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Elise Valkanas
Elise Valkanas
PhD Student, Harvard University
Dirección de correo verificada de g.harvard.edu
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A structural variation reference for medical and population genetics
RL Collins, H Brand, KJ Karczewski, X Zhao, J Alföldi, LC Francioli, ...
Nature 581 (7809), 444-451, 2020
7092020
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency
WP Bone, NL Washington, OJ Buske, DR Adams, J Davis, D Draper, ...
Genetics in Medicine 18 (6), 608-617, 2016
1002016
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States
HM Reddy, KA Cho, M Lek, E Estrella, E Valkanas, MD Jones, ...
Journal of human genetics 62 (2), 243-252, 2017
892017
An open resource of structural variation for medical and population genetics
RL Collins, H Brand, KJ Karczewski, X Zhao, J Alföldi, AV Khera, ...
BioRxiv, 578674, 2019
832019
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
A Töpf, K Johnson, A Bates, L Phillips, KR Chao, EM England, ...
Genetics in medicine 22 (9), 1478-1488, 2020
712020
Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes
S Marchegiani, T Davis, F Tessadori, G Van Haaften, F Brancati, ...
The American Journal of Human Genetics 97 (1), 99-110, 2015
682015
Centers for Mendelian Genomics: A decade of facilitating gene discovery
SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ...
Genetics in Medicine 24 (4), 784-797, 2022
472022
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained …
K Johnson, M Bertoli, L Phillips, A Töpf, P Van den Bergh, J Vissing, ...
Skeletal muscle 8 (1), 23, 2018
442018
Defining disease, diagnosis, and translational medicine within a homeostatic perturbation paradigm: The national institutes of health undiagnosed diseases program experience
T Gall, E Valkanas, C Bello, T Markello, C Adams, WP Bone, AJ Brandt, ...
Frontiers in medicine 4, 62, 2017
362017
Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration
F Jamshidi, EM Place, S Mehrotra, D Navarro-Gomez, M Maher, ...
Genetics in Medicine 21 (3), 694-704, 2019
322019
Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration
F Jamshidi, EM Place, S Mehrotra, D Navarro-Gomez, M Maher, ...
Genetics in Medicine 21 (3), 694-704, 2019
322019
matchbox: An open‐source tool for patient matching via the Matchmaker Exchange
H Arachchi, MH Wojcik, B Weisburd, JOB Jacobsen, E Valkanas, S Baxter, ...
Human mutation 39 (12), 1827-1834, 2018
262018
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
GC Dworschak, J Punetha, JC Kalanithy, E Mingardo, HB Erdem, ...
Genetics in Medicine 23 (9), 1715-1725, 2021
252021
Phenotypic evolution of UNC80 loss of function
E Valkanas, K Schaffer, C Dunham, V Maduro, C du Souich, R Rupps, ...
American Journal of Medical Genetics Part A 170 (12), 3106-3114, 2016
252016
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
LB Waddell, SJ Bryen, BB Cummings, A Bournazos, FJ Evesson, H Joshi, ...
Neurology: Genetics 7 (1), e554, 2021
222021
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan
M Saha, HM Reddy, MA Salih, E Estrella, MD Jones, S Mitsuhashi, ...
Physiological genomics 50 (11), 929-939, 2018
202018
Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience
EMJ Lee, K Xu, E Mosbrook, A Links, J Guzman, DR Adams, E Flynn, ...
Genetics in Medicine 18 (12), 1303-1307, 2016
162016
Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders
C Lowther, E Valkanas, JL Giordano, HZ Wang, BB Currall, K O’Keefe, ...
bioRxiv, 2020
122020
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
C Lowther, E Valkanas, JL Giordano, HZ Wang, BB Currall, K O’Keefe, ...
The American Journal of Human Genetics 110 (9), 1454-1469, 2023
92023
Author Correction: A structural variation reference for medical and population genetics
RL Collins, H Brand, KJ Karczewski, X Zhao, J Alföldi, LC Francioli, ...
Nature 590 (7846), E55-E55, 2021
72021
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