K. Stouffs

发表

Is there a role for the nuclear export factor 2 gene in male infertility?

H. Tournaye, W. Lissens, I. Liebaers, 2008, Fertility and sterility.

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

G. Schaaf, Jeroen A. A. Demmers, R. Poot, 2019, Brain : a journal of neurology.

Ethan M. Goldberg, Christopher H. Thompson, C. H. Thompson, 2020, Annals of neurology.

The choice and outcome of the fertility treatment of 38 couples in whom the male partner has a Yq microdeletion

H. Tournaye, W. Lissens, I. Liebaers, 2005 .

The choice and outcome of the fertility treatment of 38 couples in whom the male partner has a Yq microdeletion.

H. Tournaye, W. Lissens, A. V. Van Steirteghem, 2006, Human reproduction.

Validation of a simple Yq deletion screening programme in an ICSI candidate population.

H. Tournaye, W. Lissens, A. V. Van Steirteghem, 2000, Molecular human reproduction.

Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts

P. Byers, M. Holder-Espinasse, W. Lissens, 2017, Journal of Medical Genetics.

Malformations of cerebral development and clues from the peripheral nervous system: A systematic literature review.

A. Jansen, K. Stouffs, Ellen Rijckmans, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Loss, Gain and Altered Function of GlyR α2 Subunit Mutations in Neurodevelopmental Disorders

J. Lynch, R. Harvey, Xiumin Chen, 2022, Frontiers in Molecular Neuroscience.

International consensus recommendations on the diagnostic work-up for malformations of cortical development

E. Aronica, O. Reiner, L. M. Valor, 2020, Nature Reviews Neurology.

Three Siblings with Progressive Encephalopathy and Destructive White Matter Lesions

S. Seneca, K. Stouffs, A. Gheldof, 2018 .

The role of USP9Y and DBY in infertile patients with severely impaired spermatogenesis.

H. Tournaye, W. Lissens, I. Liebaers, 2001, Molecular human reproduction.

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

R. Redon, J. Rosenfeld, D. Grozeva, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology

I. Krantz, D. Fitzpatrick, S. Banka, 2022, Brain : a journal of neurology.

Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B

D. Baralle, A. Laquérriere, S. Mansour, 2022, Journal of Medical Genetics.

The landscape of epilepsy-related GATOR1 variants

A. Biraben, F. Bartolomei, P. Striano, 2018, Genetics in Medicine.

Differences in maternally inherited and age-related de novo mitochondrial DNA variants between ART and spontaneously conceived individuals associate with low birth weight

S. Seneca, H. Tournaye, K. Sermon, 2022, medRxiv.

SYCP3 mutations are uncommon in patients with azoospermia.

H. Tournaye, W. Lissens, A. V. Van Steirteghem, 2005, Fertility and sterility.

OP10 – 2707: Childhood-onset ataxic gait solved by muscle biopsy

S. Seneca, A. Jansen, K. Stouffs, 2015 .

Genetic causes of spermatogenic failure.

H. Tournaye, W. Lissens, K. Stouffs, 2012, Asian journal of andrology.

Clinical implementation of gene panel testing for lysosomal storage diseases

S. Seneca, P. Verloo, L. de Meirleir, 2018, Molecular genetics & genomic medicine.

Male Infertility: Genetics, Mechanism, and Therapies

C. Coutton, A. Touré, G. Palermo, 2016, BioMed research international.

X chromosomal mutations and spermatogenic failure.

W. Lissens, K. Stouffs, 2012, Biochimica et biophysica acta.

Male infertility and the involvement of the X chromosome.

H. Tournaye, W. Lissens, I. Liebaers, 2009, Human reproduction update.

Ovarian hyperstimulation syndrome after gonadotropin-releasing hormone agonist triggering and “freeze-all”: in-depth analysis of genetic predisposition

S. Seneca, H. Tournaye, K. Stouffs, 2015, Journal of Assisted Reproduction and Genetics.

Array comparative genomic hybridization in male infertility.

B. Menten, H. Tournaye, W. Lissens, 2012, Human reproduction.

A Bumpy Ride on the Diagnostic Bench of Massive Parallel Sequencing, the Case of the Mitochondrial Genome

S. Seneca, L. de Meirleir, W. Lissens, 2014, PloS one.

Characterization of the genomic organization, localization and expression of four PRY genes (PRY1, PRY2, PRY3 and PRY4).

H. Tournaye, W. Lissens, I. Liebaers, 2001, Molecular human reproduction.

Are AZFb deletions always incompatible with sperm production?

S. Seneca, H. Tournaye, K. Stouffs, 2017, Andrology.

What about gr/gr deletions and male infertility? Systematic review and meta-analysis.

H. Tournaye, P. Haentjens, W. Lissens, 2011, Human reproduction update.

Do we need to search for gr/gr deletions in infertile men in a clinical setting?

H. Tournaye, P. Haentjens, W. Lissens, 2008, Human reproduction.

Expression pattern of the Y-linked PRY gene suggests a function in apoptosis but not in spermatogenesis.

