| Year |
Citation |
Score |
| 2024 |
Rodríguez NA, Patel N, Dariolli R, Ng S, Aleman AG, Gong JQX, Lin HM, Rodríguez M, Josowitz R, Sol-Church K, Gripp KW, Lin X, Song SC, Fishman GI, Sobie EA, ... Gelb BD, et al. -Mutant Cardiomyocyte Model of Multifocal Atrial Tachycardia. Circulation. Arrhythmia and Electrophysiology. e012022. PMID 38415356 DOI: 10.1161/CIRCEP.123.012022 |
0.78 |
|
| 2020 |
Schneeberger PE, Kortüm F, Korenke GC, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb BD, Coci EG, Abou Jamra R, Siekmeyer M, Biskup S, ... ... Gelb BD, et al. Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. Brain : a Journal of Neurology. PMID 32761064 DOI: 10.1093/Brain/Awaa204 |
0.369 |
|
| 2020 |
Gruber CN, Calis JJA, Buta S, Evrony G, Martin JC, Uhl SA, Caron R, Jarchin L, Dunkin D, Phelps R, Webb BD, Saland JM, Merad M, Orange JS, Mace EM, ... ... Gelb BD, et al. Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function. Immunity. PMID 32750333 DOI: 10.1016/J.Immuni.2020.07.006 |
0.372 |
|
| 2020 |
Motta M, Pannone L, Pantaleoni F, Bocchinfuso G, Radio FC, Cecchetti S, Ciolfi A, Di Rocco M, Elting MW, Brilstra EH, Boni S, Mazzanti L, Tamburrino F, Walsh L, Payne K, ... ... Gelb BD, et al. Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum. American Journal of Human Genetics. PMID 32721402 DOI: 10.1016/J.Ajhg.2020.06.018 |
0.345 |
|
| 2020 |
Richter F, Morton SU, Kim SW, Kitaygorodsky A, Wasson LK, Chen KM, Zhou J, Qi H, Patel N, DePalma SR, Parfenov M, Homsy J, Gorham JM, Manheimer KB, Velinder M, ... ... Gelb BD, et al. Genomic analyses implicate noncoding de novo variants in congenital heart disease. Nature Genetics. PMID 32601476 DOI: 10.1038/S41588-020-0652-Z |
0.307 |
|
| 2020 |
Van Driest SL, Sleeper LA, Gelb BD, Morris SA, Dietz HC, Forbus GA, Goldmuntz E, Hoskoppal A, James J, Lee TM, Levine JC, Li JS, Loeys BL, Markham LW, Meester JAN, et al. Variants in ADRB1 and CYP2C9: Association with Response to Atenolol and Losartan in Marfan Syndrome. The Journal of Pediatrics. 222: 213-220.e5. PMID 32586526 DOI: 10.1016/J.Jpeds.2020.03.064 |
0.308 |
|
| 2020 |
Ruzzi LR, Schilman PE, San Martin A, Lew SE, Gelb BD, Pagani MR. The Phosphatase CSW Controls Life Span by Insulin Signaling and Metabolism Throughout Adult Life in . Frontiers in Genetics. 11: 364. PMID 32457793 DOI: 10.3389/Fgene.2020.00364 |
0.348 |
|
| 2020 |
Edwards JJ, Rouillard AD, Fernandez NF, Wang Z, Lachmann A, Shankaran SS, Bisgrove BW, Demarest B, Turan N, Srivastava D, Bernstein D, Deanfield J, Giardini A, Porter G, Kim R, ... ... Gelb BD, et al. Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. Jacc. Basic to Translational Science. 5: 376-386. PMID 32368696 DOI: 10.1016/J.Jacbts.2020.01.012 |
0.343 |
|
| 2020 |
Hsieh A, Morton SU, Willcox JAL, Gorham JM, Tai AC, Qi H, DePalma S, McKean D, Griffin E, Manheimer KB, Bernstein D, Kim RW, Newburger JW, Porter GA, Srivastava D, ... ... Gelb BD, et al. EM-mosaic detects mosaic point mutations that contribute to congenital heart disease. Genome Medicine. 12: 42. PMID 32349777 DOI: 10.1186/S13073-020-00738-1 |
0.383 |
|
| 2020 |
Linglart L, Gelb BD. Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. PMID 32022400 DOI: 10.1002/Ajmg.C.31765 |
0.413 |
|
| 2020 |
Sevim Bayrak C, Zhang P, Tristani-Firouzi M, Gelb BD, Itan Y. De novo variants in exomes of congenital heart disease patients identify risk genes and pathways. Genome Medicine. 12: 9. PMID 31941532 DOI: 10.1186/S13073-019-0709-8 |
0.353 |
|
| 2020 |
Gross AM, Frone M, Gripp KW, Gelb BD, Schoyer L, Schill L, Stronach B, Biesecker LG, Esposito D, Hernandez ER, Legius E, Loh ML, Martin S, Morrison DK, Rauen KA, et al. Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies. American Journal of Medical Genetics. Part A. PMID 31913576 DOI: 10.1002/Ajmg.A.61485 |
0.329 |
|
| 2019 |
Gripp KW, Schill L, Schoyer L, Stronach B, Bennett AM, Blaser S, Brown A, Burdine R, Burkitt-Wright E, Castel P, Darilek S, Dias A, Dyer T, Ellis M, Erickson G, ... Gelb BD, et al. The sixth international RASopathies symposium: Precision medicine-From promise to practice. American Journal of Medical Genetics. Part A. PMID 31825160 DOI: 10.1002/Ajmg.A.61434 |
0.306 |
|
| 2019 |
Pearson S, Guo B, Pierce A, Azadbakht N, Brazzatti JA, Patassini S, Mulero-Navarro S, Meyer S, Flotho C, Gelb BD, Whetton AD. Proteomic analysis of an induced pluripotent stem cell model reveals strategies to treat Juvenile Myelomonocytic Leukaemia. Journal of Proteome Research. PMID 31657576 DOI: 10.1021/Acs.Jproteome.9B00495 |
0.425 |
|
| 2019 |
Watkins WS, Hernandez EJ, Wesolowski S, Bisgrove BW, Sunderland RT, Lin E, Lemmon G, Demarest BL, Miller TA, Bernstein D, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Newburger JW, et al. De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes. Nature Communications. 10: 4722. PMID 31624253 DOI: 10.1038/S41467-019-12582-Y |
0.357 |
|
| 2019 |
Holt RJ, Young RM, Crespo B, Ceroni F, Curry CJ, Bellacchio E, Bax DA, Ciolfi A, Simon M, Fagerberg CR, van Binsbergen E, De Luca A, Memo L, Dobyns WB, Mohammed AA, ... ... Gelb BD, et al. De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. American Journal of Human Genetics. PMID 31402090 DOI: 10.1016/J.Ajhg.2019.07.005 |
