Bruce D. Gelb

Publications

• Genetics of Congenital Heart Disease
  Current Opinion in Cardiology. Feb, 2016  |   Pubmed ID: 26872209
• Human Engineered Cardiac Tissues Created Using Induced Pluripotent Stem Cells Reveal Functional Characteristics of BRAF-Mediated Hypertrophic Cardiomyopathy
  PloS One. 2016  |   Pubmed ID: 26784941
• When Participants in Genomic Research Grow Up: Contact and Consent At the Age of Majority
  The Journal of Pediatrics. Jan, 2016  |   Pubmed ID: 26477867
• De Novo Mutations in Congenital Heart Disease with Neurodevelopmental and Other Congenital Anomalies
  Science (New York, N.Y.). Dec, 2015  |   Pubmed ID: 26785492
• Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic Leukemia
  Cell Reports. Oct, 2015  |   Pubmed ID: 26456833
• Cardiomyopathies in Noonan Syndrome and the Other RASopathies
  Progress in Pediatric Cardiology. Jul, 2015  |   Pubmed ID: 26380542
• Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome
  Human Mutation. Nov, 2015  |   Pubmed ID: 26173643
• History of Our Understanding of the Causes of Congenital Heart Disease
  Circulation. Cardiovascular Genetics. Jun, 2015  |   Pubmed ID: 26082554
• Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations
  Human Mutation. Aug, 2015  |   Pubmed ID: 25952305
• The Third International Meeting on Genetic Disorders in the RAS/MAPK Pathway: Towards a Therapeutic Approach
  American Journal of Medical Genetics. Part A. Aug, 2015  |   Pubmed ID: 25900621
• Rapidly Progressive Hypertrophic Cardiomyopathy in an Infant with Noonan Syndrome with Multiple Lentigines: Palliative Treatment with a Rapamycin Analog
  American Journal of Medical Genetics. Part A. Apr, 2015  |   Pubmed ID: 25708222
• MATR3 Disruption in Human and Mouse Associated with Bicuspid Aortic Valve, Aortic Coarctation and Patent Ductus Arteriosus
  Human Molecular Genetics. Apr, 2015  |   Pubmed ID: 25574029
• Basic Concepts and Potential Applications of Genetics and Genomics for Cardiovascular and Stroke Clinicians: a Scientific Statement from the American Heart Association
  Circulation. Cardiovascular Genetics. Feb, 2015  |   Pubmed ID: 25561044
• Pediatric Cardiac Retransplantation: Waitlist Mortality Stratified by Age and Era
  The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation. Apr, 2015  |   Pubmed ID: 25016920
• Atenolol Versus Losartan in Children and Young Adults with Marfan's Syndrome
  The New England Journal of Medicine. Nov, 2014  |   Pubmed ID: 25405392
• Practical Guidance on Informed Consent for Pediatric Participants in a Biorepository
  Mayo Clinic Proceedings. Nov, 2014  |   Pubmed ID: 25264176
• Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data
  Circulation Research. Oct, 2014  |   Pubmed ID: 25205790
• Identification and Purification of Human Induced Pluripotent Stem Cell-derived Atrial-like Cardiomyocytes Based on Sarcolipin Expression
  PloS One. 2014  |   Pubmed ID: 25010565
• Complex Genetics and the Etiology of Human Congenital Heart Disease
  Cold Spring Harbor Perspectives in Medicine. Jul, 2014  |   Pubmed ID: 24985128
• New Mechanistic and Therapeutic Targets for Pediatric Heart Failure: Report from a National Heart, Lung, and Blood Institute Working Group
  Circulation. Jul, 2014  |   Pubmed ID: 24982119
• A PTPN11 Allele Encoding a Catalytically Impaired SHP2 Protein in a Patient with a Noonan Syndrome Phenotype
  American Journal of Medical Genetics. Part A. Sep, 2014  |   Pubmed ID: 24891296
