Bruce D. Gelb

Q: What Schools Are Affiliated With Bruce D. Gelb

Bruce D. Gelb is affiliated with the following schools: Yale University, Icahn School of Medicine at Mount Sinai, Amherst College, Baylor College of Medicine, Columbia University, Harvard University

Bruce D. Gelb's AcademicInfluence.com Rankings

Bruce D. Gelb

Law

#2460

World Rank

#3062

Historical Rank

Common Law

#98

World Rank

#107

Historical Rank

International Law

#531

World Rank

#666

Historical Rank

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Bruce D. Gelb's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome (2001) (1563)
Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency (1996) (974)
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia (2003) (955)
Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. (2007) (781)
De novo mutations in histone modifying genes in congenital heart disease (2013) (740)
Patient-specific induced pluripotent stem cell derived models of LEOPARD syndrome (2010) (704)
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. (2002) (696)
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy (2007) (615)
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome (2006) (561)
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies (2015) (544)
Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines (2010) (511)
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands (2017) (505)
Genetics of congenital heart disease: the glass half empty. (2013) (497)
X‐Linked Dilated Cardiomyopathy Molecular Genetic Evidence of Linkage to the Duchenne Muscular Dystrophy (Dystrophin) Gene at the Xp21 Locus (1993) (480)
Atenolol versus losartan in children and young adults with Marfan's syndrome. (2014) (418)
Acute Myocarditis Rapid Diagnosis by PCR in Children (1994) (388)
Matching Advertising Appeals to Culture: The Influence of Products' Use Conditions (1996) (366)
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. (2006) (348)
Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia (2008) (344)
Noonan syndrome and related disorders: genetics and pathogenesis. (2005) (325)
Post-Purchase Consumer Processes and the Complaining Consumer (1982) (325)
Noonan syndrome and clinically related disorders. (2011) (315)
Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia. (2004) (294)
Genetics of peanut allergy: a twin study. (2000) (286)
A restricted spectrum of NRAS mutations causes Noonan syndrome (2010) (279)
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. (2018) (263)
Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus (2000) (260)
Mapping Systemic Inflammation and Antibody Responses in Multisystem Inflammatory Syndrome in Children (MIS-C) (2020) (258)
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum (2009) (258)
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair (2009) (254)
Mapping Systemic Inflammation and Antibody Responses in Multisystem Inflammatory Syndrome in Children (MIS-C) (2020) (252)
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. (2005) (234)
X‐Linked Dilated Cardiomyopathy Molecular Genetic Evidence of Linkage to the Duchenne Muscular Dystrophy (Dystrophin) Gene at the Xp21 Locus (1987) (233)
Mutation in SHOC2 promotes aberrant protein N-myristoylation and underlies Noonan-like syndrome with loose anagen hair (2009) (226)
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. (2010) (219)
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. (2006) (218)
Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome (1999) (205)
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. (1999) (204)
Noonan syndrome–associated SHP2/PTPN11 mutants cause EGF‐dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation (2004) (200)
Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction. (2006) (199)
Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data (2014) (197)
WHIM syndrome, an autosomal dominant disorder: clinical, hematological, and molecular studies. (2000) (189)
Mutation of TBCE causes hypoparathyroidism–retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome (2002) (180)
Disorders of dysregulated signal traffic through the RAS‐MAPK pathway: phenotypic spectrum and molecular mechanisms (2010) (168)
Collagenase Activity of Cathepsin K Depends on Complex Formation with Chondroitin Sulfate* (2002) (166)
Distinct epigenetic programs regulate cardiac myocyte development and disease in the human heart in vivo (2017) (156)
Cloning and Characterization of a Novel Mouse AP-2 Transcription Factor, Ap-2δ, with Unique DNA Binding and Transactivation Properties* (2001) (156)
Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis. (1999) (141)
