about
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degenerationMutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone lossAP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 traffickingMutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndromeGermline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin FragilityMutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesiaDeficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative diseaseMaspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementiaGain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomaliesMutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystoniaAssessment of Minimal Residual Disease in Standard-Risk AML.Acne and Telomere Length: A New Spectrum Between Senescence and Apoptosis PathwaysMutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical developmentRecurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberLarge Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFRNegligible impact of rare autoimmune-locus coding-region variants on missing heritabilityRecessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.De novo mutations in MLL cause Wiedemann-Steiner syndrome.Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element.PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairmentEnrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects.Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defectsMutations in TJP2 cause progressive cholestatic liver disease.Defective mitochondrial mRNA maturation is associated with spastic ataxiaPatient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing.A three-stage genome-wide association study of general cognitive ability: hunting the small effects.Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.Defects of CRB2 cause steroid-resistant nephrotic syndrome.The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow up.Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genesThe ErbB4 CYT2 variant protects EGFR from ligand-induced degradation to enhance cancer cell motility.Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54).Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.Candidate driver genes involved in genome maintenance and DNA repair in Sézary syndrome.Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
P50
Q21710716-C2A30C7E-8C44-4D54-A50C-9277B543EFCEQ24295008-C71AE8A2-620C-4A87-9DAE-9DE03E8B648CQ24296788-D6DB9F48-B375-4044-9777-7152003BEF30Q24302372-4F45BA13-68C4-4960-94CA-42FE51BFB134Q24304339-8D5E8320-FA58-4692-9F0F-F978DECCF618Q24312391-2F4B3D89-F69B-4A12-905B-5F923FF34E1AQ24324561-B2A19EB5-3C2B-4A45-8920-2842795519AFQ24532220-03CA278B-F413-42D6-AA10-B80DE98C7DCAQ24626495-4CE6E7E7-5AA6-447D-85D3-81EAC57F8BE1Q27316540-FE7381F0-385C-4344-9D9C-724142D9CF49Q27853325-5B159C8F-E187-4BBA-AA19-63CFDE7B5D79Q28005562-293EB41E-1813-410A-ABC4-8565A227860BQ28589137-CBB26108-A841-448D-A372-A36DE0C1AB84Q29147460-20DB2A69-E2E4-49D0-A1F5-5ADDE7EFEDCFQ29871431-DA2588D9-C0CC-4DFB-953A-A6B276888A4CQ30415389-FA708D14-4C06-4D6A-90C8-2F63F2C6FCD5Q30415780-A91EE8C7-8EA5-41E0-92E0-A3155C704A9CQ30438813-335CF8E5-FAB4-4C09-BB52-6BE1B6191920Q30458307-FEC69536-C9D1-44ED-BA50-EE2D66F3F778Q30469652-734ABA5E-7664-424E-AFF6-A8568D17531AQ31131610-E1DB84D1-E33E-4A88-AE94-AE748EC9CD0CQ32884505-96DD9586-5D53-4D81-BAA3-34E29E7AD91DQ33410783-0CD72829-DDAA-49F0-85CC-9B4C3D2311E5Q33434291-A5DCF759-721D-477D-A28D-F8948651DDA1Q33770688-5284DAE2-CFC3-4DD7-ADDB-F63A17D7FA14Q34300940-990BAA72-079F-488C-8DE1-D9804112E104Q34321612-0AE19A00-B59D-44EC-9FD5-F97327C968DBQ34355762-EFFA966A-FEF5-4C60-9CE3-A186081A38EEQ34361627-79191C67-6AC1-4E3B-BB3B-7D88F16C1637Q34902982-767511A6-983C-47E2-A527-DBCB957FCE82Q34980831-406D10BF-FCB8-4B7A-A3AA-8169D7678F4EQ35032028-8FB4E7C4-29E3-4E19-A7DE-4ADF7E8E83C4Q35104679-B36ED54D-0772-4F1F-947A-3115913AB7EAQ35228445-822E816E-24AC-4185-BD4F-CA2D6DEC023FQ35675022-D92F6721-3073-48CA-B12E-D1ADE3350439Q35748353-07DB9B9D-7A12-48DF-9EC6-76C98D5BFD51Q35748373-BF3EF989-25D9-4A50-86D0-A9A3C682D6CAQ35906336-2859969F-363A-46AF-8655-BEF80EA238CFQ36001193-F9AB7735-F355-400B-9D2E-94F175AADF26Q36055794-3DF75AF0-47F5-4664-9B34-DB5308785B03
P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Michael Simpson
@ast
Michael Simpson
@en
Michael Simpson
@es
Michael Simpson
@nl
Michael Simpson
@sl
type
label
Michael Simpson
@ast
Michael Simpson
@en
Michael Simpson
@es
Michael Simpson
@nl
Michael Simpson
@sl
prefLabel
Michael Simpson
@ast
Michael Simpson
@en
Michael Simpson
@es
Michael Simpson
@nl
Michael Simpson
@sl
P1053
F-4737-2011
P106
P21
P31
P3829
P496
0000-0002-8539-8753