E. Haan

发表

Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

Sandya Liyanarachchi, Pearlly Yan, Dagmar Wieczorek, 2011, Science.

Functional genomics analysis identifies impairment of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome

A. Sinclair, Q. Nguyen, P. Koopman, 2022, bioRxiv.

Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

M. Nalls, A. Ramasamy, P. Pietrini, 2019, Scientific Reports.

Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 gene.

L. Adès, E. Haan, M. Gibson, 1998, European journal of biochemistry.

Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema

U. Felbor, G. Secker, R. Helaers, 2022, Science Translational Medicine.

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

B. Coe, K. Friend, P. Lockhart, 2017, Nature Genetics.

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia.

Nick C. Fox, Pietro Pietrini, Alexander Gerhard, 2018, Nature Medicine.

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

Mahshid S. Azamian, J. Rosenfeld, J. Gécz, 2019, Science Advances.

Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder

J. Gécz, J. Gleeson, M. Corbett, 2022, NPJ genomic medicine.

Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases

Bradley P. Coe, B. Coe, K. Friend, 2017, Nature Genetics.

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.

E. Haan, D. Baralle, D. Evans, 2007, American journal of human genetics.

Chronic colitis due to an epithelial barrier defect: the role of kindlin‐1 isoforms

E. Haan, C. Herz, O. Opitz, 2007, The Journal of pathology.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains

Bradley P. Coe, B. Coe, K. Friend, 2017, Nature Neuroscience.

CXCR4 involvement in neurodegenerative diseases

O. Andreassen, G. Schellenberg, A. Dale, 2017, bioRxiv.

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

E. Haan, S. Huson, N. Thomas, 2009, Journal of Medical Genetics.

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

Kali T. Witherspoon, Bradley P. Coe, R Bernier, 2016, Molecular Psychiatry.

Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome.

E. Haan, M. Wagner, M. Frydman, 1995, Human molecular genetics.

CCDC22: a novel candidate gene for syndromic X-linked intellectual disability

K. Friend, E. Haan, J. Gécz, 2012, Molecular Psychiatry.

Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I.

E. Haan, L. Kunkel, A. Beggs, 1992, American journal of human genetics.

Chromosomal origin of small ring marker chromosomes in man: characterization by molecular genetics.

E. Haan, D. Callen, H. Eyre, 1991, American journal of human genetics.

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Andrew Menzies, Sarah Edkins, Sara Widaa, 2008, Nature Genetics.

A Dynamic Knockout Reveals That Conformational Fluctuations Influence the Chemical Step of Enzyme Catalysis

Wei Li, H. Dyson, P. Wright, 2011, Science.

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy

R A Gibbs, B. V. van Bon, E. Haan, 2015, Molecular Psychiatry.

Linkage and Loss of Heterozygosity

G. Chenevix-Trench, D. Ravine, D. Goldgar, 2006 .

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

S. Huson, G. Spurlock, N. Chuzhanova, 2009, Journal of Medical Genetics.