Fadi F. Hamdan

Publications

• Identification of a Novel In-frame De Novo Mutation in SPTAN1 in Intellectual Disability and Pontocerebellar Atrophy
  European Journal of Human Genetics : EJHG. Jan, 2012  |   Pubmed ID: 22258530
• Truncating Mutations in NRXN2 and NRXN1 in Autism Spectrum Disorders and Schizophrenia
  Human Genetics. Oct, 2011  |   Pubmed ID: 21424692
• A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing
  PLoS Genetics. Feb, 2011  |   Pubmed ID: 21383861
• Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability
  American Journal of Human Genetics. Mar, 2011  |   Pubmed ID: 21376300
• Intellectual Disability Without Epilepsy Associated with STXBP1 Disruption
  European Journal of Human Genetics : EJHG. May, 2011  |   Pubmed ID: 21364700
• De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism
  Biological Psychiatry. May, 2011  |   Pubmed ID: 21237447
• M3-muscarinic Receptor Promotes Insulin Release Via Receptor Phosphorylation/arrestin-dependent Activation of Protein Kinase D1
  Proceedings of the National Academy of Sciences of the United States of America. Dec, 2010  |   Pubmed ID: 21078968
• De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment
  American Journal of Human Genetics. Nov, 2010  |   Pubmed ID: 20950788
• Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts
  American Journal of Human Genetics. Sep, 2010  |   Pubmed ID: 20797689
• De Novo Truncating Mutation in Kinesin 17 Associated with Schizophrenia
  Biological Psychiatry. Oct, 2010  |   Pubmed ID: 20646681
• De Novo Mutations in the Gene Encoding the Synaptic Scaffolding Protein SHANK3 in Patients Ascertained for Schizophrenia
  Proceedings of the National Academy of Sciences of the United States of America. Apr, 2010  |   Pubmed ID: 20385823
• [De Novo Mutations in SYNGAP1 Associated with Non-syndromic Mental Retardation]
  Médecine Sciences : M/S. Feb, 2010  |   Pubmed ID: 20188038
• De Novo STXBP1 Mutations in Mental Retardation and Nonsyndromic Epilepsy
  Annals of Neurology. Jun, 2009  |   Pubmed ID: 19557857
• No Association Between SRGAP3/MEGAP Haploinsufficiency and Mental Retardation
  Archives of Neurology. May, 2009  |   Pubmed ID: 19433673
• Neuronal M3 Muscarinic Acetylcholine Receptors Are Essential for Somatotroph Proliferation and Normal Somatic Growth
  Proceedings of the National Academy of Sciences of the United States of America. Apr, 2009  |   Pubmed ID: 19332789
• Mutations in SYNGAP1 in Autosomal Nonsyndromic Mental Retardation
  The New England Journal of Medicine. Feb, 2009  |   Pubmed ID: 19196676
• Novel De Novo SHANK3 Mutation in Autistic Patients
  American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. Apr, 2009  |   Pubmed ID: 18615476
• Mutations in the Calcium-related Gene IL1RAPL1 Are Associated with Autism
  Human Molecular Genetics. Dec, 2008  |   Pubmed ID: 18801879
• Metabolic Roles of the M3 Muscarinic Acetylcholine Receptor Studied with M3 Receptor Mutant Mice: a Review
  Journal of Receptor and Signal Transduction Research. 2008  |   Pubmed ID: 18437633
• Ligand-specific Changes in M3 Muscarinic Acetylcholine Receptor Structure Detected by a Disulfide Scanning Strategy
  Biochemistry. Mar, 2008  |   Pubmed ID: 18247581
• Unraveling G Protein-coupled Receptor Endocytosis Pathways Using Real-time Monitoring of Agonist-promoted Interaction Between Beta-arrestins and AP-2
  The Journal of Biological Chemistry. Oct, 2007  |   Pubmed ID: 17675294
• Distinct Structural Changes in a G Protein-coupled Receptor Caused by Different Classes of Agonist Ligands
  The Journal of Biological Chemistry. Sep, 2007  |   Pubmed ID: 17623649
• Src-dependent Phosphorylation of Beta2-adaptin Dissociates the Beta-arrestin-AP-2 Complex
  Journal of Cell Science. May, 2007  |   Pubmed ID: 17456551
• Calcitonin Gene-related Peptide Analogues with Aza and Indolizidinone Amino Acid Residues Reveal Conformational Requirements for Antagonist Activity at the Human Calcitonin Gene-related Peptide 1 Receptor
  Journal of Medicinal Chemistry. Mar, 2007  |   Pubmed ID: 17319653
• Monitoring Protein-protein Interactions in Living Cells by Bioluminescence Resonance Energy Transfer (BRET)
  Current Protocols in Neuroscience / Editorial Board, Jacqueline N. Crawley ... [et Al.]. Feb, 2006  |   Pubmed ID: 18428639
• A Critical Role for Beta Cell M3 Muscarinic Acetylcholine Receptors in Regulating Insulin Release and Blood Glucose Homeostasis in Vivo
  Cell Metabolism. Jun, 2006  |   Pubmed ID: 16753580
• Use of an in Situ Disulfide Cross-linking Strategy to Study the Dynamic Properties of the Cytoplasmic End of Transmembrane Domain VI of the M3 Muscarinic Acetylcholine Receptor
  Biochemistry. Jan, 2006  |   Pubmed ID: 16411743
• High-throughput Screening of G Protein-coupled Receptor Antagonists Using a Bioluminescence Resonance Energy Transfer 1-based Beta-arrestin2 Recruitment Assay
  Journal of Biomolecular Screening. Aug, 2005  |   Pubmed ID: 16093556
• Identification of an Agonist-induced Conformational Change Occurring Adjacent to the Ligand-binding Pocket of the M(3) Muscarinic Acetylcholine Receptor
  The Journal of Biological Chemistry. Oct, 2005  |   Pubmed ID: 16093246
• Pronounced Conformational Changes Following Agonist Activation of the M(3) Muscarinic Acetylcholine Receptor
  The Journal of Biological Chemistry. Jul, 2005  |   Pubmed ID: 15870064
• Codon Optimization Improves Heterologous Expression of a Schistosoma Mansoni CDNA in HEK293 Cells
  Parasitology Research. Jun, 2002  |   Pubmed ID: 12107483
• Use of an in Situ Disulfide Cross-linking Strategy to Map Proximities Between Amino Acid Residues in Transmembrane Domains I and VII of the M3 Muscarinic Acetylcholine Receptor
  Biochemistry. Jun, 2002  |   Pubmed ID: 12056896
• A Schistosoma Mansoni Pad1 Homologue Stabilizes C-Jun
  Molecular and Biochemical Parasitology. Apr, 2002  |   Pubmed ID: 11985875
• A Novel Schistosoma Mansoni G Protein-coupled Receptor is Responsive to Histamine
  Molecular and Biochemical Parasitology. Jan, 2002  |   Pubmed ID: 11755188
• Conformational Changes That Occur During M3 Muscarinic Acetylcholine Receptor Activation Probed by the Use of an in Situ Disulfide Cross-linking Strategy
  The Journal of Biological Chemistry. Jan, 2002  |   Pubmed ID: 11698401