| Year |
Citation |
Score |
| 2023 |
Gates RW, Webb BD, Stevenson DA, Jabs EW, DeFilippo C, Ruzhnikov MRZ, Tise CG. Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome. American Journal of Medical Genetics. Part A. PMID 37675855 DOI: 10.1002/ajmg.a.63389 |
0.311 |
|
| 2022 |
Willie D, Holmes G, Jabs EW, Wu M. Cleft Palate in Apert Syndrome. Journal of Developmental Biology. 10. PMID 35997397 DOI: 10.3390/jdb10030033 |
0.318 |
|
| 2021 |
Whitman MC, Barry BJ, Robson CD, Facio FM, Van Ryzin C, Chan WM, Lehky TJ, Thurm A, Zalewski C, King KA, Brewer C, Almpani K, Lee JS, Delaney A, FitzGibbon EJ, ... ... Jabs EW, et al. TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy. Human Genetics. PMID 34652576 DOI: 10.1007/s00439-021-02379-9 |
0.333 |
|
| 2021 |
Singh R, Cohen ASA, Poulton C, Hjortshøj TD, Akahira-Azuma M, Mendiratta G, Khan WA, Azmanov DN, Woodward KJ, Kirchhoff M, Shi L, Edelmann L, Baynam G, Scott SA, Jabs EW. Deletion of and causes abnormal skull morphology and global developmental delay. Cold Spring Harbor Molecular Case Studies. 7. PMID 34117072 DOI: 10.1101/mcs.a005991 |
0.361 |
|
| 2020 |
Lam AS, Liu CC, Deutsch GH, Rivera J, Perkins JA, Holmes G, Jabs EW, Cunningham ML, Dahl JP. Genotype-Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice. The Laryngoscope. PMID 32886384 DOI: 10.1002/Lary.29060 |
0.465 |
|
| 2020 |
Holmes G, Gonzalez-Reiche AS, Lu N, Zhou X, Rivera J, Kriti D, Sebra R, Williams AA, Donovan MJ, Potter SS, Pinto D, Zhang B, van Bakel H, Jabs EW. Integrated Transcriptome and Network Analysis Reveals Spatiotemporal Dynamics of Calvarial Suturogenesis. Cell Reports. 32: 107871. PMID 32640236 DOI: 10.1016/J.Celrep.2020.107871 |
0.332 |
|
| 2019 |
Perrine SMM, Wu M, Stephens NB, Kriti D, van Bakel H, Jabs EW, Richtsmeier JT. Mandibular dysmorphology due to abnormal embryonic osteogenesis in FGFR2-related craniosynostosis mice. Disease Models & Mechanisms. PMID 31064775 DOI: 10.1242/Dmm.038513 |
0.498 |
|
| 2019 |
Sewda A, White SR, Erazo M, Hao K, García-Fructuoso G, Fernández-Rodriguez I, Heuzé Y, Richtsmeier JT, Romitti PA, Reva B, Jabs EW, Peter I. Nonsyndromic craniosynostosis: novel coding variants. Pediatric Research. PMID 30651579 DOI: 10.1038/S41390-019-0274-2 |
0.367 |
|
| 2018 |
Holmes G, O'Rourke C, Perrine SMM, Lu N, van Bakel H, Richtsmeier JT, Jabs EW. Midface and upper airway dysgenesis in FGFR2-craniosynostosis involves multiple tissue-specific and cell cycle effects. Development (Cambridge, England). PMID 30228104 DOI: 10.1242/Dev.166488 |
0.432 |
|
| 2018 |
Holmes G, Zhang L, Rivera J, Murphy R, Assouline C, Sullivan L, Oppeneer T, Jabs EW. C-type natriuretic peptide analog treatment of craniosynostosis in a Crouzon syndrome mouse model. Plos One. 13: e0201492. PMID 30048539 DOI: 10.1371/Journal.Pone.0201492 |
0.376 |
|
| 2018 |
Reiner J, Pisani L, Qiao W, Singh R, Yang Y, Shi L, Khan WA, Sebra R, Cohen N, Babu A, Edelmann L, Jabs EW, Scott SA. Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion. Npj Genomic Medicine. 3: 3. PMID 29367880 DOI: 10.1038/S41525-017-0042-3 |
0.44 |
|
| 2017 |
Motch Perrine SM, Stecko T, Neuberger T, Jabs EW, Ryan TM, Richtsmeier JT. Integration of Brain and Skull in Prenatal Mouse Models of Apert and Crouzon Syndromes. Frontiers in Human Neuroscience. 11: 369. PMID 28790902 DOI: 10.3389/Fnhum.2017.00369 |
0.424 |
|
| 2017 |
Telegrafi A, Webb BD, Robbins SM, Speck-Martins CE, FitzPatrick D, Fleming L, Redett R, Dufke A, Houge G, van Harssel JJT, Verloes A, Robles A, Manoli I, Engle EC, ... Jabs EW, et al. Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. American Journal of Medical Genetics. Part A. PMID 28777491 DOI: 10.1002/Ajmg.A.38375 |
0.386 |
|
| 2017 |
Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, ... ... Jabs EW, et al. A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nature Communications. 8: 16077. PMID 28681861 DOI: 10.1038/Ncomms16077 |
0.429 |
|
| 2016 |
Kelly JJ, Esseltine J, Shao Q, Jabs EW, Sampson J, Auranen M, Bai D, Laird DW. Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia. Molecular Biology of the Cell. PMID 27226478 DOI: 10.1091/Mbc.E16-01-0062 |
0.442 |
|
| 2016 |
Ye X, Guilmatre A, Reva B, Peter I, Heuzé Y, Richtsmeier JT, Fox DJ, Goedken RJ, Jabs EW, Romitti PA. Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis. Plastic and Reconstructive Surgery. 137: 952-61. PMID 26910679 DOI: 10.1097/01.Prs.0000479978.75545.Ee |
0.521 |
|
| 2015 |
Bu L, Chen Q, Wang H, Zhang T, Hetmanski JB, Schwender H, Parker M, Chou YH, Yeow V, Chong SS, Zhang B, Jabs EW, Scott AF, Beaty TH. Novel evidence of association with nonsyndromic cleft lip with or without cleft palate was shown for single nucleotide polymorphisms in FOXF2 gene in an Asian population. Birth Defects Research. Part a, Clinical and Molecular Teratology. 103: 857-62. PMID 26278207 DOI: 10.1002/Bdra.23413 |
0.364 |
|
| 2014 |
Heuzé Y, Holmes G, Peter I, Richtsmeier JT, Jabs EW. Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses. Current Genetic Medicine Reports. 2: 135-145. PMID 26146596 DOI: 10.1007/S40142-014-0042-X |
0.388 |
|
| 2014 |
Chen Q, Wang H, Schwender H, Zhang T, Hetmanski JB, Chou YH, Ye X, Yeow V, Chong SS, Zhang B, Jabs EW, Parker MM, Scott AF, Beaty TH. Joint testing of genotypic and gene-environment interaction identified novel association for BMP4 with non-syndromic CL/P in an Asian population using data from an International Cleft Consortium. Plos One. 9: e109038. PMID 25303326 DOI: 10.1371/Journal.Pone.0109038 |
0.339 |
|
| 2014 |
Scott AF, Mohr DW, Kasch LM, Barton JA, Pittiglio R, Ingersoll R, Craig B, Marosy BA, Doheny KF, Bromley WC, Roderick TH, Chassaing N, Calvas P, Prabhu SS, Jabs EW. Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing. Jama Ophthalmology. 132: 1215-20. PMID 24993872 DOI: 10.1001/Jamaophthalmol.2014.1731 |