0.327 |
|
| 2019 |
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Wallen S, Solveig H, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, ... ... Gelb BD, et al. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31388190 DOI: 10.1038/S41436-019-0612-0 |
0.339 |
|
| 2019 |
Robson A, Makova SZ, Barish S, Zaidi S, Mehta S, Drozd J, Jin SC, Gelb BD, Seidman CE, Chung WK, Lifton RP, Khokha MK, Brueckner M. Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility. Proceedings of the National Academy of Sciences of the United States of America. PMID 31235600 DOI: 10.1073/Pnas.1808341116 |
0.376 |
|
| 2019 |
Andelfinger G, Marquis C, Raboisson MJ, Théoret Y, Waldmüller S, Wiegand G, Gelb BD, Zenker M, Delrue MA, Hofbeck M. Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition. Journal of the American College of Cardiology. 73: 2237-2239. PMID 31047013 DOI: 10.1016/J.Jacc.2019.01.066 |
0.412 |
|
| 2019 |
Richter F, Hoffman GE, Manheimer KB, Patel N, Sharp AJ, McKean D, Morton SU, DePalma S, Gorham J, Kitaygorodksy A, Porter GA, Giardini A, Shen Y, Chung WK, Seidman JG, ... ... Gelb BD, et al. ORE Identifies Extreme Expression Effects Enriched for Rare Variants. Bioinformatics (Oxford, England). PMID 30903145 DOI: 10.1093/Bioinformatics/Btz202 |
0.31 |
|
| 2019 |
Urreizti R, Mayer K, Evrony GD, Said E, Castilla-Vallmanya L, Cody NAL, Plasencia G, Gelb BD, Grinberg D, Brinkmann U, Webb BD, Balcells S. DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. European Journal of Human Genetics : Ejhg. PMID 30877278 DOI: 10.1038/S41431-019-0374-9 |
0.348 |
|
| 2018 |
Pierpont ME, Brueckner M, Chung WK, Garg V, Lacro RV, McGuire AL, Mital S, Priest JR, Pu WT, Roberts A, Ware SM, Gelb BD, Russell MW. Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. Circulation. 138: e653-e711. PMID 30571578 DOI: 10.1161/Cir.0000000000000606 |
0.343 |
|
| 2018 |
Rauen KA, Schoyer L, Schill L, Stronach B, Albeck J, Andresen BS, Cavé H, Ellis M, Fruchtman SM, Gelb BD, Gibson CC, Gripp K, Hefner E, Huang WYC, Itkin M, et al. Proceedings of the fifth international RASopathies symposium: When development and cancer intersect. American Journal of Medical Genetics. Part A. e40632. PMID 30302932 DOI: 10.1002/Ajmg.A.40632 |
0.357 |
|
| 2018 |
Verheije R, Kupchik GS, Isidor B, Kroes HY, Lynch SA, Hawkes L, Hempel M, Gelb BD, Ghoumid J, D'Amours G, Chandler K, Dubourg C, Loddo S, Tümer Z, Shaw-Smith C, et al. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability. European Journal of Human Genetics : Ejhg. PMID 30291340 DOI: 10.1038/S41431-018-0281-5 |
0.367 |
|
| 2018 |
Manheimer KB, Richter F, Edelmann LJ, D'Souza SL, Shi L, Shen Y, Homsy J, Boskovski MT, Tai AC, Gorham J, Yasso C, Goldmuntz E, Brueckner M, Lifton RP, Chung WK, ... ... Gelb BD, et al. Robust identification of mosaic variants in congenital heart disease. Human Genetics. PMID 29417219 DOI: 10.1007/S00439-018-1871-6 |
0.383 |
|
| 2018 |
Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L, Nouri K, Farina L, Dvorsky R, Lepri F, Buchholzer M, Konopatzki R, Walsh L, Payne K, Pierpont ME, ... ... Gelb BD, et al. Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. American Journal of Human Genetics. PMID 29394990 DOI: 10.1016/J.Ajhg.2017.12.015 |
0.431 |
|
| 2018 |
Gilsbach R, Schwaderer M, Preissl S, Grüning BA, Kranzhöfer D, Schneider P, Nührenberg TG, Mulero-Navarro S, Weichenhan D, Braun C, Dreßen M, Jacobs AR, Lahm H, Doenst T, Backofen R, ... ... Gelb BD, et al. Distinct epigenetic programs regulate cardiac myocyte development and disease in the human heart in vivo. Nature Communications. 9: 391. PMID 29374152 DOI: 10.1038/S41467-017-02762-Z |
0.325 |
|
| 2018 |
Hoang TT, Goldmuntz E, Roberts AE, Chung WK, Kline JK, Deanfield JE, Giardini A, Aleman A, Gelb BD, Mac Neal M, Porter GA, Kim R, Brueckner M, Lifton RP, Edman S, et al. The Congenital Heart Disease Genetic Network Study: Cohort description. Plos One. 13: e0191319. PMID 29351346 DOI: 10.1371/Journal.Pone.0191319 |
0.311 |
|
| 2017 |
Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, Hung WC, Haider S, Zhang J, Knight J, Bjornson RD, ... ... Gelb BD, et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nature Genetics. PMID 28991257 DOI: 10.1038/Ng.3970 |
0.42 |
|
| 2017 |
Belkaya S, Kontorovich AR, Byun M, Mulero-Navarro S, Bajolle F, Cobat A, Josowitz R, Itan Y, Quint R, Lorenzo L, Boucherit S, Stoven C, Di Filippo S, Abel L, Zhang SY, ... ... Gelb BD, et al. Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis. Journal of the American College of Cardiology. 69: 1653-1665. PMID 28359509 DOI: 10.1016/J.Jacc.2017.01.043 |
0.753 |
|
| 2017 |
Pannone L, Bocchinfuso G, Flex E, Rossi C, Baldassarre G, Lissewski C, Pantaleoni F, Consoli F, Lepri F, Magliozzi M, Anselmi M, Sorge G, Karaer K, Cuturilo G, Sartorio A, ... ... Gelb BD, et al. Structural, Functional and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. Human Mutation. PMID 28074573 DOI: 10.1002/Humu.23175 |
