Ressources & publications
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2012Journal (source)Nat GenetMutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe ...
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2012Journal (source)Am J Hum Genet
TCTN3 mutations cause Mohr-Majewski syndrome.
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2011Journal (source)Nat Genet
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
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2021Journal (source)J Allergy Clin Immunol
Improving the diagnostic efficiency of primary immunodeficiencies with target...
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2021Journal (source)J Allergy Clin Immunol
Improving the diagnostic efficiency of primary immunodeficiencies with target...
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2017Journal (source)J Clin Immunol
Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event A...
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2015Journal (source)J Allergy Clin Immunol
An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, ...
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2021Journal (source)J Clin Invest
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with g...
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2020Journal (source)Genet Med
Phenotypic spectrum and transcriptomic profile associated with germline varia...
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2013Journal (source)Am J Hum Genet
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
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2015Journal (source)Am J Hum Genet
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ...
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2012Journal (source)Am J Hum Genet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
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2022Journal (source)Am J Hum Genet
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with c...
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2023Journal (source)Kidney Int
A wave of deep intronic mutations in X-linked Alport syndrome.
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2023Journal (source)iScience
VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using ...
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2012Journal (source)Nat Genet
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe ...
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2012Journal (source)Am J Hum Genet
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
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2024Journal (source)Cancer Res
Comprehensive Genetic Profiling Reveals Frequent Alterations of Driver Genes ...
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2025Journal (source)Lancet Neurol
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.
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2015Journal (source)J. Clin. Invest.
A human immunodeficiency caused by mutations in the PIK3R1 gene.
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2019Journal (source)Blood
EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.
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2019Journal (source)Hum. Mol. Genet.
Human IFT52 mutations uncover a novel role for the protein in microtubule dyn...
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2019Journal (source)J. Clin. Invest.
Human C-terminal CUBN variants associate with chronic proteinuria and normal ...
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2017Journal (source)Nat. Genet.
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and a...
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2017Journal (source)Am. J. Hum. Genet.
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
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2016Journal (source)Nat. Genet.
MMP21 is mutated in human heterotaxy and is required for normal left-right as...
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2015Journal (source)Am. J. Hum. Genet.
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis ...
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2014Journal (source)Am. J. Hum. Genet.
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and domin...
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2019Journal (source)J. Invest. Dermatol.
A TP63 mutation causes prominent alopecia with mild ectodermal dysplasia.
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2018Journal (source)Nat Commun
AMPA-receptor specific biogenesis complexes control synaptic transmission and...
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2017Journal (source)Am. J. Hum. Genet.
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
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2020Journal (source)Science
Auto-antibodies against type I IFNs in patients with life-threatening COVID-19.
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2020Journal (source)Science
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
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2014Journal (source)Am J Hum Genet
XYLT1 mutations in Desbuquois dysplasia type 2.
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2014Journal (source)Am J Hum Genet
XYLT1 mutations in Desbuquois dysplasia type 2.
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2020Journal (source)J Clin Invest
Human C-terminal CUBN variants associate with chronic proteinuria and normal ...
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2020Journal (source)Nat Commun
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisph...