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

Behavioral screening defines the molecular Parkinsonism-related subgroups in Drosophila

行为筛查确定了果蝇中与帕金森病相关的分子亚群

Kaempf, Natalie; Valadas, Jorge S; Robberechts, Pieter; Schoovaerts, Nils; Praschberger, Roman; Ortega, Antonio; Nachman, Eliana; Ghezzi, Lorenzo; Kilic, Ayse; Chabot, Dries; Pech, Uli; Kuenen, Sabine; Vilain, Sven; Baz, El-Sayed; Singh, Jeevanjot; Davis, Jesse; Liu, Sha; Verstreken, Patrik

Identification of de novo variants from parent-proband duos via long-read sequencing

利用长读长测序技术从父母-先证者配对样本中鉴定新生变异。

Boukas, Leandros; Délot, Emmanuèle C; Pitsava, Georgia; Lambert, Christine; Fanslow, Cairbre; Baybayan, Primo; Belhadj, Sami; Losic, Bojan; Harting, John; Bluske, Krista; LoTempio, Jonathan; Al-Kouatly, Huda B; Karam, Rachid; Rowell, William J; Xiao, Changrui; Vilain, Eric; Berger, Seth I

International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives

NKX2-1相关疾病国际注册研究:临床、遗传和影像学视角

Nou-Fontanet, Laia; Ravelli, Claudia; Burglen, Lydie; Balsells Mejia, Sol; Valls-Villalba, Angel; Schiffels, Elies Roman; Innocenti, Alice; Villafuerte, Beatriz; Salazar-Villacorta, Ainara; Quiroz, Vicente; Sariego Jamardo, Andrea; Bonato, Giulia; Díaz-Gomez, Asun; Afenjar, Alexandra; Vilain, Catheline; da Silva Möller, Patricia Dumke; Garcia-Navas Nuñez, Deyanira; Krygier, Magdalena; Molnar, Maria Judit; Milanowski, Łukasz; Õunap, Katrin; Pauni, Micaela; Vega, Patricia; Borie, Raphael; Villamil-Osorio, Milena; Yilmaz, Sanem; Zádori, Dénes; Zawadzka, Marta; Barakat, Tahsin Stefan; Neuens, Sebastian; de Natera-de Benito, Daniel; Casas-Alba, Dídac; Soliani, Luca; de Gusmao, Claudio M; Garone, Giacomo; Specchio, Nicola; Carecchio, Miryam; Moreno, José C; Magrinelli, Francesca; Bhatia, Kailash P; Ebrahimi-Fakhari, Darius; Castiglioni, Claudia; Kurian, Manju Ann; Carvalho, João Nuno; Pons, Roser; Roze, Emmanuel; Doummar, Diane; Ortigoza-Escobar, Juan Darío

Chemogenetic Manipulation of H(2)S with Spatiotemporal Precision

利用化学遗传学方法精确控制H₂S的时空分布。

Ghaffari Zaki, Asal; Issa, Hamzah; Miri, Seyed Mohammad; Armouch, Joudi; Aydeger, Asel; Yildirim, Sena; Mete, Refia Zeynep; Aljundi, Omar; Vatandaşlar, Emre; Akgul Caglar, Tuba; Çimen, Şeyma; Yiğit, Esra Nur; Aydın, Mehmet Şerif; Alp, Muhammed İkbal; Almammadov, Toghrul; Vilain, Sven; Eroglu, Emrah

Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder

RAPGEF2基因中罕见的杂合新生变异与神经发育障碍相关。

Bereshneh, Ali H; Wilson, Kirkland A; Pan, Xueyang; Hannan, Shabab B; Cooper, Megan A; Diaz, Jullianne; Leon, Eyby; Moses, Tiana M; Azamian, Mahshid S; Scott, Daryl A; Billie Au, Ping Yee; Appendino, Juan Pablo; Scheffer, Ingrid E; Kaspi, Antony; Bahlo, Melanie; Hildebrand, Michael S; Morgan, Angela T; Ekure, Ekanem; Shulman, Joshua M; Hildebrandt, Friedhelm; Posey, Jennifer E; Kruszka, Paul; Vilain, Eric; Yamamoto, Shinya; Kanca, Oguz; Berger, Seth; Bellen, Hugo J

Kauro, a graph-based chatbot for high-fidelity information transmission conversations