0.403 |
|
| 2014 |
VanderMeer JE, Lozano R, Sun M, Xue Y, Daentl D, Jabs EW, Wilcox WR, Ahituv N. A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form. Human Mutation. 35: 945-8. PMID 24777739 DOI: 10.1002/Humu.22581 |
0.505 |
|
| 2014 |
Heuzé Y, Singh N, Basilico C, Jabs EW, Holmes G, Richtsmeier JT. Morphological comparison of the craniofacial phenotypes of mouse models expressing the Apert FGFR2 S252W mutation in neural crest- or mesoderm-derived tissues. Bone. 63: 101-9. PMID 24632501 DOI: 10.1016/J.Bone.2014.03.003 |
0.45 |
|
| 2014 |
Motch Perrine SM, Cole TM, Martínez-Abadías N, Aldridge K, Jabs EW, Richtsmeier JT. Craniofacial divergence by distinct prenatal growth patterns in Fgfr2 mutant mice. Bmc Developmental Biology. 14: 8. PMID 24580805 DOI: 10.1186/1471-213X-14-8 |
0.48 |
|
| 2014 |
Wu T, Schwender H, Ruczinski I, Murray JC, Marazita ML, Munger RG, Hetmanski JB, Parker MM, Wang P, Murray T, Taub M, Li S, Redett RJ, Fallin MD, Liang KY, ... ... Jabs EW, et al. Evidence of gene-environment interaction for two genes on chromosome 4 and environmental tobacco smoke in controlling the risk of nonsyndromic cleft palate. Plos One. 9: e88088. PMID 24516586 DOI: 10.1371/Journal.Pone.0088088 |
0.309 |
|
| 2014 |
Vandermeer JE, Lozano R, Sun M, Xue Y, Daentl D, Jabs EW, Wilcox WR, Ahituv N. A Novel ZRS Mutation Leads to Preaxial Polydactyly Type 2 in a Heterozygous Form and Werner Mesomelic Syndrome in a Homozygous Form Human Mutation. 35: 945-948. DOI: 10.1002/humu.22581 |
0.382 |
|
| 2013 |
Yeh E, Fanganiello RD, Sunaga DY, Zhou X, Holmes G, Rocha KM, Alonso N, Matushita H, Wang Y, Jabs EW, Passos-Bueno MR. Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome. Plos One. 8: e60439. PMID 23593218 DOI: 10.1371/Journal.Pone.0060439 |
0.469 |
|
| 2013 |
MartÃnez-AbadÃas N, Holmes G, Pankratz T, Wang Y, Zhou X, Jabs EW, Richtsmeier JT. From shape to cells: mouse models reveal mechanisms altering palate development in Apert syndrome. Disease Models & Mechanisms. 6: 768-79. PMID 23519026 DOI: 10.1242/Dmm.010397 |
0.484 |
|
| 2013 |
Hill CA, MartÃnez-AbadÃas N, Motch SM, Austin JR, Wang Y, Jabs EW, Richtsmeier JT, Aldridge K. Postnatal brain and skull growth in an Apert syndrome mouse model. American Journal of Medical Genetics. Part A. 161: 745-57. PMID 23495236 DOI: 10.1002/Ajmg.A.35805 |
0.372 |
|
| 2013 |
Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF, Jabs EW, Hunter DG, et al. A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. Brain : a Journal of Neurology. 136: 522-35. PMID 23378218 DOI: 10.1093/Brain/Aws345 |
0.495 |
|
| 2013 |
Martínez-Abadías N, Motch SM, Pankratz TL, Wang Y, Aldridge K, Jabs EW, Richtsmeier JT. Tissue-specific responses to aberrant FGF signaling in complex head phenotypes. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 242: 80-94. PMID 23172727 DOI: 10.1002/Dvdy.23903 |
0.426 |
|
| 2013 |
Wang H, Zhang T, Wu T, Hetmanski JB, Ruczinski I, Schwender H, Liang KY, Murray T, Fallin MD, Redett RJ, Raymond GV, Jin SC, Chou YH, Chen PK, Yeow V, ... ... Jabs EW, et al. The FGF and FGFR Gene Family and Risk of Cleft Lip With or Without Cleft Palate. The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association. 50: 96-103. PMID 22074045 DOI: 10.1597/11-132 |
0.333 |
|
| 2012 |
Percival CJ, Wang Y, Zhou X, Jabs EW, Richtsmeier JT. The effect of a Beare-Stevenson syndrome Fgfr2 Y394C mutation on early craniofacial bone volume and relative bone mineral density in mice. Journal of Anatomy. 221: 434-42. PMID 22881429 DOI: 10.1111/J.1469-7580.2012.01555.X |
0.304 |
|
| 2012 |
Webb BD, Shaaban S, Gaspar H, Cunha LF, Schubert CR, Hao K, Robson CD, Chan WM, Andrews C, MacKinnon S, Oystreck DT, Hunter DG, Iacovelli AJ, Ye X, Camminady A, ... ... Jabs EW, et al. HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. American Journal of Human Genetics. 91: 171-9. PMID 22770981 DOI: 10.1016/J.Ajhg.2012.05.018 |
0.441 |
|
| 2012 |
Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, ... ... Jabs EW, et al. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. American Journal of Human Genetics. 91: 56-72. PMID 22770980 DOI: 10.1016/J.Ajhg.2012.05.005 |
0.415 |
|
| 2012 |
Wu RL, Lawson CS, Jabs EW, Sanderson SC. Attitudes toward prenatal genetic testing for Treacher Collins syndrome among affected individuals and families. American Journal of Medical Genetics. Part A. 1556-67. PMID 22628272 DOI: 10.1002/Ajmg.A.35379 |
0.372 |
|
| 2012 |
Wang Y, Zhou X, Oberoi K, Phelps R, Couwenhoven R, Sun M, Rezza A, Holmes G, Percival CJ, Friedenthal J, Krejci P, Richtsmeier JT, Huso DL, Rendl M, Jabs EW. p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice. The Journal of Clinical Investigation. 122: 2153-64. PMID 22585574 DOI: 10.1172/Jci62644 |
0.388 |
|
| 2012 |
Chassaing N, Sorrentino S, Davis EE, Martin-Coignard D, Iacovelli A, Paznekas W, Webb BD, Faye-Petersen O, Encha-Razavi F, Lequeux L, Vigouroux A, Yesilyurt A, Boyadjiev SA, Kayserili H, Loget P, ... ... Jabs EW, et al. OTX2 mutations contribute to the otocephaly-dysgnathia complex. Journal of Medical Genetics. 49: 373-9. PMID 22577225 DOI: 10.1136/Jmedgenet-2012-100892 |
0.4 |
|
| 2012 |
Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, et al. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. American Journal of Human Genetics. 90: 925-33. PMID 22541558 DOI: 10.1016/J.Ajhg.2012.04.004 |
0.494 |
|
| 2012 |
Chen Q, Wang H, Hetmanski JB, Zhang T, Ruczinski I, Schwender H, Liang KY, Fallin MD, Redett RJ, Raymond GV, Wu Chou YH, Chen PK, Yeow V, Chong SS, Cheah FS, ... Jabs EW, et al. BMP4 was associated with NSCL/P in an Asian population. Plos One. 7: e35347. PMID 22514733 DOI: 10.1371/Journal.Pone.0035347 |
0.306 |
|
| 2012 |
