Bruce D. Gelb

A trial of vitamin A therapy to facilitate ductal closure in premature infants.

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

Collagenase activity of cathepsin K depends on complex formation with chondroitin sulfate.

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice.

Expression of Tfap2d, the gene encoding the transcription factor Ap-2 delta, during mouse embryogenesis.

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

Transcription factor Ap-2alpha is necessary for development of embryonic melanophores, autonomic neurons and pharyngeal skeleton in zebrafish.

Thiamine pyrophosphate: an essential cofactor in the mammalian metabolism of 3-methyl-branched fatty acids--implications for thiamine deficiencies?

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.

Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation.

Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia.

Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis.

Genetic basis of congenital heart disease.

Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.

Comparison of parent and child reports of emotional trauma symptoms in pediatric outpatient settings.

The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.

Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.

Germ-line and somatic PTPN11 mutations in human disease.

Noonan syndrome and related disorders: genetics and pathogenesis.

Parents and clinicians underestimate distress and depression in children who had a transplant.

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations.

Mice lacking cathepsin K maintain bone remodeling but develop bone fragility despite high bone mass.

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.

Marfan's syndrome and related disorders--more tightly connected than we thought.

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.

Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

Neonatal Marfan syndrome : in utero presentation with aortic and pulmonary artery dilatation and successful repair of an acute flail mitral valve leaflet in infancy.

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

Novel functional interaction between Na+/H+ exchanger 1 and tyrosine phosphatase SHP-2.

The genetics of congenital heart disease: a review of recent developments.

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.

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

Multiple thoracic aortic aneurysms after mediastinitis in an infant after repair of coarctation of the aorta.

Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia.

Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.

Evaluation of pulmonary artery banding in the setting of ventricular septal defects and severely elevated pulmonary vascular resistance.

Transcription factor Ap2delta associates with Ash2l and ALR, a trithorax family histone methyltransferase, to activate Hoxc8 transcription.

Deficiency and inhibition of cathepsin K reduce body weight gain and increase glucose metabolism in mice.

Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.

Ablation of cathepsin k activity in the young mouse causes hypermineralization of long bone and growth plates.

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

The phosphatase SHP2 regulates the spacing effect for long-term memory induction.

A restricted spectrum of NRAS mutations causes Noonan syndrome.

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.

Fgfr3 is a transcriptional target of Ap2delta and Ash2l-containing histone methyltransferase complexes.

Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.

Ash2l interacts with Tbx1 and is required during early embryogenesis.

Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome.

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans.

Noonan syndrome: clinical features, diagnosis, and management guidelines.

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.

RAS signaling pathway mutations and hypertrophic cardiomyopathy: getting into and out of the thick of it.

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.

Noonan syndrome and clinically related disorders.

Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromes.

Induced pluripotent stem cell-derived cardiomyocytes as models for genetic cardiovascular disorders.

Cathepsin K deficiency reduces elastase perfusion-induced abdominal aortic aneurysms in mice.

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.

Role of copy number variants in structural birth defects.

Signaling to cardiac hypertrophy: insights from human and mouse RASopathies.

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 Good SHP2 Association: a porthole into the genetics of congenital heart disease.

Char syndrome, a familial form of patent ductus arteriosus, with a new finding: hypoplasia [corrected] of the 3rd finger.

Regulation of embryonic and induced pluripotency by aurora kinase-p53 signaling.

Noonan syndrome.

Genetics of congenital heart disease: the glass half empty.

Economic and safety implications of introducing fast tracking in congenital heart surgery.

Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy.

De novo mutations in histone-modifying genes in congenital heart disease.

Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection.

MiST: a new approach to variant detection in deep sequencing datasets.

Recent advances in understanding the genetics of congenital heart defects.

Effect of copy number variants on outcomes for infants with single ventricle heart defects.

Frequency of aortic dilation in Noonan syndrome.

Concise review: drug discovery in the age of the induced pluripotent stem cell.

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.

RAF1 mutations in childhood-onset dilated cardiomyopathy.

A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.

New mechanistic and therapeutic targets for pediatric heart failure: report from a National Heart, Lung, and Blood Institute working group.

Complex genetics and the etiology of human congenital heart disease.

Identification and purification of human induced pluripotent stem cell-derived atrial-like cardiomyocytes based on sarcolipin expression.

Pediatric cardiac retransplantation: Waitlist mortality stratified by age and era.

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

Practical guidance on informed consent for pediatric participants in a biorepository.

Atenolol versus losartan in children and young adults with Marfan's syndrome.

Basic concepts and potential applications of genetics and genomics for cardiovascular and stroke clinicians: a scientific statement from the American Heart Association.

MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus.

Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog.

The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approach.

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

History of Our Understanding of the Causes of Congenital Heart Disease.

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.

Cardiomyopathies in Noonan syndrome and the other RASopathies.

Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic Leukemia.

When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority.

Human Engineered Cardiac Tissues Created Using Induced Pluripotent Stem Cells Reveal Functional Characteristics of BRAF-Mediated Hypertrophic Cardiomyopathy.

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

Genetics of congenital heart disease.