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

Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomes

Multiscore 是一款由人工智能和真实世界临床数据驱动的基因排序工具,在近 10,000 个外显子组和基因组中显示出对孟德尔遗传病分子诊断的高灵敏度。

Ustach, Vincent D; Guillen Sacoto, Maria J; McGee, Stephen; Gainullin, Vladimir G; Arvai, Kevin; Begtrup, Amber; Facio, Flavia M; Greenberg, Matthew; Guðbjartsson, Hákon; McWalter, Kirsty; Millán, Francisca; Monaghan, Kristin; Retterer, Kyle; Richard, Gabriele; Topaz, Nadav; Torene, Rebecca; Johnson, Britt; Laurent, Timothy

Machine Learning-Driven Computer Vision System for Automated Fat and Energy Quantification in Human Milk Microcapillaries

基于机器学习的计算机视觉系统用于人乳微毛细血管中脂肪和能量的自动定量分析

Huamanga-Chumbes, Lujan E; Sacoto-Cabrera, Erwin J; Lloret, Jaime; Silva-Alvarado, Vinie Lee; Huicho-Mendigure, Alfz; Moreno-Cardenas, Edison

Proposal for Computationally Efficient Fog Computing System for Coffee Berry Borer Detection via Optimized YOLOv26

基于优化YOLOv26算法的高效雾计算咖啡果小蠹检测系统方案

Huaman-Pacco, Ingrid P; Sacoto-Cabrera, Erwin J; Silva-Alvarado, Vinie Lee; Ahmad, Ali; Sendra, Sandra; Lloret, Jaime; Moreno-Cardenas, Edison

WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models

WNT4 缺陷影响心脏、膈肌和腭的发育:来自人类遗传学、机器学习和鼠模型的启示

Hernández-García, Andrés; Kim, Bum Jun; Chitayat, David; Shannon, Patrick; Hedges, Stephanie; Al Bandari, Maria; Guillen Sacoto, Maria J; Bates, Emily Anne; Ozekin, Yunus H; Faundes, Victor; Luna, Pamela N; Shaw, Chad A; Rasmussen, Tara L; Hsu, Chih-Wei; Scott, Daryl A

Addition of Phentermine-Topiramate to a Digitally Enhanced Lifestyle Intervention: A Double-Blind Randomized Clinical Trial

在数字化增强型生活方式干预中添加芬特明-托吡酯:一项双盲随机临床试验

Campos, Alejandro; Ghusn, Wissam; Cifuentes, Lizeth; Sacoto, Daniel; Fansa, Sima; Anazco, Diego; Ricardo-Silgado, Maria L; Hashem, Anas; Schaefer, Megan; Harmsen, William S; Gunn, Heather J; Peterson, Craig; Larsen, Deborah; Varghese, Santosh T; Hurtado, Maria D; Acosta, Andres

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

SMARCA1 中的致病变异会导致 X 连锁神经发育障碍,该障碍受 NURF 复合物组成调节。

Mirzaa Ghayda M, Yan Keqin, Relator Raissa, Levesque Mathieu, Jayasinghe Pranisha, Timpano Sara, Yalcin Binnaz, Collins Stephan, Ziegler Alban, Pao Emily, Oyama Nora, Brischoux-Boucher Elise, Piard Juliette, Monaghan Kristin G, Guillen Sacoto Maria J, Dobyns William B, Park Kristen L, Fernández-Mayoralas Daniel Martin, Fernández-Jaén Alberto, Jayakar Parul, Palomares-Bralo María, Santos-Simarro Fernando, Brusco Alfredo, Antona Vincenzo, Giorgio Elisa, Kvarnung Malin, Isidor Bertrand, Conrad Solène, Cogné Benjamin, Deb Wallid, Stuurman Kyra E, Štěrbová Katalin, Smal Noor, Weckhuysen Sarah, Oegema Renske, Innes A Micheil, Koboldt Daniel C, Ben-Omran Tawfeg, Yeh Rebecca C, Kruer Michael C, Bakhtiari Somayeh, Papavasiliou Antigone, Moutton Sébastien, Nambot Sophie, Chanprasert Sirisak, Paolucci Sarah A, Miller Kait, Burton Barbara, Kim Katherine, O'Heir Emily, Bruwer Zandre, Donald Kirsten A, Kleefstra Tjitske, Goldstein Amy, Angle Brad, Bontempo Kelly, Miny Peter, Joset Pascal, Demurger Florence, Hobson Emma, Pang Lewis, Carpenter Lori, Li Dong, Bonneau Dominique, Sadikovic Bekim, Picketts David J

