Parental origin of chromosome 22 alleles lost in meningioma

Posttranslational modifications & lithium's therapeutic effect-Potential biomarkers for clinical responses in psychiatric & neurodegenerative disorders.

Neuroscience and biobehavioral reviews·2021

Alpha galactosidase A activity in Parkinson's disease.

Neurobiology of disease·2018

Rare susceptibility variants for bipolar disorder suggest a role for G protein-coupled receptors.

Molecular psychiatry·2017

Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia.

Translational psychiatry·2017

Neurons derived from patients with bipolar disorder divide into intrinsically different sub-populations of neurons, predicting the patients' responsiveness to lithium.

Molecular psychiatry·2017

Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures.

Clinical genetics·2016

Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I.

American journal of human genetics·2026

Integrating clinical diagnostics with interventional genetics for neurodevelopmental disorders.

American journal of human genetics·2026

Effect heterogeneity reveals complex pleiotropic effects of rare coding variants.

American journal of human genetics·2026

Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy.

American journal of human genetics·2026

Genetic data sharing by clinical laboratories in Canada: A position statement by the Canadian College of Medical Geneticists.

American journal of human genetics·2026

Robust cis-by-trans epistasis in the human plasma proteome highlights an ABO-centered interaction network.

American journal of human genetics·2026

A Case of Early-Onset VCP-Related Frontotemporal Dementia: Insights from Neuroimaging and Genetic Analysis.

The Yale journal of biology and medicine·2026

Genetic testing and counselling of patients with monogenic amyotrophic lateral sclerosis in Northern Finland: a retrospective, single-centre study.

European journal of human genetics : EJHG·2026

[Genetic therapies for Stargardt disease].

Die Ophthalmologie·2026

The NBGENS project protocol: Pilot study for genetic newborn screening in Galicia.

PloS one·2026

Targeted-Release Formulation Budesonide (Nefecon) for the Treatment of IgA Nephropathy in Three Adolescents.

Kidney360·2026

The utility of animal models in hiPSC-based studies of autism spectrum disorder: a systematic review.

Einstein (Sao Paulo, Brazil)·2026

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Parental origin of chromosome 22 alleles lost in meningioma

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Posttranslational modifications & lithium's therapeutic effect-Potential biomarkers for clinical responses in psychiatric & neurodegenerative disorders.

Alpha galactosidase A activity in Parkinson's disease.

Rare susceptibility variants for bipolar disorder suggest a role for G protein-coupled receptors.

Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia.

Neurons derived from patients with bipolar disorder divide into intrinsically different sub-populations of neurons, predicting the patients' responsiveness to lithium.

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