Determination of Bone Markers in Pycnodysostosis: Effects of Cathepsin K Deficiency on Bone Matrix Degradation (1999) (140)
The Phosphatase SHP2 Regulates the Spacing Effect for Long-Term Memory Induction (2009) (137)
Regulation of embryonic and induced pluripotency by aurora kinase-p53 signaling. (2012) (134)
Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis. (2004) (133)
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome (2007) (129)
Word-of-mouth communication: causes and consequences. (1995) (128)
Germ-line and somatic PTPN11 mutations in human disease. (2005) (126)
Complex genetics and the etiology of human congenital heart disease. (2014) (126)
Comparison of Parent and Child Reports of Emotional Trauma Symptoms in Pediatric Outpatient Settings (2005) (125)
Mice Lacking Cathepsin K Maintain Bone Remodeling but Develop Bone Fragility Despite High Bone Mass (2006) (124)
The Congenital Heart Disease Genetic Network Study: Rationale, Design, and Early Results (2013) (121)
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis (2014) (120)
Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G). (1994) (120)
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. (2018) (117)
Attitude-Toward-the-AD: Links to Humor and to Advertising Effectiveness (1983) (117)
ClinGen’s RASopathy Expert Panel Consensus Methods for Variant Interpretation (2018) (112)
Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation. (2001) (110)
Beefcake and Cheesecake: Insights for Advertisers (1998) (109)
Humor and Advertising Effectiveness after Repeated Exposures to a Radio Commercial (1986) (106)
Jagged1 (JAG1) mutations in patients with tetralogy of fallot or pulmonic stenosis (2010) (105)
SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype–Phenotype Correlations (2011) (100)
Cathepsin K Deficiency Reduces Elastase Perfusion–Induced Abdominal Aortic Aneurysms in Mice (2012) (97)
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back (2010) (94)
Enabling Technologies for Personalized and Precision Medicine. (2020) (94)
Deficiency and Inhibition of Cathepsin K Reduce Body Weight Gain and Increase Glucose Metabolism in Mice (2008) (92)
Genetic Basis for Congenital Heart Defects: Current Knowledge (2007) (91)
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations. (2018) (91)
Impact of the Reduced Folate Carrier on the Accumulation of Active Thiamin Metabolites in Murine Leukemia Cells* (2001) (90)
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects (2016) (90)
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development. (2009) (89)
Cathepsin K Deficiency in Pycnodysostosis Results in Accumulation of Non-Digested Phagocytosed Collagen in Fibroblasts (2003) (89)
Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping (1995) (88)
Effect of Copy Number Variants on Outcomes for Infants With Single Ventricle Heart Defects (2013) (88)
Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis. (2017) (88)
Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. (2004) (88)
Marfan's syndrome and related disorders--more tightly connected than we thought. (2006) (87)
MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus (2015) (86)
Transcription factor Ap-2alpha is necessary for development of embryonic melanophores, autonomic neurons and pharyngeal skeleton in zebrafish. (2004) (86)
Cardiomyopathies in Noonan syndrome and the other RASopathies. (2015) (86)
Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome. (1998) (85)
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. (2012) (80)
Ash2l interacts with Tbx1 and is required during early embryogenesis (2010) (79)
Neurofibromatosis–Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient (2005) (78)
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. (2008) (77)
Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations. (2006) (76)
Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice. (2002) (76)
Human Engineered Cardiac Tissues Created Using Induced Pluripotent Stem Cells Reveal Functional Characteristics of BRAF-Mediated Hypertrophic Cardiomyopathy (2016) (72)
Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans. (2010) (72)
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome (2015) (71)
Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome (2005) (70)
The Congenital Heart Disease Genetic Network Study: Cohort description (2018) (69)
Concise Review: Drug Discovery in the Age of the Induced Pluripotent Stem Cell (2014) (69)
Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2017) (68)
Identification of rare de novo epigenetic variations in congenital disorders (2018) (68)
Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations. (2000) (68)
RAF1 mutations in childhood-onset dilated cardiomyopathy (2014) (67)
Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition. (2019) (67)
Genomic analyses implicate noncoding de novo variants in congenital heart disease (2020) (66)
Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic Leukemia. (2015) (66)
Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21. (1999) (63)
Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework (2018) (61)
Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy. (2013) (60)
The genetics of congenital heart disease: a review of recent developments (2007) (58)
Noonan syndrome (2013) (57)
RAS signaling pathway mutations and hypertrophic cardiomyopathy: getting into and out of the thick of it. (2011) (56)
Expression of Tfap2d, the gene encoding the transcription factor Ap-2 delta, during mouse embryogenesis. (2003) (56)
The Effect of Repetition on Humor in a Radio Advertising Study (1985) (55)
Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment (2020) (51)
Genetic basis of congenital heart disease (2004) (50)
Role of Copy Number Variants in Structural Birth Defects (2012) (50)
Loss of RNA expression and allele-specific expression associated with congenital heart disease (2016) (49)
New Mechanistic and Therapeutic Targets for Pediatric Heart Failure: Report From a National Heart, Lung, and Blood Institute Working Group (2014) (49)
Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: Palliative treatment with a rapamycin analog (2015) (48)
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome (2002) (47)
Transcription factor Ap2δ associates with Ash2l and ALR, a trithorax family histone methyltransferase, to activate Hoxc8 transcription (2008) (47)
Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection. (2013) (46)
Negative Comparative Advertising: Evidence Favoring Fine-Tuning (2000) (45)
Molecular genetics of congenital heart disease. (1997) (44)
Employee Contributions to Brand Equity (2014) (43)
Identification and Purification of Human Induced Pluripotent Stem Cell-Derived Atrial-Like Cardiomyocytes Based on Sarcolipin Expression (2014) (43)
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes (2019) (43)
Basic concepts and potential applications of genetics and genomics for cardiovascular and stroke clinicians: a scientific statement from the American Heart Association. (2015) (41)
San Luis Valley recombinant chromosome 8 and tetralogy of Fallot: a review of chromosome 8 anomalies and congenital heart disease. (1991) (40)
Signaling to Cardiac Hypertrophy: Insights from Human and Mouse RASopathies (2012) (40)
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome (2017) (40)
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum. (2020) (39)
Somatically acquired JAK 1 mutations in adult acute lymphoblastic leukemia " (2008) (38)
Malignant fibrous histiocytoma: Inherited and sporadic forms have loss of heterozygosity at chromosome bands 9p21–22—evidence for a common genetic defect (2000) (38)
Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement. (1999) (38)
Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function (2020) (38)
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis (2019) (38)
Neurologic complications of heart transplantation in children. (1992) (38)
Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies. (2018) (37)
Economic and Safety Implications of Introducing Fast Tracking in Congenital Heart Surgery (2013) (37)
Genetics of congenital heart disease (2016) (37)
Advancing RAS/RASopathy therapies: An NCI‐sponsored intramural and extramural collaboration for the study of RASopathies (2019) (36)
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations (2015) (35)
Communications Effects of Specific Advertising Elements: An Update (1985) (34)
Induced pluripotent stem cell-derived cardiomyocytes as models for genetic cardiovascular disorders (2011) (34)
The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43. (1998) (34)
Robust identification of mosaic variants in congenital heart disease (2018) (34)
Downregulation of exhausted cytotoxic T cells in gene expression networks of multisystem inflammatory syndrome in children (2021) (33)
Clinical implications and possible association of malposition of the branch pulmonary arteries with DiGeorge syndrome and microdeletion of chromosomal region 22q11. (1997) (31)
Practical guidance on informed consent for pediatric participants in a biorepository. (2014) (30)
Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes (2014) (29)
Novel functional interaction between Na+/H+ exchanger 1 and tyrosine phosphatase SHP-2. (2007) (29)
1854 X-Linked Dilated Cardiomyopathy Molecular Genetic Evidence of Linkage to the Duchenne Muscular Dystrophy ( Dystrophin ) Gene at the Xp 21 Locus (2005) (29)
