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H. Verdin · SciRah

Researcher profile · Semantic Scholar

H. Verdin

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H. Verdin — researcher profile on SciRah

h-index: 19
Works: 65
Citations: 1,086

Most-cited papers

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer
Kezhi Yan, J. Rousseau, K. Machol, L. Cross +28 more
2020Science Advances102 citations Open access
Semantic Scholar
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
Meriel E. Mcentagart, K. Williamson, Jacqueline K. Rainger, Ann Wheeler +33 more
2016American Journal of Human Genetics96 citations Open access
Semantic Scholar
Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain
H. Verdin, B. D'Haene, D. Beysen, Y. Novikova +7 more
2013PLoS Genetics87 citations Open access
Semantic Scholar
Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy
F. Coppieters, K. Van Schil, M. Bauwens, H. Verdin +11 more
2014Genetics in Medicine69 citations Open access
Semantic Scholar
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and non-coding copy number variations
K. Van Schil, S. Naessens, S. Van de Sompele, M. Carron +16 more
2017Genetics in Medicine66 citations Open access
Semantic Scholar
FOXL2 Impairment in Human Disease
H. Verdin, E. De Baere
2012Hormone Research in Paediatrics51 citations
Semantic Scholar
Update on the genetics of differences of sex development (DSD).
D. Baetens, H. Verdin, E. De Baere, M. Cools
2019Best practice & research. Clinical endocrinology & metabolism50 citations Open access
Semantic Scholar
A variety of Alu-mediated copy number variations can underlie IL-12Rβ1 deficiency
J. Rosain, Carmen Oleaga-Quintas, C. Deswarte, H. Verdin +35 more
2018Journal of Clinical Immunology48 citations Open access
Semantic Scholar
Non‐coding variation in disorders of sex development
D. Baetens, B. Mendonça, H. Verdin, M. Cools +1 more
2017Clinical Genetics44 citations Open access
Semantic Scholar
Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion
K. Van Schil, F. Meire, M. Karlstetter, M. Bauwens +7 more
2014Genetics in Medicine43 citations Open access
Semantic Scholar
Hidden Genetic Variation in LCA9‐Associated Congenital Blindness Explained by 5′UTR Mutations and Copy‐Number Variations of NMNAT1
F. Coppieters, Anne-Laure Todeschini, T. Fujimaki, Annelot Baert +11 more
2015Human Mutation38 citations Open access
Semantic Scholar
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56
B. Almoallem, G. Arno, J. de Zaeytijd, H. Verdin +13 more
2020Scientific Reports35 citations Open access
Semantic Scholar
Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development
D. Baetens, T. Güran, B. Mendonca, N. Gomes +16 more
2017Genetics in Medicine32 citations Open access
Semantic Scholar
Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics
H. Verdin, Elena A. Sorokina, F. Meire, I. Casteels +3 more
2014Orphanet Journal of Rare Diseases30 citations Open access
Semantic Scholar
Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
N. Schuermans, D. Hemelsoet, W. Terryn, S. Steyaert +21 more
2022Orphanet Journal of Rare Diseases29 citations Open access
Semantic Scholar
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.
B. Almoallem, M. Bauwens, S. Walraedt, P. Delbeke +13 more
2015Investigative Ophthalmology and Visual Science29 citations Open access
Semantic Scholar
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
B. Yaldiz, Erdi Kucuk, J. Hampstead, T. Hofste +296 more
2023Human Genomics24 citations Open access
Semantic Scholar
Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape
H. Verdin, A. Fernández-Miñán, S. Benito-Sanz, S. Janssens +8 more
2015Scientific Reports22 citations Open access
Semantic Scholar
Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II
A. Haghighi, H. Verdin, H. Haghighi-Kakhki, N. Piri +2 more
2012Molecular Vision19 citations
Semantic Scholar
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
S. Van de Sompele, Claire E. L. Smith, M. Karali, M. Cortón +23 more
2018Genetics in Medicine18 citations Open access
Semantic Scholar
Submicroscopic deletions at 13q32.1 cause congenital microcoria.
L. Fares-Taie, S. Gerber, A. Tawara, A. Ramirez-Miranda +25 more
2015American Journal of Human Genetics18 citations Open access
Semantic Scholar
Endocrine outcome and seminal parameters in young adult men born with hypospadias: A cross-sectional cohort study
L. Tack, A. Spinoit, P. Hoebeke, S. Riedl +13 more
2022EBioMedicine16 citations Open access
Semantic Scholar
Structural and numerical changes of chromosome X in patients with esophageal atresia
E. Brosens, Elisabeth M. de Jong, T. S. Barakat, B. Eussen +9 more
2014European Journal of Human Genetics16 citations Open access
Semantic Scholar
Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders
N. Schuermans, H. Verdin, Jody Ghijsels, Madeleine Hellemans +16 more
2023Neurology: Genetics14 citations Open access
Semantic Scholar
Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH
Tom Van Hoorde, F. Nerinckx, E. Kreps, D. Roels +6 more
