Publications
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. Sci Rep. 2015 ;5:18287.
. Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. J Clin Endocrinol Metab. 2015 ;100(1):E140-7.
. The genome of the model beetle and pest Tribolium castaneum. Nature. 2008 ;452(7190):949-55.
. PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia. Nat Commun. 2020 ;11(1):5903.
. Neuropeptide S receptor 1 is a nonhormonal treatment target in endometriosis. Sci Transl Med. 2021 ;13(608).
. Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med. 2014 ;371(25):2363-74.
. Genomic analysis of the nuclear receptor family: new insights into structure, regulation, and evolution from the rat genome. Genome Res. 2004 ;14(4):580-90.
. Glucocorticoid receptor gene variant in the 3' untranslated region is associated with multiple measures of blood pressure. J Clin Endocrinol Metab. 2009 ;94(1):268-76.
. Growth factor-induced transcription of GluR1 increases functional AMPA receptor density in glial progenitor cells. J Neurosci. 1997 ;17(1):227-40.
. NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. Sci Rep. 2015 ;5:18287.
. Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1. J Exp Med. 2008 ;205(12):2711-6.
. The extent of genetic variation in the CCR5 gene. Nat Genet. 1997 ;16(3):221-2.
. CFFM4: a new member of the CD20/FcepsilonRIbeta family. Immunogenetics. 2001 ;53(6):468-76.
. An entropy-based genome-wide transmission/disequilibrium test. Hum Genet. 2007 ;121(3-4):357-67.
. TREM-1, MDL-1, and DAP12 expression is associated with a mature stage of myeloid development. Mol Immunol. 2002 ;38(11):817-24.
. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nat Genet. 2017 ;49(9):1373-1384.
. The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. Hum Mol Genet. 2018 ;27(12):2064-2075.
. .
Predominance of a type 2 intratumoural immune response in fresh tumour-infiltrating lymphocytes from human gliomas. Clin Exp Immunol. 1996 ;105(2):344-52.
. .
Association of exome sequences with plasma C-reactive protein levels in >9000 participants. Hum Mol Genet. 2015 ;24(2):559-71.
. Genome-wide association study of circulating interleukin 6 levels identifies novel loci. Hum Mol Genet. 2021 ;30(5):393-409.
. Expression and regulation of kainate and AMPA receptors in the rat neural tube. J Neurosci Res. 1998 ;52(3):356-68.
. Characterization of the rat GRIK5 kainate receptor subunit gene promoter and its intragenic regions involved in neural cell specificity. J Biol Chem. 2001 ;276(45):42162-71.
. Improved full-length killer cell immunoglobulin-like receptor transcript discovery in Mauritian cynomolgus macaques. Immunogenetics. 2017 ;69(5):325-339.
.