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

Designing inclusive newborn sequencing research: insights from parents in underrepresented communities

设计包容性的新生儿基因测序研究:来自弱势群体父母的见解

Del Rosario, Maya C; Walmsley, Sheyenne A; Harrison, Barbara W; Stephens, Crystal T; Zettler, Bethany; Rivera-Cruz, Greysha; Agrawal, Priyal; Brower, Amy; Chigbu, Stephanie; Christensen, Kurt D; Genetti, Casie A; Givens, Richetta; Gold, Nina B; Reeves, Inez V; Schichter, Isabella; Shariat, Habib; Simon, Sandra; Smith, Hadley Stevens; Uveges, Melissa; Green, Robert C; Holm, Ingrid A; Pereira, Stacey

Promises and pitfalls of preimplantation genetic testing for polygenic disorders: a narrative review

胚胎植入前遗传学检测在多基因疾病中的前景与不足:一篇叙述性综述

Roura-Monllor, Jaime A; Walker, Zachary; Reynolds, Joel M; Rivera-Cruz, Greysha; Hershlag, Avner; Altarescu, Gheona; Klipstein, Sigal; Pereira, Stacey; Lázaro-Muñoz, Gabriel; Carmi, Shai; Lencz, Todd; Lathi, Ruth Bunker

Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations

成人期迈尔综合征:临床变异性和新出现的基因型-表型相关性

Vanbelleghem, Eva; Van Damme, Tim; Beyens, Aude; Symoens, Sofie; Claes, Kathleen; De Backer, Julie; Meerschaut, Ilse; Vanommeslaeghe, Floris; Delanghe, Sigurd E; van den Ende, Jenneke; Beyltjens, Tessi; Scimone, Eleanor R; Lindsay, Mark E; Schimmenti, Lisa A; Hinze, Alicia M; Dunn, Emily; Gomez-Ospina, Natalia; Vandernoot, Isabelle; Delguste, Thomas; Coppens, Sandra; Cormier-Daire, Valérie; Tartaglia, Marco; Garavelli, Livia; Shieh, Joseph; Demir, Şenol; Arslan Ateş, Esra; Zenker, Martin; Rohanizadegan, Mersedeh; Rivera-Cruz, Greysha; Douzgou, Sofia; Lin, Angela E; Callewaert, Bert

The hypergonadotropic hypogonadism conundrum of classic galactosemia

经典型半乳糖血症的高促性腺激素性性腺功能减退症之谜

Derks, Britt; Rivera-Cruz, Greysha; Hagen-Lillevik, Synneva; Vos, E Naomi; Demirbas, Didem; Lai, Kent; Treacy, Eileen P; Levy, Harvey L; Wilkins-Haug, Louise E; Rubio-Gozalbo, M Estela; Berry, Gerard T

The Burden and Benefits of Knowledge: Ethical Considerations Surrounding Population-Based Newborn Genome Screening for Hearing

知识的负担与益处:围绕基于人群的新生儿听力基因组筛查的伦理考量

Mitchell, Calli O; Rivera-Cruz, Greysha; Chau, Matthew Hoi Kin; Dong, Zirui; Choy, Kwong Wai; Shen, Jun; Amr, Sami; Giersch, Anne B S; Morton, Cynthia C

How a woman's myomectomy saved her father's life: evidence of fumarate hydratase-deficient uterine leiomyoma and early detection of germline variants in fumarate hydratase

一位女性的子宫肌瘤切除术如何挽救了她父亲的生命:富马酸水合酶缺乏型子宫平滑肌瘤的证据以及富马酸水合酶种系变异的早期检测

Rivera-Cruz, Greysha; Boyraz, Baris; Petrozza, John C