Kauro,一款基于图的聊天机器人,用于高保真信息传输对话

King, Charles Hadley; Barrick, Rebekah; Almalvez, Miguel; Blanco, Kirsten; De Dios, Ivan; Fusaro, Vincent A; Délot, Emmanuèle; Donohue, Chris; Berger, Seth; Xiao, Changrui; Vilain, Eric; LoTempio, Jonathan

GREGoR: accelerating genomics for rare diseases

GREGoR:加速罕见病基因组学研究

Dawood, Moez; Heavner, Ben; Wheeler, Marsha M; Ungar, Rachel A; LoTempio, Jonathan; Wiel, Laurens; Berger, Seth; Bernstein, Jonathan A; Chong, Jessica X; Délot, Emmanuèle C; Eichler, Evan E; Lupski, James R; Shojaie, Ali; Talkowski, Michael E; Wagner, Alex H; Wei, Chia-Lin; Wellington, Christopher; Wheeler, Matthew T; Carvalho, Claudia M B; Gibbs, Richard A; Gifford, Casey A; May, Susanne; Miller, Danny E; Rehm, Heidi L; Samocha, Kaitlin E; Sedlazeck, Fritz J; Vilain, Eric; O'Donnell-Luria, Anne; Posey, Jennifer E; Chadwick, Lisa H; Bamshad, Michael J; Montgomery, Stephen B

Genome-wide profiling of highly similar paralogous genes using HiFi sequencing

利用HiFi测序技术对高度相似的旁系同源基因进行全基因组分析

Chen, Xiao; Baker, Daniel; Dolzhenko, Egor; Devaney, Joseph M; Noya, Jessica; Berlyoung, April S; Brandon, Rhonda; Hruska, Kathleen S; Lochovsky, Lucas; Kruszka, Paul; Newman, Scott; Farrow, Emily; Thiffault, Isabelle; Pastinen, Tomi; Kasperaviciute, Dalia; Gilissen, Christian; Vissers, Lisenka; Hoischen, Alexander; Berger, Seth; Vilain, Eric; Délot, Emmanuèle; Eberle, Michael A

Sequence variants in HECTD1 result in a variable neurodevelopmental disorder

HECTD1基因序列变异会导致不同的神经发育障碍

Zerafati-Jahromi, Gazelle; Oxman, Elias; Hoang, Hieu D; Charng, Wu-Lin; Kotla, Tanvitha; Yuan, Weimin; Ishibashi, Keito; Sebaoui, Sonia; Luedtke, Kathryn; Winrow, Bryce; Ganetzky, Rebecca D; Ruiz, Anna; Manso-Basúz, Carmen; Spataro, Nino; Kannu, Peter; Athey, Taryn; Peroutka, Christina; Barnes, Caitlin; Sidlow, Richard; Anadiotis, George; Magnussen, Kari; Valenzuela, Irene; Moles-Fernandez, Alejandro; Berger, Seth; Grant, Christina L; Vilain, Eric; Arnadottir, Gudny A; Sulem, Patrick; Sulem, Telma S; Stefansson, Kari; Massey, Shavonne; Ginn, Natalie; Poduri, Annapurna; D'Gama, Alissa M; Valentine, Rozalia; Trowbridge, Sara K; Murali, Chaya N; Franciskovich, Rachel; Tran, Yen; Webb, Bryn D; Keppler-Noreuil, Kim M; Hall, April L; McGivern, Bobbi; Monaghan, Kristin G; Guillen Sacoto, Maria J; Baldridge, Dustin; Silverman, Gary A; Dahiya, Sonika; Turner, Tychele N; Schedl, Tim; Corbin, Joshua G; Pak, Stephen C; Zohn, Irene E; Gurnett, Christina A

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection

推进长读长纳米孔基因组组装和精确变异检测,以用于罕见病检测

Shloka Negi ,Sarah L Stenton ,Seth I Berger ,Paolo Canigiula ,Brandy McNulty ,Ivo Violich ,Joshua Gardner ,Todd Hillaker ,Sara M O'Rourke ,Melanie C O'Leary ,Elizabeth Carbonell ,Christina Austin-Tse ,Gabrielle Lemire ,Jillian Serrano ,Brian Mangilog ,Grace VanNoy ,Mikhail Kolmogorov ,Eric Vilain ,Anne O'Donnell-Luria ,Emmanuèle Délot ,Karen H Miga ,Jean Monlong ,Benedict Paten