Bruce D. Gelb

The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai

Affiliated withIcahn School of Medicine at Mount Sinai Icahn School of Medicine at Mount Sinai

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 16	2016

Other Publications

Article	Year
A trial of vitamin A therapy to facilitate ductal closure in premature infants. The Journal of pediatrics\| PubMed ID: 14615738	2003
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. American journal of human genetics\| PubMed ID: 11992261	2002
Collagenase activity of cathepsin K depends on complex formation with chondroitin sulfate. The Journal of biological chemistry\| PubMed ID: 12039963	2002
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome. Human genetics\| PubMed ID: 12384786	2002
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nature genetics\| PubMed ID: 12389028	2002
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\| PubMed ID: 12393806	2002
Expression of Tfap2d, the gene encoding the transcription factor Ap-2 delta, during mouse embryogenesis. Gene expression patterns : GEP\| PubMed ID: 12711551	2003
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nature genetics\| PubMed ID: 12717436	2003
Transcription factor Ap-2alpha is necessary for development of embryonic melanophores, autonomic neurons and pharyngeal skeleton in zebrafish. Developmental biology\| PubMed ID: 14697367	2004
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\| PubMed ID: 14713245	2003
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\| PubMed ID: 14738878	2004
Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. Human mutation\| PubMed ID: 14974085	2004
Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia. Blood\| PubMed ID: 14982869	2004
Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis. The Journal of clinical endocrinology and metabolism\| PubMed ID: 15070910	2004
Genetic basis of congenital heart disease. Current opinion in cardiology\| PubMed ID: 15075735	2004
Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. American journal of human genetics\| PubMed ID: 15248152	2004
Comparison of parent and child reports of emotional trauma symptoms in pediatric outpatient settings. Pediatrics\| PubMed ID: 15867023	2005
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. Blood\| PubMed ID: 15928039	2005
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. American journal of medical genetics. Part A\| PubMed ID: 15948193	2005
Germ-line and somatic PTPN11 mutations in human disease. European journal of medical genetics\| PubMed ID: 16053901	2005
Noonan syndrome and related disorders: genetics and pathogenesis. Annual review of genomics and human genetics\| PubMed ID: 16124853	2005
Parents and clinicians underestimate distress and depression in children who had a transplant. Pediatric transplantation\| PubMed ID: 16176429	2005
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. American journal of human genetics\| PubMed ID: 16358218	2006
Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations. Human molecular genetics\| PubMed ID: 16399795	2006
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\| PubMed ID: 16753017	2006
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. American journal of human genetics\| PubMed ID: 16773572	2006
Marfan's syndrome and related disorders--more tightly connected than we thought. The New England journal of medicine\| PubMed ID: 16929000	2006
Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction. Human molecular genetics\| PubMed ID: 16987887	2006
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Human mutation\| PubMed ID: 17054105	2007
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\| PubMed ID: 17091324	2006
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nature genetics\| PubMed ID: 17143282	2007
Novel functional interaction between Na+/H+ exchanger 1 and tyrosine phosphatase SHP-2. American journal of physiology. Regulatory, integrative and comparative physiology\| PubMed ID: 17289818	2007
The genetics of congenital heart disease: a review of recent developments. Current opinion in cardiology\| PubMed ID: 17413276	2007
Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Dise... Circulation\| PubMed ID: 17519398	2007
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nature genetics\| PubMed ID: 17603483	2007
Multiple thoracic aortic aneurysms after mediastinitis in an infant after repair of coarctation of the aorta. The Journal of thoracic and cardiovascular surgery\| PubMed ID: 18242288	2008
Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia. The Journal of experimental medicine\| PubMed ID: 18362173	2008
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\| PubMed ID: 18372317	2008
Evaluation of pulmonary artery banding in the setting of ventricular septal defects and severely elevated pulmonary vascular resistance. Congenital heart disease\| PubMed ID: 18377533	2006
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\| PubMed ID: 18495928	2008
Deficiency and inhibition of cathepsin K reduce body weight gain and increase glucose metabolism in mice. Arteriosclerosis, thrombosis, and vascular biology\| PubMed ID: 18818416	2008
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development. Human molecular genetics\| PubMed ID: 18849586	2009
Ablation of cathepsin k activity in the young mouse causes hypermineralization of long bone and growth plates. Calcified tissue international\| PubMed ID: 19172215	2009
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Human mutation\| PubMed ID: 19206169	2009
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nature genetics\| PubMed ID: 19684605	2009
The phosphatase SHP2 regulates the spacing effect for long-term memory induction. Cell\| PubMed ID: 19804763	2009
A restricted spectrum of NRAS mutations causes Noonan syndrome. Nature genetics\| PubMed ID: 19966803	2010
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. American journal of medical genetics. Part A\| PubMed ID: 20014119	2010
Fgfr3 is a transcriptional target of Ap2delta and Ash2l-containing histone methyltransferase complexes. PloS one\| PubMed ID: 20046871	2009
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. Human mutation\| PubMed ID: 20437614	2010
Ash2l interacts with Tbx1 and is required during early embryogenesis. Experimental biology and medicine (Maywood, N.J.)\| PubMed ID: 20463296	2010
