A. Vino

发表

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.

Kristen M. Laricchia, Thomas M. Kitzler, D. MacArthur, 2020, American journal of human genetics.

Investigating genetic links between grapheme–colour synaesthesia and neuropsychiatric traits

J. Ward, D. Porteous, T. M. van Leeuwen, 2019, Philosophical Transactions of the Royal Society B.

Toward Robust Functional Neuroimaging Genetics of Cognition

Peter Hagoort, Julia Uddén, Evelina Fedorenko, 2019, The Journal of Neuroscience.

Rare variants in axonogenesis genes connect three families with sound–color synesthesia

Julian E. Asher, S. Baron-Cohen, S. Fisher, 2018, Proceedings of the National Academy of Sciences.

Prevalence of Borrelia burgdorferi infection in a series of 98 primary cutaneous lymphomas.

C. Doglioni, D. Fanoni, E. Berti, 2011, The oncologist.

Prevalence of chlamydial infection in a series of 108 primary cutaneous lymphomas

C. Doglioni, E. Berti, F. Facchetti, 2012, The British journal of dermatology.

Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders

Jeroen A. A. Demmers, R. Poot, P. Deriziotis, 2018, Human molecular genetics.

Identi ﬁ cation and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder

R. Pfundt, H. Brunner, P. Deriziotis, 2022 .

A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development

I. Scheffer, C. Francks, B. Mazoyer, 2018, Molecular Psychiatry.

A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment

P. Deriziotis, S. Fisher, A. Vino, 2015, European Journal of Human Genetics.

SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder

I. Scheffer, B. D. de Vries, S. Fisher, 2022, medRxiv.

Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities

W. Chung, H. Brunner, S. Fisher, 2020, Genetics in Medicine.

A Common CYFIP1 Variant at the 15q11.2 Disease Locus Is Associated with Structural Variation at the Language-Related Left Supramarginal Gyrus

John J. Foxe, Tao Wang, Simon E. Fisher, 2016, PloS one.

Evaluation of results from genome‐wide studies of language and reading in a novel independent dataset

C. Francks, S. Fisher, T. V. van Zuijen, 2016, Genes, brain, and behavior.

Immunoglobulin gene repertoire in ocular adnexal lymphomas: hints on the nature of the antigenic stimulation

K. Stamatopoulos, C. Doglioni, F. Davi, 2012, Leukemia.

Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions

R. Poot, P. Deriziotis, S. Fisher, 2022, Human molecular genetics.

Evaluation of results from genome‐wide studies of language and reading in a novel independent dataset

C. Francks, S. Fisher, P. F. Jong, 2016, Genes, brain, and behavior.

A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment

P. Deriziotis, S. Fisher, A. Vino, 2015, European Journal of Human Genetics.

Genome Sequencing of Idiopathic Speech Delay

L. Shriberg, E. Eising, A. Vino, 2024, Human Mutation.