H. Tournaye, W. Lissens, A. V. Van Steirteghem, 2004, Molecular human reproduction.

Genetic causes of male infertility.

S. Seneca, W. Lissens, K. Stouffs, 2014, Annales d'endocrinologie.

[Genetics and male infertility].

H. Tournaye, W. Lissens, I. Liebaers, 2009, Verhandelingen - Koninklijke Academie voor Geneeskunde van Belgie.

Sertoli Cell-Only Syndrome: Behind the Genetic Scenes

S. Seneca, H. Tournaye, W. Lissens, 2016, BioMed research international.

Defining the phenotypical spectrum associated with variants in TUBB2A

D. Wieczorek, I. Krägeloh-Mann, G. Mancini, 2020, Journal of Medical Genetics.

The role of the testis-specific gene hTAF7L in the aetiology of male infertility.

H. Tournaye, W. Lissens, I. Liebaers, 2006, Molecular human reproduction.

Convert your favorite protein modeling program into a mutation predictor: “MODICT”

Carla Al Assaf, W. Lissens, A. Jansen, 2014, bioRxiv.

Mutation analysis of three genes in patients with maturation arrest of spermatogenesis and couples with recurrent miscarriages.

H. Tournaye, W. Lissens, I. Liebaers, 2011, Reproductive biomedicine online.

Molecular dissection of structural variations involved in antithrombin deficiency.

W. Ouwehand, J. Hernández-Rivas, J. Corral, 2022, The Journal of molecular diagnostics : JMD.

Phenotype description in KIF5C gene hot-spot mutations responsible for malformations of cortical development (MCD).

K. Stouffs, Y. Sznajer, P. Clapuyt, 2020, European journal of medical genetics.

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1

W. Dobyns, R. Guerrini, A. Jansen, 2018, European Journal of Human Genetics.

I-PV: a CIRCOS module for interactive protein sequence visualization

Ibrahim Tanyalcin, Katrien Stouffs, Carla Al Assaf, 2015, Bioinform..

Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation

S. Seneca, E. Buratti, W. Lissens, 2017, Journal of Molecular Medicine.

Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence

T. Grisar, V. Seutin, B. Lakaye, 2021, Molecular genetics & genomic medicine.

Possible role of USP26 in patients with severely impaired spermatogenesis

H. Tournaye, W. Lissens, I. Liebaers, 2005, European Journal of Human Genetics.

Rare genetic variants potentially involved in ovarian hyperstimulation syndrome

S. Seneca, H. Tournaye, K. Stouffs, 2018, Journal of Assisted Reproduction and Genetics.

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1

W. Dobyns, R. Guerrini, A. Jansen, 2018, European Journal of Human Genetics.

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Katrien Stouffs, Melanie Bahlo, Holger Prokisch, 2016, American journal of human genetics.

Alterations of the USP26 gene in Caucasian men.

H. Tournaye, W. Lissens, A. V. Van Steirteghem, 2006, International journal of andrology.

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder

A. Fortuna, K. Sermon, A. Jansen, 2022, American journal of human genetics.

Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations

P. Lockhart, C. Stutterd, A. Jansen, 2020, Journal of child neurology.

Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly

P. Verloo, B. Ceulemans, D. Beysen, 2020, Frontiers in Genetics.

Polyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene

S. Seneca, B. Velkeniers, J. de Filette, 2016, Neurology: Genetics.

Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?

S. Seneca, L. de Meirleir, W. Lissens, 2014, European Journal of Human Genetics.

Expanding the clinical spectrum of biallelic ZNF335 variants

C. Walsh, S. Seneca, A. Stergachis, 2018, Clinical genetics.

Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.

S. Seneca, L. de Meirleir, A. Jansen, 2018, European journal of medical genetics.

Convert your favorite protein modeling program into a mutation predictor: “MODICT”

Dorien Daneels, Ibrahim Tanyalcin, Katrien Stouffs, 2016, BMC Bioinformatics.

Correction to: The landscape of epilepsy-related GATOR1 variants

Anne de Saint Martin, A. Biraben, F. Bartolomei, 2018, Genetics in Medicine.

Genetic causes of male infertility.

S. Seneca, W. Lissens, K. Stouffs, 2014, Annales d'Endocrinologie.

A new mutation in the calcium-sensing receptor gene causing hypocalcaemia: case report of a father and two sons.

S. Seneca, B. Bravenboer, B. Velkeniers, 2017, The Netherlands journal of medicine.

Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweight

C. Spits, K. Stouffs, C. Blockeel, 2024, Nature communications.

Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing

P. Lockhart, C. Stutterd, M. Delatycki, 2020, Brain communications.

De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features

Denise L. Perry, A. Vanderver, A. Serretti, 2020, Journal of Medical Genetics.

Diagnostic work‐up in malformations of cortical development

K. Stouffs, Ellen Rijckmans, Anna C. Jansen, 2024, Developmental medicine and child neurology.