K. Gassen

发表

A Post‐Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

Christian Gilissen, Ilse Feenstra, Nienke Wieskamp, 2013, Human mutation.

Chronic exposure to the chemokine CCL3 enhances neuronal network activity in rat hippocampal cultures

D. Gruol, M. Kuijpers, K. Gassen, 2010, Journal of Neuroimmunology.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

R. Pfundt, A. Hamosh, M. Broly, 2020, Genetics in Medicine.

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

T. Wieland, T. Strom, J. Veltman, 2014, Human Genetics.

MCM 3 AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

P. Lockhart, L. Kauppi, A. Oshlack, 2022 .

Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

I. Scheffer, J. Gécz, J. McNamara, 2016, Epilepsy Research.

Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges

A. El-Hattab, J. Jans, B. Braffman, 2017, Journal of child neurology.

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

S. Nelson, J. Graham, J. Martinez-Agosto, 2018, Genetics in Medicine.

Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

W. Chung, S. B. Wechsler, R. Person, 2016, neurogenetics.

The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry

R. Lea, T. Bird, S. Mossman, 2013, Journal of Neurology.

Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

H. Mefford, W. Chung, R. Møller, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes

R. Houwen, P. Nikkels, S. Hoeks, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

E. Bertini, M. Karayiorgou, S. Lalani, 2019, American journal of human genetics.

Points to consider for laboratories reporting results from diagnostic genomic sequencing

B. Knoppers, A. Clarke, K. Sénécal, 2017, European Journal of Human Genetics.

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

R. Pfundt, S. Robertson, D. Wieczorek, 2017, American journal of human genetics.

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

L. Vissers, T. Wieland, T. Strom, 2014, Human Genetics.

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

S. Nelson, J. Graham, J. Martinez-Agosto, 2018, Genetics in Medicine.