Noonan syndrome with multiple lentigines (2015) (28)
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway (2016) (28)
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. (2004) (28)
Ablation of Cathepsin K Activity in the Young Mouse Causes Hypermineralization of Long Bone and Growth Plates (2009) (28)
De novo variants in exomes of congenital heart disease patients identify risk genes and pathways (2020) (27)
History of Our Understanding of the Causes of Congenital Heart Disease. (2015) (27)
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies (2019) (27)
A trial of vitamin A therapy to facilitate ductal closure in premature infants. (2003) (27)
Myopathic Cardiac Genotypes Increase Risk for Myocarditis (2021) (27)
Thiamine pyrophosphate: An essential cofactor for the α-oxidation in mammals – implications for thiamine deficiencies? (2006) (26)
The sixth international RASopathies symposium: Precision medicine—From promise to practice (2019) (25)
The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research. (2019) (25)
Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study. (2021) (25)
Creating "memes" while creating advertising (1997) (24)
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability (2018) (24)
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*♦ (2012) (24)
Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromes. (2011) (23)
Genetic basis of syndromes associated with congenital heart disease. (2001) (23)
Measuring Brand Meaning (2000) (23)
Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease (2020) (23)
Slc19a2: cloning and characterization of the murine thiamin transporter cDNA and genomic sequence, the orthologue of the human TRMA gene. (2001) (22)
GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm (2020) (22)
Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility (2019) (22)
Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome (2021) (21)
Sampling the host response to SARS-CoV-2 in hospitals under siege (2020) (21)
Frequency of aortic dilation in Noonan syndrome. (2014) (20)
Recent advances in understanding the genetics of congenital heart defects (2013) (20)
The IBD1 locus for susceptibility to Crohn's disease has a greater impact in Ashkenazi Jews with early onset disease (2001) (20)
Noninvasive discrimination of right atrial ectopic tachycardia from sinus tachycardia in "dilated cardiomyopathy". (1990) (20)
Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association (2021) (20)
Health‐Related Quality of Life in Children and Young Adults with Marfan Syndrome (2019) (20)
De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease (2020) (19)
Fgfr3 Is a Transcriptional Target of Ap2δ and Ash2l-Containing Histone Methyltransferase Complexes (2009) (19)
Cathepsin K Deficiency Ameliorates Systemic Lupus Erythematosus-like Manifestations in Faslpr Mice (2017) (18)
SHOC2 subcellular shuttling requires the KEKE motif-rich region and N-terminal leucine-rich repeat domain and impacts on ERK signalling. (2016) (18)
Parents and clinicians underestimate distress and depression in children who had a transplant (2005) (18)
The Effect of Promotional Techniques on Purchase of Preventive Dental Care (1979) (17)
When marketing practices raise antitrust concerns (2005) (17)
Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23. (1999) (17)
MATR 3 disruption in human and mouse associated with bicuspid aortic valve , aortic coarctation and patent ductus arteriosus (2015) (17)
Char syndrome: an additional family with polythelia, a new finding. (2000) (17)
Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles (2020) (16)
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype. (2021) (16)
Pycnodysostosis: refined linkage and radiation hybrid analyses reduce the critical region to 2 cM at 1q21 and map two candidate genes (1996) (16)
Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed (2022) (15)
A Genotype-First Approach to Exploring Mendelian Cardiovascular Traits with Clear External Manifestations (2020) (14)
GUÍA: a digital platform to facilitate result disclosure in genetic counseling (2020) (14)
Neonatal Marfan Syndrome (2006) (14)
Neonatal Marfan syndrome : in utero presentation with aortic and pulmonary artery dilatation and successful repair of an acute flail mitral valve leaflet in infancy. (2006) (14)
Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency (2021) (14)
Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management. (2021) (14)
When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority. (2016) (13)
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease (2020) (13)
Randomized trial of atenolol versus losartan in children and young adults with Marfan syndrome (2014) (13)
