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W. Wasserman · SciRah

Researcher profile · Semantic Scholar

W. Wasserman

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W. Wasserman — researcher profile on SciRah

h-index: 71
Works: 266
Citations: 33K

Most-cited papers

JASPAR 2020: update of the open-access database of transcription factor binding profiles
O. Fornes, J. Castro-Mondragon, Aziz Khan, R. van der Lee +15 more
2019Nucleic Acids Res.1,792 citations Open access
Semantic Scholar
JASPAR 2024: 20th anniversary of the open-access database of transcription factor binding profiles
Ieva Rauluseviciute, R. Riudavets-Puig, Romain Blanc-Mathieu, J. Castro-Mondragon +16 more
2023Nucleic Acids Research996 citations Open access
Semantic Scholar
JASPAR 2018: update of the open-access database of transcription factor binding profiles and its web framework
Aziz Khan, O. Fornes, Arnaud Stigliani, Marius Gheorghe +15 more
2017Nucleic Acids Res.990 citations Open access
Semantic Scholar
JASPAR 2022: the 9th release of the open-access database of transcription factor binding profiles
J. Castro-Mondragon, R. Riudavets-Puig, Ieva Rauluseviciute, Roza Berhanu Lemma +19 more
2021Nucleic Acids Res.906 citations Open access
Semantic Scholar
Obtaining genetics insights from deep learning via explainable artificial intelligence
Gherman Novakovsky, N. Dexter, M. Libbrecht, W. Wasserman +1 more
2022Nature reviews genetics384 citations
Semantic Scholar
Interfaces of Malignant and Immunologic Clonal Dynamics in Ovarian Cancer.
Allen W. Zhang, Andrew W. McPherson, K. Milne, David R. Kroeger +41 more
2018Cell326 citations Open access
Semantic Scholar
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data
E. Dolzhenko, M. Bennett, P. Richmond, B. Trost +15 more
2019Genome Biology171 citations Open access
Semantic Scholar
Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism
Jessica J. Y. Lee, W. Wasserman, G. Hoffmann, C. van Karnebeek +1 more
2017Genetics in Medicine100 citations Open access
Semantic Scholar
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights
D. Johnstone, Hilal H. Al-Shekaili, M. Tarailo-Graovac, N. Wolf +49 more
2019Brain : a journal of neurology83 citations Open access
Semantic Scholar
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS
A. V. van Kuilenburg, M. Tarailo-Graovac, P. Richmond, B. Drögemöller +41 more
2019New England Journal of Medicine78 citations Open access
Semantic Scholar
The role of the clinician in the multi-omics era: are you ready?
C. van Karnebeek, S. Wortmann, M. Tarailo-Graovac, M. Langeveld +9 more
2018Journal of Inherited Metabolic Disease78 citations Open access
Semantic Scholar
Indigenous Genomic Databases: Pragmatic Considerations and Cultural Contexts
N. Caron, M. Chongo, M. Hudson, L. Arbour +4 more
2020Frontiers in Public Health72 citations Open access
Semantic Scholar
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease
Mehul Sharma, D. Leung, M. Momenilandi, L. Jones +90 more
2023Journal of Experimental Medicine71 citations Open access
Semantic Scholar
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
C. van Karnebeek, R. Ramos, X. Wen, M. Tarailo-Graovac +29 more
2019American Journal of Human Genetics70 citations Open access
Semantic Scholar
ExplaiNN: interpretable and transparent neural networks for genomics
Gherman Novakovsky, O. Fornes, Manu Saraswat, S. Mostafavi +1 more
2022bioRxiv57 citations Open access
Semantic Scholar
Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function.
X. Wen, M. Tarailo-Graovac, K. Brand-Arzamendi, A. Willems +27 more
2018JCI Insight55 citations Open access
Semantic Scholar
Atypical cerebral palsy: genomics analysis enables precision medicine