Wang H, Hetmanski JB, Ruczinski I, Liang KY, Fallin MD, Redett RJ, Raymond GV, Chou YH, Chen PK, Yeow V, Chong SS, Cheah FSh, Jabs EW, Scott AF, Beaty TH. ROR2 gene is associated with risk of non-syndromic cleft palate in an Asian population. Chinese Medical Journal. 125: 476-80. PMID 22490406 DOI: 10.3760/Cma.J.Issn.0366-6999.2012.03.014 |
0.406 |
|
| 2011 |
Martínez-Abadías N, Heuzé Y, Wang Y, Jabs EW, Aldridge K, Richtsmeier JT. FGF/FGFR signaling coordinates skull development by modulating magnitude of morphological integration: evidence from Apert syndrome mouse models. Plos One. 6: e26425. PMID 22053191 DOI: 10.1371/Journal.Pone.0026425 |
0.449 |
|
| 2011 |
Beaty TH, Ruczinski I, Murray JC, Marazita ML, Munger RG, Hetmanski JB, Murray T, Redett RJ, Fallin MD, Liang KY, Wu T, Patel PJ, Jin SC, Zhang TX, Schwender H, ... ... Jabs EW, et al. Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate. Genetic Epidemiology. 35: 469-78. PMID 21618603 DOI: 10.1002/Gepi.20595 |
0.307 |
|
| 2010 |
Melville H, Wang Y, Taub PJ, Jabs EW. Genetic basis of potential therapeutic strategies for craniosynostosis. American Journal of Medical Genetics. Part A. 152: 3007-15. PMID 21082653 DOI: 10.1002/Ajmg.A.33703 |
0.454 |
|
| 2010 |
MartÃnez-AbadÃas N, Percival C, Aldridge K, Hill CA, Ryan T, Sirivunnabood S, Wang Y, Jabs EW, Richtsmeier JT. Beyond the closed suture in apert syndrome mouse models: evidence of primary effects of FGFR2 signaling on facial shape at birth. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 239: 3058-71. PMID 20842696 DOI: 10.1002/Dvdy.22414 |
0.475 |
|
| 2010 |
Wu T, Liang KY, Hetmanski JB, Ruczinski I, Fallin MD, Ingersoll RG, Wang H, Huang S, Ye X, Wu-Chou YH, Chen PK, Jabs EW, Shi B, Redett R, Scott AF, et al. Evidence of gene-environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate. Human Genetics. 128: 401-10. PMID 20652317 DOI: 10.1007/S00439-010-0863-Y |
0.312 |
|
| 2010 |
Beaty TH, Murray JC, Marazita ML, Munger RG, Ruczinski I, Hetmanski JB, Liang KY, Wu T, Murray T, Fallin MD, Redett RA, Raymond G, Schwender H, Jin SC, Cooper ME, ... ... Jabs EW, et al. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nature Genetics. 42: 525-9. PMID 20436469 DOI: 10.1038/Ng.580 |
0.315 |
|
| 2010 |
Wang Y, Sun M, Uhlhorn VL, Zhou X, Peter I, Martinez-Abadias N, Hill CA, Percival CJ, Richtsmeier JT, Huso DL, Jabs EW. Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2(+P253R) mice. Bmc Developmental Biology. 10: 22. PMID 20175913 DOI: 10.1186/1471-213X-10-22 |
0.459 |
|
| 2010 |
Ingersoll RG, Hetmanski J, Park JW, Fallin MD, McIntosh I, Wu-Chou YH, Chen PK, Yeow V, Chong SS, Cheah F, Sull JW, Jee SH, Wang H, Wu T, Murray T, ... ... Jabs EW, et al. Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations. European Journal of Human Genetics : Ejhg. 18: 726-32. PMID 20087401 DOI: 10.1038/Ejhg.2009.228 |
0.424 |
|
| 2010 |
Aldridge K, Hill CA, Austin JR, Percival C, Martinez-Abadias N, Neuberger T, Wang Y, Jabs EW, Richtsmeier JT. Brain phenotypes in two FGFR2 mouse models for Apert syndrome. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 239: 987-97. PMID 20077479 DOI: 10.1002/Dvdy.22218 |
0.44 |
|
| 2010 |
Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. Exome sequencing identifies the cause of a mendelian disorder. Nature Genetics. 42: 30-5. PMID 19915526 DOI: 10.1038/Ng.499 |
0.417 |
|
| 2010 |
Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, Uzielli ML, Schnur RE, Manouvrier S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, ... ... Jabs EW, et al. Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. Journal of Medical Genetics. 47: 30-7. PMID 19574259 DOI: 10.1136/jmg.2009.068395 |
0.415 |
|
| 2009 |
Chtchetinin J, Gifford WD, Li S, Paznekas WA, Jabs EW, Lai A. Tyrosine-dependent basolateral targeting of human connexin43-eYFP in Madin-Darby canine kidney cells can be disrupted by the oculodentodigital dysplasia mutation L90V. The Febs Journal. 276: 6992-7005. PMID 19860828 DOI: 10.1111/J.1742-4658.2009.07407.X |
0.354 |
|
| 2009 |
Yoon SR, Qin J, Glaser RL, Jabs EW, Wexler NS, Sokol R, Arnheim N, Calabrese P. The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect. Plos Genetics. 5: e1000558. PMID 19593369 DOI: 10.1371/Journal.Pgen.1000558 |
0.815 |
|
| 2009 |
Yeo GH, Cheah FS, Winkler C, Jabs EW, Venkatesh B, Chong SS. Phylogenetic and evolutionary relationships and developmental expression patterns of the zebrafish twist gene family. Development Genes and Evolution. 219: 289-300. PMID 19565261 DOI: 10.1007/S00427-009-0290-Z |
0.39 |
|
| 2009 |
Sull JW, Liang KY, Hetmanski JB, Wu T, Fallin MD, Ingersoll RG, Park JW, Wu-Chou YH, Chen PK, Chong SS, Cheah F, Yeow V, Park BY, Jee SH, Jabs EW, et al. Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms. Human Genetics. 126: 385-94. PMID 19444471 DOI: 10.1007/S00439-009-0680-3 |
0.312 |
|
| 2009 |
Paznekas WA, Karczeski B, Vermeer S, Lowry RB, Delatycki M, Laurence F, Koivisto PA, Van Maldergem L, Boyadjiev SA, Bodurtha JN, Jabs EW. GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. Human Mutation. 30: 724-33. PMID 19338053 DOI: 10.1002/Humu.20958 |
0.504 |
|
| 2009 |
Sull JW, Liang KY, Hetmanski JB, Fallin MD, Ingersoll RG, Park J, Wu-Chou YH, Chen PK, Chong SS, Cheah F, Yeow V, Park BY, Jee SH, Jabs EW, Redett R, et al. Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations. European Journal of Human Genetics : Ejhg. 17: 831-9. PMID 19142206 DOI: 10.1038/Ejhg.2008.250 |
0.323 |
|
| 2008 |
Gordillo M, Vega H, Trainer AH, Hou F, Sakai N, Luque R, Kayserili H, Basaran S, Skovby F, Hennekam RC, Uzielli ML, Schnur RE, Manouvrier S, Chang S, Blair E, ... ... Jabs EW, et al. The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Human Molecular Genetics. 17: 2172-80. PMID 18411254 DOI: 10.1093/Hmg/Ddn116 |
0.511 |
|
| 2008 |