A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype (2014) (13)
The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children (2020) (13)
Evaluation of pulmonary artery banding in the setting of ventricular septal defects and severely elevated pulmonary vascular resistance. (2006) (12)
Pediatric cardiac retransplantation: Waitlist mortality stratified by age and era. (2014) (12)
Repetition, Social Settings, Perceived Humor, and Wearout (1990) (12)
DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients (2020) (12)
Cytotoxic lymphocytes are dysregulated in multisystem inflammatory syndrome in children (2020) (12)
Headaches in hypermobility syndromes: A pain in the neck? (2020) (12)
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leykemia (2003) (12)
The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach (2015) (11)
Transcatheter closure of residual atrial septal defect following cardiac transplantation. (1993) (11)
Construction of Defined Human Engineered Cardiac Tissues to Study Mechanisms of Cardiac Cell Therapy. (2016) (11)
Prevalence of additional cardiovascular anomalies in patients referred for transcatheter closure of patent ductus arteriosus. (1990) (11)
The Spacing Effect for Structural Synaptic Plasticity Provides Specificity and Precision in Plastic Changes (2017) (10)
Predictors of Rapid Aortic Root Dilation and Referral for Aortic Surgery in Marfan Syndrome (2016) (10)
MiST: A new approach to variant detection in deep sequencing datasets (2013) (10)
Attorney Advertising and Changes in the Demand for Wills (1993) (9)
Usefulness of tacrolimus versus cyclosporine after pediatric heart transplantation. (1998) (9)
Transcription factor protein interactomes reveal genetic determinants in heart disease (2022) (9)
Recent advances in the understanding of genetic causes of congenital heart defects. (1998) (9)
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. (2020) (9)
Proteomic Analysis of an Induced Pluripotent Stem Cell Model Reveals Strategies to Treat Juvenile Myelomonocytic Leukemia (2019) (8)
Whole Genome De Novo Variant Identification with FreeBayes and Neural Network Approaches (2020) (8)
Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis (2021) (8)
De novo mutations in Congenital Heart Disease with Neurodevelopmental and Other Birth Defects (2016) (8)
Localization of the Thiamine-Responsive Megaloblastic Anemia Syndrome Locus to a 1.4-cM Region of 1q23 (1999) (8)
Nonpulsatile total left ventricular support in pediatric patients (1992) (8)
An APOO Pseudogene on Chromosome 5q Is Associated With Low-Density Lipoprotein Cholesterol Levels (2018) (7)
Molecular Genetics of Noonan Syndrome (2009) (7)
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort (2022) (7)
MEK Inhibitors for Neurofibromatosis Type 1 Manifestations: Clinical Evidence and Consensus. (2022) (7)
The Phosphatase CSW Controls Life Span by Insulin Signaling and Metabolism Throughout Adult Life in Drosophila (2020) (7)
Proceedings of the fifth international RASopathies symposium: When development and cancer intersect (2018) (7)
HUMOR AND ADVERTISING EFFECTIVENESS REEXAMINED (1987) (7)
Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children with asthma. (2019) (6)
“No-name” products: A step towards “no-name” retailing? (1980) (6)
Pseudoconduction of atrial flutter of a recipient atrium. (1991) (6)
Drosophila RASopathy models identify disease subtype differences and biomarkers of drug efficacy (2020) (6)
The effects of HLA mismatching and immunosuppressive therapy on early rejection outcome in pediatric heart transplant recipients. (1998) (6)
Preventive medicine and employee productivity. (1985) (6)
ORE identifies extreme expression effects enriched for rare variants (2019) (6)
Service marketing lessons from the professionals (1988) (6)
Hope versus reality: Parent expectations of genomic testing. (2021) (6)
Reducing reluctance to transfer (1987) (5)
Mutations in the protein tyrosine kinase gene, PTPN11, cause Noonan syndrome (2001) (5)
The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery (2022) (5)
Molecular states during acute COVID-19 reveal distinct etiologies of long-term sequelae (2022) (5)
Burden of Cardiomyopathic Genetic Variation in Lethal Pediatric Myocarditis (2021) (5)
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis (2019) (5)
Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects (2020) (5)
Another look at motivating – and retaining – salespeople (2019) (4)
Cardiovascular manifestations of hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders (2022) (4)
Variants in ADRB1 and CYP2C9: Association with Response to Atenolol and Losartan in Marfan Syndrome. (2020) (4)