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

PTBP1 变异体表现出核质分布改变,是导致伴有骨骼发育不良的神经发育障碍的原因。

Masson, Aymeric; Paccaud, Julien; Orefice, Martina; Colin, Estelle; Mäkitie, Outi; Cormier-Daire, Valérie; Relator, Raissa; Ghosh, Sourav; Strub, Jean-Marc; Schaeffer-Reiss, Christine; Marcelis, Carlo; Koolen, David A; Pfundt, Rolph; de Boer, Elke; Vissers, Lisenka Elm; Gardeitchik, Thatjana; Aarts, Lonneke Am; Rinne, Tuula; Terhal, Paulien A; Verbeek, Nienke E; Zuurbier, Linda C; Plomp, Astrid S; Wessels, Marja W; de Man, Stella A; Bouman, Arjan; Bird, Lynne M; Saadeh-Haddad, Reem; Guillen Sacoto, Maria J; Person, Richard; Gooch, Catherine; Hurst, Anna Ce; Thompson, Michelle L; Hiatt, Susan M; Littlejohn, Rebecca O; Roeder, Elizabeth R; Mori, Mari; Hickey, Scott E; Hunter, Jesse M; Lee, Kristy; Osman, Khaled; Halloun, Rana; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Duplomb-Jego, Laurence; El It, Fatima; Duffourd, Yannis; Tran Mau-Them, Frédéric; Huber, Celine; Gordon, Christopher T; Taylan, Fulya; Mäkitie, Riikka E; Costantini, Alice; Valta, Helena; Robertson, Stephen; Poke, Gemma; Francoise, Michel; Ciolfi, Andrea; Tartaglia, Marco; Ekhilevitch, Nina; Zaid, Rinat; Levy, Michael A; Kerkhof, Jennifer; McConkey, Haley; Delanne, Julian; Chevarin, Martin; Vautrot, Valentin; Bourgeois, Valentin; Nguyen, Sylvie; Marle, Nathalie; Callier, Patrick; Safraou, Hana; Morgan, Angela; Amor, David J; Hildebrand, Michael S; Coman, David; Aubert Mucca, Marion; Thevenon, Julien; Laffargue, Fanny; Bilan, Frédéric; Pebrel-Richard, Céline; Yoon, Grace; Axford, Michelle M; Pérez-Jurado, Luis A; Sevilla-Porras, Marta; Black, Douglas L; Philippe, Christophe; Sadikovic, Bekim; Thauvin-Robinet, Christel; Olivier-Faivre, Laurence; Ori, Michela; Thomas, Quentin; Vitobello, Antonio

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

A proposed role for CDO1 in CNS development: Three children with rare missense variants and a neurological phenotype

CDO1在中枢神经系统发育中的潜在作用:三名携带罕见错义变异并表现出神经系统表型的儿童

Rowe, Leah; Mullegama, Sureni V; Lombardo, Rachel; Barnes, Caitlin; Towner, Shelley; Snyder, Matthew T; Heidlebaugh, Alexis; Riordan, Heather; Begtrup, Amber; Crunk, Amy; Cui, Hong; Dameron, Amy E; Folk, Leandra; Guillen Sacoto, Maria J; Juusola, Jane; Redlich, Olivia L; Reich, Adi; McGivern, Bobbi

Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomalies

鉴定出KCTD10基因中的新生变异可能是多种先天性异常的病因

Morrow, Michelle M; Torti, Erin; McGivern, Bobbi; Gates, Ryan; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Folk, Leandra; Holtrop, Shannon; Palculict, Timothy Blake; Redlich, Olivia L; Reich, Adi; Guillen Sacoto, Maria J; Shi, Lisong; Wentzensen, Ingrid M; McWalter, Kirsty