X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

Thyroid hormone transporters in the human

(2014) Olga Karapanou et al.   Hormones-International Journal of Endocrinology and Metabolism

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

(2013) Amélie Piton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Relevance of Different Cellular Models in Determining the Effects of Mutations on SLC16A2/MCT8 Thyroid Hormone Transporter Function and Genotype-Phenotype Correlation

(2013) Yline Capri et al.   HUMAN MUTATION

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

(2013) Janneke H M Schuurs-Hoeijmakers et al.   JOURNAL OF MEDICAL GENETICS

The Neurobiology of X-Linked Intellectual Disability

(2013) Silvia Bassani et al.   NEUROSCIENTIST

A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

(2012) Lingli Huang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Retracted: Exploring the potential role of disease-causing mutation in a gene desert: Duplication of noncoding elements 5′ ofGRIA3is associated withGRIA3silencing and X-linked intellectual disability

(2011) Céline Bonnet et al.   HUMAN MUTATION

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

(2010) Hanka Venselaar et al.   BMC BIOINFORMATICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

AberrantGRIA3transcripts with multi-exon duplications in a family with X-linked mental retardation

(2009) C. Bonnet et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Functional annotations improve the predictive score of human disease-related mutations in proteins

(2009) Remo Calabrese et al.   HUMAN MUTATION

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation

(2009) Ginevra Zanni et al.   NEUROGENETICS

MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression

(2008) Suzanna Gerarda Maria Frints et al.   EUROPEAN JOURNAL OF HUMAN GENETICS