D. Goossens

发表

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

I. Scheffer, L. Lagae, S. Berkovic, 2010, Neurology.

Sequencing of DISC1 Pathway Genes Reveals Increased Burden of Rare Missense Variants in Schizophrenia Patients from a Northern Swedish Population

K. Van Steen, L. Nilsson, L. Moens, 2011, PloS one.

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

S. Züchner, B. Dan, P. van Damme, 2014, neurogenetics.

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

G. Ellison, E. Capoluongo, S. Bézieau, 2016, Oncotarget.

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

P. Deyn, C. Broeckhoven, K. Sleegers, 2009, Neurobiology of Aging.

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

D. Grozeva, N. Craddock, E. Green, 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

C. Broeckhoven, S. Claes, D. Souery, 2008, Molecular Psychiatry.

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

S. Sleijfer, J. Lindberg, H. Grönberg, 2018, Clinical Cancer Research.

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

C. van Broeckhoven, S. Engelborghs, P. D. De Deyn, 2009, Human mutation.

A novel CpG-associated brain-expressed candidate gene for chromosome 18q-linked bipolar disorder

P. D. Rijk, C. Broeckhoven, S. Claes, 2002, Molecular Psychiatry.

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

C. Broeckhoven, K. Claeys, W. Paesschen, 2005, Human Genetics.

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

P. D. Rijk, L. Moens, E. Nelis, 2009, Human mutation.

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

W. Robberecht, P. van Damme, L. de Meirleir, 2010, Neurology.

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

L. Lagae, K. Claeys, B. Ceulemans, 2006, Human mutation.

Mutations in SEPT9 cause hereditary neuralgic amyotrophy

E. Ringelstein, J. Meuleman, T. Bird, 2005, Nature Genetics.

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

F. Speleman, J. Vandesompele, N. Van Roy, 2010, BMC Genomics.

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

D. Blackwood, B. Pickard, J. Mendlewicz, 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

Isabelle Cleynen, Michel Georges, Paul Rutgeerts, 2011, Nature Genetics.

Trinucleotide repeat expansions: do they contribute to bipolar disorder?

C. Broeckhoven, J. Del-Favero, D. Goossens, 2001, Brain Research Bulletin.

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

K. Sleegers, C. van Broeckhoven, C. V. van Duijn, 2006, Brain : a journal of neurology.

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

J. D. Favero, K. Freson, C. Thys, 2012, Journal of Human Genetics.

Familial occipitotemporal lobe epilepsy and migraine with visual aura

W. van Paesschen, K. Claeys, W. Paesschen, 2007, Neurology.

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

Dyck, W. van Paesschen, C. van Broeckhoven, 2005, Journal of Medical Genetics.

Novel locus on chromosome 12q22–q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures

W. van Paesschen, C. van Broeckhoven, C. Depondt, 2004, Journal of Medical Genetics.

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

D. Clair, S. Lawrie, A. McIntosh, 2015, Molecular Neuropsychiatry.

Gene copy number variation in schizophrenia

N. Williams, N. Norton, Smitha R. Sutrala, 2007, Schizophrenia Research.

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

M. Nyegaard, A. Børglum, J. Del-Favero, 2012, European Journal of Human Genetics.

Strong evidence that GNB1L is associated with schizophrenia.

D. Rujescu, I. Giegling, G. Kirov, 2008, Human molecular genetics.

Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.

J. Theuns, H. Backhovens, A. Wehnert, 1998, Human molecular genetics.

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

C. Broeckhoven, S. Claes, J. Mendlewicz, 2000, European Journal of Human Genetics.

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

C. van Broeckhoven, P. de Jonghe, J. Del-Favero, 1999, Human Genetics.

YAC fragmentation with repetitive and single-copy sequences: detailed physical mapping of the presenilin 1 gene on chromosome 14.

C. van Broeckhoven, J. Del-Favero, D. Goossens, 1999, Gene.

Support for NRG1 as a susceptibility factor for schizophrenia in a northern Swedish isolated population.

Lars-Göran Nilsson, Jurgen Del-Favero, Peter De Rijk, 2009, Archives of general psychiatry.

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

W. van Paesschen, P. Dupont, P. Ryvlin, 2008, Brain : a journal of neurology.

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

L. Nilsson, L. Moens, D. Forero, 2009, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.

The skin microbiome of caspase‐14‐deficient mice shows mild dysbiosis

F. Hildebrand, J. Raes, P. Vandenabeele, 2014, Experimental dermatology.

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

D. Dickson, K. Sleegers, C. van Broeckhoven, 2007, Brain : a journal of neurology.

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

W. Robberecht, P. Bergh, K. Dahan, 2010 .

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11

C. Petit, D. Weil, T. Yang, 2008, Clinical genetics.

Progranulin locus deletion in frontotemporal dementia

C. Broeckhoven, S. Engelborghs, M. Cruts, 2008, Human mutation.

Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa‐responsive dystonia

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2012, Movement disorders : official journal of the Movement Disorder Society.

Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis

C. Duijn, C. Broeckhoven, A. Sadovnick, 2008, Nature Genetics.

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

S. Züchner, B. Dan, Y. Parman, 2014, neurogenetics.

Copy-number variations in DISC 1 and DISC 1-interacting partners in major mental illness

A. McIntosh, D. Blackwood, B. Pickard, 2016 .

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

C. van Broeckhoven, J. D. den Dunnen, M. Cruts, 1999, Mammalian Genome.

Support for NRG1 as a susceptibility factor for schizophrenia in a northern Swedish isolated population.

L. Nilsson, L. Moens, D. Forero, 2009, Archives of general psychiatry.

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

S. Lawrie, A. McIntosh, D. Blackwood, 2015, Molecular Neuropsychiatry.

Sixth World Congress of Psychiatric Genetics X Chromosome Workshop.

S. Klauck, A. Paterson, D. Levinson, 1999 .