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K. Stouffs · SciRah

Researcher profile · Semantic Scholar

K. Stouffs

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K. Stouffs — researcher profile on SciRah

h-index: 29
Works: 89
Citations: 2,055

Most-cited papers

The landscape of epilepsy-related GATOR1 variants
S. Baldassari, F. Picard, N. Verbeek, M. van Kempen +84 more
2018Genetics in Medicine214 citations Open access
Semantic Scholar
Genetic causes of spermatogenic failure.
A. Massart, W. Lissens, H. Tournaye, K. Stouffs
2012Asian Journal of Andrology174 citations Open access
Semantic Scholar
International consensus recommendations on the diagnostic work-up for malformations of cortical development
R. Oegema, T. S. Barakat, M. Wilke, K. Stouffs +23 more
2020Nature Reviews Neurology114 citations Open access
Semantic Scholar
Possible role of USP26 in patients with severely impaired spermatogenesis
K. Stouffs, W. Lissens, H. Tournaye, A. van Steirteghem +1 more
2005European Journal of Human Genetics94 citations
Semantic Scholar
What about gr/gr deletions and male infertility? Systematic review and meta-analysis.
K. Stouffs, W. Lissens, H. Tournaye, P. Haentjens
2011Human Reproduction Update89 citations
Semantic Scholar
SCN3A-related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation
Tariq Zaman, K. Helbig, Jérôme Clatot, Christopher H. Thompson +32 more
2020Annals of Neurology70 citations Open access
Semantic Scholar
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype
C. Alston, A. Compton, L. E. Formosa, Valentina Strecker +27 more
2016American Journal of Human Genetics70 citations Open access
Semantic Scholar
Male infertility and the involvement of the X chromosome.
K. Stouffs, H. Tournaye, I. Liebaers, W. Lissens
2009Human Reproduction Update64 citations
Semantic Scholar
Validation of a simple Yq deletion screening programme in an ICSI candidate population.
L. Van Landuyt, W. Lissens, K. Stouffs, H. Tournaye +2 more
2000Molecular human reproduction56 citations Open access
Semantic Scholar
Expression pattern of the Y-linked PRY gene suggests a function in apoptosis but not in spermatogenesis.
K. Stouffs, W. Lissens, G. Verheyen, L. Van Landuyt +4 more
2004Molecular human reproduction52 citations
Semantic Scholar
Array comparative genomic hybridization in male infertility.
K. Stouffs, D. Vandermaelen, A. Massart, Björn Menten +3 more
2012Human Reproduction46 citations
Semantic Scholar
The choice and outcome of the fertility treatment of 38 couples in whom the male partner has a Yq microdeletion.
K. Stouffs, W. Lissens, H. Tournaye, A. van Steirteghem +1 more
2006Human Reproduction42 citations
Semantic Scholar
Alterations of the USP26 gene in Caucasian men.
K. Stouffs, W. Lissens, H. Tournaye, A. van Steirteghem +1 more
2006International Journal of Andrology40 citations
Semantic Scholar
Are AZFb deletions always incompatible with sperm production?
K. Stouffs, V. Vloeberghs, A. Gheldof, H. Tournaye +1 more
2017Andrology39 citations Open access
Semantic Scholar
Male Infertility: Genetics, Mechanism, and Therapies
C. Coutton, R. Fissore, G. Palermo, K. Stouffs +1 more
2016BioMed Research International39 citations Open access
Semantic Scholar
Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1
Stefanie Brock, K. Stouffs, E. Scalais, M. d'Hooghe +5 more
2018European Journal of Human Genetics38 citations Open access
Semantic Scholar
SYCP3 mutations are uncommon in patients with azoospermia.
K. Stouffs, W. Lissens, H. Tournaye, A. van Steirteghem +1 more
2005Fertility and Sterility38 citations
Semantic Scholar
The role of the testis-specific gene hTAF7L in the aetiology of male infertility.
K. Stouffs, A. Willems, Willy Lissens, H. Tournaye +2 more
2006Molecular human reproduction37 citations Open access
Semantic Scholar
Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
S. Seneca, Kim Vancampenhout, R. Van Coster, J. Smet +6 more
2014European Journal of Human Genetics36 citations Open access
Semantic Scholar
Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts
Laura V. Vandervore, K. Stouffs, I. Tanyalcin, T. Vanderhasselt +11 more
2017Journal of Medical Genetics35 citations
Semantic Scholar
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology
S. Banka, Abigail Bennington, Martin J. Baker, Ellen Rijckmans +21 more
2022Brain : a journal of neurology34 citations Open access
Semantic Scholar
Do we need to search for gr/gr deletions in infertile men in a clinical setting?
K. Stouffs, H. Tournaye, J. Van der Elst, P. Haentjens +2 more
2008Human Reproduction33 citations
Semantic Scholar
Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing
C. Stutterd, Stefanie Brock, K. Stouffs, Miriam Fanjul-Fernández +7 more
2020Brain Communications32 citations Open access
Semantic Scholar
Ovarian hyperstimulation syndrome after gonadotropin-releasing hormone agonist triggering and “freeze-all”: in-depth analysis of genetic predisposition
S. Santos-Ribeiro, N. Polyzos, K. Stouffs, M. De Vos +3 more
2015Journal of Assisted Reproduction and Genetics32 citations Open access
Semantic Scholar
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics
Laura V. Vandervore, R. Schot, E. Kasteleijn, R. Oegema +28 more
2019Brain : a journal of neurology31 citations Open access
