L
Lies H. Hoefsloot
Researcher at Erasmus University Rotterdam
Publications - 155
Citations - 10013
Lies H. Hoefsloot is an academic researcher from Erasmus University Rotterdam. The author has contributed to research in topics: Gene & Hearing loss. The author has an hindex of 55, co-authored 146 publications receiving 8929 citations. Previous affiliations of Lies H. Hoefsloot include Radboud University Nijmegen Medical Centre & Radboud University Nijmegen.
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Journal ArticleDOI
GJB2 mutations and degree of hearing loss: a multicenter study.
Rikkert L. Snoeckx,Patrick L. M. Huygen,Delphine Feldmann,Sandrine Marlin,Françoise Denoyelle,Jaroslaw Waligora,Małgorzata Mueller-Malesińska,Agneszka Pollak,Rafał Płoski,Alessandra Murgia,Eva Orzan,Pierangela Castorina,Umberto Ambrosetti,Ewa Nowakowska-Szyrwinska,Jerzy Bal,Wojciech Wiszniewski,Andreas R. Janecke,Doris Nekahm-Heis,Pavel Seeman,O. Bendová,Margaret A. Kenna,Anna Frangulov,Heidi L. Rehm,Mustafa Tekin,Armagan Incesulu,Hans Henrik M. Dahl,Desirée du Sart,Lucy Jenkins,Deirdre Lucas,Maria Bitner-Glindzicz,Karen B. Avraham,Zippora Brownstein,Ignacio del Castillo,Felipe Moreno,Nikolaus Blin,Markus Pfister,István Sziklai,Tímea Tóth,Philip M. Kelley,Edward S. Cohn,Lionel Van Maldergem,Pascale Hilbert,Anne Françoise Roux,Michel Mondain,Lies H. Hoefsloot,Cor W. R. J. Cremers,Tuija Löppönen,Heikki Löppönen,Agnete Parving,Karen Grønskov,Iris Schrijver,Joseph B. Roberson,Francesca Gualandi,Alessandro Martini,Geneviève Lina-Granade,Nathalie Pallares-Ruiz,Céu Correia,Graça Fialho,Kim Cryns,Nele Hilgert,Paul Van de Heyning,Carla Nishimura,Richard J.H. Smith,Guy Van Camp +63 more
TL;DR: The association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations was assessed and two genotypes had significantly more-severe HI than that of 35delG homozygotes.
Journal ArticleDOI
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,Lies H. Hoefsloot,Erik-Jan Kamsteeg,Arjen R. Mensenkamp,Richard J. Rodenburg,Helger G. Yntema,Liesbeth Spruijt,Sascha Vermeer,Tuula Rinne,Koen L.I. van Gassen,Danielle Bodmer,Dorien Lugtenberg,Rick de Reuver,Wendy Buijsman,Ronny Derks,Nienke Wieskamp,Bert van den Heuvel,Marjolijn J. L. Ligtenberg,Hannie Kremer,David A. Koolen,Bart P.C. van de Warrenburg,Frans P.M. Cremers,Carlo Marcelis,Jan A.M. Smeitink,Saskia B. Wortmann,Wendy A. G. van Zelst-Stams,Joris A. Veltman,Han G. Brunner,Hans Scheffer,Marcel R. Nelen +31 more
TL;DR: It is found that exome sequencing has a much higher diagnostic yield than Sanger sequencing for deafness, blindness, mitochondrial disease, and movement disorders, and for microsatellite‐stable colorectal cancer, this was low under both strategies.
Journal ArticleDOI
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
Johannes G. Dauwerse,Jill Dixon,Saskia Seland,Claudia A. L. Ruivenkamp,Arie van Haeringen,Lies H. Hoefsloot,Dorien J.M. Peters,Agnes Clement De Boers,Cornelia Daumer-Haas,Robert Maiwald,Christiane Zweier,Bronwyn Kerr,Ana M. Cobo,Joaquín F. Toral,A. Jeannette M. Hoogeboom,Dietmar R. Lohmann,Ute Hehr,Michael J. Dixon,Martijn H. Breuning,Dagmar Wieczorek +19 more
TL;DR: These findings identify two additional genes involved in TCS, confirm the genetic heterogeneity of TCS and support the hypothesis that TCS is a ribosomopathy.
Journal ArticleDOI
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.
Marcel R. Nelen,Hannie Kremer,I B Konings,F Schoute,A. J. van Essen,R Koch,C.G. Woods,Jean-Pierre Fryns,B.C.J. Hamel,Lies H. Hoefsloot,E A Peeters,George W. Padberg +11 more
TL;DR: It is estimated that CD has a prevalence of about 1 in 250 000 in the Dutch population with a low mutation frequency and it is likely that the majority of CD patients in the Netherlands are likely to have been identified.
Journal ArticleDOI
Next-generation genetic testing for retinitis pigmentosa.
Kornelia Neveling,Rob W.J. Collin,Christian Gilissen,Ramon A.C. van Huet,Linda Visser,Michael Kwint,Sabine Gijsen,Marijke N. Zonneveld,Nienke Wieskamp,Joep de Ligt,Anna M. Siemiatkowska,Lies H. Hoefsloot,Michael F. Buckley,Ulrich Kellner,Kari Branham,Anneke I. den Hollander,Alexander Hoischen,Carel B. Hoyng,B. Jeroen Klevering,L. Ingeborgh van den Born,Joris A. Veltman,Frans P.M. Cremers,Hans Scheffer +22 more
TL;DR: This study demonstrates the enormous potential and clinical utility of NGS in molecular diagnosis of genetically heterogeneous diseases such as RP, and de novo dominant mutations appear to play a significant role in patients with isolated RP, having major implications for genetic counselling.