引用次数
引用: 2,685
H-指数: 25
I10-指数 : 34
出版物: 54
Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL.
Bryndis Yngvadottir , Louise Tee , Eamonn R Maher , Neil V Morgan
Brain communications 3 ( 1)
2021
Association of the C8orf13-BLK region with systemic sclerosis in North-American and European populations.
Pravitt Gourh , Sandeep K Agarwal , Ezequiel Martin , Dipal Divecha
Journal of Autoimmunity 34 ( 2) 155 -162
107
2010
Elongin C (ELOC/TCEB1)-associated von Hippel--Lindau disease
Avgi Andreou , Bryndis Yngvadottir , Laia Bassaganyas , Graeme Clark
Human molecular genetics 31 ( 16) 2728 -2737
1
2022
Epigenotype–genotype–phenotype correlations in SETD1A and SETD2 chromatin disorders
Sunwoo Lee , Lara Menzies , Eleanor Hay , Eguzkine Ochoa
Human Molecular Genetics 32 ( 22) 3123 -3134
5
2023
The IRF5–TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share
Leah C Kottyan , Erin E Zoller , Jessica Bene , Xiaoming Lu
Human molecular genetics 24 ( 2) 582 -596
88
2014
Comparison of methylation episignatures in KMT2B-and KMT2D-related human disorders
Sunwoo Lee , Eguzkine Ochoa , Katy Barwick , Laura Cif
Epigenomics 14 ( 9) 537 -547
13
2022
ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance
Eguzkine Ochoa , Sunwoo Lee , Benoit Lan-Leung , Renuka P Dias
Genetics in Medicine 24 ( 2) 463 -474
13
2022
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome
Sunwoo Lee , Eguzkine Ochoa , Magdalena Badura-Stronka , Deirdre Donnelly
European Journal of Human Genetics 31 ( 9) 1040 -1047
4
2023
Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort
Bettina Winzeler , Nicola Tufton , Eugenie S Lim , Ben G Challis
Clinical Endocrinology 97 ( 4) 448 -459
3
2022
New diagnostic tool for multi-locus imprinting disturbances
Eguzkine Ochoa , Sunwoo Lee , Benoit Lan-Leung , Renuka Dias
EUROPEAN JOURNAL OF HUMAN GENETICS 30 ( SUPPL 1) 549 -550
2022
Circumventing the polydactyly 'constraint': the mole's 'thumb'.
Christian Mitgutsch , Michael K. Richardson , Rafael Jiménez , José E. Martin
Biology Letters 8 ( 1) 74 -77
27
2012
Evidence for PTPN22 R620W Polymorphism As the Sole Common Risk Variant for Rheumatoid Arthritis in the 1p13.2 Region
JOSE-EZEQUIEL MARTÍN , BEHROOZ Z. ALIZADEH , MIGUEL A. GONZÁLEZ-GAY , ALEJANDRO BALSA
The Journal of Rheumatology 38 ( 11) 2290 -2296
18
2011
SERS analysis of cancer cell-secreted purines reveals a unique paracrine crosstalk in MTAP-deficient tumors
Pablo S Valera , Javier Plou , Isabel García , Ianire Astobiza
Proceedings of the National Academy of Sciences 120 ( 52) e2311674120 -e2311674120
2
2023
Exploring kidney allograft rejection: A proof-of-concept study using spatial transcriptomics
Cristina Martin-Martin , Beatriz Suarez-Alvarez , Monika González , Irina B Torres
American Journal of Transplantation
2024
Cytokine levels and circulating DNA profiling in plasma as biomarkers of response to immunotherapy in hepatocellular carcinoma
Elena Vargas Accarino , Monica Higuera , María Bermúdez , Monica Pons
Journal of Hepatology 78 S533 -S534
2023
Acquired CARD11 Mutation Promotes BCR Independence in Diffuse Large B Cell Lymphoma
Daniel J Hodson , Shubha Anand , Rebecca Caeser , Jose-Ezequiel Martin
JCO Precision Oncology 5 ( 5) 145 -152
2021
Breast cancer in multiple endocrine neoplasia type 1 (MEN1).
Benjamin G Challis , Soo-Mi Park , Ruth T Casey , Craig Parkinson
Endocrinology, Diabetes & Metabolism Case Reports 2021
2021
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
James Whitworth , Philip S Smith , Jose-Ezequiel Martin , Hannah West
American Journal of Human Genetics 103 ( 1) 3 -18
23
2018
The systemic lupus erythematosus IRF5 risk haplotype is associated with systemic sclerosis
F. David Carmona , Jose-Ezequiel Martin , Lorenzo Beretta , Carmen P. Simeón
PLOS ONE 8 ( 1) 1 -6
81
2013
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus
Timothy RDJ Radstake , Olga Gorlova , Blanca Rueda , Jose-Ezequiel Martin
Nature Genetics 42 ( 5) 426 -429
312
2010
Eamonn Maher Miguel A. González-Gay Javier Martin Timothy Radstake Eguzkine Ochoa Lara Bossini-Castillo Rafael Jiménez Medina Bobby P C Koeleman Behrooz Z. Alizadeh Xavier Estivill MD PhD Marcelo R. Sánchez-Villagra F. David Carmona Dario G. Lupiañez Miguel Burgos Lude Franke Norberto Ortego Centeno Luis Rodrigo. (ORCID: 0000-0003-1717-9345)