L. Hoefsloot

发表

The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.

C. Cremers, R. Roepman, U. Wolfrum, 2006, Human molecular genetics.

Social and medical need for whole genome high resolution NIPT

L. Hoefsloot, M. Knapen, L. V. van Zutven, 2019, Molecular genetics & genomic medicine.

Next-generation genetic testing for retinitis pigmentosa

Christian Gilissen, Alexander Hoischen, Michael F. Buckley, 2012, Human mutation.

Chromosomal region 11p15 is associated with male factor subfertility.

L. Hoefsloot, J. Kremer, M. Tanck, 2003, Molecular human reproduction.

Clinical phenotype in genetically confirmed von Willebrand disease type 2N patients reflects a haemophilia A phenotype

L. Hoefsloot, A. Simons, W. Heerde, 2015, Haemophilia : the official journal of the World Federation of Hemophilia.

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

M. Huynen, A. Beynon, P. Lichtner, 2018, Human Genetics.

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.

A. Beynon, T. Strom, H. Kremer, 2012, American journal of human genetics.

Genotype phenotype correlations for hearing impairment: Approaches to management

H. Kremer, L. Hoefsloot, I. Feenstra, 2014, Clinical genetics.

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

H. Kremer, L. Hoefsloot, R. Pennings, 2014, European Journal of Human Genetics.

A Post‐Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

Christian Gilissen, Ilse Feenstra, Nienke Wieskamp, 2013, Human mutation.

Early-onset stargardt disease: phenotypic and genotypic characteristics.

B. J. Klevering, F. Cremers, L. Hoefsloot, 2015, Ophthalmology.

Audiologic Performance and Benefit of Cochlear Implantation in Usher Syndrome Type I

A. Snik, C. Cremers, L. Hoefsloot, 2006, The Laryngoscope.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

A. Hoischen, B. D. de Vries, L. S. Lucas, 2013, Orphanet Journal of Rare Diseases.

Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome.

L. Hoefsloot, D. Smeets, R. Netea-Maier, 2013, European journal of medical genetics.

Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations

C. Cremers, T. Strom, H. Kremer, 2011, Journal of the Association for Research in Otolaryngology.

Mutations in CHD7 in patients with CHARGE syndrome cause T–B + natural killer cell + severe combined immune deficiency and may cause Omenn‐like syndrome

A. Gennery, L. Hoefsloot, J. Goodship, 2008, Clinical and experimental immunology.

Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.

F. Cremers, L. Hoefsloot, H. Scheffer, 2009, Investigative ophthalmology & visual science.

Clinical and genetic characteristics of late-onset Stargardt's disease.

A. D. den Hollander, F. Cremers, L. Hoefsloot, 2012, Ophthalmology.

Heterozygous Deep‐Intronic Variants and Deletions in ABCA4 in Persons with Retinal Dystrophies and One Exonic ABCA4 Variant

B. J. Klevering, C. Klaver, A. D. den Hollander, 2015, Human mutation.

Phenotypes of Two Dutch DFNA3 Families with Mutations in GJB2

L. Hoefsloot, R. Pennings, N. Weegerink, 2011, The Annals of otology, rhinology, and laryngology.

Head trauma as eliciting event in transient deterioration of sensorineural hearing loss and vertigo in Pendred/EVA syndrome

C. Cremers, L. Hoefsloot, R. Pennings, 2008 .

Molecular diagnosis of hereditary hearing impairment.

H. Kremer, L. Hoefsloot, 2002, Advances in oto-rhino-laryngology.

Two siblings with progressive, fluctuating hearing loss after head trauma, treated with cochlear implantation

C. Cremers, L. Hoefsloot, E. Mylanus, 2009, The Journal of Laryngology & Otology.

TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

E. Bongers, L. Hoefsloot, R. Hofstra, 2013, Journal of Medical Genetics.

Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan

A. D. den Hollander, F. Cremers, L. Hoefsloot, 2013, Clinical genetics.

RNA-sequencing improves diagnosis for neurodevelopmental disorders by identifying pathogenic non-coding variants and reinterpretation of coding variants

L. Hoefsloot, G. Geeven, G. Mancini, 2022, medRxiv.

Hearing loss and connexin 26.