A. Matthews, I. Blydt-Hansen, B. Al-Jabri, J. Andersen +21 more
2018Genetics in Medicine54 citations Open access
Semantic Scholar
TFEA.ChIP: A tool kit for transcription factor binding site enrichment analysis capitalizing on ChIP-seq datasets
Laura Puente-Santamaría, W. Wasserman, L. del Peso
2018bioRxiv51 citations Open access
Semantic Scholar
Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review
Emma Graham, Jessica J. Y. Lee, Magda Price, M. Tarailo-Graovac +8 more
2018Journal of Inherited Metabolic Disease45 citations Open access
Semantic Scholar
Deregulated Regulators: Disease-Causing cis Variants in Transcription Factor Genes.
R. van der Lee, S. Correard, W. Wasserman
2020Trends in Genetics44 citations Open access
Semantic Scholar
Biologically relevant transfer learning improves transcription factor binding prediction
Gherman Novakovsky, Manu Saraswat, O. Fornes, S. Mostafavi +1 more
2020Genome Biology43 citations Open access
Semantic Scholar
Cross-species examination of X-chromosome inactivation highlights domains of escape from silencing
Bradley P. Balaton, O. Fornes, W. Wasserman, Carolyn J. Brown
2020Epigenetics & Chromatin42 citations Open access
Semantic Scholar
A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency
O. Fornes, Alicia Jia, H. Kuehn, Qing Min +98 more
2023Science immunology39 citations
Semantic Scholar
The stepwise process of integrating a genetic counsellor into primary care
C. Slomp, E. Morris, B. Knoppers, L. Lynd +15 more
2022European Journal of Human Genetics37 citations Open access
Semantic Scholar
New MiniPromoter Ple345 (NEFL) Drives Strong and Specific Expression in Retinal Ganglion Cells of Mouse and Primate Retina
Elizabeth M. Simpson, Andrea J. Korecki, O. Fornes, T. Mcgill +12 more
2019Human Gene Therapy35 citations Open access
Semantic Scholar
Human MiniPromoters for ocular-rAAV expression in ON bipolar, cone, corneal, endothelial, Müller glial, and PAX6 cells
Andrea J. Korecki, J. Cueva-Vargas, O. Fornes, Jessica Agostinone +8 more
2021Gene Therapy34 citations Open access
Semantic Scholar
The genotypic and phenotypic spectrum of MTO1 deficiency
J. O'Byrne, M. Tarailo-Graovac, A. Ghani, M. Champion +29 more
2018Molecular Genetics and Metabolism34 citations Open access
Semantic Scholar
Targeting AXL kinase sensitizes leukemic stem and progenitor cells to venetoclax treatment in acute myeloid leukemia
Xiaojia Niu, K. Rothe, Min Chen, S. Grasedieck +19 more
2021Blood32 citations Open access
Semantic Scholar
Discovery of widespread transcription initiation at microsatellites predictable by sequence-based deep neural network
Mathys Grapotte, Manu Saraswat, Chloé Bessière, Christophe Menichelli +20 more
2020Nature Communications31 citations Open access
Semantic Scholar
c-Myc is a novel Leishmania virulence factor by proxy that targets the host miRNA system and is essential for survival in human macrophages
Lucie Colineau, U. Lambertz, O. Fornes, W. Wasserman +1 more
2018Journal of Biological Chemistry30 citations Open access
Semantic Scholar
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
Alison M. Elliott, S. Adam, C. du Souich, A. Lehman +47 more
2022HGG advances26 citations Open access
Semantic Scholar
Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy
P. Richmond, F. M. van der Kloet, F. Vaz, D. Lin +11 more
2020Frontiers in Cell and Developmental Biology26 citations Open access
Semantic Scholar
The Genome Atlas: Navigating a New Era of Reference Genomes.
A. M. Kaye, W. Wasserman
2021Trends in Genetics25 citations Open access
Semantic Scholar
Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome
G. Horvath, M. Tarailo-Graovac, T. Bartel, Simone Race +6 more