0.411 |
|
| 2016 |
McKean DM, Homsy J, Wakimoto H, Patel N, Gorham J, DePalma SR, Ware JS, Zaidi S, Ma W, Patel N, Lifton RP, Chung WK, Kim R, Shen Y, Brueckner M, ... ... Gelb BD, et al. Loss of RNA expression and allele-specific expression associated with congenital heart disease. Nature Communications. 7: 12824. PMID 27670201 DOI: 10.1038/Ncomms12824 |
0.356 |
|
| 2016 |
Gelb BD. The Hole and the Whole: Lessons from Manipulation of Nipbl Deficiency. Plos Biology. 14: e2000494. PMID 27606622 DOI: 10.1371/Journal.Pbio.2000494 |
0.399 |
|
| 2016 |
Josowitz R, Mulero-Navarro S, Rodriguez NA, Falce C, Cohen N, Ullian EM, Weiss LA, Rauen KA, Sobie EA, Gelb BD. Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes. Stem Cell Reports. PMID 27569062 DOI: 10.1016/J.Stemcr.2016.07.018 |
0.792 |
|
| 2016 |
Priest JR, Osoegawa K, Mohammed N, Nanda V, Kundu R, Schultz K, Lammer EJ, Girirajan S, Scheetz T, Waggott D, Haddad F, Reddy S, Bernstein D, Burns T, Steimle JD, ... ... Gelb BD, et al. De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. Plos Genetics. 12: e1005963. PMID 27058611 DOI: 10.1371/Journal.Pgen.1005963 |
0.417 |
|
| 2016 |
Cashman TJ, Josowitz R, Gelb BD, Li RA, Dubois NC, Costa KD. Construction of Defined Human Engineered Cardiac Tissues to Study Mechanisms of Cardiac Cell Therapy. Journal of Visualized Experiments : Jove. PMID 26967678 DOI: 10.3791/53447 |
0.767 |
|
| 2016 |
Edwards JJ, Gelb BD. Genetics of congenital heart disease. Current Opinion in Cardiology. 31: 235-41. PMID 26872209 DOI: 10.1097/Hco.0000000000000274 |
0.313 |
|
| 2016 |
Cashman TJ, Josowitz R, Johnson BV, Gelb BD, Costa KD. Human Engineered Cardiac Tissues Created Using Induced Pluripotent Stem Cells Reveal Functional Characteristics of BRAF-Mediated Hypertrophic Cardiomyopathy. Plos One. 11: e0146697. PMID 26784941 DOI: 10.1371/Journal.Pone.0146697 |
0.789 |
|
| 2015 |
Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter GA, Kim R, ... ... Gelb BD, et al. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science (New York, N.Y.). 350: 1262-6. PMID 26785492 DOI: 10.1126/Science.Aac9396 |
0.401 |
|
| 2015 |
Mulero-Navarro S, Sevilla A, Roman AC, Lee DF, D'Souza SL, Pardo S, Riess I, Su J, Cohen N, Schaniel C, Rodriguez NA, Baccarini A, Brown BD, Cavé H, Caye A, ... ... Gelb BD, et al. Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic Leukemia. Cell Reports. 13: 504-515. PMID 26456833 DOI: 10.1016/J.Celrep.2015.09.019 |
0.372 |
|
| 2015 |
Gelb BD, Roberts AE, Tartaglia M. Cardiomyopathies in Noonan syndrome and the other RASopathies. Progress in Pediatric Cardiology. 39: 13-19. PMID 26380542 DOI: 10.1016/J.Ppedcard.2015.01.002 |
0.391 |
|
| 2015 |
Cordeddu V, Yin JC, Gunnarsson C, Virtanen C, Drunat S, Lepri F, De Luca A, Rossi C, Ciolfi A, Pugh TJ, Bruselles A, Priest JR, Pennacchio LA, Lu Z, Danesh A, ... ... Gelb BD, et al. Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome. Human Mutation. PMID 26173643 DOI: 10.1002/Humu.22834 |
0.427 |
|
| 2015 |
Martinelli S, Stellacci E, Pannone L, D'Agostino D, Consoli F, Lissewski C, Silvano M, Cencelli G, Lepri F, Maitz S, Pauli S, Rauch A, Zampino G, Selicorni A, Melançon S, ... ... Gelb BD, et al. Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations. Human Mutation. 36: 787-96. PMID 25952305 DOI: 10.1002/Humu.22809 |
0.43 |
|
| 2015 |
Korf B, Ahmadian R, Allanson J, Aoki Y, Bakker A, Wright EB, Denger B, Elgersma Y, Gelb BD, Gripp KW, Kerr B, Kontaridis M, Lazaro C, Linardic C, Lozano R, et al. The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach. American Journal of Medical Genetics. Part A. PMID 25900621 DOI: 10.1002/Ajmg.A.37089 |
0.315 |
|
| 2015 |
Hahn A, Lauriol J, Thul J, Behnke-Hall K, Logeswaran T, Schänzer A, Bö?ürcü N, Garvalov BK, Zenker M, Gelb BD, von Gerlach S, Kandolf R, Kontaridis MI, Schranz D. 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. 167: 744-51. PMID 25708222 DOI: 10.1002/Ajmg.A.36982 |
0.358 |
|
| 2015 |
Quintero-Rivera F, Xi QJ, Keppler-Noreuil KM, Lee JH, Higgins AW, Anchan RM, Roberts AE, Seong IS, Fan X, Lage K, Lu LY, Tao J, Hu X, Berezney R, Gelb BD, et al. MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus. Human Molecular Genetics. 24: 2375-89. PMID 25574029 DOI: 10.1093/Hmg/Ddv004 |
0.395 |
|
| 2014 |
Glessner JT, Bick AG, Ito K, Homsy JG, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma SR, Golhar R, Sanders SJ, Yamrom B, Ronemus M, ... ... Gelb BD, et al. 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. 115: 884-96. PMID 25205790 DOI: 10.1161/Circresaha.115.304458 |
0.313 |
|
| 2014 |
Josowitz R, Lu J, Falce C, D'Souza SL, Wu M, Cohen N, Dubois NC, Zhao Y, Sobie EA, Fishman GI, Gelb BD. Identification and purification of human induced pluripotent stem cell-derived atrial-like cardiomyocytes based on sarcolipin expression. Plos One. 9: e101316. PMID 25010565 DOI: 10.1371/Journal.Pone.0101316 |
0.769 |
|
| 2014 |
Gelb BD, Chung WK. Complex genetics and the etiology of human congenital heart disease. Cold Spring Harbor Perspectives in Medicine. 4: a013953. PMID 24985128 DOI: 10.1101/Cshperspect.A013953 |