Yang F, Wang Y, Zhang Z, Hsu B, Jabs EW, Elisseeff JH. The study of abnormal bone development in the Apert syndrome Fgfr2+/S252W mouse using a 3D hydrogel culture model. Bone. 43: 55-63. PMID 18407821 DOI: 10.1016/J.Bone.2008.02.008 |
0.389 |
|
| 2007 |
Park JW, McIntosh I, Hetmanski JB, Jabs EW, Vander Kolk CA, Wu-Chou YH, Chen PK, Chong SS, Yeow V, Jee SH, Park BY, Fallin MD, Ingersoll R, Scott AF, Beaty TH. Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 9: 219-27. PMID 17438386 DOI: 10.1097/Gim.0B013E3180423Cca |
0.324 |
|
| 2007 |
Zhao X, Sun M, Zhao J, Leyva JA, Zhu H, Yang W, Zeng X, Ao Y, Liu Q, Liu G, Lo WH, Jabs EW, Amzel LM, Shan X, Zhang X. Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. American Journal of Human Genetics. 80: 361-71. PMID 17236141 DOI: 10.1086/511387 |
0.445 |
|
| 2006 |
Beaty TH, Hetmanski JB, Fallin MD, Park JW, Sull JW, McIntosh I, Liang KY, Vanderkolk CA, Redett RJ, Boyadjiev SA, Jabs EW, Chong SS, Cheah FS, Wu-Chou YH, Chen PK, et al. Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations. Human Genetics. 120: 501-18. PMID 16953426 DOI: 10.1007/S00439-006-0235-9 |
0.334 |
|
| 2006 |
Griffith AJ, Yang Y, Pryor SP, Park HJ, Jabs EW, Nadol JB, Russell LJ, Wasserman DI, Richard G, Adams JC, Merchant SN. Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome. The Laryngoscope. 116: 1404-8. PMID 16885744 DOI: 10.1097/01.Mlg.0000224549.75161.Ca |
0.478 |
|
| 2006 |
Wyrobek AJ, Eskenazi B, Young S, Arnheim N, Tiemann-Boege I, Jabs EW, Glaser RL, Pearson FS, Evenson D. Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm. Proceedings of the National Academy of Sciences of the United States of America. 103: 9601-6. PMID 16766665 DOI: 10.1073/Pnas.0506468103 |
0.815 |
|
| 2006 |
Jehee FS, Alonso LG, Cavalcanti DP, Kim C, Wall SA, Mulliken JB, Sun M, Jabs EW, Boyadjiev SA, Wilkie AO, Passos-Bueno MR. Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients. The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association. 43: 148-51. PMID 16526918 DOI: 10.1597/04-206.1 |
0.439 |
|
| 2006 |
Lai A, Le DN, Paznekas WA, Gifford WD, Jabs EW, Charles AC. Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells. Journal of Cell Science. 119: 532-41. PMID 16418219 DOI: 10.1242/Jcs.02770 |
0.404 |
|
| 2006 |
Park JW, Cai J, McIntosh I, Jabs EW, Fallin MD, Ingersoll R, Hetmanski JB, Vekemans M, Attie-Bitach T, Lovett M, Scott AF, Beaty TH. High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts. Journal of Medical Genetics. 43: 598-608. PMID 16415175 DOI: 10.1136/Jmg.2005.040162 |
0.792 |
|
| 2006 |
Ye X, Song G, Fan M, Shi L, Jabs EW, Huang S, Guo R, Bian Z. A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. Human Genetics. 119: 199-205. PMID 16404586 DOI: 10.1007/S00439-005-0129-2 |
0.554 |
|
| 2006 |
Van Maldergem L, Siitonen HA, Jalkh N, Chouery E, De Roy M, Delague V, Muenke M, Jabs EW, Cai J, Wang LL, Plon SE, Fourneau C, Kestilä M, Gillerot Y, Mégarbané A, et al. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. Journal of Medical Genetics. 43: 148-52. PMID 15964893 DOI: 10.1136/Jmg.2005.031781 |
0.827 |
|
| 2006 |
Frebourg T, Oliveira C, Hochain P, Karam R, Manouvrier S, Graziadio C, Vekemans M, Hartmann A, Baert-Desurmont S, Alexandre C, Lejeune Dumoulin S, Marroni C, Martin C, Castedo S, Lovett M, ... ... Jabs EW, et al. Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. Journal of Medical Genetics. 43: 138-42. PMID 15831593 DOI: 10.1136/Jmg.2005.031385 |
0.8 |
|
| 2006 |
Wyrobek AJ, Eskenazi B, Young S, Arnheim N, Tiemann-Boege I, Jabs EW, Glaser RL, Pearson FS, Evenson D. Advancing Age Has Differential Effects on DNA Damage, Chromatin Integrity, Gene Mutations, and Aneuploidies in Sperm Obstetrical & Gynecological Survey. 61: 648-649. DOI: 10.1097/01.Ogx.0000238646.91712.3E |
0.8 |
|
| 2005 |
Cai J, Jabs EW. A twisted hand: bHLH protein phosphorylation and dimerization regulate limb development. Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology. 27: 1102-6. PMID 16237669 DOI: 10.1002/Bies.20313 |
0.787 |
|
| 2005 |
Wang Y, Xiao R, Yang F, Karim BO, Iacovelli AJ, Cai J, Lerner CP, Richtsmeier JT, Leszl JM, Hill CA, Yu K, Ornitz DM, Elisseeff J, Huso DL, Jabs EW. Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse. Development (Cambridge, England). 132: 3537-48. PMID 15975938 DOI: 10.1242/Dev.01914 |
0.805 |
|
| 2005 |
Ben J, Jabs EW, Chong SS. Genomic, cDNA and embryonic expression analysis of zebrafish IRF6, the gene mutated in the human oral clefting disorders Van der Woude and popliteal pterygium syndromes. Gene Expression Patterns : Gep. 5: 629-38. PMID 15939375 DOI: 10.1016/J.Modgep.2005.03.002 |
0.413 |
|
| 2005 |
Shibayama J, Paznekas W, Seki A, Taffet S, Jabs EW, Delmar M, Musa H. Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia. Circulation Research. 96: e83-91. PMID 15879313 DOI: 10.1161/01.Res.0000168369.79972.D2 |
0.467 |
|
| 2005 |
Jehee FS, Johnson D, Alonso LG, Cavalcanti DP, de Sá Moreira E, Alberto FL, Kok F, Kim C, Wall SA, Jabs EW, Boyadjiev SA, Wilkie AO, Passos-Bueno MR. Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly. Clinical Genetics. 67: 503-10. PMID 15857417 DOI: 10.1111/J.1399-0004.2005.00438.X |
0.407 |
|
| 2005 |
Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H. Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nature Genetics. 37: 468-70. PMID 15821733 DOI: 10.1038/Ng1548 |
0.514 |
|
| 2005 |
Huang N, Pandey AV, Agrawal V, Reardon W, Lapunzina PD, Mowat D, Jabs EW, Van Vliet G, Sack J, Flück CE, Miller WL. Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. American Journal of Human Genetics. 76: 729-49. PMID 15793702 DOI: 10.1086/429417 |
0.514 |
|
| 2005 |
