Vincent D. Ustach

genedx

H指数:9

被引数:371

个人简介

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教育背景

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工作经历

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荣誉奖项

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Multimodal Sequencing and Reanalysis Approaches to End the Diagnostic Odyssey of Individuals with Suspected Rare Monogenic Diseases

多模态测序和重分析策略以终结疑似单基因罕见病患者的诊断困境

Genes

IF2.8

2026-05-310

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，一种由人工智能和真实世界临床数据驱动的基因排序器，在近10,000个外显子和基因组中对孟德尔疾病的分子诊断显示出高敏感性。

Human Genetics

IF3.6

2026-02-160

OAAI

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

使用基因组测序扩展新生儿筛查早期可行条件

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

IF55

2025-01-213

PRE

Ziegler, Alban; Koval-Burt, Carrie; Kay, Denise M.; Suchy, Sharon F.; Begtrup, Amber; Langley, Katherine G.; Hernan, Rebecca; Amendola, Laura M.; Boyd, Brenna M.; Bradley, Jennifer; Brandt, Tracy; Cohen, Lilian L.; Coffey, Alison J.; Devaney, Joseph M.; Dygulska, Beata; Friedman, Bethany; Fuleihan, Ramsay L.; Gyimah, Awura; Hahn, Sihoun; Hofherr, Sean; Hruska, Kathleen S.; Hu, Zhanzhi; Jeanne, Mederic; Jin, Guanjun; Johnson, D. Aaron; Kavus, Haluk; Leibel, Rudolph L.; Lobritto, Steven J.; McGee, Stephen; Milner, Joshua D.; McWalter, Kirsty; Monaghan, Kristin G.; Orange, Jordan S.; Pimentel Soler, Nicole; Quevedo, Yeyson; Ratner, Samantha; Retterer, Kyle; Shah, Ankur; Shapiro, Natasha; Sicko, Robert J.; Silver, Eric S.; Strom, Samuel; Torene, Rebecca I.; Williams, Olatundun; Ustach, Vincent D.; Wynn, Julia; Taft, Ryan J.; Kruszka, Paul; Caggana, Michele; Chung, Wendy K.

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations

NATURE GENETICS

IF31.8

2024-09-231

OAAI

Chundru, V. Kartik; Zhang, Zhancheng; Walter, Klaudia; Lindsay, Sarah J.; Danecek, Petr; Eberhardt, Ruth Y.; Gardner, Eugene J.; Malawsky, Daniel S.; Wigdor, Emilie M.; Torene, Rebecca; Retterer, Kyle; Wright, Caroline F.; Olafsdottir, Hildur; Sacoto, Maria J. Guillen; Ayaz, Akif; Akbeyaz, Ismail Hakki; Tuerkdogan, Dilsad; Al Balushi, Aaisha Ibrahim; Bertoli-Avella, Aida; Bauer, Peter; Szenker-Ravi, Emmanuelle; Reversade, Bruno; Mcwalter, Kirsty; Sheridan, Eamonn; Firth, Helen V.; Hurles, Matthew E.; Samocha, Kaitlin E.; Ustach, Vincent D.; Martin, Hilary C.

Rapid and accurate estimation of protein-ligand relative binding affinities using site-identification by ligand competitive saturation

CHEMICAL SCIENCE

IF7.4

2021-01-0125

OAAI

Optimization and Evaluation of Site-Identification by Ligand Competitive. Saturation (SILCS) as a Tool for Target-Based Ligand Optimization

JOURNAL OF CHEMICAL INFORMATION AND MODELING

IF5.3

2019-04-2956

OAAI

Optimization of the Site-Identification by Ligand Competitive Saturation (SILCS) as an Accurate and Reliable Technique in Lead Optimization

BIOPHYSICAL JOURNAL

IF3.1

2019-02-010

OAAI

Tunable Permeability of Cross-Linked Microcapsules from pH- Responsive Amphiphilic Diblock Copolymers: A Dissipative Particle Dynamics Study

LANGMUIR

IF3.9

2017-07-1033

OAAI

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

利用基因组测序进行扩展新生儿筛查，以早期识别可干预状况

Obstetrical & Gynecological Survey

IF3.6

PRE

Ziegler, Alban; Koval-Burt, Carrie; Kay, Denise M.; Suchy, Sharon F.; Begtrup, Amber; Langley, Katherine G.; Hernan, Rebecca; Amendola, Laura M.; Boyd, Brenna M.; Bradley, Jennifer; Brandt, Tracy; Cohen, Lilian L.; Coffey, Alison J.; Devaney, Joseph M.; Dygulska, Beata; Friedman, Bethany; Fuleihan, Ramsay L.; Gyimah, Awura; Hahn, Sihoun; Hofherr, Sean; Hruska, Kathleen S.; Hu, Zhanzhi; Jeanne, Médéric; Jin, Guanjun; Johnson, D. Aaron; Kavus, Haluk; Leibel, Rudolph L.; Lobritto, Steven J.; McGee, Stephen; Milner, Joshua D.; McWalter, Kirsty; Monaghan, Kristin G.; Orange, Jordan S.; Soler, Nicole Pimentel; Quevedo, Yeyson; Ratner, Samantha; Retterer, Kyle; Shah, Ankur; Shapiro, Natasha; Sicko, Robert J.; Silver, Eric S.; Strom, Samuel; Torene, Rebecca I.; Williams, Olatundun; Ustach, Vincent D.; Taft, Ryan J.; Kruszka, Paul; Caggana, Michele; Chung, Wendy K.

Vincent D. Ustach

个人简介

教育背景

工作经历

荣誉奖项

研究方向