• RAF1 Mutations in Childhood-onset Dilated Cardiomyopathy
  Nature Genetics. Jun, 2014  |   Pubmed ID: 24777450
• Activating Mutations in RRAS Underlie a Phenotype Within the RASopathy Spectrum and Contribute to Leukaemogenesis
  Human Molecular Genetics. Aug, 2014  |   Pubmed ID: 24705357
• Concise Review: Drug Discovery in the Age of the Induced Pluripotent Stem Cell
  Stem Cells Translational Medicine. Apr, 2014  |   Pubmed ID: 24493856
• Frequency of Aortic Dilation in Noonan Syndrome
  The American Journal of Cardiology. Jan, 2014  |   Pubmed ID: 24220280
• Effect of Copy Number Variants on Outcomes for Infants with Single Ventricle Heart Defects
  Circulation. Cardiovascular Genetics. Oct, 2013  |   Pubmed ID: 24021551
• Recent Advances in Understanding the Genetics of Congenital Heart Defects
  Current Opinion in Pediatrics. Oct, 2013  |   Pubmed ID: 23995429
• MiST: a New Approach to Variant Detection in Deep Sequencing Datasets
  Nucleic Acids Research. Sep, 2013  |   Pubmed ID: 23828039
• Age-dependent Germline Mosaicism of the Most Common Noonan Syndrome Mutation Shows the Signature of Germline Selection
  American Journal of Human Genetics. Jun, 2013  |   Pubmed ID: 23726368
• Mutazioni De Novo in Modifica Dell'istone Geni Nelle Malattie Cardiache Congenite
  Nature. May, 2013  |   Pubmed ID: 23665959
• Characteristics of Children and Young Adults with Marfan Syndrome and Aortic Root Dilation in a Randomized Trial Comparing Atenolol and Losartan Therapy
  American Heart Journal. May, 2013  |   Pubmed ID: 23622922
• Economic and Safety Implications of Introducing Fast Tracking in Congenital Heart Surgery
  Circulation. Cardiovascular Quality and Outcomes. Mar, 2013  |   Pubmed ID: 23443672
• Genetics of Congenital Heart Disease: the Glass Half Empty
  Circulation Research. Feb, 2013  |   Pubmed ID: 23410880
• Noonan Syndrome
  Lancet (London, England). Jan, 2013  |   Pubmed ID: 23312968
• Regulation of Embryonic and Induced Pluripotency by Aurora Kinase-p53 Signaling
  Cell Stem Cell. Aug, 2012  |   Pubmed ID: 22862944
• Char Syndrome, a Familial Form of Patent Ductus Arteriosus, with a New Finding: Hypoplasia [corrected] of the 3rd Finger
  Anadolu Kardiyoloji Dergisi : AKD = the Anatolian Journal of Cardiology. Sep, 2012  |   Pubmed ID: 22728731
• The Good SHP2 Association: a Porthole into the Genetics of Congenital Heart Disease
  Circulation. Cardiovascular Genetics. Jun, 2012  |   Pubmed ID: 22715277
• Counteracting Effects Operating on Src Homology 2 Domain-containing Protein-tyrosine Phosphatase 2 (SHP2) Function Drive Selection of the Recurrent Y62D and Y63C Substitutions in Noonan Syndrome
  The Journal of Biological Chemistry. Aug, 2012  |   Pubmed ID: 22711529
• Signaling to Cardiac Hypertrophy: Insights from Human and Mouse RASopathies
  Molecular Medicine (Cambridge, Mass.). 2012  |   Pubmed ID: 22576369
• Role of Copy Number Variants in Structural Birth Defects
  Pediatrics. Apr, 2012  |   Pubmed ID: 22430448
• A Restricted Spectrum of Mutations in the SMAD4 Tumor-suppressor Gene Underlies Myhre Syndrome
  American Journal of Human Genetics. Jan, 2012  |   Pubmed ID: 22243968
• Cathepsin K Deficiency Reduces Elastase Perfusion-induced Abdominal Aortic Aneurysms in Mice
  Arteriosclerosis, Thrombosis, and Vascular Biology. Jan, 2012  |   Pubmed ID: 21817099
• Induced Pluripotent Stem Cell-derived Cardiomyocytes As Models for Genetic Cardiovascular Disorders
  Current Opinion in Cardiology. May, 2011  |   Pubmed ID: 21451408