0.392 |
|
| 2014 |
Edwards JJ, Martinelli S, Pannone L, Lo IF, Shi L, Edelmann L, Tartaglia M, Luk HM, Gelb BD. A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. American Journal of Medical Genetics. Part A. 164: 2351-5. PMID 24891296 DOI: 10.1002/Ajmg.A.36620 |
0.422 |
|
| 2014 |
Dhandapany PS, Razzaque MA, Muthusami U, Kunnoth S, Edwards JJ, Mulero-Navarro S, Riess I, Pardo S, Sheng J, Rani DS, Rani B, Govindaraj P, Flex E, Yokota T, Furutani M, ... ... Gelb BD, et al. RAF1 mutations in childhood-onset dilated cardiomyopathy. Nature Genetics. 46: 635-9. PMID 24777450 DOI: 10.1038/Ng.2963 |
0.431 |
|
| 2014 |
Flex E, Jaiswal M, Pantaleoni F, Martinelli S, Strullu M, Fansa EK, Caye A, De Luca A, Lepri F, Dvorsky R, Pannone L, Paolacci S, Zhang SC, Fodale V, Bocchinfuso G, ... ... Gelb BD, et al. Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis. Human Molecular Genetics. 23: 4315-27. PMID 24705357 DOI: 10.1093/Hmg/Ddu148 |
0.426 |
|
| 2014 |
Cornwall JW, Green RS, Nielsen JC, Gelb BD. Frequency of aortic dilation in Noonan syndrome. The American Journal of Cardiology. 113: 368-71. PMID 24220280 DOI: 10.1016/J.Amjcard.2013.09.034 |
0.308 |
|
| 2013 |
Gelb BD. Recent advances in understanding the genetics of congenital heart defects. Current Opinion in Pediatrics. 25: 561-6. PMID 23995429 DOI: 10.1097/Mop.0B013E3283648826 |
0.32 |
|
| 2013 |
Yoon SR, Choi SK, Eboreime J, Gelb BD, Calabrese P, Arnheim N. Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection. American Journal of Human Genetics. 92: 917-26. PMID 23726368 DOI: 10.1016/J.Ajhg.2013.05.001 |
0.418 |
|
| 2013 |
Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, ... ... Gelb BD, et al. De novo mutations in histone-modifying genes in congenital heart disease. Nature. 498: 220-3. PMID 23665959 DOI: 10.1038/Nature12141 |
0.393 |
|
| 2013 |
Fahed AC, Gelb BD, Seidman JG, Seidman CE. Genetics of congenital heart disease: the glass half empty. Circulation Research. 112: 707-20. PMID 23410880 DOI: 10.1161/Circresaha.112.300853 |
0.421 |
|
| 2013 |
Gelb B, Brueckner M, Chung W, Goldmuntz E, Kaltman J, Kaski JP, Kim R, Kline J, Mercer-Rosa L, Porter G, Roberts A, Rosenberg E, Seiden H, Seidman C, et al. The Congenital Heart Disease Genetic Network Study: rationale, design, and early results. Circulation Research. 112: 698-706. PMID 23410879 DOI: 10.1161/Circresaha.111.300297 |
0.345 |
|
| 2012 |
Gelb BD, Seidman CE. The Good SHP2 Association: a porthole into the genetics of congenital heart disease. Circulation. Cardiovascular Genetics. 5: 271-3. PMID 22715277 DOI: 10.1161/Circgenetics.112.963215 |
0.372 |
|
| 2012 |
Martinelli S, Nardozza AP, Delle Vigne S, Sabetta G, Torreri P, Bocchinfuso G, Flex E, Venanzi S, Palleschi A, Gelb BD, Cesareni G, Stella L, Castagnoli L, Tartaglia M. 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. 287: 27066-77. PMID 22711529 DOI: 10.1074/Jbc.M112.350231 |
0.366 |
|
| 2012 |
Sala V, Gallo S, Leo C, Gatti S, Gelb BD, Crepaldi T. Signaling to cardiac hypertrophy: insights from human and mouse RASopathies. Molecular Medicine (Cambridge, Mass.). 18: 938-47. PMID 22576369 DOI: 10.2119/Molmed.2011.00512 |
0.375 |
|
| 2012 |
Caputo V, Cianetti L, Niceta M, Carta C, Ciolfi A, Bocchinfuso G, Carrani E, Dentici ML, Biamino E, Belligni E, Garavelli L, Boccone L, Melis D, Andria G, Gelb BD, et al. A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. American Journal of Human Genetics. 90: 161-9. PMID 22243968 DOI: 10.1016/J.Ajhg.2011.12.011 |
0.407 |
|
| 2011 |
Josowitz R, Carvajal-Vergara X, Lemischka IR, Gelb BD. Induced pluripotent stem cell-derived cardiomyocytes as models for genetic cardiovascular disorders. Current Opinion in Cardiology. 26: 223-9. PMID 21451408 DOI: 10.1097/Hco.0B013E32834598Ad |
0.767 |
|
| 2011 |
Dhandapany PS, Fabris F, Tonk R, Illaste A, Karakikes I, Sorourian M, Sheng J, Hajjar RJ, Tartaglia M, Sobie EA, Lebeche D, Gelb BD. Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromes. Journal of Molecular and Cellular Cardiology. 51: 4-15. PMID 21440552 DOI: 10.1016/J.Yjmcc.2011.03.001 |
0.408 |
|
| 2011 |
Tartaglia M, Gelb BD, Zenker M. Noonan syndrome and clinically related disorders. Best Practice & Research. Clinical Endocrinology & Metabolism. 25: 161-79. PMID 21396583 DOI: 10.1016/J.Beem.2010.09.002 |
0.394 |
|
| 2011 |
Lepri F, De Luca A, Stella L, Rossi C, Baldassarre G, Pantaleoni F, Cordeddu V, Williams BJ, Dentici ML, Caputo V, Venanzi S, Bonaguro M, Kavamura I, Faienza MF, Pilotta A, ... ... Gelb BD, et al. SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. Human Mutation. 32: 760-72. PMID 21387466 DOI: 10.1002/Humu.21492 |
0.431 |
|
| 2011 |
Gelb BD, Tartaglia M. RAS signaling pathway mutations and hypertrophic cardiomyopathy: getting into and out of the thick of it. The Journal of Clinical Investigation. 121: 844-7. PMID 21339640 DOI: 10.1172/Jci46399 |
0.362 |
|
| 2010 |
Tartaglia M, Gelb BD. Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms. Annals of the New York Academy of Sciences. 1214: 99-121. PMID 20958325 DOI: 10.1111/J.1749-6632.2010.05790.X |