The IBD1 locus for susceptibility to Crohn’s disease has a greater impact in Ashkenazi Jews with early onset disease (2001) (4)
Strategic planning for the under-dog (1982) (4)
Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors (2017) (4)
Can prevention be marketed profitably? (1995) (4)
Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Transcriptional and Biochemical Function (2019) (4)
“Is that something that should concern me?”: a qualitative exploration of parent understanding of their child’s genomic test results (2021) (4)
Turnaround Success in High Technology Growth Stage Firms (2017) (4)
Genetic Discovery for Congenital Heart Defects (2016) (4)
The Good SHP2 Association: a porthole into the genetics of congenital heart disease. (2012) (4)
Thiamine pyrophosphate: an essential cofactor in the mammalian metabolism of 3-methyl-branched fatty acids--implications for thiamine deficiencies? (2003) (3)
The Good SHP 2 Association : A Porthole Into the Genetics of Congenital Heart Disease (2012) (3)
Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN 11-Associated Juvenile Myelomonocytic Leukemia Graphical (2015) (3)
Early post-zygotic mutations contribute to congenital heart disease (2019) (3)
Multiple thoracic aortic aneurysms after mediastinitis in an infant after repair of coarctation of the aorta. (2008) (3)
548 Peanut allergy in Twin (2000) (3)
Dysautonomia in hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy (2021) (3)
Repeating or spacing learning sessions are strategies for memory improvement with shared molecular and neuronal components (2020) (2)
Marketing is everybody's business (1977) (2)
Perceptions of "Downsized" Employees Considering Entrepreneurship (1997) (2)
Author Correction: Sampling the host response to SARS-CoV-2 in hospitals under siege (2020) (2)
The dynamic changes and sex differences of 147 immune-related proteins during acute COVID-19 in 580 individuals (2022) (2)
The molecular genetics of RASopathies: An update on novel disease genes and new disorders (2022) (2)
Chapter 34 – Genetics of Congenital Heart Disease (2012) (2)
Alteration of myocardial structure and function in RAF1-associated Noonan syndrome: Insights from cardiac disease modeling based on patient-derived iPSCs (2022) (2)
Detection of mosaic variants using genome sequencing in a large pediatric cohort (2022) (2)
Char syndrome, a familial form of patent ductus arteriosus, with a new finding: hypoplasia [corrected] of the 3rd finger. (2012) (2)
Does greater usage of a health plan reduce satisfaction? (1991) (2)
US private payers' perspectives on insurance coverage for genome sequencing versus exome sequencing: A study by the Clinical Sequencing Evidence-Generating Research Consortium (CSER). (2021) (2)
Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity (2022) (2)
Turning volunteers into patients--and vice versa. (1994) (2)
Why rich brands get richer, and what to do about it (1992) (2)
Elucidation of de novo small insertion/deletion biology with parent‐of‐origin phasing (2020) (2)
NPSV: A simulation-driven approach to genotyping structural variants in whole-genome sequencing data (2021) (2)
Thiamine-Responsive Megaloblastic Anemia Syndrome: Clinical Aspects and Molecular Genetics (2003) (1)
Advertising to increase effectiveness of use (1998) (1)
Prospects for precision genetic medicine in congenital heart disease. (2022) (1)
Telephoned appointment-scheduling by a physician's office: does it work? (1989) (1)
Abstract 18206: Fatal Myocarditis is Associated With Rare Cardiomyopathy Gene Variants (2017) (1)
Linkage Disequilibrium Analysis of the Gaucher Disease N370S Mutation (1999) (1)
Integration of Protein Interactome Networks with Congenital Heart Disease Variants Reveals Candidate Disease Genes (2020) (1)
Getting digital statecraft right: how to use technology to promote development (2010) (1)
Malignant wide complex tachycardia after adenosine administration to a postoperative pediatric patient with congenital heart disease (2006) (1)
Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2018) (1)
Noonan Syndrome and Other RAS/MAPK Pathway Syndromes (2015) (1)
Insights for Marketing Management (1975) (1)
Noonan Syndrome and RAS Signaling Defects (2016) (1)
Author Correction: Sampling the host response to SARS-CoV-2 in hospitals under siege (2021) (1)
Research at the top : better data for organizational policy making (1975) (1)
GenomeDiver: A platform for phenotype-guided medical genomic diagnosis. (2020) (1)
Somatic PTPN11 mutations in childhood acute leukemia (2004) (1)
The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing (2023) (1)
De novo variants in exomes of congenital heart disease patients identify risk genes and pathways (2020) (1)
