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

Newborn screening for type 1 diabetes using genome-based risk scores in the Early Check program

在“早期检查计划”中,使用基于基因组的风险评分对新生儿进行1型糖尿病筛查

Gaddis, Nathan C; Kucera, Katerina S; Cope, Heidi L; Carter, Javan K; Forsythe, Ana N; Gwaltney, Angela; Sullivan, Jennifer; Crissman, Blythe; Fraser, Diane P; Page, Grier P; Jalazo, Elizabeth; Law, Jennifer R; Scharfe, Curt; Peay, Holly L

Environmental influences on community participation among people with multiple sclerosis: A mixed methods study

环境因素对多发性硬化症患者社区参与的影响:一项混合方法研究

Yang, Bishan; Molton, Ivan; Humbert, Andrew; Baylor, Carolyn; Gregg, Emma; Ehde, Dawn; Sullivan, Jennifer; Lanz, Elysa; Schiller, Michael; Hurvitz, Philip; Lee, Danbi

Inhibition of NLRP3 Differentially Regulates Blood Pressure and Inflammation in Male versus Female DOCA-Salt Sprague Dawley Rats

NLRP3抑制剂对雄性和雌性DOCA盐Sprague Dawley大鼠的血压和炎症具有不同的调节作用

Elmarakby, Ahmed A; Liss, Cameron M; Sullivan, Kelly; Hanson, Peyton; Belanger, Kasey M; Mohamed, Riyaz; Mattson, David L; Taylor, Erin B; Ryan, Michael J; Sullivan, Jennifer C

Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program

在早期检查计划中扩大新生儿基因组筛查的可行性和临床实用性

Cope, Heidi L; Jalazo, Elizabeth R; Berg, Jonathan S; Sullivan, Jennifer A; Kucera, Katerina S; Shone, Scott M; Frawley, Hannah E; Gwaltney, Angela Y; Forsythe, Ana N; Migliore, Brooke A; Wright, Becca; Moultrie, Rebecca R; Milko, Laura V; Zimmerman, Rebekah S; Kruszka, Paul; Suchy, Sharon F; Begtrup, Amber; Langley, Katherine G; Monaghan, Kristin G; Kraczkowski, Christina; Guenzel, Adam J; McWalter, Kirsty; Hruska, Kathleen S; Bailey, Donald B Jr; Wheeler, Anne C; Raspa, Melissa; Powell, Cynthia M; Peay, Holly L

Development of an AAV-delivered microRNA gene therapy for myotonic dystrophy type 1

开发用于治疗1型强直性肌营养不良症的AAV递送microRNA基因疗法

Tomassy, Giulio S; Fan, Wei; Cao, Shuwen; Luo, Zhengyu; Magli, Alessandro; Zhang, Tracy; Boyle, Kristen; Jackson, Robert; Richards, Brenda; Liu, Dongyu; Rapaport, Franck; Khader, Shameer; Pfister, Edith L; O'Riordan, Catherine; Frederick, Amy; Sullivan, Jennifer; Cao, James; Nageswara Rao, Kollu; Assaf, Basel T; Goulet, Martin; Mueller, Christian