0.343 |
|
| 2010 |
Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 126: 746-59. PMID 20876176 DOI: 10.1542/Peds.2009-3207 |
0.36 |
|
| 2010 |
Au AC, Hernandez PA, Lieber E, Nadroo AM, Shen YM, Kelley KA, Gelb BD, Diaz GA. Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans. American Journal of Human Genetics. 87: 436-44. PMID 20826270 DOI: 10.1016/J.Ajhg.2010.08.008 |
0.366 |
|
| 2010 |
Tartaglia M, Zampino G, Gelb BD. Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis Molecular Syndromology. 1: 2-26. PMID 20648242 DOI: 10.1159/000276766 |
0.447 |
|
| 2010 |
Martinelli S, De Luca A, Stellacci E, Rossi C, Checquolo S, Lepri F, Caputo V, Silvano M, Buscherini F, Consoli F, Ferrara G, Digilio MC, Cavaliere ML, van Hagen JM, Zampino G, ... ... Gelb BD, et al. Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. American Journal of Human Genetics. 87: 250-7. PMID 20619386 DOI: 10.1016/J.Ajhg.2010.06.015 |
0.426 |
|
| 2010 |
Carvajal-Vergara X, Sevilla A, D'Souza SL, Ang YS, Schaniel C, Lee DF, Yang L, Kaplan AD, Adler ED, Rozov R, Ge Y, Cohen N, Edelmann LJ, Chang B, Waghray A, ... ... Gelb BD, et al. Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. Nature. 465: 808-12. PMID 20535210 DOI: 10.1038/Nature09005 |
0.431 |
|
| 2010 |
Bauer RC, Laney AO, Smith R, Gerfen J, Morrissette JJ, Woyciechowski S, Garbarini J, Loomes KM, Krantz ID, Urban Z, Gelb BD, Goldmuntz E, Spinner NB. Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. Human Mutation. 31: 594-601. PMID 20437614 DOI: 10.1002/Humu.21231 |
0.4 |
|
| 2010 |
Rauen KA, Schoyer L, McCormick F, Lin AE, Allanson JE, Stevenson DA, Gripp KW, Neri G, Carey JC, Legius E, Tartaglia M, Schubbert S, Roberts AE, Gelb BD, Shannon K, et al. Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. American Journal of Medical Genetics. Part A. 152: 4-24. PMID 20014119 DOI: 10.1002/Ajmg.A.33183 |
0.362 |
|
| 2010 |
Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts AE, Lepri F, Merbitz-Zahradnik T, König R, Kratz CP, Pantaleoni F, Dentici ML, Joshi VA, Kucherlapati RS, ... ... Gelb BD, et al. A restricted spectrum of NRAS mutations causes Noonan syndrome. Nature Genetics. 42: 27-9. PMID 19966803 DOI: 10.1038/Ng.497 |
0.405 |
|
| 2009 |
Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, ... ... Gelb BD, et al. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nature Genetics. 41: 1022-6. PMID 19684605 DOI: 10.1038/Ng.425 |
0.354 |
|
| 2009 |
Sarkozy A, Carta C, Moretti S, Zampino G, Digilio MC, Pantaleoni F, Scioletti AP, Esposito G, Cordeddu V, Lepri F, Petrangeli V, Dentici ML, Mancini GM, Selicorni A, Rossi C, ... ... Gelb BD, et al. Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Human Mutation. 30: 695-702. PMID 19206169 DOI: 10.1002/Humu.20955 |
0.424 |
|
| 2009 |
Boskey AL, Gelb BD, Pourmand E, Kudrashov V, Doty SB, Spevak L, Schaffler MB. Ablation of cathepsin k activity in the young mouse causes hypermineralization of long bone and growth plates. Calcified Tissue International. 84: 229-39. PMID 19172215 DOI: 10.1007/S00223-008-9214-6 |
0.322 |
|
| 2009 |
Oishi K, Zhang H, Gault WJ, Wang CJ, Tan CC, Kim IK, Ying H, Rahman T, Pica N, Tartaglia M, Mlodzik M, Gelb BD. Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development. Human Molecular Genetics. 18: 193-201. PMID 18849586 DOI: 10.1093/Hmg/Ddn336 |
0.435 |
|
| 2008 |
Martinelli S, Torreri P, Tinti M, Stella L, Bocchinfuso G, Flex E, Grottesi A, Ceccarini M, Palleschi A, Cesareni G, Castagnoli L, Petrucci TC, Gelb BD, Tartaglia M. 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. 17: 2018-29. PMID 18372317 DOI: 10.1093/Hmg/Ddn099 |
0.338 |
|
| 2008 |
Flex E, Petrangeli V, Stella L, Chiaretti S, Hornakova T, Knoops L, Ariola C, Fodale V, Clappier E, Paoloni F, Martinelli S, Fragale A, Sanchez M, Tavolaro S, Messina M, ... ... Gelb BD, et al. Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia. The Journal of Experimental Medicine. 205: 751-8. PMID 18362173 DOI: 10.1084/Jem.20072182 |
0.378 |
|
| 2007 |
Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, ... ... Gelb BD, et al. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nature Genetics. 39: 1007-12. PMID 17603483 DOI: 10.1038/Ng2073 |
0.414 |
|
| 2007 |
Pierpont ME, Basson CT, Benson DW, Gelb BD, Giglia TM, Goldmuntz E, McGee G, Sable CA, Srivastava D, Webb CL. 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. Circulation. 115: 3015-38. PMID 17519398 DOI: 10.1161/Circulationaha.106.183056 |
0.325 |
|
| 2007 |
Weismann CG, Gelb BD. The genetics of congenital heart disease: a review of recent developments. Current Opinion in Cardiology. 22: 200-6. PMID 17413276 DOI: 10.1097/Hco.0B013E3280F629C7 |
0.367 |
|
| 2007 |
Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, ... ... Gelb BD, et al. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nature Genetics. 39: 75-9. PMID 17143282 DOI: 10.1038/Ng1939 |
0.422 |
|
| 2007 |