Cheah FS, Jabs EW, Chong SS. Genomic, cDNA, and embryonic expression analysis of zebrafish transforming growth factor beta 3 (tgfbeta3). Developmental Dynamics : An Official Publication of the American Association of Anatomists. 232: 1021-30. PMID 15739231 DOI: 10.1002/Dvdy.20282 |
0.329 |
|
| 2005 |
Cai J, Ash D, Kotch LE, Jabs EW, Attie-Bitach T, Auge J, Mattei G, Etchevers H, Vekemans M, Korshunova Y, Tidwell R, Messina DN, Winston JB, Lovett M. Gene expression in pharyngeal arch 1 during human embryonic development. Human Molecular Genetics. 14: 903-12. PMID 15703188 DOI: 10.1093/Hmg/Ddi083 |
0.777 |
|
| 2004 |
Kates WR, Burnette CP, Bessette BA, Folley BS, Strunge L, Jabs EW, Pearlson GD. Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2). Journal of Child Neurology. 19: 337-42. PMID 15224707 DOI: 10.1177/088307380401900506 |
0.359 |
|
| 2004 |
Shoo BA, McPherson E, Jabs EW. Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome. American Journal of Medical Genetics. Part A. 84-8. PMID 15039977 DOI: 10.1002/Ajmg.A.20488 |
0.517 |
|
| 2004 |
Flück CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, Jabs EW, Mendonça BB, Fujieda K, Miller WL. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nature Genetics. 36: 228-30. PMID 14758361 DOI: 10.1038/Ng1300 |
0.409 |
|
| 2004 |
Glaser RL, Jabs EW. Dear old dad. Science of Aging Knowledge Environment : Sage Ke. 2004: re1. PMID 14736914 DOI: 10.1126/Sageke.2004.3.Re1 |
0.816 |
|
| 2004 |
Splendore A, Jabs EW, Félix TM, Passos-Bueno MR. Parental origin of mutations in sporadic cases of Treacher Collins syndrome. European Journal of Human Genetics : Ejhg. 11: 718-22. PMID 12939661 DOI: 10.1038/Sj.Ejhg.5201029 |
0.47 |
|
| 2003 |
Cai J, Goodman BK, Patel AS, Mulliken JB, Van Maldergem L, Hoganson GE, Paznekas WA, Ben-Neriah Z, Sheffer R, Cunningham ML, Daentl DL, Jabs EW. Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening. Human Genetics. 114: 68-76. PMID 14513358 DOI: 10.1007/S00439-003-1012-7 |
0.831 |
|
| 2003 |
Glaser RL, Broman KW, Schulman RL, Eskenazi B, Wyrobek AJ, Jabs EW. The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm. American Journal of Human Genetics. 73: 939-47. PMID 12900791 DOI: 10.1086/378419 |
0.809 |
|
| 2003 |
Cai J, Shoo BA, Sorauf T, Jabs EW. A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. Clinical Genetics. 64: 79-82. PMID 12791045 DOI: 10.1034/J.1399-0004.2003.00098.X |
0.82 |
|
| 2003 |
Boyadjiev SA, Justice CM, Eyaid W, McKusick VA, Lachman RS, Chowdry AB, Jabak M, Zwaan J, Wilson AF, Jabs EW. A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21. Human Genetics. 113: 1-9. PMID 12677423 DOI: 10.1007/S00439-003-0932-6 |
0.404 |
|
| 2003 |
Hoover-Fong JE, Cai J, Cargile CB, Thomas GH, Patel A, Griffin CA, Jabs EW, Hamosh A. Facial dysgenesis: a novel facial syndrome with chromosome 7 deletion p15.1-21.1. American Journal of Medical Genetics. Part A. 117: 47-56. PMID 12548740 DOI: 10.1002/Ajmg.A.10046 |
0.818 |
|
| 2003 |
Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. American Journal of Human Genetics. 72: 408-18. PMID 12457340 DOI: 10.1086/346090 |
0.467 |
|
| 2003 |
Splendore A, Passos-Bueno MR, Jabs EW, Van Maldergem L, Wulfsberg EA. TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders. American Journal of Medical Genetics. 111: 324-7. PMID 12210332 DOI: 10.1002/Ajmg.10567 |
0.399 |
|
| 2002 |
Cai J, Ash D, Jabs EW. SAGE analysis from 1 microg of total RNA Current Protocols in Cell Biology / Editorial Board, Juan S. Bonifacino ... [Et Al.]. PMID 18228401 DOI: 10.1002/0471143030.Cb1904S16 |
0.751 |
|
| 2002 |
Boyadjiev SA, Chowdry AB, Shapiro RE, Paznekas WA, Wandstrat AE, Choi JW, Kasch L, Zhang G, Wollnik B, Burgess CE, Schalling M, Lovett M, Jabs EW. Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphisms. Cytogenetic and Genome Research. 98: 29-37. PMID 12584438 DOI: 10.1159/000068535 |
0.424 |
|
| 2002 |
Zeiger JS, Beaty TH, Hetmanski JB, Wang H, Scott AF, Kasch L, Raymond G, Jabs EW, VanderKolk C. Genetic and environmental risk factors for sagittal craniosynostosis. The Journal of Craniofacial Surgery. 13: 602-6. PMID 12218784 DOI: 10.1097/00001665-200209000-00002 |
0.336 |
|
| 2002 |
Kelley RI, Kratz LE, Glaser RL, Netzloff ML, Wolf LM, Jabs EW. Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. American Journal of Medical Genetics. 110: 95-102. PMID 12116245 DOI: 10.1002/Ajmg.10510 |
0.821 |
|
| 2002 |
Splendore A, Jabs EW, Passos-Bueno MR. Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle. Journal of Medical Genetics. 39: 493-5. PMID 12114482 DOI: 10.1136/Jmg.39.7.493 |
0.523 |
|
| 2002 |
Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynänen M, Jabs EW, Bale SJ, DiGiovanna JJ, Uitto J, Russell L. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. American Journal of Human Genetics. 70: 1341-8. PMID 11912510 DOI: 10.1086/339986 |
0.52 |
|
| 2002 |
Kelley RI, Kratz LE, Glaser RL, Netzloff ML, Wolf LM, Jabs EW. Erratum: Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype (American Journal of Medical Genetics (2001) 104 (277-281)) American Journal of Medical Genetics. 110. DOI: 10.1002/Ajmg.10470 |
0.787 |
|
| 2001 |
Ingersoll RG, Paznekas WA, Tran AK, Scott AF, Jiang G, Jabs EW. Fibroblast growth factor receptor 2 (FGFR2): genomic sequence and variations. Cytogenetics and Cell Genetics. 94: 121-6. PMID 11856867 DOI: 10.1159/000048802 |
0.348 |
|
| 2001 |
Lowry RB, Jabs EW, Graham GE, Gerritsen J, Fleming J. Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene. American Journal of Medical Genetics. 104: 112-9. PMID 11746040 DOI: 10.1002/Ajmg.10049 |
0.407 |
|
| 2001 |
De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, Courtens W, Hjalgrim H, Huang S, Liebaers I, Van Regemorter N, et al. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. Human Molecular Genetics. 10: 1591-600. PMID 11468277 DOI: 10.1093/Hmg/10.15.1591 |
0.496 |
|
| 2001 |
