Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder
暂无分享,去创建一个
M. Fichera | C. Romano | M. Vinci | T. Mattina | C. Scuderi | L. Castiglia | O. Galesi | M. Salemi | S. Città | E. Borgione | Lucia Saccuzzo
[1] D. Schiller,et al. The social hippocampus , 2018, Hippocampus.
[2] T. Langenhan,et al. Adhesion G protein-coupled receptors in nervous system development and disease , 2016, Nature Reviews Neuroscience.
[3] V. Caputo,et al. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof‐of‐concept examples , 2016, American journal of medical genetics. Part A.
[4] J. Toutain,et al. Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents , 2015, American journal of medical genetics. Part A.
[5] Hui Yang,et al. Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR , 2015, Nature Protocols.
[6] A. Visel,et al. Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions , 2015, Cell.
[7] Mathew W. Wright,et al. International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G Protein–Coupled Receptors , 2015, Pharmacological Reviews.
[8] Philippe Isope,et al. The Secreted Protein C1QL1 and Its Receptor BAI3 Control the Synaptic Connectivity of Excitatory Inputs Converging on Cerebellar Purkinje Cells. , 2015, Cell reports.
[9] Soichi Nagao,et al. Anterograde C1ql1 Signaling Is Required in Order to Determine and Maintain a Single-Winner Climbing Fiber in the Mouse Cerebellum , 2015, Neuron.
[10] Neal J. Cohen,et al. The role of the hippocampus in flexible cognition and social behavior , 2014, Front. Hum. Neurosci..
[11] Donna M. Muzny,et al. Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D , 2013, Genetics in Medicine.
[12] Mauricio O. Carneiro,et al. From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline , 2013, Current protocols in bioinformatics.
[13] P. Stankiewicz,et al. Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles , 2013, Genome research.
[14] N. Heintz,et al. The adhesion-GPCR BAI3, a gene linked to psychiatric disorders, regulates dendrite morphogenesis in neurons , 2013, Molecular Psychiatry.
[15] Heng Li. Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM , 2013, 1303.3997.
[16] R. Steer,et al. Manual for the Beck Anxiety Inventory. , 2013 .
[17] Lilia M. Iakoucheva,et al. Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation , 2012, Cell.
[18] S. Sparrow,et al. Vineland Adaptive Behavior Scales, Second Edition , 2012 .
[19] D. Wechsler,et al. Wechsler Adult Intelligence Scale - fourth edition , 2012 .
[20] Donna M. Martin,et al. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. , 2012, The New England journal of medicine.
[21] Chih-Hao Hsu,et al. Identification and characterization of three inherited genomic copy number variations associated with familial schizophrenia , 2012, Schizophrenia Research.
[22] M. McCarthy,et al. A Survey of Genomic Studies Supports Association of Circadian Clock Genes with Bipolar Disorder Spectrum Illnesses and Lithium Response , 2012, PloS one.
[23] T. Südhof,et al. The cell-adhesion G protein-coupled receptor BAI3 is a high-affinity receptor for C1q-like proteins , 2011, Proceedings of the National Academy of Sciences.
[24] Christian Gilissen,et al. A de novo paradigm for mental retardation , 2010, Nature Genetics.
[25] M. DePristo,et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.
[26] L. Vissers,et al. Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. , 2009, Human molecular genetics.
[27] M. Fichera,et al. Deletion 2p25.2: a cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH. , 2009, European journal of medical genetics.
[28] P. DeRosse,et al. The genetics of symptom-based phenotypes: toward a molecular classification of schizophrenia. , 2008, Schizophrenia bulletin.
[29] Christa L Martin,et al. Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray , 2008, Genetics in Medicine.
[30] M. Yuzaki. Cbln and C1q family proteins – New transneuronal cytokines , 2008, Cellular and Molecular Life Sciences.
[31] Tomas Drgon,et al. Addiction molecular genetics: 639,401 SNP whole genome association identifies many “cell adhesion” genes , 2006, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.
[32] A. Beck,et al. An inventory for measuring depression. , 1961, Archives of general psychiatry.