Zampino G, Pantaleoni F, Carta C, Cobellis G, Vasta I, Neri C, Pogna EA, De Feo E, Delogu A, Sarkozy A, Atzeri F, Selicorni A, Rauen KA, Cytrynbaum CS, Weksberg R, ... ... Gelb BD, et al. Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Human Mutation. 28: 265-72. PMID 17054105 DOI: 10.1002/Humu.20431 |
0.396 |
|
| 2007 |
Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, ... ... Gelb BD, et al. Erratum: Corrigendum: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome Nature Genetics. 39: 276-276. DOI: 10.1038/Ng0207-276A |
0.375 |
|
| 2006 |
Gelb BD, Tartaglia M. Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction. Human Molecular Genetics. 15: R220-6. PMID 16987887 DOI: 10.1093/Hmg/Ddl197 |
0.418 |
|
| 2006 |
Carta C, Pantaleoni F, Bocchinfuso G, Stella L, Vasta I, Sarkozy A, Digilio C, Palleschi A, Pizzuti A, Grammatico P, Zampino G, Dallapiccola B, Gelb BD, Tartaglia M. Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. American Journal of Human Genetics. 79: 129-35. PMID 16773572 DOI: 10.1086/504394 |
0.432 |
|
| 2006 |
Oishi K, Gaengel K, Krishnamoorthy S, Kamiya K, Kim IK, Ying H, Weber U, Perkins LA, Tartaglia M, Mlodzik M, Pick L, Gelb BD. Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations. Human Molecular Genetics. 15: 543-53. PMID 16399795 DOI: 10.1093/Hmg/Ddi471 |
0.421 |
|
| 2006 |
Tartaglia M, Martinelli S, Stella L, Bocchinfuso G, Flex E, Cordeddu V, Zampino G, Burgt Iv, Palleschi A, Petrucci TC, Sorcini M, Schoch C, Foa R, Emanuel PD, Gelb BD. Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. American Journal of Human Genetics. 78: 279-90. PMID 16358218 DOI: 10.1086/499925 |
0.415 |
|
| 2005 |
Tartaglia M, Gelb BD. Noonan syndrome and related disorders: genetics and pathogenesis. Annual Review of Genomics and Human Genetics. 6: 45-68. PMID 16124853 DOI: 10.1146/Annurev.Genom.6.080604.162305 |
0.407 |
|
| 2005 |
Tartaglia M, Gelb BD. Germ-line and somatic PTPN11 mutations in human disease. European Journal of Medical Genetics. 48: 81-96. PMID 16053901 DOI: 10.1016/J.Ejmg.2005.03.001 |
0.429 |
|
| 2005 |
Bertola DR, Pereira AC, Passetti F, de Oliveira PS, Messiaen L, Gelb BD, Kim CA, Krieger JE. Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. American Journal of Medical Genetics. Part A. 136: 242-5. PMID 15948193 DOI: 10.1002/Ajmg.A.30813 |
0.389 |
|
| 2005 |
Weismann CG, Hager A, Kaemmerer H, Maslen CL, Morris CD, Schranz D, Kreuder J, Gelb BD. PTPN11 mutations play a minor role in isolated congenital heart disease. American Journal of Medical Genetics Part A. 136: 146-151. PMID 15940693 DOI: 10.1002/Ajmg.A.30789 |
0.419 |
|
| 2005 |
Kratz CP, Niemeyer CM, Castleberry RP, Cetin M, Bergsträsser E, Emanuel PD, Hasle H, Kardos G, Klein C, Kojima S, Stary J, Trebo M, Zecca M, Gelb BD, Tartaglia M, et al. The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. Blood. 106: 2183-5. PMID 15928039 DOI: 10.1182/Blood-2005-02-0531 |
0.371 |
|
| 2005 |
Lee JS, Tartaglia M, Gelb BD, Fridrich K, Sachs S, Stratakis CA, Muenke M, Robey PG, Collins MT, Slavotinek A. Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome. Journal of Medical Genetics. 42: e11. PMID 15689434 DOI: 10.1136/Jmg.2004.024091 |
0.407 |
|
| 2004 |
Tartaglia M, Cordeddu V, Chang H, Shaw A, Kalidas K, Crosby A, Patton MA, Sorcini M, van der Burgt I, Jeffery S, Gelb BD. Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. American Journal of Human Genetics. 75: 492-7. PMID 15248152 DOI: 10.1086/423493 |
0.4 |
|
| 2004 |
Gelb BD. Genetic basis of congenital heart disease. Current Opinion in Cardiology. 19: 110-5. PMID 15075735 DOI: 10.1097/00001573-200403000-00007 |
0.338 |
|
| 2004 |
Fratzl-Zelman N, Valenta A, Roschger P, Nader A, Gelb BD, Fratzl P, Klaushofer K. Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis. The Journal of Clinical Endocrinology and Metabolism. 89: 1538-47. PMID 15070910 DOI: 10.1210/Jc.2003-031055 |
0.311 |
|
| 2004 |
Tartaglia M, Martinelli S, Cazzaniga G, Cordeddu V, Iavarone I, Spinelli M, Palmi C, Carta C, Pession A, Aricò M, Masera G, Basso G, Sorcini M, Gelb BD, Biondi A. Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia. Blood. 104: 307-13. PMID 14982869 DOI: 10.1182/Blood-2003-11-3876 |
0.368 |
|
| 2004 |
Fragale A, Tartaglia M, Wu J, Gelb BD. Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. Human Mutation. 23: 267-77. PMID 14974085 DOI: 10.1002/Humu.20005 |
0.369 |
|
| 2004 |
Oishi K, Barchi M, Au AC, Gelb BD, Diaz GA. 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. 266: 299-309. PMID 14738878 DOI: 10.1016/J.Ydbio.2003.10.026 |
0.304 |
|
| 2004 |
Kratz CP, Niemeyer CM, Gelb BD, Tartaglia M, Loh ML. PTPN11 Mutational Spectrum in Juvenile Myelomonocytic Leukemia and Noonan Syndrome. Blood. 104: 3417-3417. DOI: 10.1182/Blood.V104.11.3417.3417 |
0.411 |
|
| 2003 |
Everts V, Hou WS, Rialland X, Tigchelaar W, Saftig P, Brömme D, Gelb BD, Beertsen W. Cathepsin K deficiency in pycnodysostosis results in accumulation of non-digested phagocytosed collagen in fibroblasts. Calcified Tissue International. 73: 380-6. PMID 12874701 DOI: 10.1007/S00223-002-2092-4 |
0.77 |
|
| 2003 |