C. Cremers, L. Hoefsloot, M. Kemperman, 2002, Journal of the Royal Society of Medicine.

Two sibs with Bardet–Biedl syndrome due to mutations in BBS12: No clues for modulation by a third mutation in BBS10

L. Hoefsloot, A. V. van Essen, C. Mom, 2010, American journal of medical genetics. Part A.

Bannayan–Riley–Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases

L. Hoefsloot, M. Breuning, S. Kant, 2004, Familial Cancer.

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

J. Al-Aama, J. Opitz, W. Reardon, 2012, European Journal of Human Genetics.

Outcome of ABCA4 microarray screening in routine clinical practice

B. J. Klevering, L. Hoefsloot, C. Hoyng, 2009, Molecular vision.

Outcome of ABCA 4 microarray screening in routine clinical practice

B. J. Klevering, L. Hoefsloot, C. Hoyng, 2019 .

Holoprosencephaly, orofacial cleft, and frontonaso‐orbital encephaloceles: Genetic evaluation of a possible new syndrome

L. Hoefsloot, Siulan Vendramini-Pittoli, R. M. Candido-Souza, 2019, American journal of medical genetics. Part A.

Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.

C. Cremers, T. Strom, E. van Wijk, 2010, American journal of human genetics.

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.

L. Hoefsloot, Anna M Koszucka, M. Elbracht, 2010, Human molecular genetics.

Congenital T cell deficiency in a patient with CHARGE syndrome.

L. Hoefsloot, J. Hoover-Fong, J. Winkelstein, 2009, The Journal of pediatrics.

Osteoporotic vertebral fractures during pregnancy: be aware of a potential underlying genetic cause.

C. Klaver, L. Hoefsloot, M. Zillikens, 2014, The Journal of clinical endocrinology and metabolism.

TBX 4 mutations ( small patella syndrome ) are associated with childhood-onset pulmonary arterial hypertension

E. Bongers, L. Hoefsloot, R. Hofstra, 2013 .

Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB

L. Hoefsloot, N. van Vlies, A. T. van der Ploeg, 2016, Journal of Inherited Metabolic Disease.

New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis.

L. Hoefsloot, J. Wetzels, N. Knoers, 2013, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

A. Hoischen, E. Bongers, H. Brunner, 2013, European Journal of Human Genetics.

Clinical utility gene card for: CHARGE syndrome - update 2015

L. Hoefsloot, A. Verloes, K. Blake, 2015, European Journal of Human Genetics.

CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects

L. Hoefsloot, C. V. van Ravenswaaij-Arts, G. J. du Marchie Sarvaas, 2014, American journal of medical genetics. Part A.

Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes

R. Pfundt, M. Fichera, C. Romano, 2014, American journal of medical genetics. Part A.

Clinical utility gene card for: CHARGE syndrome

L. Hoefsloot, A. Verloes, K. Blake, 2011, European Journal of Human Genetics.

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome

N. de Leeuw, B. Gener, L. Hoefsloot, 2009, American journal of medical genetics. Part A.

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome.

L. Hoefsloot, C. V. van Ravenswaaij-Arts, M. Jongmans, 2008, European journal of medical genetics.

Limb anomalies in patients with CHARGE syndrome: An expansion of the phenotype

K. Devriendt, L. Hoefsloot, I. M. van de Laar, 2007, American journal of medical genetics. Part A.

Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene

L. Hoefsloot, B. V. van Engelen, B. M. van der Sluijs, 2003, Human mutation.

Whole exome sequencing of known eye genes reveals genetic causes for high myopia

C. Klaver, J. Polling, L. Hoefsloot, 2022, Human molecular genetics.

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

C. Cremers, T. Strom, A. D. den Hollander, 2007, Human mutation.

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome

R. Pfundt, L. Hoefsloot, N. Knoers, 2011, European Journal of Human Genetics.

Proximal Symphalangism, Hyperopia, Conductive Hearing Impairment, and the NOG Gene: 2 New Mutations

C. Cremers, L. Hoefsloot, H. Kunst, 2011, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Audioprofile-Directed Successful Mutation Analysis in a DFNA2/KCNQ4 (p.Leu274His) Family

L. Hoefsloot, P. Huygen, M. Schraders, 2011, The Annals of otology, rhinology, and laryngology.

Is it feasible to select fetuses for prenatal WES based on the prenatal phenotype?