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. Nature\| PubMed ID: 20535210	2010
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. American journal of human genetics\| PubMed ID: 20619386	2010
Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans. American journal of human genetics\| PubMed ID: 20826270	2010
Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics\| PubMed ID: 20876176	2010
Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms. Annals of the New York Academy of Sciences\| PubMed ID: 20958325	2010
RAS signaling pathway mutations and hypertrophic cardiomyopathy: getting into and out of the thick of it. The Journal of clinical investigation\| PubMed ID: 21339640	2011
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. Human mutation\| PubMed ID: 21387466	2011
Noonan syndrome and clinically related disorders. Best practice & research. Clinical endocrinology & metabolism\| PubMed ID: 21396583	2011
Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromes. Journal of molecular and cellular cardiology\| PubMed ID: 21440552	2011
Induced pluripotent stem cell-derived cardiomyocytes as models for genetic cardiovascular disorders. Current opinion in cardiology\| PubMed ID: 21451408	2011
Cathepsin K deficiency reduces elastase perfusion-induced abdominal aortic aneurysms in mice. Arteriosclerosis, thrombosis, and vascular biology\| PubMed ID: 21817099	2012
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. American journal of human genetics\| PubMed ID: 22243968	2012
Role of copy number variants in structural birth defects. Pediatrics\| PubMed ID: 22430448	2012
Signaling to cardiac hypertrophy: insights from human and mouse RASopathies. Molecular medicine (Cambridge, Mass.)\| PubMed ID: 22576369	2012
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 synd... The Journal of biological chemistry\| PubMed ID: 22711529	2012
The Good SHP2 Association: a porthole into the genetics of congenital heart disease. Circulation. Cardiovascular genetics\| PubMed ID: 22715277	2012
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\| PubMed ID: 22728731	2012
Regulation of embryonic and induced pluripotency by aurora kinase-p53 signaling. Cell stem cell\| PubMed ID: 22862944	2012
Noonan syndrome. Lancet (London, England)\| PubMed ID: 23312968	2013
Genetics of congenital heart disease: the glass half empty. Circulation research\| PubMed ID: 23410880	2013
Economic and safety implications of introducing fast tracking in congenital heart surgery. Circulation. Cardiovascular quality and outcomes\| PubMed ID: 23443672	2013
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\| PubMed ID: 23622922	2013
De novo mutations in histone-modifying genes in congenital heart disease. Nature\| PubMed ID: 23665959	2013
Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection. American journal of human genetics\| PubMed ID: 23726368	2013
MiST: a new approach to variant detection in deep sequencing datasets. Nucleic acids research\| PubMed ID: 23828039	2013
Recent advances in understanding the genetics of congenital heart defects. Current opinion in pediatrics\| PubMed ID: 23995429	2013
Effect of copy number variants on outcomes for infants with single ventricle heart defects. Circulation. Cardiovascular genetics\| PubMed ID: 24021551	2013
Frequency of aortic dilation in Noonan syndrome. The American journal of cardiology\| PubMed ID: 24220280	2014
Concise review: drug discovery in the age of the induced pluripotent stem cell. Stem cells translational medicine\| PubMed ID: 24493856	2014
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis. Human molecular genetics\| PubMed ID: 24705357	2014
RAF1 mutations in childhood-onset dilated cardiomyopathy. Nature genetics\| PubMed ID: 24777450	2014
A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. American journal of medical genetics. Part A\| PubMed ID: 24891296	2014
New mechanistic and therapeutic targets for pediatric heart failure: report from a National Heart, Lung, and Blood Institute working group. Circulation\| PubMed ID: 24982119	2014
Complex genetics and the etiology of human congenital heart disease. Cold Spring Harbor perspectives in medicine\| PubMed ID: 24985128	2014
Identification and purification of human induced pluripotent stem cell-derived atrial-like cardiomyocytes based on sarcolipin expression. PloS one\| PubMed ID: 25010565	2014
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\| PubMed ID: 25016920	2015
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\| PubMed ID: 25205790	2014
Practical guidance on informed consent for pediatric participants in a biorepository. Mayo Clinic proceedings\| PubMed ID: 25264176	2014
Atenolol versus losartan in children and young adults with Marfan's syndrome. The New England journal of medicine\| PubMed ID: 25405392	2014
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\| PubMed ID: 25561044	2015
MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus. Human molecular genetics\| PubMed ID: 25574029	2015
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\| PubMed ID: 25708222	2015
The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approach. American journal of medical genetics. Part A\| PubMed ID: 25900621	2015
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations. Human mutation\| PubMed ID: 25952305	2015
History of Our Understanding of the Causes of Congenital Heart Disease. Circulation. Cardiovascular genetics\| PubMed ID: 26082554	2015
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Human mutation\| PubMed ID: 26173643	2015
Cardiomyopathies in Noonan syndrome and the other RASopathies. Progress in pediatric cardiology\| PubMed ID: 26380542	2015
Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic Leukemia. Cell reports\| PubMed ID: 26456833	2015
When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority. The Journal of pediatrics\| PubMed ID: 26477867	2016
Human Engineered Cardiac Tissues Created Using Induced Pluripotent Stem Cells Reveal Functional Characteristics of BRAF-Mediated Hypertrophic Cardiomyopathy. PloS one\| PubMed ID: 26784941	2016
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science (New York, N.Y.)\| PubMed ID: 26785492	2015
Genetics of congenital heart disease. Current opinion in cardiology\| PubMed ID: 26872209	2016