Author pages are created from data sourced from our academic publisher partnerships and public sources.
- Publications
- Influence
Analysis of shared heritability in common disorders of the brain
- V. Anttila, B. Bulik-Sullivan, +497 authors B. Crespo-Facorro
- Medicine
- Science
- 22 June 2018
Brainstorming diseases Consistent classification of neuropsychiatric diseases is problematic because it can lead to misunderstanding of etiology. The Brainstorm Consortium examined multiple… Expand
Genome-wide meta-analysis identifies new susceptibility loci for migraine
- V. Anttila, B. Winsvold, +92 authors A. Palotie
- Biology, Medicine
- Nature Genetics
- 23 June 2013
Migraine is the most common brain disorder, affecting approximately 14% of the adult population, but its molecular mechanisms are poorly understood. We report the results of a meta-analysis across 29… Expand
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
- P. Gormley, V. Anttila, +104 authors A. Palotie
- Biology, Medicine
- Nature Genetics
- 1 June 2016
Migraine is a debilitating neurological disorder affecting around one in seven people worldwide, but its molecular mechanisms remain poorly understood. There is some debate about whether migraine is… Expand
Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1
- V. Anttila, H. Stefánsson, +62 authors A. Palotie
- Biology, Medicine
- Nature Genetics
- 6 August 2010
Migraine is a common episodic neurological disorder, typically presenting with recurrent attacks of severe headache and autonomic dysfunction. Apart from rare monogenic subtypes, no genetic or… Expand
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
- Rami Abou Jamra, O. Philippe, +11 authors L. Colleaux
- Biology, Medicine
- American journal of human genetics
- 10 June 2011
Intellectual disability inherited in an autosomal-recessive fashion represents an important fraction of severe cognitive-dysfunction disorders. Yet, the extreme heterogeneity of these conditions… Expand
Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome
- Mark T. Handley, D. Morris-Rosendahl, +32 authors I. Aligianis
- Biology, Medicine
- Human mutation
- 1 May 2013
Warburg Micro syndrome and Martsolf syndrome (MS) are heterogeneous autosomal‐recessive developmental disorders characterized by brain, eye, and endocrine abnormalities. Causative biallelic germline… Expand
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
- G. Borck, Atteeq Ur Rehman, +39 authors C. Kubisch
- Biology, Medicine
- American journal of human genetics
- 11 February 2011
By using homozygosity mapping in a consanguineous Pakistani family, we detected linkage of nonsyndromic hearing loss to a 7.6 Mb region on chromosome 3q13.31-q21.1 within the previously reported… Expand
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood
Dopamine transporter deficiency syndrome is an SLC6A3-related progressive infantile-onset parkinsonism-dystonia that mimics cerebral palsy. Ng et al. describe clinical features and molecular findings… Expand
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families
- M. Willems, D. Geneviève, +17 authors V. Cormier-Daire
- Biology, Medicine
- Journal of Medical Genetics
- 29 July 2009
TLDR
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.
- E. Mangold, A. Böhmer, +30 authors K. Ludwig
- Biology, Medicine
- American journal of human genetics
- 7 April 2016
Nonsyndromic cleft lip with/without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO) are the most frequent subphenotypes of orofacial clefts. A common syndromic form of orofacial… Expand