L. Hoefsloot, M. Knapen, R. Galjaard, 2019, Prenatal diagnosis.

The phenotype of floating-harbor syndrome

A. Hoischen, L. S. Lucas, J. Allanson, 2016 .

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

L. Hoefsloot, J. Saris, D. Halley, 2019, European Journal of Human Genetics.

Primary structure and processing of lysosomal alpha‐glucosidase; homology with the intestinal sucrase‐isomaltase complex.

L. Hoefsloot, B. Oostra, A. Reuser, 1988, The EMBO journal.

Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum

L. Hoefsloot, B. Kremer, C. D. de Die-Smulders, 2006, American journal of medical genetics. Part A.

AdultandInfantile Glycogenosis Type11inOneFamily, Explained byAllelic Diversity

L. Hoefsloot, B. Oostra, M. Kroos, 1990 .

Glycogenosis type II: protein and DNA analysis in five South African families from various ethnic origins.

L. Hoefsloot, A. Reuser, A. T. van der Ploeg, 1989, American journal of human genetics.

Mutations in the human TBX4 gene cause small patella syndrome.

E. Bongers, L. Hoefsloot, A. van Kampen, 2004, American journal of human genetics.

Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

L. Hoefsloot, A. Smits, A. Kooper, 2012, Molecular Cytogenetics.

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.

J. Lupski, D. Muzny, S. Jhangiani, 2015, American journal of human genetics.

Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding

C. Cremers, G. Vriend, H. Kremer, 2008, Human mutation.

Phenotype Description of a Novel DFNA9/COCH Mutation, I109T

J. Cruysberg, H. Kremer, L. Hoefsloot, 2007, The Annals of otology, rhinology, and laryngology.

Clinical Characteristics of a Dutch DFNA9 Family with a Novel COCH Mutation, G87W

C. Cremers, H. Kremer, L. Hoefsloot, 2006, Audiology and Neurotology.

Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9)

C. Cremers, H. Kremer, L. Hoefsloot, 2006, American journal of medical genetics. Part A.

Development of a genotyping microarray for Usher syndrome

C. Cremers, M. Bitner-Glindzicz, E. van Wijk, 2006, Journal of Medical Genetics.

Simultaneous Multigene Mutation Detection in Patients With Sensorineural Hearing Loss Through a Novel Diagnostic Microarray: A New Approach for Newborn Screening Follow-up

Andres Metspalu, Phyllis Gardner, Iris Schrijver, 2006, Pediatrics.

Teunissen-Cremers Syndrome: A Clinical, Surgical, and Genetic Report

C. Cremers, A. Kuijpers-Jagtman, J. Cruysberg, 2005, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Novel PTEN mutations in patients with Cowden disease: absence of clear genotype–phenotype correlations

C. Woods, M. Nelen, H. Kremer, 1999, European Journal of Human Genetics.

Microdeletions of the Y chromosome and intracytoplasmic sperm injection: from gene to clinic.

L. Hoefsloot, D. Smeets, J. Kremer, 1997, Human reproduction.

Physiology: DAZLA: An Important Candidate Gene in Male Subfertility?

L. Hoefsloot, J. Kremer, D. Braat, 2001, Journal of Assisted Reproduction and Genetics.

Does intracytoplasmic sperm injection lead to a rise in the frequency of microdeletions in the AZFc region of the Y chromosome in future generations?

H. Brunner, L. Hoefsloot, J. Kremer, 1998, Human reproduction.

Screening male intracytoplasmic sperm injection candidates for mutations of the follicle stimulating hormone receptor gene.

H. Brunner, L. Hoefsloot, M. Ligtenberg, 1998, Human reproduction.

Adult and infantile glycogenosis type II in one family, explained by allelic diversity.

L. Hoefsloot, B. Oostra, A. Reuser, 1990, American journal of human genetics.

Mucolipidosis type III, a series of adult patients

L. Hoefsloot, M. Langeveld, C. Hollak, 2018, Journal of Inherited Metabolic Disease.

CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.

