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

Birth Outcomes in Women Who Have Taken Vedolizumab in Pregnancy: Results From the Vedolizumab Pregnancy Exposure Registry

妊娠期服用维多珠单抗的女性的分娩结局:来自维多珠单抗妊娠暴露登记研究的结果

Chambers, Christina D; Johnson, Diana L; Luo, Yunjun; Xu, Ronghui; Adam, Margaret P; Braddock, Stephen R; Jones, Kenneth Lyons

Pannexin-1 channel activity regulates neurogenesis and cell survival in the developing cortex

Pannexin-1通道活性调节发育中皮层的神经发生和细胞存活

Hylton, Norma K; Kang, David J; Decker, Steven C; Exposito-Alonso, David; Cambridge, Christie N; Golinski, Sean R; Soriano, Karla I; Neil, Jennifer E; Talukdar, Maya; Andersen, Rebecca E; Buckner, Trenton M; Qian, Xuyu; Doddi, Anusha D; Braddock, Stephen R; DeGennaro, Ellen M; Akula, Shyam K; Simo, Sergi; Smith, Richard S; Walsh, Christopher A

Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.

由双等位基因 COL12A1 变异引起的 XII 型胶原蛋白相关疾病的临床特征

McCarty Riley M, Saade Dimah, Munot Pinki, Laverty Chamindra G, Pinz Hailey, Zou Yaqun, McAnally Meghan, Yun Pomi, Tian Cuixia, Hu Ying, Feng Lucy, Phadke Rahul, Ceulemans Sophia, Magoulas Pilar, Skalsky Andrew J, Friedman Jennifer R, Braddock Stephen R, Neuhaus Sarah B, Malicki Denise M, Bainbridge Matthew N, Nahas Shareef, Dimmock David P, Kingsmore Stephen F, Lotze Timothy E, Foley A Reghan, Muntoni Francesco, Straub Volker, Donkervoort Sandra, Bönnemann Carsten G

Coexistence of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome and heterotaxy in a newborn with athymia

新生儿无胸腺症合并眼裂缺损、心脏缺陷、后鼻孔闭锁、生长迟缓、生殖器异常和耳畸形(CHARGE)综合征和异位症

Patil, Rica; Hunter, Jacquelyn; Knutsen, Alan; Braddock, Stephen R

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

外显子组测序及多小脑回畸形中新基因和共同机制的鉴定

Akula, Shyam K; Chen, Allen Y; Neil, Jennifer E; Shao, Diane D; Mo, Alisa; Hylton, Norma K; DiTroia, Stephanie; Ganesh, Vijay S; Smith, Richard S; O'Kane, Katherine; Yeh, Rebecca C; Marciano, Jack H; Kirkham, Samantha; Kenny, Connor J; Song, Janet H T; Al Saffar, Muna; Millan, Francisca; Harris, David J; Murphy, Andrea V; Klemp, Kara C; Braddock, Stephen R; Brand, Harrison; Wong, Isaac; Talkowski, Michael E; O'Donnell-Luria, Anne; Lai, Abbe; Hill, Robert Sean; Mochida, Ganeshwaran H; Doan, Ryan N; Barkovich, A James; Yang, Edward; Amrom, Dina; Andermann, Eva; Poduri, Annapurna; Walsh, Christopher A

Omenn syndrome in a 10-month-old male with athymia and VACTERL association

一名10个月大的男性患儿患有奥门综合征,伴有无胸腺症和VACTERL综合征

Pangli, Bimaljit K; Braddock, Stephen R; Knutsen, Alan P

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

Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants

伊利诺伊州新生儿庞贝氏症筛查:684,290名婴儿的经验

Burton, Barbara K; Charrow, Joel; Hoganson, George E; Fleischer, Julie; Grange, Dorothy K; Braddock, Stephen R; Hitchins, Lauren; Hickey, Rachel; Christensen, Katherine M; Groepper, Daniel; Shryock, Heather; Smith, Pamela; Shao, Rong; Basheeruddin, Khaja

Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease

Morquio A 型疾病患者颈动脉内膜中层厚度和弹性异常增高

Wang, Raymond Y; Rudser, Kyle D; Dengel, Donald R; Evanoff, Nicholas; Steinberger, Julia; Movsesyan, Nina; Garrett, Robert; Christensen, Katherine; Boylan, Deborah; Braddock, Stephen R; Shinawi, Marwan; Gan, Qi; Montaño, Adriana M

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

WDR37基因的新生变异与癫痫、眼裂缺损、畸形、发育迟缓、智力障碍和小脑发育不全有关

Kanca, Oguz; Andrews, Jonathan C; Lee, Pei-Tseng; Patel, Chirag; Braddock, Stephen R; Slavotinek, Anne M; Cohen, Julie S; Gubbels, Cynthia S; Aldinger, Kimberly A; Williams, Judy; Indaram, Maanasa; Fatemi, Ali; Yu, Timothy W; Agrawal, Pankaj B; Vezina, Gilbert; Simons, Cas; Crawford, Joanna; Lau, C Christopher; Chung, Wendy K; Markello, Thomas C; Dobyns, William B; Adams, David R; Gahl, William A; Wangler, Michael F; Yamamoto, Shinya; Bellen, Hugo J; Malicdan, May Christine V