Tartaglia M, Niemeyer CM, Fragale A, Song X, Buechner J, Jung A, Hählen K, Hasle H, Licht JD, Gelb BD. Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nature Genetics. 34: 148-50. PMID 12717436 DOI: 10.1038/Ng1156 |
0.375 |
|
| 2002 |
Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, Mortier G, Gregory S, Sharony R, Kambouris M, Sakati N, Meyer BF, Al Aqeel AI, Al Humaidan AK, Al Zanhrani F, ... ... Gelb BD, et al. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nature Genetics. 32: 448-52. PMID 12389028 DOI: 10.1038/Ng1012 |
0.405 |
|
| 2002 |
Ion A, Tartaglia M, Song X, Kalidas K, van der Burgt I, Shaw AC, Ming JE, Zampino G, Zackai EH, Dean JC, Somer M, Parenti G, Crosby AH, Patton MA, Gelb BD, et al. Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome. Human Genetics. 111: 421-7. PMID 12384786 DOI: 10.1007/S00439-002-0803-6 |
0.41 |
|
| 2002 |
Li Z, Hou WS, Escalante-Torres CR, Gelb BD, Bromme D. Collagenase activity of cathepsin K depends on complex formation with chondroitin sulfate. The Journal of Biological Chemistry. 277: 28669-76. PMID 12039963 DOI: 10.1074/Jbc.M204004200 |
0.754 |
|
| 2002 |
Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. American Journal of Human Genetics. 70: 1555-63. PMID 11992261 DOI: 10.1086/340847 |
0.425 |
|
| 2001 |
Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nature Genetics. 29: 465-8. PMID 11704759 DOI: 10.1038/Ng772 |
0.415 |
|
| 2001 |
Zhao F, Weismann CG, Satoda M, Pierpont ME, Sweeney E, Thompson EM, Gelb BD. Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation. American Journal of Human Genetics. 69: 695-703. PMID 11505339 DOI: 10.1086/323410 |
0.414 |
|
| 2001 |
Gelb BD. Genetic basis of syndromes associated with congenital heart disease. Current Opinion in Cardiology. 16: 188-194. PMID 11357015 DOI: 10.1097/00001573-200105000-00006 |
0.387 |
|
| 2001 |
Zannolli R, Mostardini R, Matera M, Pucci L, Gelb BD, Morgese G. Char syndrome: an additional family with polythelia, a new finding. American Journal of Medical Genetics. 95: 201-3. PMID 11102923 DOI: 10.1002/1096-8628(20001127)95:3<201::Aid-Ajmg3>3.0.Co;2-W |
0.321 |
|
| 2001 |
Tartaglia M, Mehler E, Goldberg R, Zampino G, Brunner H, Kremer H, van der Burgt I, Crosby A, Ion A, Jeffery S, Kalidas K, Patton M, Kucherlapati R, Gelb B. Correction: Mutations in the protein tyrosine kinase gene, PTPN11, cause Noonan syndrome Nature Genetics. 29: 491-491. DOI: 10.1038/Ng1201-491C |
0.358 |
|
| 2000 |
Satoda M, Zhao F, Diaz GA, Burn J, Goodship J, Davidson HR, Pierpont MEM, Gelb BD. Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus Nature Genetics. 25: 42-46. PMID 10802654 DOI: 10.1038/75578 |
0.4 |
|
| 2000 |
Diaz GA, Gelb BD, Risch N, Nygaard TG, Frisch A, Cohen IJ, Sa Miranda C, Amaral O, Maire I, Poenaru L, Caillaud C, Weizberg M, Mistry P, Desnick RJ. Gaucher disease: The origins of the ashkenazi jewish N370S anti 84GG acid β-glucosidase mutations American Journal of Human Genetics. 66: 1821-1832. PMID 10777718 DOI: 10.1086/302946 |
0.317 |
|
| 2000 |
Gorlin RJ, Gelb B, Diaz GA, Lofsness KG, Pittelkow MR, Fenyk JR. WHIM syndrome, an autosomal dominant disorder: clinical, hematological, and molecular studies. American Journal of Medical Genetics. 91: 368-76. PMID 10767001 DOI: 10.1002/(Sici)1096-8628(20000424)91:5<368::Aid-Ajmg10>3.0.Co;2-9 |
0.327 |
|
| 2000 |
Gelb BD. Recent advances in the understanding of genetic causes of congenital heart defects. Frontiers in Bioscience : a Journal and Virtual Library. 5: D321-33. PMID 10704426 DOI: 10.2741/Gelb |
0.371 |
|
| 2000 |
Martignetti JA, Gelb BD, Pierce H, Picci P, Desnick RJ. Malignant fibrous histiocytoma: inherited and sporadic forms have loss of heterozygosity at chromosome bands 9p21-22-evidence for a common genetic defect. Genes, Chromosomes and Cancer. 27: 191-195. PMID 10612808 DOI: 10.1002/(Sici)1098-2264(200002)27:2<191::Aid-Gcc11>3.0.Co;2-L |
0.326 |
|
| 2000 |
Nishi Y, Atley L, Eyre DE, Edelson JG, Superti-Furga A, Yasuda T, Desnick RJ, Gelb BD. Determination of bone markers in pycnodysostosis: effects of cathepsin K deficiency on bone matrix degradation. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 14: 1902-8. PMID 10571690 DOI: 10.1359/Jbmr.1999.14.11.1902 |
0.323 |
|
| 2000 |
Gelb BD. Recent advances in the understanding of genetic causes of congenital heart defects Frontiers in Bioscience. 5: d321-333. DOI: 10.1080/15513819809168804 |
0.371 |
|
| 1999 |
Zhou G, Chen Y, Zhou L, Thirunavukkarasu K, Hecht J, Chitayat D, Gelb BD, Pirinen S, Berry SA, Greenberg CR, Karsenty G, Lee B. CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. Human Molecular Genetics. 8: 2311-6. PMID 10545612 DOI: 10.1093/Hmg/8.12.2311 |
0.384 |
|
| 1999 |
Gelb BD, Zhang J, Sommer RJ, Wasserman JM, Reitman MJ, Willner JP. Familial patent ductus arteriosus and bicuspid aortic valve with hand anomalies: a novel heart-hand syndrome. American Journal of Medical Genetics. 87: 175-9. PMID 10533032 DOI: 10.1002/(Sici)1096-8628(19991119)87:2<175::Aid-Ajmg9>3.0.Co;2-# |
0.356 |
|
| 1999 |
Diaz GA, Banikazemi M, Oishi K, Desnick RJ, Gelb BD. Mutations in a new gene encoding a thiamine transporter cause thiamine- responsive megaloblastic anaemia syndrome Nature Genetics. 22: 309-312. PMID 10391223 DOI: 10.1038/10385 |
