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

Evaluating GPT-4o in high-stakes medical assessments: performance and error analysis on a Chilean anesthesiology exam

在高风险医学评估中评估 GPT-4o:智利麻醉学考试中的表现和误差分析

Altermatt, Fernando R; Neyem, Andres; Sumonte, Nicolás I; Villagrán, Ignacio; Mendoza, Marcelo; Lacassie, Hector J; Delfino, Alejandro E

Performance of single-agent and multi-agent language models in Spanish language medical competency exams

单智能体和多智能体语言模型在西班牙语医学能力考试中的表现

Altermatt, Fernando R; Neyem, Andres; Sumonte, Nicolas; Mendoza, Marcelo; Villagran, Ignacio; Lacassie, Hector J

Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3)

巨头畸形和指趾异常扩大了伴有智力发育障碍的高磷酸酶症 3 型 (HPMRS3) 的 PGAP2 变异体的表型谱

Susgun, Seda; Ben-Mahmoud, Afif; Rüschendorf, Franz; Ku, Bonsu; Hussain, Syeda Iqra; Schulz, Solveig; Puk, Oliver; Biskup, Saskia; Labonne, Jonathan D J; Don, Dilan Wellalage; Gupta, Vijay; Choi, Tae-Ik; Khan, Saadullah; Wasif, Naveed; Lacassie, Yves; Layman, Lawrence C; Ugur Iseri, Sibel Aylin; Kim, Cheol-Hee; Kim, Hyung-Goo

A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome

在不平衡易位 t(7;12)(q21.13;q23.1) 中发现的隐匿性微缺失 del(12)(p11.21p11.23) 提示存在与智力障碍和卡尔曼综合征相关的新候选基因位点。

Ben-Mahmoud, Afif; Kishikawa, Shotaro; Gupta, Vijay; Leach, Natalia T; Shen, Yiping; Moldovan, Oana; Goel, Himanshu; Hopper, Bruce; Ranguin, Kara; Gruchy, Nicolas; Maas, Saskia M; Lacassie, Yves; Kim, Soo-Hyun; Kim, Woo-Yang; Quade, Bradley J; Morton, Cynthia C; Kim, Cheol-Hee; Layman, Lawrence C; Kim, Hyung-Goo

A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome

微缺失del(12)(p11.21p11.23)伴隐匿性不平衡易位t(7;12)(q21.13;q23.1)提示存在与智力障碍和卡尔曼综合征相关的新候选基因位点。

Ben-Mahmoud, Afif; Kishikawa, Shotaro; Gupta, Vijay; Leach, Natalia T; Shen, Yiping; Moldovan, Oana; Goel, Himanshu; Hopper, Bruce; Ranguin, Kara; Gruchy, Nicolas; Maas, Saskia M; Lacassie, Yves; Kim, Soo-Hyun; Kim, Woo-Yang; Quade, Bradley J; Morton, Cynthia C; Kim, Cheol-Hee; Layman, Lawrence C; Kim, Hyung-Goo

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

66例由CHST14致病变异引起的肌肉挛缩型埃勒斯-当洛斯综合征(mcEDS-CHST14)患者的临床和分子特征

Minatogawa, Mari; Unzaki, Ai; Morisaki, Hiroko; Syx, Delfien; Sonoda, Tohru; Janecke, Andreas R; Slavotinek, Anne; Voermans, Nicol C; Lacassie, Yves; Mendoza-Londono, Roberto; Wierenga, Klaas J; Jayakar, Parul; Gahl, William A; Tifft, Cynthia J; Figuera, Luis E; Hilhorst-Hofstee, Yvonne; Maugeri, Alessandra; Ishikawa, Ken; Kobayashi, Tomoko; Aoki, Yoko; Ohura, Toshihiro; Kawame, Hiroshi; Kono, Michihiro; Mochida, Kosuke; Tokorodani, Chiho; Kikkawa, Kiyoshi; Morisaki, Takayuki; Kobayashi, Tetsuyuki; Nakane, Takaya; Kubo, Akiharu; Ranells, Judith D; Migita, Ohsuke; Sobey, Glenda; Kaur, Anupriya; Ishikawa, Masumi; Yamaguchi, Tomomi; Matsumoto, Naomichi; Malfait, Fransiska; Miyake, Noriko; Kosho, Tomoki

Neural lesions in obstetrics: a diagnostic tree

产科神经损伤:诊断流程图

Lacassie, Hector J; Mellado, Patricio; Cruz, Juan Pablo

[Difficult fiberoptic tracheal intubation in 1 month-old infant with Treacher Collins Syndrome]

[1个月大患有特雷彻·柯林斯综合征的婴儿进行纤维支气管镜气管插管困难]

