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NISC Comparative Sequencing Program
179  results:
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1

Primary oxidative phosphorylation defects lead to perturbat..:

Gordon-Lipkin, Eliza M. ; Banerjee, Payal ; Franco, Jose Luis Marin...
Frontiers in Immunology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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2

A novel de novo TP63 mutation in whole‐exome sequencing of ..:

Simpson, Claire L. ; Kimble, Danielle C. ; Chandrasekharappa, Settara C....
Molecular Genetics & Genomic Medicine.  11 (2023)  8 - p. , 2023
Link: https://doi.org/10.1002/..
 
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3

Highly complete long-read genomes reveal pangenomic variati..:

Weller, Cory A. ; Andreev, Ilya ; Chambers, Michael J....
Genome Research.  33 (2023)  5 - p. 729-740 , 2023
Link: https://doi.org/10.1101/..
 
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4

Clonal hematopoiesis in patients with ANKRD26 or ETV6 germl..:

Drazer, Michael W. ; Homan, Claire C. ; Yu, Kai...
Blood Advances.  6 (2022)  15 - p. 4357-4359 , 2022
Link: https://doi.org/10.1182/..
 
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5

Exome sequencing identifies genetic variants in anophthalmi..:

Li, Jingjing ; Yang, Wei ; Wang, Yuejun Jessie...
American Journal of Medical Genetics Part A.  188 (2022)  8 - p. 2376-2388 , 2022
Link: https://doi.org/10.1002/..
 
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6

A mouse model of occult intestinal colonization demonstrati..:

Sim, Choon K. ; Kashaf, Sara Saheb ; Stacy, Apollo...
Microbiome.  10 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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7

Transcriptome of HPβCD-treated Niemann-Pick disease type C1..:

Rodriguez-Gil, Jorge L ; Baxter, Laura L ; Watkins-Chow, Dawn E...
Human Molecular Genetics.  30 (2021)  24 - p. 2456-2468 , 2021
Link: https://doi.org/10.1093/..
 
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8

Low-level variant calling for non-matched samples using a p..:

NISC Comparative Sequencing Program ; Dudley, Jeffrey N. ; Hong, Celine S....
BMC Bioinformatics.  22 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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9

Sequence‐Based Screening of Patients With Idiopathic Polyar..:

Schnappauf, Oskar ; Sampaio Moura, Natalia ; Aksentijevich, Ivona...
Arthritis & Rheumatology.  73 (2021)  3 - p. 512-519 , 2021
Link: https://doi.org/10.1002/..
 
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10

Disseminated Mycobacterium marinum in Human Immunodeficienc..:

Manion, Maura ; Dulanto Chiang, Augusto ; Pei, Luxin...
The Journal of Infectious Diseases.  , 2020
Link: https://doi.org/10.1093/..
 
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11

Exome sequencing of family trios from the National Birth De..:

Jenkins, Mary M. ; Almli, Lynn M. ; Pangilinan, Faith...
Birth Defects Research.  111 (2019)  20 - p. 1618-1632 , 2019
Link: https://doi.org/10.1002/..
 
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12

MEK inhibition remodels the active chromatin landscape and ..:

NISC Comparative Sequencing Program ; Fufa, Temesgen D. ; Baxter, Laura L....
Epigenetics & Chromatin.  12 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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13

A direct link between MITF, innate immunity, and hair grayi..:

Harris, Melissa L. ; Fufa, Temesgen D. ; Palmer, Joseph W....
PLOS Biology.  16 (2018)  5 - p. e2003648 , 2018
Link: https://doi.org/10.1371/..
 
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14

Characteristics of Liver Disease in 100 Individuals With Jo..:

Strongin, Anna ; Heller, Theo ; Doherty, Dan...
Journal of Pediatric Gastroenterology and Nutrition.  66 (2018)  3 - p. 428-435 , 2018
Link: https://doi.org/10.1097/..
 
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15

Cell-type–specific eQTL of primary melanocytes facilitates ..:

Zhang, Tongwu ; Choi, Jiyeon ; Kovacs, Michael A....
Genome Research.  28 (2018)  11 - p. 1621-1635 , 2018
Link: https://doi.org/10.1101/..
 
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