2021Ophthalmic Genetics13 citations Open access
Semantic Scholar
Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay.
Stacy Zahanova, B. Meaney, Beata Łabieniec, H. Verdin +2 more
2012Clinical Dysmorphology13 citations
Semantic Scholar
Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism.
Elise Pozza, H. Verdin, H. Deconinck, A. Dheedene +3 more
2020European Journal of Medical Genetics11 citations Open access
Semantic Scholar
The Role of MCM9 in the Etiology of Sertoli Cell-Only Syndrome and Premature Ovarian Insufficiency
I. Potorac, M. Laterre, O. Malaise, V. Nechifor +10 more
2023Journal of Clinical Medicine8 citations Open access
Semantic Scholar
Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).
R. Gulati, H. Verdin, Dhanapathi Halanaik, B. V. Bhat +1 more
2014European Journal of Medical Genetics8 citations
Semantic Scholar
Blepharophimosis, Ptosis, and Epicanthus Inversus
H. Verdin, E. De Baere
20156 citations
Semantic Scholar
Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis.
H. Syryn, J. Van De Velde, Griet De Clercq, H. Verdin +7 more
2024Human Reproduction5 citations
Semantic Scholar
Accepting or declining preconception expanded carrier screening: An exploratory study with 407 couples
A. Van Tongerloo, H. Verdin, W. Steyaert, P. Coucke +1 more
2024Journal of Genetic Counseling5 citations
Semantic Scholar
Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP)
Astrid Van den Broecke, A. Decruyenaere, N. Schuermans, H. Verdin +4 more
2023Journal of Neurology5 citations
Semantic Scholar
Spleen function is reduced in individuals with NR5A1 variants with or without DSD: a cross-sectional study.
M. Cools, Celien Grijp, Jana Neirinck, S. Tavernier +14 more
2023European Journal of Endocrinology5 citations Open access
Semantic Scholar
Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant.
C. Brachet, Alexander Laemmle, M. Cools, Kay Sauter +8 more
2024European Journal of Endocrinology3 citations Open access
Semantic Scholar
Etiology, histology, and long-term outcome of bilateral testicular regression: a large Belgian series
L. Tack, C. Brachet, V. Beauloye, C. Heinrichs +19 more
2023Human Reproduction Open1 citations Open access
Semantic Scholar
Paediatric cataract surgery with 27G vitrectomy instrumentation: the Ghent University Hospital Experience
H. W. Chan, F. Van den Broeck, Axelle Cools, S. Walraedt +8 more
2023Frontiers in Medicine1 citations Open access
Semantic Scholar
Marked hypotonia: An additional feature of ANO3-related movement disorder.
P. Santens, A. Bruggeman, N. Schuermans, H. Verdin +1 more
2022European Journal of Medical Genetics1 citations
Semantic Scholar
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
S. Van de Sompele, Claire E. L. Smith, M. Karali, M. Cortón +23 more
2019Genetics in Medicine1 citations Open access
Semantic Scholar
Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
K. Van Schil, S. Naessens, S. Van de Sompele, M. Carron +16 more
2018Genetics in Medicine1 citations Open access
Semantic Scholar
Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms
K. Van Schil, S. Naessens, S. Van de Sompele, M. Bauwens +6 more
20161 citations
Semantic Scholar
Homozygous deletion of glutamate receptor gene GRID2 causes new hotfoot mutant phenotype, characterized by early-onset cerebellar ataxia and retinal dystrophy
K. Van Schil, M. Karlstetter, F. Meire, M. Bauwens +6 more
20141 citations
Semantic Scholar
Forkhead Transcription Factors in Genetic Disease
D. Baetens, H. Verdin, M. Cools, E. De Baere
20131 citations
Semantic Scholar
Mitotic microhomology-mediated replication-based mechanisms underlie non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain
H. Verdin, B. D'Haene, D. Beysen, Y. Novikova +7 more
20111 citations
Semantic Scholar
Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES
Charlotte Matton, J. Van De Velde, M. De Bruyne, S. Van de Sompele +18 more
2026medRxiv0 citations Open access
Semantic Scholar
Cover Letter Submission: Hypotonia as an Additional Feature in a Complex Movement Disorder Caused by a Novel Mutation in the ANO3 Gene
P. Santens, A. Bruggeman, N. Schuermans, H. Verdin +1 more
2022Social Science Research Network0 citations Open access
Semantic Scholar
Exome-based panel testing as an efficient method to diagnose the highly heterogeneous ocular disorder spectrum Microphthalmia, Anophthalmia, Coloboma and Anterior Segment Dysgenesis (MAC-ASD)
H. Verdin, Toon Rosseel, S. Vermeer, I. Balikova +15 more
20200 citations
Semantic Scholar
Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease
S. Van de Sompele, Claire E. L. Smith, M. Karali, M. Cortón +22 more
20180 citations
Semantic Scholar
Disruption of a remote putative novel enhancer in the cis-regulatory domain of FOXL2 in a multigenerational Polynesian family with BPES
H. Verdin, A. Shelling, A. Vincent, E. Baere
20160 citations
Semantic Scholar
Table 1. [Summary of Molecular Genetic Testing Used in Blepharophimosis, Ptosis, and Epicanthus Inversus].
H. Verdin, E. De Baere
20150 citations
Semantic Scholar

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