Fuentes, Ricardo; De la Cuadra, Juan Carlos; Lacassie, Hector; González, Alejandro

Schaaf-Yang syndrome overview: Report of 78 individuals

Schaaf-Yang综合征概述:78例患者报告

McCarthy, John; Lupo, Philip J; Kovar, Erin; Rech, Megan; Bostwick, Bret; Scott, Daryl; Kraft, Katerina; Roscioli, Tony; Charrow, Joel; Schrier Vergano, Samantha A; Lose, Edward; Smiegel, Robert; Lacassie, Yves; Schaaf, Christian P

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

与人类先天性异常相关的平衡细胞遗传学异常的基因组图谱

Redin, Claire; Brand, Harrison; Collins, Ryan L; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C; Hanscom, Carrie; Pillalamarri, Vamsee; Seabra, Catarina M; Abbott, Mary-Alice; Abdul-Rahman, Omar A; Aberg, Erika; Adley, Rhett; Alcaraz-Estrada, Sofia L; Alkuraya, Fowzan S; An, Yu; Anderson, Mary-Anne; Antolik, Caroline; Anyane-Yeboa, Kwame; Atkin, Joan F; Bartell, Tina; Bernstein, Jonathan A; Beyer, Elizabeth; Blumenthal, Ian; Bongers, Ernie M H F; Brilstra, Eva H; Brown, Chester W; Brüggenwirth, Hennie T; Callewaert, Bert; Chiang, Colby; Corning, Ken; Cox, Helen; Cuppen, Edwin; Currall, Benjamin B; Cushing, Tom; David, Dezso; Deardorff, Matthew A; Dheedene, Annelies; D'Hooghe, Marc; de Vries, Bert B A; Earl, Dawn L; Ferguson, Heather L; Fisher, Heather; FitzPatrick, David R; Gerrol, Pamela; Giachino, Daniela; Glessner, Joseph T; Gliem, Troy; Grady, Margo; Graham, Brett H; Griffis, Cristin; Gripp, Karen W; Gropman, Andrea L; Hanson-Kahn, Andrea; Harris, David J; Hayden, Mark A; Hill, Rosamund; Hochstenbach, Ron; Hoffman, Jodi D; Hopkin, Robert J; Hubshman, Monika W; Innes, A Micheil; Irons, Mira; Irving, Melita; Jacobsen, Jessie C; Janssens, Sandra; Jewett, Tamison; Johnson, John P; Jongmans, Marjolijn C; Kahler, Stephen G; Koolen, David A; Korzelius, Jerome; Kroisel, Peter M; Lacassie, Yves; Lawless, William; Lemyre, Emmanuelle; Leppig, Kathleen; Levin, Alex V; Li, Haibo; Li, Hong; Liao, Eric C; Lim, Cynthia; Lose, Edward J; Lucente, Diane; Macera, Michael J; Manavalan, Poornima; Mandrile, Giorgia; Marcelis, Carlo L; Margolin, Lauren; Mason, Tamara; Masser-Frye, Diane; McClellan, Michael W; Mendoza, Cinthya J Zepeda; Menten, Björn; Middelkamp, Sjors; Mikami, Liya R; Moe, Emily; Mohammed, Shehla; Mononen, Tarja; Mortenson, Megan E; Moya, Graciela; Nieuwint, Aggie W; Ordulu, Zehra; Parkash, Sandhya; Pauker, Susan P; Pereira, Shahrin; Perrin, Danielle; Phelan, Katy; Aguilar, Raul E Piña; Poddighe, Pino J; Pregno, Giulia; Raskin, Salmo; Reis, Linda; Rhead, William; Rita, Debra; Renkens, Ivo; Roelens, Filip; Ruliera, Jayla; Rump, Patrick; Schilit, Samantha L P; Shaheen, Ranad; Sparkes, Rebecca; Spiegel, Erica; Stevens, Blair; Stone, Matthew R; Tagoe, Julia; Thakuria, Joseph V; van Bon, Bregje W; van de Kamp, Jiddeke; van Der Burgt, Ineke; van Essen, Ton; van Ravenswaaij-Arts, Conny M; van Roosmalen, Markus J; Vergult, Sarah; Volker-Touw, Catharina M L; Warburton, Dorothy P; Waterman, Matthew J; Wiley, Susan; Wilson, Anna; Yerena-de Vega, Maria de la Concepcion A; Zori, Roberto T; Levy, Brynn; Brunner, Han G; de Leeuw, Nicole; Kloosterman, Wigard P; Thorland, Erik C; Morton, Cynthia C; Gusella, James F; Talkowski, Michael E