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Alba Sanchis-Juan
Alba Sanchis-Juan
Postdoctoral Fellow at Broad Institute of MIT and Harvard
在 mgh.harvard.edu 的电子邮件经过验证
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引用次数
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Whole-genome sequencing of patients with rare diseases in a national health system
E Turro, WJ Astle, K Megy, S Gräf, D Greene, O Shamardina, HL Allen, ...
Nature 583 (7814), 96-102, 2020
4502020
Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease
KJ Carss, G Arno, M Erwood, J Stephens, A Sanchis-Juan, S Hull, K Megy, ...
The American Journal of Human Genetics 100 (1), 75-90, 2017
4432017
A genomic mutational constraint map using variation in 76,156 human genomes
S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai, Q Wang, J Alföldi, ...
Nature 625 (7993), 92-100, 2024
2612024
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions
E Dolzhenko, V Deshpande, F Schlesinger, P Krusche, R Petrovski, ...
Bioinformatics 35 (22), 4754-4756, 2019
2462019
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
CE French, I Delon, H Dolling, A Sanchis-Juan, O Shamardina, K Mégy, ...
Intensive care medicine 45, 627-636, 2019
2182019
Germline selection shapes human mitochondrial DNA diversity
W Wei, S Tuna, MJ Keogh, KR Smith, TJ Aitman, PL Beales, DL Bennett, ...
Science 364 (6442), eaau6520, 2019
1992019
Whole-genome sequencing of a sporadic primary immunodeficiency cohort
JED Thaventhiran, H Lango Allen, OS Burren, W Rae, D Greene, ...
Nature 583 (7814), 90-95, 2020
1912020
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short-and long-read genome sequencing
A Sanchis-Juan, J Stephens, CE French, N Gleadall, K Mégy, C Penkett, ...
Genome medicine 10, 1-10, 2018
1672018
Babelomics 5.0: functional interpretation for new generations of genomic data
R Alonso, F Salavert, F Garcia-Garcia, J Carbonell-Caballero, M Bleda, ...
Nucleic acids research 43 (W1), W117-W121, 2015
1402015
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
C Hadinnapola, M Bleda, M Haimel, N Screaton, A Swift, P Dorfmüller, ...
Circulation 136 (21), 2022-2033, 2017
1332017
De novo pathogenic variants in CACNA1E cause developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias
KL Helbig, RJ Lauerer, JC Bahr, IA Souza, CT Myers, B Uysal, N Schwarz, ...
The American Journal of Human Genetics 103 (5), 666-678, 2018
1192018
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data
X Chen, A Sanchis-Juan, CE French, AJ Connell, I Delon, Z Kingsbury, ...
Genetics in Medicine 22 (5), 945-953, 2020
1092020
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
T Lorenzini, M Fliegauf, N Klammer, N Frede, M Proietti, A Bulashevska, ...
Journal of Allergy and Clinical Immunology 146 (4), 901-911, 2020
1082020
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
W Wei, AT Pagnamenta, N Gleadall, A Sanchis-Juan, J Stephens, ...
Nature communications 11 (1), 1740, 2020
982020
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
L Cif, D Demailly, JP Lin, KE Barwick, M Sa, L Abela, S Malhotra, ...
Brain 143 (11), 3242-3261, 2020
782020
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
JHR Farmery, ML Smith, AG Lynch
Scientific reports 8 (1), 1300, 2018
692018
Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes
J Whitworth, PS Smith, JE Martin, H West, A Luchetti, F Rodger, G Clark, ...
The American Journal of Human Genetics 103 (1), 3-18, 2018
632018
Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia
KM Gorman, E Meyer, D Grozeva, E Spinelli, A McTague, A Sanchis-Juan, ...
The American Journal of Human Genetics 104 (5), 948-956, 2019
622019
De novo VPS4A mutations cause multisystem disease with abnormal neurodevelopment
C Rodger, E Flex, RJ Allison, A Sanchis-Juan, MA Hasenahuer, ...
The American Journal of Human Genetics 107 (6), 1129-1148, 2020
482020
Beyond the exome: what’s next in diagnostic testing for Mendelian conditions
MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ...
The American Journal of Human Genetics 110 (8), 1229-1248, 2023
462023
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