L. Hoefsloot, E. Sistermans, B. Otten, 2003, The Journal of clinical endocrinology and metabolism.

Next Generation Genetic Testing for Retinitis Pigmentosa

B. J. Klevering, A. Hoischen, J. Veltman, 2013 .

Mutation update on the CHD7 gene involved in CHARGE syndrome

M. Swertz, L. Hoefsloot, R. Hofstra, 2012, Human mutation.

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

Bba, L. Vissers, B. D. de Vries, 2005, Journal of Medical Genetics.

PTEN mutation in a family with Cowden syndrome and autism.

L. Hoefsloot, J. Fryns, A. Swillen, 2001, American journal of medical genetics.

L1 retrotransposition can occur early in human embryonic development.

P. D. de Jong, F. Cremers, L. Hoefsloot, 2007, Human molecular genetics.

GJB2 mutations and degree of hearing loss: a multicenter study.

Mustafa Tekin, Umberto Ambrosetti, Nikolaus Blin, 2005, American journal of human genetics.

Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2)

A. Snik, R. Leuwer, L. Hoefsloot, 2012, Hearing Research.

Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome

Nine V.A.M. Knoers, Pierre Sarda, Jumana Y. Al-Aama, 2011, Nature Genetics.

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

R. Hofstra, L. Hoefsloot, R. Hofstra, 2011, Journal of Medical Genetics.

SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.

C. Cremers, P. de Knijff, P. Devilee, 2010, The Lancet. Oncology.

Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?

L. Hoefsloot, J. Saris, D. Papatsonis, 2018, Prenatal diagnosis.

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.

L. Vissers, W. Reardon, E. Bongers, 2012, American journal of human genetics.

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome

L. Hoefsloot, R. Hofstra, C. V. van Ravenswaaij-Arts, 2012, Human mutation.

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

C. Cremers, F. Kersten, E. van Wijk, 2010, Molecular vision.

Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon

H. Brunner, E. Zrenner, F. Cremers, 2003, Human Genetics.

Characterization of the human lysosomal alpha-glucosidase gene.

L. Hoefsloot, B. Oostra, A. Reuser, 1990, The Biochemical journal.

High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing

L. Hoefsloot, E. Korpershoek, J. Saris, 2022, Human mutation.

The Cardiac Phenotype in Patients With a CHD7 Mutation

K. Heimdal, R. Hennekam, L. Hoefsloot, 2013, Circulation. Cardiovascular genetics.

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

L. Hoefsloot, D. Wieczorek, A. Haeringen, 2011, Nature Genetics.

Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability

H. Brunner, L. Hoefsloot, A. Magee, 2008, American journal of medical genetics. Part A.

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

R. Pfundt, J. Hehir-Kwa, M. Nelen, 2016, European Journal of Human Genetics.

UvA-DARE ( Digital Academic Repository ) Spermatogenic failure . A genetic

L. Hoefsloot, J. Kremer, M. Alders, 2007 .

More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated

E. Zackai, L. Hoefsloot, B. Emanuel, 2013, Molecular Syndromology.

Molecular Genetics of CHARGE Syndrome

L. Hoefsloot, C. Ravenswaaij-Arts, 2012 .

Molecular studies of the CHD7 gene: an obligatory diagnostic step in an expanding range of clinical phenotypes

L. Hoefsloot, N. Corsten-Janssen, C. Ravenswaaij-Arts, 2012, Expert review of molecular diagnostics.

Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome.

L. Hoefsloot, L. Meiners, C. V. van Ravenswaaij-Arts, 2011, The Journal of pediatrics.

Genotype–Phenotype Relationship in Inherited Disorders of Hearing Impairment

L. Hoefsloot, A. Roux, 2017 .

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.

S. Haas, H. Kremer, L. Hoefsloot, 2011, American journal of human genetics.

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.

A. Hoischen, T. Strom, J. Veltman, 2010, American journal of human genetics.

Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping

T. Strom, A. D. den Hollander, F. Cremers, 2011, Molecular vision.

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

F. Cremers, L. Hoefsloot, H. Venselaar, 2010, Human mutation.

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.

L. Hoefsloot, G. Geeven, G. Mancini, 2023, American journal of human genetics.

Retina Foveal Sparing in Stargardt Disease

B. J. Klevering, F. Cremers, L. Hoefsloot, 2017 .

Foveal sparing in Stargardt disease.

