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

Clinical and Molecular Differences of Hypertensive Disorders During Pregnancy

妊娠期高血压疾病的临床和分子差异

Horii, Mariko; Morey, Robert; Chousal, Jennifer N; Edlabadkar, Anushka; Hakim, Abbas; Liu, Tzu Ning; Meads, Morgan; Stanley, Valentina; La Belle, Samantha; Adkins, Sierra; Lamale-Smith, Leah; Wolf, Richard B; Aisagbonhi, Omonigho; Jacobs, Marni B

Determinants of Placental Versus Maternal Preeclampsia

胎盘源性与母体源性子痫前期的决定因素

Aisagbonhi, Omonigho; Jacobs, Marni B; Meads, Morgan; Stanley, Valentina; Lamale-Smith, Leah M; Emeruwa, Ukachi N; Laurent, Louise C; Fisch, Kathleen M; Horii, Mariko

Identification of Novel Mosaic Variants in Focal Epilepsy-Associated Patients' Brain Lesions

局灶性癫痫相关患者脑病变中新型嵌合变异的鉴定

Garcia, Camila Araújo Bernardino; Zubair, Muhammad; Santos, Marcelo Volpon; Lee, Sang Hyun; Graham, Ian Alfred; Stanley, Valentina; George, Renee D; Gleeson, Joseph G; Machado, Hélio Rubens; Yang, Xiaoxu

Risk of meningomyelocele mediated by the common 22q11.2 deletion

常见的22q11.2缺失介导的脊髓脊膜膨出风险

Vong, Keng Ioi; Lee, Sangmoon; Au, Kit Sing; Crowley, T Blaine; Capra, Valeria; Martino, Jeremiah; Haller, Meade; Araújo, Camila; Machado, Hélio R; George, Renee; Gerding, Bryn; James, Kiely N; Stanley, Valentina; Jiang, Nan; Alu, Kameron; Meave, Naomi; Nidhiry, Anna S; Jiwani, Fiza; Tang, Isaac; Nisal, Ashna; Jhamb, Ishani; Patel, Arzoo; Patel, Aakash; McEvoy-Venneri, Jennifer; Barrows, Chelsea; Shen, Celina; Ha, Yoo-Jin; Howarth, Robyn; Strain, Madison; Ashley-Koch, Allison Elizabeth; Azam, Matloob; Mumtaz, Sara; Bot, Gyang Markus; Finnell, Richard H; Kibar, Zoha; Marwan, Ahmed I; Melikishvili, Gia; Meltzer, Hal S; Mutchinick, Osvaldo M; Stevenson, David A; Mroczkowski, Henry J; Ostrander, Betsy; Schindewolf, Erica; Moldenhauer, Julie; Zackai, Elaine H; Emanuel, Beverly S; Garcia-Minaur, Sixto; Nowakowska, Beata A; Stevenson, Roger E; Zaki, Maha S; Northrup, Hope; McNamara, Hanna K; Aldinger, Kimberly A; Phelps, Ian G; Deng, Mei; Glass, Ian A; Morrow, Bernice; McDonald-McGinn, Donna M; Sanna-Cherchi, Simone; Lamb, Dolores J; Gleeson, Joseph G

6556 Does Autoimmune Hashimoto’s Hypothyroidism Mask the Diagnosis of Ehlers-Danlos-Syndrome?

6556 自身免疫性桥本甲状腺功能减退症是否会掩盖埃勒斯-当洛斯综合征的诊断?

De Mori, Roberta; Severino, Mariasavina; Mancardi, Maria Margherita; Anello, Danila; Tardivo, Silvia; Biagini, Tommaso; Capra, Valeria; Casella, Antonella; Cereda, Cristina; Copeland, Brett R; Gagliardi, Stella; Gamucci, Alessandra; Ginevrino, Monia; Illi, Barbara; Lorefice, Elisa; Musaev, Damir; Stanley, Valentina; Micalizzi, Alessia; Gleeson, Joseph G; Mazza, Tommaso; Rossi, Andrea; Valente, Enza Maria; Azmat, Shazia; Rafat, Ummara; Gilden, Janice L

A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion

由Wnt分泌缺陷引起的人类多器官多效性疾病

Chai, Guoliang; Szenker-Ravi, Emmanuelle; Chung, Changuk; Li, Zhen; Wang, Lu; Khatoo, Muznah; Marshall, Trevor; Jiang, Nan; Yang, Xiaoxu; McEvoy-Venneri, Jennifer; Stanley, Valentina; Anzenberg, Paula; Lang, Nhi; Wazny, Vanessa; Yu, Jia; Virshup, David M; Nygaard, Rie; Mancia, Filippo; Merdzanic, Rijad; Toralles, Maria B P; Pitanga, Paula M L; Puri, Ratna D; Hernan, Rebecca; Chung, Wendy K; Bertoli-Avella, Aida M; Al-Sannaa, Nouriya; Zaki, Maha S; Willert, Karl; Reversade, Bruno; Gleeson, Joseph G

Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

作者更正:NARS1 的缺失会损害皮质脑类器官中的祖细胞增殖,并导致小头畸形。

Wang, Lu; Li, Zhen; Sievert, David; Smith, Desirée E C; Mendes, Marisa I; Chen, Dillon Y; Stanley, Valentina; Ghosh, Shereen; Wang, Yulu; Kara, Majdi; Aslanger, Ayca Dilruba; Rosti, Rasim O; Houlden, Henry; Salomons, Gajja S; Gleeson, Joseph G

ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies

ABHD16A 缺陷会导致一种复杂的遗传性痉挛性截瘫,并伴有智力障碍和脑部异常。

Lemire, Gabrielle; Ito, Yoko A; Marshall, Aren E; Chrestian, Nicolas; Stanley, Valentina; Brady, Lauren; Tarnopolsky, Mark; Curry, Cynthia J; Hartley, Taila; Mears, Wendy; Derksen, Alexa; Rioux, Nadie; Laflamme, Nataly; Hutchison, Harrol T; Pais, Lynn S; Zaki, Maha S; Sultan, Tipu; Dane, Adrie D; Gleeson, Joseph G; Vaz, Frédéric M; Kernohan, Kristin D; Bernard, Geneviève; Boycott, Kym M

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

KARS1基因的双等位基因变异与神经发育障碍和听力损失相关,这种现象在斑马鱼基因敲除模型中得到了重现。

Lin, Sheng-Jia; Vona, Barbara; Barbalho, Patricia G; Kaiyrzhanov, Rauan; Maroofian, Reza; Petree, Cassidy; Severino, Mariasavina; Stanley, Valentina; Varshney, Pratishtha; Bahena, Paulina; Alzahrani, Fatema; Alhashem, Amal; Pagnamenta, Alistair T; Aubertin, Gudrun; Estrada-Veras, Juvianee I; Hernández, Héctor Adrián Díaz; Mazaheri, Neda; Oza, Andrea; Thies, Jenny; Renaud, Deborah L; Dugad, Sanmati; McEvoy, Jennifer; Sultan, Tipu; Pais, Lynn S; Tabarki, Brahim; Villalobos-Ramirez, Daniel; Rad, Aboulfazl; Galehdari, Hamid; Ashrafzadeh, Farah; Sahebzamani, Afsaneh; Saeidi, Kolsoum; Torti, Erin; Elloumi, Houda Z; Mora, Sara; Palculict, Timothy B; Yang, Hui; Wren, Jonathan D; Ben Fowler; Joshi, Manali; Behra, Martine; Burgess, Shawn M; Nath, Swapan K; Hanna, Michael G; Kenna, Margaret; Merritt, J Lawrence 2nd; Houlden, Henry; Karimiani, Ehsan Ghayoor; Zaki, Maha S; Haaf, Thomas; Alkuraya, Fowzan S; Gleeson, Joseph G; Varshney, Gaurav K

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

针对临床诊断为杜博维茨综合征患者的替代基因组诊断方法

Dyment, David A; O'Donnell-Luria, Anne; Agrawal, Pankaj B; Coban Akdemir, Zeynep; Aleck, Kyrieckos A; Antaki, Danny; Al Sharhan, Hind; Au, Ping-Yee B; Aydin, Hatip; Beggs, Alan H; Bilguvar, Kaya; Boerwinkle, Eric; Brand, Harrison; Brownstein, Catherine A; Buyske, Steve; Chodirker, Bernard; Choi, Jungmin; Chudley, Albert E; Clericuzio, Carol L; Cox, Gerald F; Curry, Cynthia; de Boer, Elke; de Vries, Bert B A; Dunn, Kathryn; Dutmer, Cullen M; England, Eleina M; Fahrner, Jill A; Geckinli, Bilgen B; Genetti, Casie A; Gezdirici, Alper; Gibson, William T; Gleeson, Joseph G; Greenberg, Cheryl R; Hall, April; Hamosh, Ada; Hartley, Taila; Jhangiani, Shalini N; Karaca, Ender; Kernohan, Kristin; Lauzon, Julie L; Lewis, M E Suzanne; Lowry, R Brian; López-Giráldez, Francesc; Matise, Tara C; McEvoy-Venneri, Jennifer; McInnes, Brenda; Mhanni, Aziz; Garcia Minaur, Sixto; Moilanen, Jukka; Nguyen, An; Nowaczyk, Malgorzata J M; Posey, Jennifer E; Õunap, Katrin; Pehlivan, Davut; Pajusalu, Sander; Penney, Lynette S; Poterba, Timothy; Prontera, Paolo; Doriqui, Maria Juliana Rodovalho; Sawyer, Sarah L; Sobreira, Nara; Stanley, Valentina; Torun, Deniz; Wargowski, David; Witmer, P Dane; Wong, Isaac; Xing, Jinchuan; Zaki, Maha S; Zhang, Yeting; Boycott, Kym M; Bamshad, Michael J; Nickerson, Deborah A; Blue, Elizabeth E; Innes, A Micheil