Lies H. Hoefsloot

12.2k citations

136 papers · 6.6k indexed · h-index 45

Sensory Systems top 0.2%
- Hearing, Cochlea, Tinnitus, Genetics 31
Genetics top 0.5%
- Congenital Ear and Nasal Anomalies 21
Genetics top 1%
- Congenital Ear and Nasal Anomalies 21
Otorhinolaryngology top 1%
Ophthalmology top 1%
- Retinal Diseases and Treatments 11
Pulmonary and Respiratory Medicine
- Tracheal and airway disorders 22
Molecular Biology
- Retinal Development and Disorders 12
- Congenital heart defects research 10
Neurology
- Vestibular and auditory disorders 11
Pediatrics, Perinatology and Child Health
- Prenatal Screening and Diagnostics 10

Co-authors: Frans P.M. Cremers Hannie Kremer Cor W. R. J. Cremers Jorieke E. H. Bergman Conny M.A. van Ravenswaaij‐Arts Ivo P. Touw Bob Löwenberg Csilla Krausz
Cited by: Sensory Systems Genetics
Journals: Proceedings of the National Academy of Sciences (1 paper)Nucleic Acids Research (1 paper)Nature Genetics (1 paper)
Partner nations: Netherlands Germany United States

In The Last Decade

Lies H. Hoefsloot

132 papers receiving 6.5k citations

Peers

Countries citing papers authored by Lies H. Hoefsloot

Since Specialization

Citations

This map shows the geographic impact of Lies H. Hoefsloot's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Lies H. Hoefsloot with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Lies H. Hoefsloot more than expected).