B. J. Klevering, F. Cremers, L. Hoefsloot, 2014, Investigative ophthalmology & visual science.

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

B. J. Klevering, Silvio Alessandro Di Gioia, C. Rivolta, 2014, Ophthalmology.

The Immune Phenotype of Patients with CHARGE Syndrome.

L. Hoefsloot, T. Rinne, Meredith Wilson, 2016, The journal of allergy and clinical immunology. In practice.

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

L. Hoefsloot, J. Saris, A. de Klein, 2020, Molecular therapy. Methods & clinical development.

The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome.

L. Hoefsloot, B. Wolffenbuttel, C. V. van Ravenswaaij-Arts, 2012, The Journal of clinical endocrinology and metabolism.

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

J. van Reeuwijk, L. Hoefsloot, H. van Bokhoven, 2010, Brain : a journal of neurology.

Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients

E. Haan, D. David, I. Glass, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint

L. Hoefsloot, B. Engelen, G. Padberg, 2003, Journal of Neurology.

Expression and routeing of human lysosomal alpha-glucosidase in transiently transfected mammalian cells.

L. Hoefsloot, B. Oostra, A. Reuser, 1990, The Biochemical journal.

SDHAF2 (PGL2-SDH5) and Hereditary Head and Neck Paraganglioma

C. Cremers, H. Kremer, L. Hoefsloot, 2011, Clinical Cancer Research.

Audiometric characteristics of a Dutch family with Muckle-Wells syndrome

A. Snik, H. Kremer, L. Hoefsloot, 2011, Hearing Research.

Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

J. Al-Aama, J. Opitz, W. Reardon, 2012, American journal of medical genetics. Part A.

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.

C. Cremers, E. van Wijk, H. Kremer, 2004, American journal of human genetics.

Prenatal ultrasound finding of atypical genitalia: Counseling, genetic testing and outcomes

L. Hoefsloot, M. Knapen, M. Srebniak, 2022, Prenatal diagnosis.

Clinical Report on the L95P Mutation in a Dutch Family with Paraganglioma

H. Kremer, L. Hoefsloot, F. Joosten, 2002, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

R. Pfundt, J. Hehir-Kwa, C. Klaver, 2017, European Journal of Human Genetics.

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.

S. Leal, C. Cremers, J. Veltman, 2010, American journal of human genetics.

A novel DFNB1 deletion allele supports the existence of a distant cis‐regulatory region that controls GJB2 and GJB6 expression

A. Pandya, H. Kremer, L. Hoefsloot, 2010, Clinical genetics.

A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family.

L. Hoefsloot, Z. Iqbal, H. van Bokhoven, 2013, Gene.

The DFNB 31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH 2 A and VLGR 1

C. Cremers, R. Roepman, U. Wolfrum, 2006 .

Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

J. Cruysberg, E. Bongers, L. Hoefsloot, 2005, European Journal of Human Genetics.

Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man

E. Bongers, L. Hoefsloot, N. Knoers, 2008, European Journal of Human Genetics.

TRPC6 Single Nucleotide Polymorphisms and Progression of Idiopathic Membranous Nephropathy

L. Hoefsloot, J. Wetzels, M. Coenen, 2014, PloS one.

University of Groningen TRPC6 single nucleotide polymorphisms and progression of idiopathic membranous nephropathy

L. Hoefsloot, J. Wetzels, M. Coenen, 2014 .

Clinical evaluation of 3 families with basal laminar drusen caused by novel mutations in the complement factor H gene.

Jeroen B. Klevering, A. D. den Hollander, L. Hoefsloot, 2012, Archives of ophthalmology.

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice

B. J. Klevering, C. Klaver, L. Hoefsloot, 2015, Molecular Vision.

Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.

F. Gabreëls, L. Hoefsloot, B. Engelen, 2000, Brain : a journal of neurology.

Histology and synchrotron radiation‐based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome

Rudolf Glueckert, Anneliese Schrott-Fischer, Felix Beckmann, 2010, American journal of medical genetics. Part A.

Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene

C. Klaver, J. Polling, L. Hoefsloot, 2022, Human mutation.

Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.