A clinical and genotype-phenotype analysis of MACF1 variants

MACF1变异体的临床和基因型-表型分析

Dekker, Jordy; Schot, Rachel; Aldinger, Kimberly A; Everman, David B; Washington, Camerun; Jones, Julie R; Sullivan, Jennifer A; Spillmann, Rebecca C; Shashi, Vandana; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Mosca-Boidron, Anne-Laure; Perrin, Laurence; Auvin, Stéphane; Zaki, Maha S; Gleeson, Joseph G; Meave, Naomi; Wallace, Cassidy; Nambot, Sophie; Delanne, Julian; Ruggiero, Sarah M; Helbig, Ingo; Fitzgerald, Mark P; Leventer, Richard J; Grange, Dorothy K; Argilli, Emanuela; Sherr, Elliott H; Prakash, Supraja; Neilson, Derek E; Nicita, Francesco; Sferra, Antonella; Bertini, Enrico S; Aiello, Chiara; Brockmann, Knut; Kuranov, Alexander B; Kaulfuss, Silke; Basit, Sulman; Alluqmani, Majed; Almatrafi, Ahmad; Friedman, Jan M; Guimond, Colleen; Mohammed, Faruq; Sharma, Pooja; Goel, Divya; Wirth, Thomas; Anheim, Mathieu; Bahena, Paulina; Koparir, Asuman; Kolokotronis, Konstantinos; Vona, Barbara; Haaf, Thomas; Kunstmann, Erdmute; Maroofian, Reza; Sczakiel, Henrike L; Boschann, Felix; Misra-Isrie, Mala; Louie, Raymond J; Stolerman, Elliot S; Sanchez-Lara, Pedro A; Mergler, Sandra; Oegema, Renske; Zarate, Yuri A; Kariminejad, Ariana; Tajsharghi, Homa; Zeidler, Shimriet; Kievit, Anneke J A; Bouman, Arjan; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Stuurman, Kyra E; Swols, Dayna Morel; Tekin, Mustafa; Upadia, Jariya; Martin, Donna M; Craven, Daniel; Hiatt, Susan M; van de Pol, Laura A; D'Arco, Felice; Margot, Henri; Wilke, Martina; Yousefi, Soheil; Barakat, Tahsin Stefan; van Veghel-Plandsoen, Monique M; Aronica, Eleonora; Anink, Jasper; Rogers, Stephen L; Slep, Kevin C; Doherty, Dan; Dobyns, William B; Mancini, Grazia M S

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

DNA结合亲和力和特异性决定了BCL11B相关疾病的表型多样性

Lessel, Ivana; Baresic, Anja; Chinn, Ivan K; May, Jonathan; Goenka, Anu; Chandler, Kate E; Posey, Jennifer E; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; Calle-Martín, Oscar de la; Capra, Valeria; Cardenas, Paul; Chappé, Céline; Chong, Hey J; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christèle; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K; Gangi, Silvana; George-Abraham, Jaya K; Gucsavas-Calikoglu, Muge; Haack, Tobias B; Hadonou, Medard; Hanker, Britta; Hüning, Irina; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma; Jin, Jay J; Jorge, Alexander A L; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Kölbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M; Leppälä, Juha; Luu, Sharon M; Lyon, Gholson J; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K G; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R; Tolosa, Eva; Lessel, Davor

T cell knockout attenuates HFD-induced increases in blood pressure in female and male Dahl rats

T细胞敲除可减轻高脂饮食引起的雌性和雄性Dahl大鼠血压升高

Ramirez, Lindsey A; Snyder, Elizabeth; Mohamed, Riyaz; Abais-Battad, Justine M; Godley-Boswell, Hannah R; Dasinger, John Henry; Mattson, David L; Brands, Mike W; Baban, Babak; Elmarakby, Ahmed; Ryan, Michael J; Sullivan, Jennifer C

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.

HCN2 相关神经发育障碍:来自患者和非洲爪蟾细胞模型的数据

Houdayer Clara, Phillips A Marie, Chabbert Marie, Bourreau Jennifer, Maroofian Reza, Houlden Henry, Richards Kay, Saadi Nebal Waill, Dad'ová Eliška, Van Bogaert Patrick, Rupin Mailys, Keren Boris, Charles Perrine, Smol Thomas, Riquet Audrey, Pais Lynn, O'Donnell-Luria Anne, VanNoy Grace E, Bayat Allan, Møller Rikke S, Olofsson Kern, Jamra Rami Abou, Syrbe Steffen, Dasouki Majed, Seaver Laurie H, Sullivan Jennifer A, Shashi Vandana, Alkuraya Fowzan S, Poss Alexis F, Spence J Edward, Schnur Rhonda E, Forster Ian C, Mckenzie Chaseley E, Simons Cas, Wang Min, Snell Penny, Kothur Kavitha, Buckley Michael, Roscioli Tony, Elserafy Noha, Dauriat Benjamin, Procaccio Vincent, Henrion Daniel, Lenaers Guy, Colin Estelle, Verbeek Nienke E, Van Gassen Koen L, Legendre Claire, Bonneau Dominique, Reid Christopher A, Howell Katherine B, Ziegler Alban, Legros Christian

Persistent subclinical renal injury in female rats following renal ischemia-reperfusion injury.

雌性大鼠肾脏缺血再灌注损伤后持续存在的亚临床肾损伤

Moronge Desmond, Godley Hannah, Ayulo Victor, Mellott Elisabeth, Elgazzaz Mona, Cooper Gibson, Mohamed Riyaz, Ogbi Safia, Gillis Ellen, Faulkner Jessica L, Sullivan Jennifer C