Schweitzer DN, Graham JM, Lachman RS, Jabs EW, Okajima K, Przylepa KA, Shanske A, Chen K, Neidich JA, Wilcox WR. Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. American Journal of Medical Genetics. 98: 75-91. PMID 11426459 DOI: 10.1002/1096-8628(20010101)98:1<75::Aid-Ajmg1010>3.0.Co;2-6 |
0.39 |
|
| 2001 |
Jabs EW. A TWIST in the fate of human osteoblasts identifies signaling molecules involved in skull development. The Journal of Clinical Investigation. 107: 1075-7. PMID 11342569 DOI: 10.1172/Jci12853 |
0.438 |
|
| 2001 |
Kates WR, Burnette CP, Jabs EW, Rutberg J, Murphy AM, Grados M, Geraghty M, Kaufmann WE, Pearlson GD. Regional cortical white matter reductions in velocardiofacial syndrome: a volumetric MRI analysis. Biological Psychiatry. 49: 677-84. PMID 11313035 DOI: 10.1016/S0006-3223(00)01002-7 |
0.334 |
|
| 2001 |
Okajima K, Paznekas WA, Burstyn T, Jabs EW. Polymorphisms in the Human SNAIL (SNAI1) gene. Molecular and Cellular Probes. 15: 53-5. PMID 11162080 DOI: 10.1006/Mcpr.2000.0332 |
0.323 |
|
| 2001 |
Fidler C, Nakayama M, Jabs EW, Cheng J, Strickson A, Ohara O, Wainscoat JS, Boultwood J. Physical mapping of the MEGF1 gene, human homologue of the Drosophila tumour suppressor gene fat, to the critical region of the 5q-syndrome Genescreen. 1: 165-167. DOI: 10.1046/J.1466-9218.2001.00015.X |
0.415 |
|
| 2000 |
Norris RA, Scott KK, Moore CS, Stetten G, Brown CR, Jabs EW, Wulfsberg EA, Yu J, Kern MJ. Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 11: 1000-5. PMID 11063257 DOI: 10.1007/S003350010193 |
0.463 |
|
| 2000 |
Isaac C, Marsh KL, Paznekas WA, Dixon J, Dixon MJ, Jabs EW, Meier UT. Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome. Molecular Biology of the Cell. 11: 3061-71. PMID 10982400 DOI: 10.1091/MBC.11.9.3061 |
0.376 |
|
| 2000 |
Boultwood J, Strickson AJ, Jabs EW, Cheng JF, Fidler C, Wainscoat JS. Physical mapping of the human ATX1 homologue (HAH1) to the critical region of the 5q- syndrome within 5q32, and immediately adjacent to the SPARC gene. Human Genetics. 106: 127-9. PMID 10982193 DOI: 10.1007/S004399900215 |
0.408 |
|
| 2000 |
McIntosh I, Bellus GA, Jabs EW. The pleiotropic effects of fibroblast growth factor receptors in mammalian development. Cell Structure and Function. 25: 85-96. PMID 10885578 DOI: 10.1247/Csf.25.85 |
0.431 |
|
| 2000 |
Krasner A, Wallace L, Thiagalingam A, Jones C, Lengauer C, Minahan L, Ma Y, Kalikin L, Feinberg AP, Jabs EW, Tunnacliffe A, Baylin SB, Ball DW, Nelkin BD. Cloning and chromosomal localization of the human BARX2 homeobox protein gene. Gene. 250: 171-80. PMID 10854790 DOI: 10.1016/S0378-1119(00)00169-4 |
0.422 |
|
| 2000 |
Boyadjiev SA, Jabs EW. Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders. Clinical Genetics. 57: 253-66. PMID 10845565 DOI: 10.1034/j.1399-0004.2000.570403.x |
0.356 |
|
| 2000 |
Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, Johnson D, Walsh S, Oldridge M, Wall SA, Wilkie AO, Jabs EW. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. American Journal of Human Genetics. 66: 768-77. PMID 10712195 DOI: 10.1086/302831 |
0.835 |
|
| 1999 |
Ferreira JC, Carter SM, Bernstein PS, Jabs EW, Glickstein JS, Marion RW, Baergen RN, Gross SJ. Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings. Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology. 14: 426-30. PMID 10658283 DOI: 10.1046/J.1469-0705.1999.14060426.X |
0.433 |
|
| 1999 |
Sigurdardottir S, Goodman BK, Rutberg J, Thomas GH, Jabs EW, Geraghty MT. Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of 'complete ring' syndrome American Journal of Medical Genetics. 87: 384-390. PMID 10594875 DOI: 10.1002/(Sici)1096-8628(19991222)87:5<384::Aid-Ajmg3>3.0.Co;2-R |
0.346 |
|
| 1999 |
Paznekas WA, Okajima K, Schertzer M, Wood S, Jabs EW. Genomic organization, expression, and chromosome location of the human SNAIL gene (SNAI1) and a related processed pseudogene (SNAI1P). Genomics. 62: 42-9. PMID 10585766 DOI: 10.1006/Geno.1999.6010 |
0.414 |
|
| 1999 |
Passos-Bueno MR, Wilcox WR, Jabs EW, Sertié AL, Alonso LG, Kitoh H. Clinical spectrum of fibroblast growth factor receptor mutations. Human Mutation. 14: 115-125. PMID 10425034 DOI: 10.1002/(Sici)1098-1004(1999)14:2<115::Aid-Humu3>3.0.Co;2-2 |
0.514 |
|
| 1999 |
Okajima K, Robinson LK, Hart MA, Abuelo DN, Cowan LS, Hasegawa T, Maumenee IH, Jabs EW. Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. American Journal of Medical Genetics. 85: 160-70. PMID 10406670 DOI: 10.1002/(Sici)1096-8628(19990716)85:2<160::Aid-Ajmg11>3.0.Co;2-R |
0.494 |
|
| 1999 |
Bellus GA, Bamshad MJ, Przylepa KA, Dorst J, Lee RR, Hurko O, Jabs EW, Curry CJ, Wilcox WR, Lachman RS, Rimoin DL, Francomano CA. Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3. American Journal of Medical Genetics. 85: 53-65. PMID 10377013 DOI: 10.1002/(Sici)1096-8628(19990702)85:1<53::Aid-Ajmg10>3.0.Co;2-F |
0.467 |
|
| 1999 |
Boyadjiev SA, Jabs EW, LaBuda M, Jamal JE, Torbergsen T, Ptácek LJ, Rogers RC, Nyberg-Hansen R, Opjordsmoen S, Zeller CB, Stine OC, Stalker HJ, Zori RT, Shapiro RE. Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23. Genomics. 58: 34-40. PMID 10331943 DOI: 10.1006/Geno.1999.5814 |
0.381 |
|
| 1999 |
Kovach MJ, Lin JP, Boyadjiev S, Campbell K, Mazzeo L, Herman K, Rimer LA, Frank W, Llewellyn B, Jabs EW, Gelber D, Kimonis VE. A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. American Journal of Human Genetics. 64: 1580-93. PMID 10330345 DOI: 10.1086/302420 |
0.434 |
|
| 1999 |
Tavormina PL, Bellus GA, Webster MK, Bamshad MJ, Fraley AE, McIntosh I, Szabo J, Jiang W, Jabs EW, Wilcox WR, Wasmuth JJ, Donoghue DJ, Thompson LM, Francomano CA. A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. American Journal of Human Genetics. 64: 722-31. PMID 10053006 DOI: 10.1086/302275 |
0.485 |
|
| 1999 |