Abstract 16484: The Transcriptional Repressor NR1D2 is Associated With Congenital Heart Disease and Plays an Evolutionarily Conserved Role in Cardiac Development (2015) (1)
, Mingcan Aneurysms in Mice Induced Abdominal Aortic − Cathepsin K Deficiency Reduces Elastase Perfusion (2011) (1)
Choosing to retire: how companies can support and respect the decision better (2016) (1)
Affirmative Action in Housing and beyond (1973) (1)
PTPN11 Mutational Spectrum in Juvenile Myelomonocytic Leukemia and Noonan Syndrome. (2004) (1)
Assessing the Gene-Disease Association of 19 Genes with the RASopathies using the ClinGen Gene Curation Framework (2018) (1)
Erratum: Mutations in the protein tyrosine kinase gene, PTPN11, cause Noonan syndrome (Journal of Vascular Technology (2001) 29 (465-468)) (2001) (0)
Final Report: Measuring the Effects of a Unique Law Limiting Employee Medical Examinations to Job-Related Matters, April 1, 1997 - March 31, 1999 (1999) (0)
Structural variation across 138,134 samples in the TOPMed consortium (2023) (0)
Table 3. [RAF1 Pathogenic Allelic Variants of...]. (2015) (0)
Quantitative prediction of right ventricular and size and function from the electrocardiogram (2023) (0)
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease (2020) (0)
and Noonan Syndrome/myeloproliferative disease The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia (2013) (0)
Author Correction: Sampling the host response to SARS-CoV-2 in hospitals under siege (2021) (0)
Robust identification of mosaic variants in congenital heart disease (2018) (0)
Immunosuppression Following Pediatric Heart Transplantation: Cyclosporine A vs FK506 111 (1997) (0)
Getting Digital Statecraft Right (2010) (0)
Distinct epigenetic programs regulate cardiac myocyte development and disease in the human heart in vivo (2018) (0)
Table 1. [Summary of Molecular Genetic Testing Used in Char Syndrome]. (2013) (0)
Cardiovascular Disease in the Young : Statement From the American Heart Association Congenital Cardiac Defects Genetic Basis for Congenital Heart Defects : Current Knowledge : A Scientific (2007) (0)
The heart in RASopathies (2022) (0)
Challenges and Opportunities in Pediatric Heart Failure and Transplantation New Mechanistic and Therapeutic Targets for Pediatric Heart Failure a National Heart, Lung, and Blood Institute Group (2014) (0)
Novel microdeletions in the SOX5 gene in two patients with Lamb-Shaffer syndrome phenotype in the NYCKidSeq Study (2021) (0)
PYCNODYSOSTOSIS: MAPPING AND EVALUATION OF THREE CANDIDATE GENES.† 854 (1996) (0)
Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency (2022) (0)
Abstract 530: Mechanisms Underlying Phospholamban L39 Stop (PLN L39X) Cardiomyopathy (2020) (0)
Table 2. [Selected TFAP2B Allelic Variants]. (2013) (0)
Who's more critical of business: Men or women? (1978) (0)
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability (2018) (0)
Features of Vascular Ehlers-Danlos Syndrome Among Biobank Participants Harboring Predicted High-Risk COL3A1 Genotypes. (2023) (0)
Abstract 18289: Acute Myocarditis as a Presentation of Autosomal Recessive Cardiomyopathy (2016) (0)
Contribution of rare transmitted and de novo variants among 2 , 871 1 congenital heart disease probands (2017) (0)
Pycnodysostosis: Expression and Biochemical Characterization of Missense Mutations in the Cathepsin K Gene • 718 (1998) (0)
Cancer Prone Disease Section (2005) (0)
LINKS TO HUMOR AND TO ADVERTISING EFFECTIVENESS (2016) (0)
MAPK and mTOR Inhibition Improves Childhood RASopathy-Associated Hypertrophic Cardiomyopathy (2023) (0)
What university research can offer the health care marketer. (1987) (0)
New Mitochondrial Disease Identified In Monozygotic Twin Boys (2023) (0)
Table 1. [Summary of Molecular Genetic Testing Used in Noonan Syndrome with Multiple Lentigines]. (2015) (0)
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis (2019) (0)
Staying on the job after sixty-five (1979) (0)
Osteoclastic dysfunction leads to impaired mechanical adaptation of bone structure in pycnodysostosis: Tiransilical biopsy study of two patients with defined mutations within the cathepsin K gene. (2002) (0)
Pediatric Outpatient Settings Comparison of Parent and Child Reports of Emotional Trauma Symptoms in (2013) (0)
Correction to: The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children (2021) (0)
The challenge to marketing dominanceWill social responsibility be recognized (1972) (0)
Pycnodysostosis: Identification, Characterization, and Molecular Modeling of Cathepsin K Mutations • 107 (1997) (0)
AKT/mTOR and MAPK Inhibition Improves Childhood RASopathic Cardiomyopathy (2022) (0)
Table of Contents, Volume 170A, Number 8, August 2016 (2016) (0)
