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

A Qualitative Study of Unplanned Hospital Readmissions: Patient Perspectives on Their Hospital to Home Transition

非计划性医院再入院的定性研究:患者对从医院到家庭过渡的看法

Yeatts, Dale; Tiwari, Chetan; Coleman, Samuel; Yeatts, Michelle; Sobering, Katherine

Erratum: Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

更正:PHF8基因变异会导致一系列X连锁神经发育障碍和面部畸形。

Sobering, Andrew K; Bryant, Laura M; Li, Dong; McGaughran, Julie; Maystadt, Isabelle; Moortgat, Stephanie; Graham, John M Jr; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Vogt, Julie; Morton, Jenny; Brasch-Andersen, Charlotte; Steenhof, Maria; Hansen, Lars Kjærsgaard; Adler, Élodie; Lyonnet, Stanislas; Pingault, Veronique; Sandrine, Marlin; Ziegler, Alban; Donald, Tyhiesia; Nelson, Beverly; Holt, Brandon; Petryna, Oleksandra; Firth, Helen; McWalter, Kirsty; Zyskind, Jacob; Telegrafi, Aida; Juusola, Jane; Person, Richard; Bamshad, Michael J; Earl, Dawn; Chun-Hui Tsai, Anne; Yearwood, Katherine R; Marco, Elysa; Nowak, Catherine; Douglas, Jessica; Hakonarson, Hakon; Bhoj, Elizabeth J

A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro-Caribbean individual

一种新型的SYNJ1纯合变异导致一名非裔加勒比个体出现发育性和癫痫性脑病。

Maj, Mary; Taylor, Christie L; Landau, Kevin; Toriello, Helga V; Li, Dong; Bhoj, Elizabeth J; Hakonarson, Hakon; Nelson, Beverly; Gluschitz, Sarah; Walker, Ruth H; Sobering, Andrew K

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

PHF8基因变异会导致一系列X连锁神经发育障碍和面部畸形。

Sobering, Andrew K; Bryant, Laura M; Li, Dong; McGaughran, Julie; Maystadt, Isabelle; Moortgat, Stephanie; Graham, John M Jr; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Vogt, Julie; Morton, Jenny; Brasch-Andersen, Charlotte; Steenhof, Maria; Hansen, Lars Kjærsgaard; Adler, Élodie; Lyonnet, Stanislas; Pingault, Veronique; Sandrine, Marlin; Ziegler, Alban; Donald, Tyhiesia; Nelson, Beverly; Holt, Brandon; Petryna, Oleksandra; Firth, Helen; McWalter, Kirsty; Zyskind, Jacob; Telegrafi, Aida; Juusola, Jane; Person, Richard; Bamshad, Michael J; Earl, Dawn; Tsai, Anne Chun-Hui; Yearwood, Katherine R; Marco, Elysa; Nowak, Catherine; Douglas, Jessica; Hakonarson, Hakon; Bhoj, Elizabeth J

A dyadic approach to the delineation of diagnostic entities in clinical genomics

临床基因组学中诊断实体划分的二元方法

Biesecker, Leslie G; Adam, Margaret P; Alkuraya, Fowzan S; Amemiya, Anne R; Bamshad, Michael J; Beck, Anita E; Bennett, James T; Bird, Lynne M; Carey, John C; Chung, Brian; Clark, Robin D; Cox, Timothy C; Curry, Cynthia; Dinulos, Mary Beth Palko; Dobyns, William B; Giampietro, Philip F; Girisha, Katta M; Glass, Ian A; Graham, John M Jr; Gripp, Karen W; Haldeman-Englert, Chad R; Hall, Bryan D; Innes, A Micheil; Kalish, Jennifer M; Keppler-Noreuil, Kim M; Kosaki, Kenjiro; Kozel, Beth A; Mirzaa, Ghayda M; Mulvihill, John J; Nowaczyk, Malgorzata J M; Pagon, Roberta A; Retterer, Kyle; Rope, Alan F; Sanchez-Lara, Pedro A; Seaver, Laurie H; Shieh, Joseph T; Slavotinek, Anne M; Sobering, Andrew K; Stevens, Cathy A; Stevenson, David A; Tan, Tiong Yang; Tan, Wen-Hann; Tsai, Anne C; Weaver, David D; Williams, Marc S; Zackai, Elaine; Zarate, Yuri A

Response to Hamosh et al

对 Hamosh 等人的回应

Biesecker, Leslie G; Adam, Margaret P; Alkuraya, Fowzan S; Amemiya, Anne R; Bamshad, Michael J; Beck, Anita E; Bennett, James T; Bird, Lynne M; Carey, John C; Chung, Brian; Clark, Robin D; Cox, Timothy C; Curry, Cynthia; Dinulos, Mary Beth Palko; Dobyns, William B; Giampietro, Philip F; Girisha, Katta M; Glass, Ian A; Graham, John M Jr; Gripp, Karen W; Haldeman-Englert, Chad R; Hall, Bryan D; Innes, A Micheil; Kalish, Jennifer M; Keppler-Noreuil, Kim M; Kosaki, Kenjiro; Kozel, Beth A; Mirzaa, Ghayda M; Mulvihill, John J; Nowaczyk, Malgorzata J M; Pagon, Roberta A; Retterer, Kyle; Rope, Alan F; Sanchez-Lara, Pedro A; Seaver, Laurie H; Shieh, Joseph T; Slavotinek, Anne M; Sobering, Andrew K; Stevens, Cathy A; Stevenson, David A; Tan, Tiong Yang; Tan, Wen-Hann; Tsai, Anne C; Weaver, David D; Williams, Marc S; Zackai, Elaine; Zarate, Yuri A

ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

ALG13 X连锁智力障碍:新变异、糖基化分析和扩展表型

Alsharhan, Hind; He, Miao; Edmondson, Andrew C; Daniel, Earnest J P; Chen, Jie; Donald, Tyhiesia; Bakhtiari, Somayeh; Amor, David J; Jones, Elizabeth A; Vassallo, Grace; Vincent, Marie; Cogné, Benjamin; Deb, Wallid; Werners, Arend H; Jin, Sheng C; Bilguvar, Kaya; Christodoulou, John; Webster, Richard I; Yearwood, Katherine R; Ng, Bobby G; Freeze, Hudson H; Kruer, Michael C; Li, Dong; Raymond, Kimiyo M; Bhoj, Elizabeth J; Sobering, Andrew K

Towards the optimal use of video recordings to support the flipped classroom in medical school basic sciences education

探讨如何优化利用视频录像来支持医学院基础科学教育中的翻转课堂教学

Bordes, Stephen J; Walker, Donna; Modica, Louis Jonathan; Buckland, Joanne; Sobering, Andrew K

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome

在包含 104 名 Wiedemann-Steiner 综合征患者的多元化队列中,扩展了基因型和表型谱。

Sheppard, Sarah E; Campbell, Ian M; Harr, Margaret H; Gold, Nina; Li, Dong; Bjornsson, Hans T; Cohen, Julie S; Fahrner, Jill A; Fatemi, Ali; Harris, Jacqueline R; Nowak, Catherine; Stevens, Cathy A; Grand, Katheryn; Au, Margaret; Graham, John M Jr; Sanchez-Lara, Pedro A; Campo, Miguel Del; Jones, Marilyn C; Abdul-Rahman, Omar; Alkuraya, Fowzan S; Bassetti, Jennifer A; Bergstrom, Katherine; Bhoj, Elizabeth; Dugan, Sarah; Kaplan, Julie D; Derar, Nada; Gripp, Karen W; Hauser, Natalie; Innes, A Micheil; Keena, Beth; Kodra, Neslida; Miller, Rebecca; Nelson, Beverly; Nowaczyk, Malgorzata J; Rahbeeni, Zuhair; Ben-Shachar, Shay; Shieh, Joseph T; Slavotinek, Anne; Sobering, Andrew K; Abbott, Mary-Alice; Allain, Dawn C; Amlie-Wolf, Louise; Au, Ping Yee Billie; Bedoukian, Emma; Beek, Geoffrey; Barry, James; Berg, Janet; Bernstein, Jonathan A; Cytrynbaum, Cheryl; Chung, Brian Hon-Yin; Donoghue, Sarah; Dorrani, Naghmeh; Eaton, Alison; Flores-Daboub, Josue A; Dubbs, Holly; Felix, Carolyn A; Fong, Chin-To; Fung, Jasmine Lee Fong; Gangaram, Balram; Goldstein, Amy; Greenberg, Rotem; Ha, Thoa K; Hersh, Joseph; Izumi, Kosuke; Kallish, Staci; Kravets, Elijah; Kwok, Pui-Yan; Jobling, Rebekah K; Knight Johnson, Amy E; Kushner, Jessica; Lee, Bo Hoon; Levin, Brooke; Lindstrom, Kristin; Manickam, Kandamurugu; Mardach, Rebecca; McCormick, Elizabeth; McLeod, D Ross; Mentch, Frank D; Minks, Kelly; Muraresku, Colleen; Nelson, Stanley F; Porazzi, Patrizia; Pichurin, Pavel N; Powell-Hamilton, Nina N; Powis, Zoe; Ritter, Alyssa; Rogers, Caleb; Rohena, Luis; Ronspies, Carey; Schroeder, Audrey; Stark, Zornitza; Starr, Lois; Stoler, Joan; Suwannarat, Pim; Velinov, Milen; Weksberg, Rosanna; Wilnai, Yael; Zadeh, Neda; Zand, Dina J; Falk, Marni J; Hakonarson, Hakon; Zackai, Elaine H; Quintero-Rivera, Fabiola

Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community

在西印度群岛提供免费医学遗传学服务的经验:对患者、医生和社区的益处

Sobering, Andrew K; Li, Dong; Beighley, Jennifer S; Carey, John C; Donald, Tyhiesia; Elsea, Sarah H; Figueroa, Karla P; Gerdts, Jennifer; Hamlet, Andre; Mirzaa, Ghayda M; Nelson, Beverly; Pulst, Stefan M; Smith, Janice L; Tassone, Flora; Toriello, Helga V; Walker, Ruth H; Yearwood, Katherine R; Bhoj, Elizabeth J