneeberger,Fanny Kortüm,Janine Altmüller,Fernando Santos-Simarro,Laura Baker,Jennifer Keller-Ramey,Susan M White,Philippe M Campeau,Karen W Gripp,Kerstin Kutsche

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

铁氧还蛋白还原酶基因的双等位基因突变导致一种新型线粒体病,并伴有视神经萎缩。

Peng, Yanyan; Shinde, Deepali N; Valencia, C Alexander; Mo, Jun-Song; Rosenfeld, Jill; Truitt Cho, Megan; Chamberlin, Adam; Li, Zhuo; Liu, Jie; Gui, Baoheng; Brockhage, Rachel; Basinger, Alice; Alvarez-Leon, Brenda; Heydemann, Peter; Magoulas, Pilar L; Lewis, Andrea M; Scaglia, Fernando; Gril, Solange; Chong, Shuk Ching; Bower, Matthew; Monaghan, Kristin G; Willaert, Rebecca; Plona, Maria-Renee; Dineen, Rich; Milan, Francisca; Hoganson, George; Powis, Zoe; Helbig, Katherine L; Keller-Ramey, Jennifer; Harris, Belinda; Anderson, Laura C; Green, Torrian; Sukoff Rizzo, Stacey J; Kaylor, Julie; Chen, Jiani; Guan, Min-Xin; Sellars, Elizabeth; Sparagana, Steven P; Gibson, James B; Reinholdt, Laura G; Tang, Sha; Huang, Taosheng