New prospectives on treatment opportunities in RASopathies (2022) (0)
Linkage Mapping of the Kenny-Caffey Syndrome and Evidence for Allelism with the Sanjad-Sakati Syndrome (1999) (0)
DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients (2019) (0)
Challenges and Opportunities in Pediatric Heart Failure and Transplantation 79 (2014) (0)
Pycnodysostosis Decreased Bone Turnover and Deterioration of Bone Structure in Two Cases of (2004) (0)
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations (2020) (0)
Abstract 20727: β-agonism Induces Recruitment of Diazoxide-Sensitive Katp Channels Via 14-3-3 in Human Atrial-Like Cardiomyocytes (2016) (0)
CARDIOMYOPATHIC GENE MUTATIONS ALTER ACE2 EXPRESSION AND INFECTIVITY OF SARS-COV-2 IN HUMAN INDUCED PLURIPOTENT STEM CELL-DERIVED CARDIOMYOCYTES (2021) (0)
Designing health promotion programs by watching the market. (1992) (0)
American Pediatric Society 2019 Presidential Address: striving to be a lasting blessing to the community (2019) (0)
The Hole and the Whole: Lessons from Manipulation of Nipbl Deficiency (2016) (0)
Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients (2019) (0)
Pediatric and Congenital Cardiovascular Disease Research Challenges and Opportunities: JACC Review Topic of the Week. (2022) (0)
Molecular spectrum, paternal germ-line origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome (2004) (0)
Working with your expert on trade mark surveys (2013) (0)
Deletions and mutations of MEIS2 cause a triad of palatal defects, congenital heart defects and intellectual disability (2018) (0)
ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation (2018) (0)
Dysregulated RAS signalling in Noonan syndrome and related disorders: disease gene discovery and functional studies (2010) (0)
Cost and Clinical Utility of WES and WGS in pediatric patients with suspected genetic disease (2022) (0)
Isolation, characterization, and mapping of four novel polymorphic markers and an H3.3B pseudogene to chromosome 9p21-22 (1999) (0)
From Hereditary Cancer Syndrome to Sporadic Cancer Etiology: Genetic Linkage of DMS-MFH to Chromosome 9p21-22 • 724 (1998) (0)
Identification of rare de novo epigenetic variations in congenital disorders (2018) (0)
When to advertise to consumers, and when not to. (1988) (0)
Noonan Syndrome and PTPN11 Mutations (2007) (0)
Small-Scale Research (Book) (2002) (0)
Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis (2022) (0)
Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods. (2022) (0)
Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease (2023) (0)
Genomic analyses implicate noncoding de novo variants in congenital heart disease (2020) (0)
Sensory assistance to improve your hospital. (1994) (0)
Biochemical and Structural characterization of Noonan syndrome-causing mutations affecting SHP-2’s phoshotyrosyl-binding pockets. (2007) (0)
Author response: GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm (2020) (0)
Managing with the consumer's help (1976) (0)
A de novo pathogenic BMP2 variant‐related phenotype with the novel finding of bicuspid aortic valve (2020) (0)
Char Syndrome and TFAP2B Mutations (2007) (0)
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis (2019) (0)
Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients (2020) (0)
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients (2023) (0)
Small open reading frames: a comparative genetics approach to validation (2023) (0)
A Porthole Into the Genetics of Congenital Heart Disease (2012) (0)
Char and Branchio-Oculo-Facial Syndromes: The AP-2 Transcription Factor Defects (2016) (0)
Feeder-Free Generation of Endocardial and Cardiac Valve Cells from Human Pluripotent Stem Cells (2023) (0)
leukemia of somatic PTPN11 mutations to leukemogenesis in childhood acute Genetic evidence for lineage- and differentiation stage-related contribution (2013) (0)
July 1 , 2014 Develop and Expand Registries and Databases (2014) (0)
Table 2. [Selected PTPN11 Pathogenic Allelic Variants...]. (2015) (0)
Genetic association analysis of 77,539 genomes reveals rare disease etiologies (2023) (0)
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study (2023) (0)
Table 4. [BRAF Pathogenic Allelic Variants Causing Noonan Syndrome with Multiple Lentigines]. (2015) (0)
Figure 1. [Typical facial features in a...]. (2013) (0)
Table 5. [MAP2K1 Pathogenic Allelic Variants of...]. (2015) (0)
Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes. (2023) (0)
In Memoriam: Jaqueline A. Noonan. (2020) (0)
eP067: Diagnostic yield of genome sequencing versus targeted gene panel testing in diverse pediatric patients in the NYCKidSeq study (2022) (0)

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