2018Journal of Child Neurology24 citations Open access
Semantic Scholar
Transcriptional reprogramming by mutated IRF4 in lymphoma
N. Schleussner, P. Cauchy, V. Franke, Maciej Giefing +42 more
2023Nature Communications22 citations Open access
Semantic Scholar
Twenty-Seven Tamoxifen-Inducible iCre-Driver Mouse Strains for Eye and Brain, Including Seventeen Carrying a New Inducible-First Constitutive-Ready Allele
Andrea J. Korecki, J. Hickmott, S. Lam, L. Dreolini +13 more
2019Genetics22 citations Open access
Semantic Scholar
Gain-of-function KCNJ6 mutation in a severe hyperkinetic movement disorder phenotype
G. Horvath, Yu-Lin Zhao, M. Tarailo-Graovac, C. Boelman +11 more
2018Neuroscience22 citations Open access
Semantic Scholar
Adult GAMT deficiency: A literature review and report of two siblings
Bhavi P. Modi, H. Khan, R. van der Lee, Muhammad Wasim +12 more
2021Molecular Genetics and Metabolism Reports17 citations Open access
Semantic Scholar
Using human induced pluripotent stem cell-derived cardiomyocytes to understand the mechanisms driving cardiomyocyte maturation
Homa Hamledari, Parisa Asghari, Farah Jayousi, Alejandro Aguirre +8 more
2022Frontiers in Cardiovascular Medicine16 citations Open access
Semantic Scholar
In silico discovery of small molecules for efficient stem cell differentiation into definitive endoderm
Gherman Novakovsky, Shugo Sasaki, O. Fornes, Meltem E. Omur +9 more
2021bioRxiv16 citations Open access
Semantic Scholar
Human progranulin-expressing mice as a novel tool for the development of progranulin-modulating therapeutics.
T. Petkau, Benjamin Life, G. Lu, Ja-Hui Yang +4 more
2021Neurobiology of Disease16 citations Open access
Semantic Scholar
metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes
E. G. Graham-Linck, P. Richmond, M. Tarailo-Graovac, U. Engelke +6 more
2020npj Genomic Medicine16 citations Open access
Semantic Scholar
Gene expression models based on transcription factor binding events confer insight into functional cis-regulatory variants
Wenqiang Shi, O. Fornes, W. Wasserman
2018Bioinform.15 citations Open access
Semantic Scholar
Identification of novel cerebellar developmental transcriptional regulators with motif activity analysis
Thomas J. Ha, Peter G. Y. Zhang, R. Robert, J. Yeung +13 more
2019BMC Genomics14 citations Open access
Semantic Scholar
Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B cell malignancy.
Mehul Sharma, Maggie P. Fu, Henry Y. Lu, Ashish A. Sharma +20 more
2022Blood13 citations Open access
Semantic Scholar
MANTA2, update of the Mongo database for the analysis of transcription factor binding site alterations
O. Fornes, Marius Gheorghe, P. Richmond, David J. Arenillas +2 more
2018Scientific Data13 citations Open access
Semantic Scholar
Refining the genomic determinants underlying escape from X-chromosome inactivation
Samantha B Peeters, Tiffany Y. Leung, O. Fornes, Rachelle A. Farkas +2 more
2022NAR Genomics and Bioinformatics10 citations Open access
Semantic Scholar
Curation and bioinformatic analysis of strabismus genes supports functional heterogeneity and proposes candidate genes with connections to RASopathies.
X. Ye, R. van der Lee, W. Wasserman
2019Gene10 citations Open access
Semantic Scholar
Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12
A. V. van Kuilenburg, M. Tarailo-Graovac, J. Meijer, B. Drogemoller +8 more
2018Human Mutation9 citations Open access
Semantic Scholar
JASPAR: an open-access database of transcription factor binding profiles
Aziz Khan, O. Fornes, Arnaud Stigliani, Marius Gheorghe +15 more
20189 citations Open access
Semantic Scholar

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