List of works - Dirk Goossens

A genome-wide search for linkage to allergic rhinitis in Danish sib-pair families.

scientific article

A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder

scientific article

A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus.

scientific article

APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy

scientific article

Chromosome 10q harbors a susceptibility locus for bipolar disorder in Ashkenazi Jewish families

scientific article published on 19 June 2007

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

scientific article published in September 2010

Copy Number Variations in DISC1 and DISC1-Interacting Partners in Major Mental Illness

scientific article published on 7 October 2015

Detailed analysis of the serotonin transporter gene (SLC6A4) shows no association with bipolar disorder in the Northern Swedish population

scientific article published in June 2009

Determination of the genomic organization of human presenilin 1 by fiber-FISH analysis and restriction mapping of cloned DNA.

scientific article published in April 1999

Familial occipitotemporal lobe epilepsy and migraine with visual aura: linkage to chromosome 9q.

scientific article

Gene copy number variation in schizophrenia

article

Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis

scientific journal article

Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation

scientific article published on 05 November 2005

Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia

scientific article published on 13 September 2012

Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders.

scientific article

Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation

scientific article published on 01 September 1999

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

scientific article

Multiplex Amplicon Quantification (MAQ), a fast and efficient method for the simultaneous detection of copy number alterations in neuroblastoma

scientific article

Multiplex amplicon quantification screening the ABCA13 gene for copy number variation in schizophrenia and bipolar disorder.

scientific article published in October 2012

Mutations in SACS cause atypical and late-onset forms of ARSACS.

scientific article published on September 2010

Mutations in SEPT9 cause hereditary neuralgic amyotrophy

scientific article

Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS

No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity

scientific article published on 26 January 2012

No evidence for the involvement of CAG/CTG repeats from within 18q21.33–q23 in bipolar disorder

scientific article published on 01 May 2000

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

scientific article

Performance of multiplicom's BRCA MASTR Dx kit on the detection of BRCA1 and BRCA2 mutations in fresh frozen ovarian and breast tumor samples

scientific article published on 25 October 2016

Progranulin locus deletion in frontotemporal dementia

scientific article published on 01 January 2008

Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?

scientific article published on 22 August 2012

Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population

scientific article published in July 2009

Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease

scientific article

Response of DNA fragments to potentiometric sensors studied using HPLC.

scientific article published in August 2007

Sequencing of DISC1 pathway genes reveals increased burden of rare missense variants in schizophrenia patients from a northern Swedish population.

scientific article

Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR-based GS-FLX sequencing.

scientific article

Strong evidence that GNB1L is associated with schizophrenia

scientific article

Support for NRG1 as a Susceptibility Factor for Schizophrenia in a Northern Swedish Isolated Population

scientific article published on 01 August 2009

TP53 Outperforms Other Androgen Receptor Biomarkers to Predict Abiraterone or Enzalutamide Outcome in Metastatic Castration-Resistant Prostate Cancer

scientific article published on 12 September 2018

The skin microbiome of caspase-14-deficient mice shows mild dysbiosis.

scientific article

Trinucleotide repeat expansions: do they contribute to bipolar disorder? ⬇️

scientific article published on November 1, 2001

List of works by Dirk Goossens

A genome-wide search for linkage to allergic rhinitis in Danish sib-pair families.

A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder

A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus.

APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy

Chromosome 10q harbors a susceptibility locus for bipolar disorder in Ashkenazi Jewish families

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

Copy Number Variations in DISC1 and DISC1-Interacting Partners in Major Mental Illness

Detailed analysis of the serotonin transporter gene (SLC6A4) shows no association with bipolar disorder in the Northern Swedish population

Determination of the genomic organization of human presenilin 1 by fiber-FISH analysis and restriction mapping of cloned DNA.

Familial occipitotemporal lobe epilepsy and migraine with visual aura: linkage to chromosome 9q.

Gene copy number variation in schizophrenia

Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis

Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation

Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia

Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders.

Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

Multiplex Amplicon Quantification (MAQ), a fast and efficient method for the simultaneous detection of copy number alterations in neuroblastoma

Multiplex amplicon quantification screening the ABCA13 gene for copy number variation in schizophrenia and bipolar disorder.

Mutations in SACS cause atypical and late-onset forms of ARSACS.

Mutations in SEPT9 cause hereditary neuralgic amyotrophy

Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS

No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity

No evidence for the involvement of CAG/CTG repeats from within 18q21.33–q23 in bipolar disorder

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

Performance of multiplicom's BRCA MASTR Dx kit on the detection of BRCA1 and BRCA2 mutations in fresh frozen ovarian and breast tumor samples

Progranulin locus deletion in frontotemporal dementia

Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?

Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population

Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease

Response of DNA fragments to potentiometric sensors studied using HPLC.

Sequencing of DISC1 pathway genes reveals increased burden of rare missense variants in schizophrenia patients from a northern Swedish population.

Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR-based GS-FLX sequencing.

Strong evidence that GNB1L is associated with schizophrenia

Support for NRG1 as a Susceptibility Factor for Schizophrenia in a Northern Swedish Isolated Population

TP53 Outperforms Other Androgen Receptor Biomarkers to Predict Abiraterone or Enzalutamide Outcome in Metastatic Castration-Resistant Prostate Cancer

The skin microbiome of caspase-14-deficient mice shows mild dysbiosis.

Trinucleotide repeat expansions: do they contribute to bipolar disorder? ⬇️