User profiles for Roel A. Ophoff
Roel A. OphoffProfessor of Psychiatry and Human Genetics, University of California Los Angeles Verified email at ucla.edu Cited by 93984 |
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4
RA Ophoff, GM Terwindt, MN Vergouwe, R van Eijk… - Cell, 1996 - cell.com
Genes for familial hemiplegic migraine (FHM) and episodic ataxia type-2 (EA-2) have been
mapped to chromosome 19p13. We characterized a brain-specific P/Q-type Ca 2+ channel …
mapped to chromosome 19p13. We characterized a brain-specific P/Q-type Ca 2+ channel …
Biological insights from 108 schizophrenia-associated genetic loci
…, PB Mortensen, BJ Mowry, MM Nöthen, RA Ophoff… - Nature, 2014 - nature.com
Schizophrenia is a highly heritable disorder. Genetic risk is conferred by a large number of
alleles, including common alleles of small effect that might be detected by genome-wide …
alleles, including common alleles of small effect that might be detected by genome-wide …
Common variants conferring risk of schizophrenia
Schizophrenia is a complex disorder, caused by both genetic and environmental factors and
their interactions. Research on pathogenesis has traditionally focused on neurotransmitter …
their interactions. Research on pathogenesis has traditionally focused on neurotransmitter …
Large recurrent microdeletions associated with schizophrenia
Reduced fecundity, associated with severe mental disorders 1 , places negative selection
pressure on risk alleles and may explain, in part, why common variants have not been found …
pressure on risk alleles and may explain, in part, why common variants have not been found …
Rare coding variants in ten genes confer substantial risk for schizophrenia
Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
Genome-wide association studies and candidate gene studies in ulcerative colitis have
identified 18 susceptibility loci. We conducted a meta-analysis of six ulcerative colitis genome-…
identified 18 susceptibility loci. We conducted a meta-analysis of six ulcerative colitis genome-…
Multiple common variants for celiac disease influencing immune gene expression
…, JA Murray, C Núñez, E Oosterom, RA Ophoff… - Nature …, 2010 - nature.com
We performed a second-generation genome-wide association study of 4,533 individuals with
celiac disease (cases) and 10,750 control subjects. We genotyped 113 selected SNPs with …
celiac disease (cases) and 10,750 control subjects. We genotyped 113 selected SNPs with …
Subcortical brain volume abnormalities in 2028 individuals with schizophrenia and 2540 healthy controls via the ENIGMA consortium
The profile of brain structural abnormalities in schizophrenia is still not fully understood,
despite decades of research using brain scans. To validate a prospective meta-analysis …
despite decades of research using brain scans. To validate a prospective meta-analysis …
Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
…, M Navratilova, I Ntalla, JK O'Toole, RA Ophoff… - Nature …, 2019 - nature.com
Characterized primarily by a low body-mass index, anorexia nervosa is a complex and
serious illness 1 , affecting 0.9–4% of women and 0.3% of men 2 , 3 – 4 , with twin-based …
serious illness 1 , affecting 0.9–4% of women and 0.3% of men 2 , 3 – 4 , with twin-based …
[HTML][HTML] Cortical brain abnormalities in 4474 individuals with schizophrenia and 5098 control subjects via the enhancing neuro imaging genetics through meta …
Background The profile of cortical neuroanatomical abnormalities in schizophrenia is not
fully understood, despite hundreds of published structural brain imaging studies. This study …
fully understood, despite hundreds of published structural brain imaging studies. This study …