Oldridge M, Zackai EH, McDonald-McGinn DM, Iseki S, Morriss-Kay GM, Twigg SR, Johnson D, Wall SA, Jiang W, Theda C, Jabs EW, Wilkie AO. De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. American Journal of Human Genetics. 64: 446-61. PMID 9973282 DOI: 10.1086/302245 |
0.509 |
|
| 1999 |
Kimonis VE, Kovach MJ, Lin J, Boyadjiev S, Campbell K, Mazzeo L, Herman K, Frank W, Llewellyn B, Jabs EW, Gelber D. A unique point mutation in the PMP22 gene is associated with Deafness, Charcot-Marie-Tooth and Anticipation Genetics in Medicine. 1: 44-44. DOI: 10.1097/00125817-199901000-00018 |
0.473 |
|
| 1998 |
Brant SR, Fu Y, Fields CT, Baltazar R, Ravenhill G, Pickles MR, Rohal PM, Mann J, Kirschner BS, Jabs EW, Bayless TM, Hanauer SB, Cho JH. American families with Crohn's disease have strong evidence for linkage to chromosome 16 but not chromosome 12. Gastroenterology. 115: 1056-61. PMID 9797357 DOI: 10.1016/S0016-5085(98)70073-3 |
0.311 |
|
| 1998 |
Flanagan N, Boyadjiev SA, Harper J, Kyne L, Earley M, Watson R, Jabs EW, Geraghty MT. Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome Journal of Medical Genetics. 35: 763-766. PMID 9733036 DOI: 10.1136/Jmg.35.9.763 |
0.509 |
|
| 1998 |
Cohen ME, Yin M, Paznekas WA, Schertzer M, Wood S, Jabs EW. Human SLUG gene organization, expression, and chromosome map location on 8q. Genomics. 51: 468-71. PMID 9721220 DOI: 10.1006/Geno.1998.5367 |
0.351 |
|
| 1998 |
Graham JM, Braddock SR, Mortier GR, Lachman R, Van Dop C, Jabs EW. Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. American Journal of Medical Genetics. 77: 322-9. PMID 9600744 DOI: 10.1002/(Sici)1096-8628(19980526)77:4<322::Aid-Ajmg14>3.0.Co;2-K |
0.429 |
|
| 1998 |
Paznekas WA, Cunningham ML, Howard TD, Korf BR, Lipson MH, Grix AW, Feingold M, Goldberg R, Borochowitz Z, Aleck K, Mulliken J, Yin M, Jabs EW. Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations American Journal of Human Genetics. 62: 1370-1380. PMID 9585583 DOI: 10.1086/301855 |
0.527 |
|
| 1998 |
Filkins K, Russo JF, Boehmer S, Camous M, Przylepa KA, Jiang W, Jabs EW. Prenatal ultrasonographic and molecular diagnosis of Apert syndrome. Prenatal Diagnosis. 17: 1081-4. PMID 9399359 DOI: 10.1002/(Sici)1097-0223(199711)17:11<1081::Aid-Pd198>3.0.Co;2-2 |
0.376 |
|
| 1998 |
Ehlin J, Van Arsdell W, Jabs EW. A novel Leu149Phe TWIST Mutation in Saethre-Chotzen Syndrome • 711 Pediatric Research. 43: 124-124. DOI: 10.1203/00006450-199804001-00732 |
0.408 |
|
| 1997 |
Howard TD, Guttmacher AE, McKinnon W, Sharma M, McKusick VA, Jabs EW. Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus. American Journal of Human Genetics. 61: 1405-12. PMID 9399901 DOI: 10.1086/301643 |
0.499 |
|
| 1997 |
Boultwood J, Fidler C, Soularue P, Strickson AJ, Kostrzewa M, Jaju RJ, Cotter FE, Fairweather N, Monaco AP, Müller U, Lovett M, Jabs EW, Auffray C, Wainscoat JS. Novel genes mapping to the critical region of the 5q- syndrome. Genomics. 45: 88-96. PMID 9339364 DOI: 10.1006/Geno.1997.4899 |
0.421 |
|
| 1997 |
Paznekas WA, Zhang N, Gridley T, Jabs EW. Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18 Biochemical and Biophysical Research Communications. 238: 1-6. PMID 9299440 DOI: 10.1006/Bbrc.1997.7229 |
0.441 |
|
| 1997 |
Wise CA, Chiang LC, Paznekas WA, Sharma M, Musy MM, Ashley JA, Lovett M, Jabs EW. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. Proceedings of the National Academy of Sciences of the United States of America. 94: 3110-5. PMID 9096354 DOI: 10.1073/Pnas.94.7.3110 |
0.437 |
|
| 1997 |
Oldridge M, Lunt PW, Zackai EH, McDonald-McGinn DM, Muenke M, Moloney DM, Twigg SR, Heath JK, Howard TD, Hoganson G, Gagnon DM, Jabs EW, Wilkie AO. Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. Human Molecular Genetics. 6: 137-43. PMID 9002682 DOI: 10.1093/Hmg/6.1.137 |
0.536 |
|
| 1997 |
Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, Ortiz de Luna RI, Garcia Delgado C, Gonzalez-Ramos M, Kline AD, Jabs EW. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nature Genetics. 15: 36-41. PMID 8988166 DOI: 10.1038/ng0197-36 |
0.44 |
|
| 1996 |
Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, Carey JC, Hall BD, Stevenson R, Orlow S, Cohen MM, Jabs EW. Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. Nature Genetics. 13: 492-4. PMID 8696350 DOI: 10.1038/Ng0896-492 |
0.512 |
|
| 1996 |
Lewanda AF, Morsey S, Reid CS, Jabs EW. Two craniosynostotic patients with 11q deletions, and review of 48 cases. American Journal of Medical Genetics. 59: 193-8. PMID 8588585 DOI: 10.1002/Ajmg.1320590215 |
0.313 |
|
| 1996 |
Park WJ, Meyers GA, Li X, Theda C, Day D, Orlow SJ, Jones MC, Jabs EW. Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. Human Molecular Genetics. 4: 1229-33. PMID 8528214 DOI: 10.1093/Hmg/4.7.1229 |
0.541 |
|
| 1995 |
Carow CE, Kim E, Hawkins AL, Webb HD, Griffin CA, Jabs EW, Civin CI, Small D. Localization of the human stem cell tyrosine kinase-1 gene (FLT3) to 13q12→q13 Cytogenetic and Genome Research. 70: 255-257. PMID 7789184 DOI: 10.1159/000134046 |
0.351 |
|
| 1995 |
Li X, Park WJ, Pyeritz RE, Jabs EW. Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome. Nature Genetics. 9: 232-3. PMID 7773284 DOI: 10.1038/Ng0395-232 |
0.502 |
|
| 1995 |
Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans Nature Genetics. 11: 462-464. PMID 7493034 DOI: 10.1038/Ng1295-462 |
0.522 |
|
| 1995 |
Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao J, Charnas LR, Jackson CE, Jaye M. Erratum: Corrigendum: Jackson–Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2 Nature Genetics. 9: 451-451. DOI: 10.1038/Ng0495-451C |
0.448 |
|
| 1994 |
Reid CS, McMorrow LE, McDonald-McGinn DM, Grace KJ, Ramos FJ, Zackai EH, Cohen MM, Jabs EW. Saethre-Chotzen syndrome with familial translocation at chromosome 7p22. American Journal of Medical Genetics. 47: 637-9. PMID 8266989 DOI: 10.1002/Ajmg.1320470511 |
