Francis S. Collins (Francis Collins)

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个人简介

Dr. Collins is a physician-geneticist noted for his landmark discoveries of disease genes and his leadership of the international Human Genome Project, which culminated in April 2003 with the completion of a finished sequence of the human DNA instruction book.

研究兴趣

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Music and medicine: quickening the tempo of progress

Wen G Chen,Emmeline Edwards,Sunil Iyengar, Robert Finkelstein, Deborah F Rutter, Renée Fleming,Francis S Collins

The Lancet (2024)

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Generation of Human Isogenic Induced Pluripotent Stem Cell Lines with CRISPR Prime Editing

Lori L Bonnycastle,Amy J Swift, Erin C Mansell, Angela Lee, Elizabeth Winnicki, Elizabeth S Li,Catherine C Robertson,Victoria A Parsons, Trung Huynh, Chad Krilow,Karen L Mohlke,Michael R Erdos,

The CRISPR journalno. 1 (2024): 53-67

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Differential gene expression by sex in skeletal muscle cell types

Dan Ciotlos, Sarah Hanks, Juhyun Kim,Arushi Varshney,Nandini Manickam,Michael Erdos,Anne Jackson,Heather Stringham,Michael Boehnke,Heikki Koistinen,Francis Collins,Stephen Parker,

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 651-651

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Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake

Alice Williamson,Dougall M. Norris,Xianyong Yin,K. Alaine Broadaway,Anne H. Moxley,Swarooparani Vadlamudi,Emma P. Wilson,Anne U. Jackson,Vasudha Ahuja,Mette K. Andersen,Zorayr Arzumanyan,Lori L. Bonnycastle,

Nature Genetics（2023）

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Human pancreatic islet microRNAs implicated in diabetes and related traits by large-scale genetic analysis

Henry J Taylor,Yu-Han Hung,Narisu Narisu,Michael R Erdos,Matthew Kanke,Tingfen Yan,Caleb M Grenko,Amy J Swift,Lori L Bonnycastle,Praveen Sethupathy,Francis S Collins,D Leland Taylor

Proc Natl Acad Sci U S A（2023）

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Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

Alan P. Tenney,Silvio Alessandro Di Gioia,Bryn D. Webb,Wai-Man Chan,Elke de Boer, Sarah J. Garnai,Brenda J. Barry, Tammy Ray,Michael Kosicki,Caroline D. Robson,Zhongyang Zhang, Thomas E. Collins,

Nature Geneticsno. 7 (2023): 1149-1163

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Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization

Sara M. Willems, Natasha Hui Jin Ng, Juan Carlos Delgado Fernández,Rebecca S. Fine,Eleanor Wheeler,Jennifer Wessel, Hidetoshi Kitajima,Gaëlle Marenne,Xueling Sim, Hanieh Yaghootkar,Shuai Wang,Sai Chen,

Wellcome open research (2023): 483-483

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The NIH-led research response to COVID-19

Francis Collins,Stacey Adam, Christine Colvis, Elizabeth Desrosiers, Ruxandra Draghia-Akli,Anthony Fauci,Maria Freire,Gary Gibbons,Matthew Hall, Eric Hughes, Kathrin Jansen,Michael Kurilla,

Science（2023）

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Bone dysplasia in Hutchinson-Gilford progeria syndrome is associated with dysregulated differentiation and function of bone cell populations

Wayne A. Cabral, Chris Stephan,Masahiko Terajima,Abhirami A. Thaivalappil, Owen Blanchard,Urraca L. Tavarez,Narisu Narisu,Tingfen Yan, Stephen M. Wincovitch,Yuki Taga,Mitsuo Yamauchi,Kenneth M. Kozloff,

Aging cellno. 9 (2023)

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NIH Music-Based Intervention Toolkit: Music-Based Interventions for Brain Disorders of Aging

Emmeline Edwards, Coryse St Hillaire-Clarke, David W Frankowski, Robert Finkelstein,Thomas Cheever, Wen G Chen, Lisa Onken, Amy Poremba, Robert Riddle,Dana Schloesser, Caitlin E Burgdorf, Nena Wells,

Neurologyno. 18 (2023): 868-878

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