0.356 |
|
| 1999 |
Diaz GA, Gelb BD, Ali F, Sakati N, Sanjad S, Meyer BF, Kambouris M. Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: Evidence for an ancestral founder mutation and locus refinement American Journal of Medical Genetics. 85: 48-52. PMID 10377012 DOI: 10.1002/(Sici)1096-8628(19990702)85:1<48::Aid-Ajmg9>3.0.Co;2-Y |
0.367 |
|
| 1999 |
Satoda M, Pierpont MEM, Diaz GA, Bornemeier RA, Gelb BD. Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21 Circulation. 99: 3036-3042. PMID 10368122 DOI: 10.1161/01.Cir.99.23.3036 |
0.343 |
|
| 1999 |
Hou WS, Brömme D, Zhao Y, Mehler E, Dushey C, Weinstein H, Miranda CS, Fraga C, Greig F, Carey J, Rimoin DL, Desnick RJ, Gelb BD. Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis. The Journal of Clinical Investigation. 103: 731-8. PMID 10074491 DOI: 10.1172/Jci653 |
0.786 |
|
| 1999 |
Banikazemi M, Diaz GA, Vossough P, Jalali M, Desnick RJ, Gelb BD. Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23 Molecular Genetics and Metabolism. 66: 193-198. PMID 10066388 DOI: 10.1006/Mgme.1998.2799 |
0.346 |
|
| 1999 |
Martignetti JA, Desnick RJ, Aliprandis E, Norton KI, Hardcastle P, Nade S, Gelb BD. Diaphyseal medullary stenosis with malignant fibrous histiocytoma: a hereditary bone dysplasia/cancer syndrome maps to 9p21-22. American Journal of Human Genetics. 64: 801-7. PMID 10053015 DOI: 10.1086/302297 |
0.326 |
|
| 1999 |
Diaz GA, Gelb BD, Risch N, Nygaard T, Maire I, Poenaru L, Caillaud C, Sa Miranda C, Amaral O, Mistry PK, Desnick RJ. Linkage Disequilibrium Analysis of the Gaucher Disease N370S Mutation Pediatric Research. 45: 137A-137A. DOI: 10.1203/00006450-199904020-00814 |
0.33 |
|
| 1998 |
Montgomery RA, Geraghty MT, Bull E, Gelb BD, Johnson M, McIntosh I, Francomano CA, Dietz HC. Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome American Journal of Human Genetics. 63: 1703-1711. PMID 9837823 DOI: 10.1086/302144 |
0.392 |
|
| 1998 |
Diaz GA, Khan KTS, Gelb BD. The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43 Genomics. 54: 13-18. PMID 9806825 DOI: 10.1006/Geno.1998.5530 |
0.321 |
|
| 1998 |
Gelb BD, Willner JP, Dunn TM, Kardon NB, Verloes A, Poncin J, Desnick RJ. Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. American Journal of Human Genetics. 62: 848-54. PMID 9529353 DOI: 10.1086/301795 |
0.325 |
|
| 1998 |
Martignetti JA, Desnick RJ, Gelb BD. From Hereditary Cancer Syndrome to Sporadic Cancer Etiology: Genetic Linkage of DMS-MFH to Chromosome 9p21-22 • 724 Pediatric Research. 43: 126-126. DOI: 10.1203/00006450-199804001-00745 |
0.334 |
|
| 1998 |
Hou W, Bromme D, Mehler E, Weinstein H, Desnick RJ, Gelb BD. Pycnodysostosis: Expression and Biochemical Characterization of Missense Mutations in the Cathepsin K Gene • 718 Pediatric Research. 43: 125-125. DOI: 10.1203/00006450-199804001-00739 |
0.785 |
|
| 1997 |
Gelb BD. Molecular genetics of congenital heart disease. Current Opinion in Cardiology. 12: 321-328. PMID 9243090 DOI: 10.1097/00001573-199705000-00014 |
0.411 |
|
| 1997 |
Gelb BD, Shi GP, Heller M, Weremowicz S, Morton C, Desnick RJ, Chapman HA. Structure and chromosomal assignment of the human cathepsin K gene Genomics. 41: 258-262. PMID 9143502 DOI: 10.1006/Geno.1997.4631 |
0.365 |
|
| 1997 |
Gelb BD, Dushey C, Mehler EL, Weinstein H, Desnick RJ. Pycnodysostosis: Identification, Characterization, and Molecular Modeling of Cathepsin K Mutations • 107 Pediatric Research. 41: 20-20. DOI: 10.1203/00006450-199704001-00128 |
0.357 |
|
| 1996 |
Gelb BD, Moissoglu K, Zhang J, Martignetti JA, Brömme D, Desnick RJ. Cathepsin K: Isolation and Characterization of the Murine cDNA and Genomic Sequence, the Homologue of the Human Pycnodysostosis Gene Biochemical and Molecular Medicine. 59: 200-206. PMID 8986645 DOI: 10.1006/Bmme.1996.0088 |
0.332 |
|
| 1996 |
Gelb BD, Shi GP, Chapman HA, Desnick RJ. Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency Science. 273: 1236-1239. PMID 8703060 DOI: 10.1126/Science.273.5279.1236 |
0.399 |
|
| 1995 |
Gelb BD, Edelson JG, Desnick RJ. Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping. Nature Genetics. 10: 235-7. PMID 7663521 DOI: 10.1038/Ng0695-235 |
0.315 |
|
| 1994 |
Pastores GM, Santorelli FM, Shanske S, Gelb BD, Fyfe B, Wolfe D, Willner JP. Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G) American Journal of Medical Genetics. 50: 265-271. PMID 8042671 DOI: 10.1002/Ajmg.1320500310 |
0.374 |
|
| 1993 |
Towbin JA, Hejtmancik JF, Brink P, Gelb B, Zhu XM, Chamberlain JS, McCabe ER, Swift M. X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation. 87: 1854-65. PMID 8504498 DOI: 10.1161/01.Cir.87.6.1854 |
0.317 |
|
| 1992 |
Gelb BD, Towbin JA, McCabe ER, Sujansky E. San Luis Valley recombinant chromosome 8 and tetralogy of Fallot: a review of chromosome 8 anomalies and congenital heart disease. American Journal of Medical Genetics. 40: 471-6. PMID 1746613 DOI: 10.1002/Ajmg.1320400420 |
0.333 |
|
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