• Ciclosporina Attenua Cardiomyocyte Ipertrofia Indotta Da RAF1 Mutanti in Sindromi Noonan E LEOPARD
  Journal of Molecular and Cellular Cardiology. Jul, 2011  |   Pubmed ID: 21440552
• Noonan Syndrome and Clinically Related Disorders
  Best Practice & Research. Clinical Endocrinology & Metabolism. Feb, 2011  |   Pubmed ID: 21396583
• SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype-phenotype Correlations
  Human Mutation. Jul, 2011  |   Pubmed ID: 21387466
• RAS Signaling Pathway Mutations and Hypertrophic Cardiomyopathy: Getting into and out of the Thick of It
  The Journal of Clinical Investigation. Mar, 2011  |   Pubmed ID: 21339640
• Disorders of Dysregulated Signal Traffic Through the RAS-MAPK Pathway: Phenotypic Spectrum and Molecular Mechanisms
  Annals of the New York Academy of Sciences. Dec, 2010  |   Pubmed ID: 20958325
• Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines
  Pediatrics. Oct, 2010  |   Pubmed ID: 20876176
• Protein Tyrosine Phosphatase PTPN14 is a Regulator of Lymphatic Function and Choanal Development in Humans
  American Journal of Human Genetics. Sep, 2010  |   Pubmed ID: 20826270
• Heterozygous Germline Mutations in the CBL Tumor-suppressor Gene Cause a Noonan Syndrome-like Phenotype
  American Journal of Human Genetics. Aug, 2010  |   Pubmed ID: 20619386
• Patient-specific Induced Pluripotent Stem-cell-derived Models of LEOPARD Syndrome
  Nature. Jun, 2010  |   Pubmed ID: 20535210
• Ash2l Interacts with Tbx1 and is Required During Early Embryogenesis
  Experimental Biology and Medicine (Maywood, N.J.). May, 2010  |   Pubmed ID: 20463296
• Jagged1 (JAG1) Mutations in Patients with Tetralogy of Fallot or Pulmonic Stenosis
  Human Mutation. May, 2010  |   Pubmed ID: 20437614
• Proceedings from the 2009 Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back
  American Journal of Medical Genetics. Part A. Jan, 2010  |   Pubmed ID: 20014119
• A Restricted Spectrum of NRAS Mutations Causes Noonan Syndrome
  Nature Genetics. Jan, 2010  |   Pubmed ID: 19966803
• Fgfr3 is a Transcriptional Target of Ap2delta and Ash2l-containing Histone Methyltransferase Complexes
  PloS One. 2009  |   Pubmed ID: 20046871
• The Phosphatase SHP2 Regulates the Spacing Effect for Long-term Memory Induction
  Cell. Oct, 2009  |   Pubmed ID: 19804763
• Mutation of SHOC2 Promotes Aberrant Protein N-myristoylation and Causes Noonan-like Syndrome with Loose Anagen Hair
  Nature Genetics. Sep, 2009  |   Pubmed ID: 19684605
• Germline BRAF Mutations in Noonan, LEOPARD, and Cardiofaciocutaneous Syndromes: Molecular Diversity and Associated Phenotypic Spectrum
  Human Mutation. Apr, 2009  |   Pubmed ID: 19206169
• Ablation of Cathepsin K Activity in the Young Mouse Causes Hypermineralization of Long Bone and Growth Plates
  Calcified Tissue International. Mar, 2009  |   Pubmed ID: 19172215
• Phosphatase-defective LEOPARD Syndrome Mutations in PTPN11 Gene Have Gain-of-function Effects During Drosophila Development
  Human Molecular Genetics. Jan, 2009  |   Pubmed ID: 18849586
• Deficiency and Inhibition of Cathepsin K Reduce Body Weight Gain and Increase Glucose Metabolism in Mice
  Arteriosclerosis, Thrombosis, and Vascular Biology. Dec, 2008  |   Pubmed ID: 18818416
• Transcription Factor Ap2delta Associates with Ash2l and ALR, a Trithorax Family Histone Methyltransferase, to Activate Hoxc8 Transcription
  Proceedings of the National Academy of Sciences of the United States of America. May, 2008  |   Pubmed ID: 18495928