Fields of papers citing papers by Lies H. Hoefsloot

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Lies H. Hoefsloot. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Lies H. Hoefsloot. The network helps show where Lies H. Hoefsloot may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Lies H. Hoefsloot, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Lies H. Hoefsloot Line = papers co-authored together Lies H. Hoefsloot links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium Investigative Ophthalmology & Visual Science ·Pam A T Heutinck,L. Ingeborgh van den Born,Maikel Vermeer,Adriana I. Iglesias Gonzales,Carel B. Hoyng,Jan Willem R. Pott,Hester Y. Kroes,Mary J. van Schooneveld,Camiel J. F. Boon,Maria M. van Genderen,Astrid S. Plomp,Yvonne de Jong‐Hesse,Michelle B. van Egmond‐Ebbeling,Lies H. Hoefsloot,Arthur A. Bergen,Caroline C. W. Klaver,Magda A. Meester‐Smoor,Alberta A. H. J. Thiadens,Virginie J. M. Verhoeven	2024	0
2	The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis European Journal of Medical Genetics ·Karin E. M. Diderich,Jasmijn E. Klapwijk,Vyne van der Schoot,Myrthe van den Born,Martina Wilke,Marieke Joosten,Kyra E. Stuurman,Lies H. Hoefsloot,Diane Van Opstal,Hennie T. Brüggenwirth,Malgorzata I. Srebniak	2023	6
3	Chromosomal mosaicism in human blastocysts: a cytogenetic comparison of trophectoderm and inner cell mass after next-generation sequencing Reproductive BioMedicine Online ·Effrosyni A. Chavli,Myrthe van den Born,Cindy Eleveld,Marjan Boter,Ronald van Marion,Lies H. Hoefsloot,Joop S.E. Laven,Esther B. Baart,Diane Van Opstal	2022	9
4	Diagnostic exome sequencing in 50 patients with high myopia Investigative Ophthalmology & Visual Science ·Virginie J. M. Verhoeven,Annechien E. G. Haarman,Jan Roelof Polling,Marianne van Tienhoven,Alberta A. H. J. Thiadens,Sjoukje E. Loudon,Arjan Bouman,Anneke J.A. Kievit,Lies H. Hoefsloot,Caroline C. W. Klaver	2020	1
5	Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis Molecular Therapy — Methods & Clinical Development ·Stijn L.M. in ‘t Groen,Douglas Oliveira Soares de Faria,Alessandro Iuliano,Johanna M. P. van den Hout,Hannie Douben,Trijnie Dijkhuizen,David Cassiman,Peter Witters,Miguel‐Ángel Barba Romero,Annelies de Klein,Galhana M. Somers‐Bolman,Jasper J. Saris,Lies H. Hoefsloot,Ans T. van der Ploeg,Atze J. Bergsma,W.W.M. Pim Pijnappel	2020	13
6	Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays European Journal of Human Genetics ·Ineke Labrijn-Marks,Galhana M. Somers‐Bolman,Stijn L. M. In ’t Groen,Marianne Hoogeveen‐Westerveld,Marian A. Kroos,Sirpa Ala‐Mello,Olga Amaral,Clara Sá-Miranda,Irene Mavridou,Helen Michelakakis,K Naess,Frans W. Verheijen,Lies H. Hoefsloot,Trijnie Dijkhuizen,Marloes Benjamins,Hannerieke J. M. van den Hout,Ans T. van der Ploeg,W.W.M. Pim Pijnappel,Jasper J. Saris,Dicky Halley	2019	8
7	Kallmann syndrome and schizophrenia: Is there a relationship? European Archives of Psychiatry and Clinical Neuroscience ·W.M.A. Verhoeven,J.I.M. Egger,J.H. Hovens,Nicole de Leeuw,Lies H. Hoefsloot	2013	1
8	More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated Molecular Syndromology ·Nicole Corsten‐Janssen,Sulagna C. Saitta,Lies H. Hoefsloot,Donna M. McDonald‐McGinn,D.A. Driscoll,Ronny Derks,Kimberley Dickinson,Wilhelmina S. Kerstjens‐Frederikse,Beverly S. Emanuel,Elaine H. Zackai,Conny M.A. van Ravenswaaij‐Arts	2013	36
9	New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis Nephrology Dialysis Transplantation ·Julia M. Hofstra,Sergio Laínez,Willie H.M. van Kuijk,Jeroen Schoots,Marijke Baltissen,Lies H. Hoefsloot,Nine V.A.M. Knoers,Jo H. M. Berden,René J.M. Bindels,Johan van der Vlag,Joost G.J. Hoenderop,Jack F.M. Wetzels,Tom Nijenhuis	2013	40
10	Clinical and Genetic Characteristics of Late-onset Stargardt's Disease Ophthalmology ·Sarah C. Westeneng-van Haaften,Camiel J.F. Boon,Frans P.M. Cremers,Lies H. Hoefsloot,Anneke I. den Hollander,Carel B. Hoyng	2012	150
11	A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome Human Mutation ·Jorieke E. H. Bergman,Nicole Janssen,Almer M. van der Sloot,Hermien E. K. de Walle,Jeroen Schoots,Nanna Dahl Rendtorff,Lisbeth Tranebjærg,Lies H. Hoefsloot,Conny M.A. van Ravenswaaij‐Arts,Robert M.W. Hofstra	2012	50
12	Ten years of EAA/EMQN quality control scheme for microdeletions of the Y chromosome 15th International & 14th European Congress of Endocrinology ·Frank Tüttelmann,Lies H. Hoefsloot,S. J. Patton,Manuela Simoni,Csilla Krausz	2012	1
13	Is routine karyotyping required in prenatal samples with a molecular or metabolic referral? Molecular Cytogenetics ·Angelique J. A. Kooper,J.J.P.M. Pieters,Brigitte H. W. Faas,Lies H. Hoefsloot,Ineke van der Burgt,H.A. Zondervan,Arie P.T. Smits	2012	2
14	De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome The American Journal of Human Genetics ·Michael A. Simpson,Charu Deshpande,Dimitra Dafou,Lisenka E.L.M. Vissers,Wesley J. Woollard,Susan Holder,Gabriele Gillessen‐Kaesbach,Ronny Derks,Susan M. White,Ruthy Cohen‐Snuijf,Sarina G. Kant,Lies H. Hoefsloot,William Reardon,Han G. Brunner,Ernie M.H.F. Bongers,Richard C. Trembath	2012	72
15	Phenotypes of Two Dutch DFNA3 Families with Mutations in GJB2 Annals of Otology Rhinology & Laryngology ·N.J.D. Weegerink,Ronald J. E. Pennings,P.L.M. Huygen,Lies H. Hoefsloot,W. R. J. Cremers,Henricus P. M. Kunst	2011	10
16	Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment The American Journal of Human Genetics ·Margit Schraders,Kwanghyuk Lee,Jaap Oostrik,P.L.M. Huygen,Ghazanfar Ali,Lies H. Hoefsloot,Joris A. Veltman,Frans P.M. Cremers,Sulman Basit,Muhammad Ansar,Cor W. R. J. Cremers,Henricus P. M. Kunst,Wasim Ahmad,R.J.C. Admiraal,Suzanne M. Leal,Hannie Kremer	2010	50
17	CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome Human Molecular Genetics ·Batsukh Tserendulam,Lindsey M. Pieper,ANNA M. KOSZUCKA,Nina von Velsen,Sigrid Hoyer‐Fender,Miriam Elbracht,Jorieke E. H. Bergman,Lies H. Hoefsloot,Silke Pauli	2010	57
18	Mutations in the Human TBX4 Gene Cause Small Patella Syndrome The American Journal of Human Genetics ·Ernie M.H.F. Bongers,Pascal H. G. Duijf,Sylvia E. C. van Beersum,Jeroen Schoots,Albert van Kampen,A Burckhardt,Ben C.J. Hamel,F Losan,Lies H. Hoefsloot,Helger G. Yntema,Nine V.A.M. Knoers,Hans van Bokhoven	2004	113
19	Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint Journal of Neurology ·Barbara M. van der Sluijs,Lies H. Hoefsloot,George W. Padberg,Silvère M. van der Maarel,Baziel G.M. van Engelen	2003	31
20	[From gene to disease: from the ABCA4 gene to Stargardt disease, cone-rod dystrophy and retinitis pigmentosa]. PubMed ·Frans P.M. Cremers,Alessandra Maugeri,B. Jeroen Klevering,Lies H. Hoefsloot,C.B. Hoyng	2002	3

About Lies H. Hoefsloot

Lies H. Hoefsloot is a scholar working on Sensory Systems, Genetics and Ophthalmology, having authored 136 papers that have together received 6.6k indexed citations. Recurring topics across this work include Hearing, Cochlea, Tinnitus, Genetics (31 papers), Tracheal and airway disorders (22 papers), Congenital Ear and Nasal Anomalies (21 papers), Retinal Development and Disorders (12 papers), Retinal Diseases and Treatments (11 papers), Vestibular and auditory disorders (11 papers), Prenatal Screening and Diagnostics (10 papers) and Congenital heart defects research (10 papers). The work is most often cited by research in Sensory Systems (909 citations), Genetics (1.1k citations) and Genetics (1.7k citations). Lies H. Hoefsloot has collaborated with scholars based in Netherlands, Germany and United States. Frequent co-authors include Frans P.M. Cremers, Hannie Kremer, Cor W. R. J. Cremers, Jorieke E. H. Bergman, Conny M.A. van Ravenswaaij‐Arts, Ivo P. Touw, Bob Löwenberg, Csilla Krausz, Manuela Simoni and Frank Tüttelmann. Their work appears in journals such as Proceedings of the National Academy of Sciences, Nucleic Acids Research and Nature Genetics.

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