Semantic Scholar
Sertoli Cell-Only Syndrome: Behind the Genetic Scenes
K. Stouffs, A. Gheldof, H. Tournaye, D. Vandermaelen +3 more
2016BioMed Research International31 citations Open access
Semantic Scholar
The choice and outcome of the fertility treatment of 38 couples in whom the male partner has a Yq microdeletion
K. Stouffs, W. Lissens, H. Tournaye, A. van Steirteghem +1 more
200531 citations Open access
Semantic Scholar
Mutation analysis of three genes in patients with maturation arrest of spermatogenesis and couples with recurrent miscarriages.
K. Stouffs, D. Vandermaelen, H. Tournaye, I. Liebaers +1 more
2011Reproductive Biomedicine Online29 citations Open access
Semantic Scholar
Characterization of the genomic organization, localization and expression of four PRY genes (PRY1, PRY2, PRY3 and PRY4).
K. Stouffs, Willy Lissens, L. Van Landuyt, H. Tournaye +2 more
2001Molecular human reproduction29 citations
Semantic Scholar
X chromosomal mutations and spermatogenic failure.
K. Stouffs, W. Lissens
2012Biochimica et Biophysica Acta28 citations Open access
Semantic Scholar
Defining the phenotypical spectrum associated with variants in TUBB2A
Stefanie Brock, T. Vanderhasselt, Sietske Vermaning, K. Keymolen +21 more
2020Journal of Medical Genetics26 citations Open access
Semantic Scholar
Clinical implementation of gene panel testing for lysosomal storage diseases
A. Gheldof, S. Seneca, K. Stouffs, W. Lissens +8 more
2018Molecular Genetics & Genomic Medicine25 citations Open access
Semantic Scholar
Genetic causes of male infertility.
K. Stouffs, S. Seneca, W. Lissens
2014Annales d'Endocrinologie20 citations
Semantic Scholar
Is there a role for the nuclear export factor 2 gene in male infertility?
K. Stouffs, H. Tournaye, J. Van der Elst, I. Liebaers +1 more
2008Fertility and Sterility20 citations Open access
Semantic Scholar
Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweight
J. Mertens, F. Belva, A. V. van Montfoort, M. Regin +12 more
2024Nature Communications18 citations Open access
Semantic Scholar
Loss, Gain and Altered Function of GlyR α2 Subunit Mutations in Neurodevelopmental Disorders
Xiu-Min Chen, K. Wilson, N. Schaefer, Lachlan de Hayr +8 more
2022Frontiers in Molecular Neuroscience17 citations Open access
Semantic Scholar
Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly
K. Stouffs, P. Verloo, Stefanie Brock, L. Régal +4 more
2020Frontiers in Genetics17 citations Open access
Semantic Scholar
Molecular dissection of structural variations involved in antithrombin deficiency.
B. de la Morena-Barrio, C. Orlando, A. Sanchis-Juan, J. García +15 more
2022Journal of Molecular Diagnostics14 citations Open access
Semantic Scholar
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder
Nuno Maia, Sven Potelle, H. Yıldırım, S. Duvet +21 more
2022American Journal of Human Genetics14 citations Open access
Semantic Scholar
Phenotype description in KIF5C gene hot-spot mutations responsible for malformations of cortical development (MCD).
S. Duquesne, M. Nassogne, P. Clapuyt, K. Stouffs +1 more
2020European Journal of Medical Genetics14 citations Open access
Semantic Scholar
Expanding the clinical spectrum of biallelic ZNF335 variants
K. Stouffs, Andrew B. Stergachis, T. Vanderhasselt, A. Dica +12 more
2018Clinical Genetics14 citations Open access
Semantic Scholar
Rare genetic variants potentially involved in ovarian hyperstimulation syndrome
K. Stouffs, S. Daelemans, S. Santos-Ribeiro, S. Seneca +5 more
2018Journal of Assisted Reproduction and Genetics14 citations Open access
Semantic Scholar
The role of USP9Y and DBY in infertile patients with severely impaired spermatogenesis.
L. Van Landuyt, Willy Lissens, K. Stouffs, H. Tournaye +4 more
2001Molecular human reproduction14 citations Open access
Semantic Scholar
Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.
K. Stouffs, S. Moortgat, T. Vanderhasselt, Laura V. Vandervore +7 more
2018European Journal of Medical Genetics13 citations Open access
Semantic Scholar
A Bumpy Ride on the Diagnostic Bench of Massive Parallel Sequencing, the Case of the Mitochondrial Genome
Kim Vancampenhout, Ben Caljon, C. Spits, K. Stouffs +8 more
2014PLoS ONE13 citations Open access
Semantic Scholar
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B
Stefanie Brock, A. Laquérriere, F. Marguet, S. J. Myers +25 more
2022Journal of Medical Genetics12 citations Open access
Semantic Scholar
Diagnostic work‐up in malformations of cortical development
Ellen Rijckmans, K. Stouffs, Anna C. Jansen
2024Developmental Medicine & Child Neurology9 citations Open access
Semantic Scholar
Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations
Aglaë Blauen, C. Stutterd, K. Stouffs, Dana Dumitriu +5 more
2020Journal of Child Neurology9 citations Open access
Semantic Scholar
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
S. Küry, Jin-Wei Zhang, T. Besnard, A. Caro-Llopis +76 more
2022Genetics in Medicine8 citations Open access
Semantic Scholar
TREX‐1 related Aicardi‐Goutières syndrome improved by Janus kinase inhibitor
Claire Ryckmans, Mylène Donge, Antônia Marchese, Meriem Mastouri +4 more
2023American Journal of Medical Genetics. Part A7 citations
Semantic Scholar

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