2020
A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant.
Meriç R, Ercan-Sencicek AG, Uludağ Alkaya D, Şahin Y, Sar M, Bilguvar K, Tüysüz B. A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant. Clinical Dysmorphology 2020, 30: 54-57. PMID: 32969855, DOI: 10.1097/mcd.0000000000000350.Peer-Reviewed Case Reports and Technical Notes
2015
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF, Klei L, Mandell JD, Moreno-De-Luca D, Poultney CS, Robinson EB, Smith L, Solli-Nowlan T, Su MY, Teran NA, Walker MF, Werling DM, Beaudet AL, Cantor RM, Fombonne E, Geschwind DH, Grice DE, Lord C, Lowe JK, Mane SM, Martin DM, Morrow EM, Talkowski ME, Sutcliffe JS, Walsh CA, Yu TW, Consortium A, Ledbetter DH, Martin CL, Cook EH, Buxbaum JD, Daly MJ, Devlin B, Roeder K, State MW. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron 2015, 87: 1215-1233. PMID: 26402605, PMCID: PMC4624267, DOI: 10.1016/j.neuron.2015.09.016.Peer-Reviewed Original ResearchMeSH KeywordsAutism Spectrum DisorderFemaleGenetic LociGenetic VariationHumansMaleProtein Interaction MapsConceptsAutism Genome ProjectAutism Sequencing ConsortiumRisk lociRisk genesSimons Simplex CollectionASD risk lociDe novo CNVsGenomic architectureSequencing ConsortiumExome sequencing dataDe novo deletionsCNV regionsDe novo mutationsGenome ProjectSequencing dataNovo deletionGenesCNV dataLociNovo mutationsDeletionAssociation TestBiologyMutationsStrong evidence