• Diverse Driving Forces Underlie the Invariant Occurrence of the T42A, E139D, I282V and T468M SHP2 Amino Acid Substitutions Causing Noonan and LEOPARD Syndromes
  Human Molecular Genetics. Jul, 2008  |   Pubmed ID: 18372317
• Somatically Acquired JAK1 Mutations in Adult Acute Lymphoblastic Leukemia
  The Journal of Experimental Medicine. Apr, 2008  |   Pubmed ID: 18362173
• Multiple Thoracic Aortic Aneurysms After Mediastinitis in an Infant After Repair of Coarctation of the Aorta
  The Journal of Thoracic and Cardiovascular Surgery. Feb, 2008  |   Pubmed ID: 18242288
• Gain-of-function RAF1 Mutations Cause Noonan and LEOPARD Syndromes with Hypertrophic Cardiomyopathy
  Nature Genetics. Aug, 2007  |   Pubmed ID: 17603483
• Base Genetica Per Cardiopatie Congenite: Conoscenze Attuali: Un'istruzione Scientifica Da American Heart Associazione Congenita Cardiaca Difetti Committee, Consiglio Sulla Malattia Cardiovascolare Nei Giovani: Approvato Dalla American Academy of Pediatrics
  Circulation. Jun, 2007  |   Pubmed ID: 17519398
• The Genetics of Congenital Heart Disease: a Review of Recent Developments
  Current Opinion in Cardiology. May, 2007  |   Pubmed ID: 17413276
• Novel Functional Interaction Between Na+/H+ Exchanger 1 and Tyrosine Phosphatase SHP-2
  American Journal of Physiology. Regulatory, Integrative and Comparative Physiology. Jun, 2007  |   Pubmed ID: 17289818
• Gain-of-function SOS1 Mutations Cause a Distinctive Form of Noonan Syndrome
  Nature Genetics. Jan, 2007  |   Pubmed ID: 17143282
• Diversity, Parental Germline Origin, and Phenotypic Spectrum of De Novo HRAS Missense Changes in Costello Syndrome
  Human Mutation. Mar, 2007  |   Pubmed ID: 17054105
• Evaluation of Pulmonary Artery Banding in the Setting of Ventricular Septal Defects and Severely Elevated Pulmonary Vascular Resistance
  Congenital Heart Disease. Sep, 2006  |   Pubmed ID: 18377533
• Neonatal Marfan Syndrome : in Utero Presentation with Aortic and Pulmonary Artery Dilatation and Successful Repair of an Acute Flail Mitral Valve Leaflet in Infancy
  Pediatric Cardiology. Nov-Dec, 2006  |   Pubmed ID: 17091324
• Noonan Syndrome and Related Disorders: Dysregulated RAS-mitogen Activated Protein Kinase Signal Transduction
  Human Molecular Genetics. Oct, 2006  |   Pubmed ID: 16987887
• Marfan's Syndrome and Related Disorders--more Tightly Connected Than We Thought
  The New England Journal of Medicine. Aug, 2006  |   Pubmed ID: 16929000
• Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype
  American Journal of Human Genetics. Jul, 2006  |   Pubmed ID: 16773572
• Mice Lacking Cathepsin K Maintain Bone Remodeling but Develop Bone Fragility Despite High Bone Mass
  Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research. Jun, 2006  |   Pubmed ID: 16753017
• Transgenic Drosophila Models of Noonan Syndrome Causing PTPN11 Gain-of-function Mutations
  Human Molecular Genetics. Feb, 2006  |   Pubmed ID: 16399795
• Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease
  American Journal of Human Genetics. Feb, 2006  |   Pubmed ID: 16358218
• Parents and Clinicians Underestimate Distress and Depression in Children Who Had a Transplant
  Pediatric Transplantation. Oct, 2005  |   Pubmed ID: 16176429
• Noonan Syndrome and Related Disorders: Genetics and Pathogenesis
  Annual Review of Genomics and Human Genetics. 2005  |   Pubmed ID: 16124853
• Germ-line and Somatic PTPN11 Mutations in Human Disease
