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Journal of Human Genetics|June 17, 2016
Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disabilityKirti Mittal, Muhammad A Rafiq, Rafiullah Rafiullah, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|January 4, 2012
Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2Peter J Gianakopoulos, Yuzhi Zhang, Nela Pencea, et al.
Neurogenetics|March 20, 2014
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian familiesGerald Egger, Katharina M Roetzer, Abdul Noor, et al.
Psychiatric Genetics|July 26, 2000
Repeat sizes at CAG/CTG loci CTG18.1, ERDA1 and TGC13-7a in schizophreniaT Bowen, C A Guy, A G Cardno, et al.
Annals of Human Genetics|March 15, 2019
Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutationsHadia Gul, Abdul Haleem Shah, Ricardo Harripaul, et al.
Pharmacological Research|February 3, 2005
Identification of a naturally occurring 21 bp deletion in alpha 2c noradrenergic receptor gene and cognitive correlates to antipsychotic treatmentVincenzo De Luca, John B Vincent, Daniel J Müller, et al.
Nature Genetics|March 23, 2004
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndromeGevork N Mnatzakanian, Hannes Lohi, Iulia Munteanu, et al.
Immunity|September 10, 2013
The TACI receptor regulates T-cell-independent marginal zone B cell responses through innate activation-induced cell deathWilliam A Figgett, Kirsten Fairfax, Fabien B Vincent, et al.
Human Genetics|September 16, 1998
No evidence of expansion of CAG or GAA repeats in schizophrenia families and monozygotic twinsJ B Vincent, G Kalsi, T Klempan, et al.
Human Molecular Genetics|December 20, 2013
Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndromeDag H Yasui, Michael L Gonzales, Justin O Aflatooni, et al.
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