List of works by Katrien Stouffs

A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome

scientific article

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

Alterations of the USP26 gene in Caucasian men

article

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

scientific article published on 26 March 2014

Are AZFb deletions always incompatible with sperm production?

scientific article published on 10 April 2017

Array comparative genomic hybridization in male infertility

scientific article

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

scientific article

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

scientific article published on 29 June 2016

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

scientific article published on 05 June 2018

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

scientific article published in July 2001

Clinical implementation of gene panel testing for lysosomal storage diseases.

scientific article published on 11 December 2018

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

scientific article

Correction to: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 July 2019

Correction: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 August 2019

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

scientific article published on 20 August 2020

Defining the phenotypical spectrum associated with variants in TUBB2A

scientific article published on 22 June 2020

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

scientific article published on 12 November 2016

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

article

Expanding the clinical spectrum of biallelic ZNF335 variants.

scientific article published on 13 April 2018

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

scientific article published in January 2004

Genetic causes of male infertility

article

Genetic causes of spermatogenic failure.

scientific article published on 05 December 2011

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

scientific article published on 01 April 2019

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

scientific article

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

scientific article published on 07 September 2020

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

scientific article

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

scientific article published on 29 April 2022

Male Infertility: Genetics, Mechanism, and Therapies

scientific article published on 31 January 2016

Male infertility and the involvement of the X chromosome

scientific article

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

scientific article published on 31 August 2010

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

scientific article

Possible role of USP26 in patients with severely impaired spermatogenesis

scientific article

Rare genetic variants potentially involved in ovarian hyperstimulation syndrome

scientific article published on 27 November 2018

SCN3A-related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation

scientific article published on 08 June 2020

SYCP3 mutations are uncommon in patients with azoospermia.

scientific article

Sertoli Cell-Only Syndrome: Behind the Genetic Scenes. ⬇️

scientific article published on 26 January 2016

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

scientific article published on 24 March 2005

The landscape of epilepsy-related GATOR1 variants

scientific article published on 10 August 2018

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

article

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

scientific article

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

scientific article published on 30 April 2018

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

scientific article published on 01 April 2000

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

scientific article

X chromosomal mutations and spermatogenic failure.

scientific article published on 23 May 2012

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