  European Journal of Medical Genetics. Apr-Jun, 2005  |   Pubmed ID: 16053901
• Neurofibromatosis-Noonan Syndrome: Molecular Evidence of the Concurrence of Both Disorders in a Patient
  American Journal of Medical Genetics. Part A. Jul, 2005  |   Pubmed ID: 15948193
• The Mutational Spectrum of PTPN11 in Juvenile Myelomonocytic Leukemia and Noonan Syndrome/myeloproliferative Disease
  Blood. Sep, 2005  |   Pubmed ID: 15928039
• Comparison of Parent and Child Reports of Emotional Trauma Symptoms in Pediatric Outpatient Settings
  Pediatrics. May, 2005  |   Pubmed ID: 15867023
• Paternal Germline Origin and Sex-ratio Distortion in Transmission of PTPN11 Mutations in Noonan Syndrome
  American Journal of Human Genetics. Sep, 2004  |   Pubmed ID: 15248152
• Genetic Basis of Congenital Heart Disease
  Current Opinion in Cardiology. Mar, 2004  |   Pubmed ID: 15075735
• Decreased Bone Turnover and Deterioration of Bone Structure in Two Cases of Pycnodysostosis
  The Journal of Clinical Endocrinology and Metabolism. Apr, 2004  |   Pubmed ID: 15070910
• Genetic Evidence for Lineage-related and Differentiation Stage-related Contribution of Somatic PTPN11 Mutations to Leukemogenesis in Childhood Acute Leukemia
  Blood. Jul, 2004  |   Pubmed ID: 14982869
• Noonan Syndrome-associated SHP2/PTPN11 Mutants Cause EGF-dependent Prolonged GAB1 Binding and Sustained ERK2/MAPK1 Activation
  Human Mutation. Mar, 2004  |   Pubmed ID: 14974085
• Male Infertility Due to Germ Cell Apoptosis in Mice Lacking the Thiamin Carrier, Tht1. A New Insight into the Critical Role of Thiamin in Spermatogenesis
  Developmental Biology. Feb, 2004  |   Pubmed ID: 14738878
• Transcription Factor Ap-2alpha is Necessary for Development of Embryonic Melanophores, Autonomic Neurons and Pharyngeal Skeleton in Zebrafish
  Developmental Biology. Jan, 2004  |   Pubmed ID: 14697367
• Thiamine Pyrophosphate: an Essential Cofactor in the Mammalian Metabolism of 3-methyl-branched Fatty Acids--implications for Thiamine Deficiencies?
  Advances in Experimental Medicine and Biology. 2003  |   Pubmed ID: 14713245
• A Trial of Vitamin A Therapy to Facilitate Ductal Closure in Premature Infants
  The Journal of Pediatrics. Nov, 2003  |   Pubmed ID: 14615738
• Somatic Mutations in PTPN11 in Juvenile Myelomonocytic Leukemia, Myelodysplastic Syndromes and Acute Myeloid Leukemia
  Nature Genetics. Jun, 2003  |   Pubmed ID: 12717436
• Expression of Tfap2d, the Gene Encoding the Transcription Factor Ap-2 Delta, During Mouse Embryogenesis
  Gene Expression Patterns : GEP. May, 2003  |   Pubmed ID: 12711551
• Targeted Disruption of Slc19a2, the Gene Encoding the High-affinity Thiamin Transporter Thtr-1, Causes Diabetes Mellitus, Sensorineural Deafness and Megaloblastosis in Mice
  Human Molecular Genetics. Nov, 2002  |   Pubmed ID: 12393806
• Mutation of TBCE Causes Hypoparathyroidism-retardation-dysmorphism and Autosomal Recessive Kenny-Caffey Syndrome
  Nature Genetics. Nov, 2002  |   Pubmed ID: 12389028
• Absence of PTPN11 Mutations in 28 Cases of Cardiofaciocutaneous (CFC) Syndrome
  Human Genetics. Oct, 2002  |   Pubmed ID: 12384786
• Collagenase Activity of Cathepsin K Depends on Complex Formation with Chondroitin Sulfate
  The Journal of Biological Chemistry. Aug, 2002  |   Pubmed ID: 12039963
• PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-phenotype Correlation, and Phenotypic Heterogeneity
  American Journal of Human Genetics. Jun, 2002  |   Pubmed ID: 11992261