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Author
Lies H. Hoefsloot
also known as Alain Taieb, Hoefsloot, Lies, Hoefsloot, Lies H
Erasmus MC · Oslo University Hospital · Hudson Institute · Radboud University Nijmegen
About this author
Works
201
Cited by
12,474
h-index
62
i10
138
ORCID ↗
Top papers
GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study
Rikkert L. Snoeckx, P.L.M. Huygen, Delphine Feldmann, et al.
·
2005
·
The American Journal of Human Genetics
↗ 555
OA
CHARGE syndrome: the phenotypic spectrum of mutations in the <i>CHD7</i> gene
M.C.J. Jongmans, R.J.C. Admiraal, Kim P. van der Donk, et al.
·
2005
·
Journal of Medical Genetics
↗ 460
OA
<scp>EAA</scp>/<scp>EMQN</scp> best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: state‐of‐the‐art 2013
Csilla Krausz, Lies H. Hoefsloot, Manuela Simoni, et al.
·
2013
·
Andrology
↗ 419
OA
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
Johannes G. Dauwerse, Jill Dixon, Saskia Seland, et al.
·
2010
·
Nature Genetics
↗ 366
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype–phenotype correlations
Marcel Nelen, Hannie Kremer, Irene B. M. Konings, et al.
·
1999
·
European Journal of Human Genetics
↗ 348
OA
A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
Kornelia Neveling, Ilse Feenstra, Christian Gilissen, et al.
·
2013
·
Human Mutation
↗ 339
OA
<i>CHD7</i> mutations and CHARGE syndrome: the clinical implications of an expanding phenotype
Jorieke E. H. Bergman, Natasja I. Janssen, Lies H. Hoefsloot, et al.
·
2011
·
Journal of Medical Genetics
↗ 313
Next‐generation genetic testing for retinitis pigmentosa
Kornelia Neveling, Rob W.J. Collin, Christian Gilissen, et al.
·
2012
·
Human Mutation
↗ 286
OA
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma
Jean‐Pierre Bayley, Henricus P. M. Kunst, Alberto Cascón, et al.
·
2010
·
The Lancet Oncology
↗ 269
Mutation update on the CHD7 gene involved in CHARGE syndrome
Nicole Janssen, Jorieke E. H. Bergman, Morris A. Swertz, et al.
·
2012
·
Human Mutation
↗ 255
Mutations in the pre-replication complex cause Meier-Gorlin syndrome
Louise S. Bicknell, Ernie M.H.F. Bongers, Andrea Leitch, et al.
·
2011
·
Nature Genetics
↗ 251
OA
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis
Aad Verrips, Lies H. Hoefsloot, Gerry Steenbergen, et al.
·
2000
·
Brain
↗ 248
OA