A. D. den Hollander, F. Cremers, L. Hoefsloot, 2013, Ophthalmology.

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

A. Pagnamenta, L. Hoefsloot, S. Arold, 2023, Acta Neuropathologica.

Longitudinal Phenotypic Analysis in Patients with Connexin 26 (GJB2) (DFNB1) and Connexin 30 (GJB6) Mutations

C. Cremers, E. van Wijk, H. Kremer, 2004, The Annals of otology, rhinology, and laryngology.

Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype

L. Hoefsloot, D. Papatsonis, M. Srebniak, 2019, Prenatal diagnosis.

Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast

L. Hoefsloot, F. Jehee, M. Knapen, 2020, Prenatal diagnosis.

The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies

L. Hoefsloot, G. Mancini, M. Wilke, 2020, Acta obstetricia et gynecologica Scandinavica.

Hearing Loss and Connexin 26

C. Cremers, L. Hoefsloot, M. Kemperman, 2002 .

USH2A Mutation analysis in 70 Dutch families with Usher syndrome type II

C. Cremers, A. Deutman, H. Kremer, 2004, Human mutation.

Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations.

C. Cremers, H. Kremer, L. Hoefsloot, 2005, International journal of pediatric otorhinolaryngology.

Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing

C. Klaver, L. Hoefsloot, C. Gilissen, 2023, Ophthalmology science.

EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus

M. Bitner-Glindzicz, L. Hoefsloot, A. Roux, 2013, European Journal of Human Genetics.

Kallmann syndrome and paranoid schizophrenia: a rare combination

W. Verhoeven, L. Hoefsloot, J. Egger, 2013, BMJ Case Reports.

Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration

A. D. den Hollander, L. Hoefsloot, C. Hoyng, 2015, Molecular vision.

Mutations in the lipoma HMGIC fusion partner‐like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss

C. Cremers, T. Strom, A. D. den Hollander, 2006, Human mutation.

Chromosomal mosaicism in human blastocysts: a cytogenetic comparison of trophectoderm and inner cell mass after next-generation sequencing.

L. Hoefsloot, Myrthe van den Born, R. van Marion, 2022, Reproductive Biomedicine Online.

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

C. Cremers, A. Deutman, H. Kremer, 2003, Human Genetics.

Efficacy of COX-2 inhibitors in a case of congenital nephrogenic diabetes insipidus

L. Hoefsloot, A. Soylu, S. Kavukçu, 2005, Pediatric Nephrology.

Title The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Permalink

A. Hoischen, L. S. Lucas, E. Bongers, 2013 .

Distinct cytoplasmic regions of the human granulocyte colony-stimulating factor receptor involved in induction of proliferation and maturation

L. Hoefsloot, F. Dong, B. Löwenberg, 1993, Molecular and cellular biology.

Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia.

A. Veerman, L. Hoefsloot, F. Dong, 1994, Proceedings of the National Academy of Sciences of the United States of America.

CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome

L. Hoefsloot, W. Crowley, T. Ogata, 2009, Clinical genetics.

Erythropoietin-induced activation of STAT5 is impaired in the myelodysplastic syndrome.

L. Hoefsloot, B. Löwenberg, I. Touw, 1997, Blood.

Audiometric Characteristics of a Dutch Family with a New Mutation in GATA3 Causing HDR Syndrome

A. Snik, L. Hoefsloot, R. Pennings, 2014, Audiology and Neurotology.

The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis.

L. Hoefsloot, Myrthe van den Born, K. Stuurman, 2023, European journal of medical genetics.

Erythropoiesis in myelodysplastic syndrome: expression of receptors for erythropoietin and kit ligand.

L. Hoefsloot, B. Löwenberg, B. Backx, 1996, Leukemia.

The membrane-distal cytoplasmic region of human granulocyte colony-stimulating factor receptor is required for STAT3 but not STAT1 homodimer formation.

L. Hoefsloot, F. Dong, B. Löwenberg, 1996, Blood.

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

F. Cremers, L. Hoefsloot, H. Venselaar, 2010, Human mutation.

An Xbal restriction site polymorphism in the acid α-glucosidase gene (GAA)

L. Hoefsloot, A. Reuser, M. Hoogeveen‐Westerveld, 1991 .

Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis

L. Hoefsloot, S. Shanley, M. Breuning, 2011, Clinical genetics.

Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration

A. D. den Hollander, L. Hoefsloot, C. Hoyng, 2015, Molecular vision.