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

Genetic Diagnosis and Discovery Enabled by Large Language Models

大型语言模型助力基因诊断与发现

Tu, Tao; Saab, Khaled; Liu, Weida; Fang, Zhouqing; Cheng, Zhuanfen; Spasic, Svetolik; Djurisic, Maja; Mohri, Hiroaki; Ren, Wenlong; Palepu, Anil; Gottweis, Juraj; Karthikesalingam, Alan; Kulkarni, Kavita; Pawlosky, Annalisa; Bonner, Devon; Kravets, Elijah; Marwaha, Shruti; Mendez, Hector R; Wheeler, Matthew T; Bernstein, Jonathan A; Tsai, Cheng-Yu; Wu, Chen-Chi; Stankovic, Konstantina M; Natarajan, Vivek; Peltz, Gary

Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome

费兰-麦克德米德综合征中主动脉根部扩张与基因型的关联

Gluckman, Jake; Levy, Tess; Friedman, Kate; Garces, Francesca; Filip-Dhima, Rajna; Quinlan, Aisling; Iannotti, Isabelle; Pekar, Margaret; Hernandez, Alexandra Lopez; Nava, Madison T; Kravets, Elijah; Siegel, Abigail; Bernstein, Jonathan A; Berry-Kravis, Elizabeth; Powell, Craig M; Soorya, Latha Valluripalli; Thurm, Audrey; Srivastava, Siddharth; Buxbaum, Joseph D; Sahin, Mustafa; Kolevzon, Alexander; Gelb, Bruce D

RAPSN-Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position

由同一位置的双等位基因单核苷酸变异引起的RAPSN相关先天性肌无力综合征

Keehan, Laura; Carter, Jennefer N; Kravets, Elijah; Wheeler, Matthew T; Bernstein, Jonathan A; Maselli, Ricardo A; Sampson, Jacinda B; Bachir, Suha

Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.

FAM177A1 是一种定位于高尔基体的蛋白质,其功能丧失会导致一种新的神经发育障碍

Kohler Jennefer N, Legro Nicole R, Baldridge Dustin, Shin Jimann, Bowman Angela, Ugur Berrak, Jackstadt Madelyn M, Shriver Leah P, Patti Gary J, Zhang Bo, Feng Wenjia, McAdow Anthony R, Goddard Pagé, Ungar Rachel A, Jensen Tanner, Smith Kevin S, Fresard Laure, Alvarez Raquel, Bonner Devon, Reuter Chloe M, McCormack Colleen, Kravets Elijah, Marwaha Shruti, Holt James M, Worthey Elizabeth A, Ashley Euan A, Montgomery Stephen B, Fisher Paul G, Postlethwait John, De Camilli Pietro, Solnica-Krezel Lila, Bernstein Jonathan A, Wheeler Matthew T

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

Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype

CTNNB1基因错义变异可能与玻璃体视网膜病变相关——七例新的CTNNB1相关神经发育障碍病例,包括一种先前未报道的视网膜表型

Rossetti, Linda Z; Bekheirnia, Mir Reza; Lewis, Andrea M; Mefford, Heather C; Golden-Grant, Katie; Tarczy-Hornoch, Kristina; Briere, Lauren C; Sweetser, David A; Walker, Melissa A; Kravets, Elijah; Stevenson, David A; Bruenner, Georgette; Sebastian, Jessica; Knapo, Julia; Rosenfeld, Jill A; Marcogliese, Paul C; Wangler, Michael F

Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review

蜡样斑纹症和蜡样斑纹症的皮肤外表现:病例系列及文献综述

Kumar, Akash; Zastrow, Diane B; Kravets, Elijah J; Beleford, Daniah; Ruzhnikov, Maura R Z; Grove, Megan E; Dries, Annika M; Kohler, Jennefer N; Waggott, Daryl M; Yang, Yaping; Huang, Yong; Mackenzie, Katherine M; Eng, Christine M; Fisher, Paul G; Ashley, Euan A; Teng, Joyce M; Stevenson, David A; Shieh, Joseph T; Wheeler, Matthew T; Bernstein, Jonathan A