0.378 |
|
| 1994 |
Lewanda AF, Cohen MM, Hood J, Morsey S, Walters M, Kennedy JL, Jabs EW. Cytogenetic survey of Apert syndrome. Reevaluation of a translocation (2;9)(p11.2;q34.2) in a patient suggests the breakpoints are not related to the disorder. American Journal of Diseases of Children (1960). 147: 1306-8. PMID 8249950 DOI: 10.1001/Archpedi.1993.02160360048016 |
0.388 |
|
| 1994 |
Li X, Wise CA, Le Paslier D, Hawkins AL, Griffin CA, Pittler SJ, Lovett M, Jabs EW. A YAC contig of approximately 3 Mb from human chromosome 5q31-->q33. Genomics. 19: 470-7. PMID 8188289 DOI: 10.1006/Geno.1994.1096 |
0.373 |
|
| 1994 |
Wechsler DS, Hawkins AL, Li X, Jabs EW, Griffin CA, Dang CV. Localization of the human Mxi1 transcription factor gene (MXI1) to chromosome 10q24-q25. Genomics. 21: 669-72. PMID 7959753 DOI: 10.1006/Geno.1994.1336 |
0.311 |
|
| 1994 |
Yamaoka LH, Westbrook CA, Speer MC, Gilchrist JM, Jabs EW, Schweins EG, Stajich JM, Gaskell PC, Roses AD, Pericak-Vance MA. Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9. Neuromuscular Disorders : Nmd. 4: 471-5. PMID 7881291 DOI: 10.1016/0960-8966(94)90086-8 |
0.315 |
|
| 1994 |
Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao JI, Charnas LR, Jackson CE, Jaye M. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nature Genetics. 8: 275-9. PMID 7874170 DOI: 10.1038/Ng1194-275 |
0.506 |
|
| 1994 |
Lewanda AF, Jabs EW. Genetics of craniofacial disorders. Current Opinion in Pediatrics. 6: 690-697. PMID 7849816 DOI: 10.1097/00008480-199412000-00014 |
0.355 |
|
| 1994 |
Craig RW, Jabs EW, Zhou P, Kozopas KM, Hawkins AL, Rochelle JM, Seldin MF, Griffins CA. Human and Mouse Chromosomal Mapping of the Myeloid Cell Leukemia-1 Gene: MCL1 Maps to Human Chromosome 1q21, a Region That Is Frequently Altered in Preneoplastic and Neoplastic Disease Genomics. 23: 457-463. PMID 7835896 DOI: 10.1006/Geno.1994.1523 |
0.335 |
|
| 1994 |
Narayanan V, Ripepi B, Jabs EW, Hawkins A, Griffin C, Tennekoon G. Partial structure and mapping of the human myelin P2 protein gene. Journal of Neurochemistry. 63: 2010-3. PMID 7525873 DOI: 10.1046/J.1471-4159.1994.63062010.X |
0.331 |
|
| 1993 |
Gregor P, Reeves RH, Jabs EW, Yang X, Dackowski W, Rochelle JM, Brown RH, Haines JL, O'Hara BF, Uhl GR. Chromosomal localization of glutamate receptor genes: relationship to familial amyotrophic lateral sclerosis and other neurological disorders of mice and humans. Proceedings of the National Academy of Sciences of the United States of America. 90: 3053-7. PMID 8464923 DOI: 10.1073/Pnas.90.7.3053 |
0.356 |
|
| 1993 |
Chang-Yeh A, Jabs EW, Li X, Dracopoli NC, Huang RC. The IPP gene is assigned to human chromosome 1p32-1p22. Genomics. 15: 239-41. PMID 8432546 DOI: 10.1006/Geno.1993.1048 |
0.356 |
|
| 1993 |
Arn PH, Mankinen C, Jabs EW. Mild mandibulofacial dysostosis in a child with a deletion of 3p. American Journal of Medical Genetics. 46: 534-6. PMID 8322816 DOI: 10.1002/Ajmg.1320460515 |
0.354 |
|
| 1993 |
Ding C, Li X, Griffin CA, Jabs EW, Hawkins AL, Levine MA. The Gene for Human Phosducin (PDC), a Soluble Protein That Binds G-Protein βγ Dimers, Maps to 1q25-q31.1 Genomics. 18: 457-459. PMID 8288259 DOI: 10.1006/Geno.1993.1501 |
0.31 |
|
| 1993 |
Jabs EW, Li X, Lovett M, Yamaoka LH, Taylor E, Speer MC, Coss C, Cadle R, Hall B, Brown K. Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region. Genomics. 18: 7-13. PMID 8276417 DOI: 10.1006/Geno.1993.1420 |
0.356 |
|
| 1993 |
Jabs EW, Müller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML, Mulliken JB, Snead ML, Maxson R. A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis Cell. 75: 443-450. PMID 8106171 DOI: 10.1016/0092-8674(93)90379-5 |
0.518 |
|
| 1993 |
Surratt CK, Persico AM, Yang XD, Edgar SR, Bird GS, Hawkins AL, Griffin CA, Li X, Jabs EW, Uhl GR. A human synaptic vesicle monoamine transporter cDNA predicts posttranslational modifications, reveals chromosome 10 gene localization and identifies TaqI RFLPs. Febs Letters. 318: 325-30. PMID 8095030 DOI: 10.1016/0014-5793(93)80539-7 |
0.321 |
|
| 1993 |
Percy ME, Dearie TG, Jabs EW, Bauer SJ, Chodakowski B, Somerville MJ, Lennox A, McLachlan DR, Baldini A, Miller DA. Family with 22-derived marker chromosome and late-onset dementia of the Alzheimer type: II. Further cytogenetic analysis of the marker and characterization of the high-level repeat sequences using fluorescence in situ hybridization. American Journal of Medical Genetics. 47: 14-9. PMID 7690182 DOI: 10.1002/Ajmg.1320470104 |
0.306 |
|
| 1993 |
Li X, Jaye M, Crumley G, Jabs EW. Dinucleotide repeat polymorphism in the human fibroblast growth factor acidic (FGFA) gene on chromosome 5. Human Molecular Genetics. 1: 216. PMID 1284625 DOI: 10.1093/Hmg/1.3.216-A |
0.336 |
|
| 1992 |
Holden KR, Jabs EW, Sponseller PD. Roberts/pseudothalidomide syndrome and normal intelligence: approaches to diagnosis and management. Developmental Medicine and Child Neurology. 34: 534-9. PMID 1612213 DOI: 10.1111/J.1469-8749.1992.Tb11475.X |
0.387 |
|
| 1992 |
Cooper LF, Coss CA, Jabs EW. Reevaluation of the origin of a marker chromosome in a patient with 47,XX,r(13)(p11q34), + mar by molecular cytogenetics. Clinical Genetics. 42: 323-5. PMID 1493646 DOI: 10.1111/J.1399-0004.1992.Tb03266.X |
0.311 |
|
| 1992 |
Vandenbergh DJ, Persico AM, Hawkins AL, Griffin CA, Li X, Jabs EW, Uhl GR. Human dopamine transporter gene (DAT1) maps to chromosome 5p15.3 and displays a VNTR. Genomics. 14: 1104-6. PMID 1478653 DOI: 10.1016/S0888-7543(05)80138-7 |
0.338 |
|
| 1992 |
Huebner K, Cannizzaro LA, Jabs EW, Kivirikko S, Manzone H, Pihlajaniemi T, Myers JC. Chromosomal assignment of a gene encoding a new collagen type (COL15A1) to 9q21 --> q22. Genomics. 14: 220-4. PMID 1427836 DOI: 10.1016/S0888-7543(05)80209-5 |
0.363 |
|
| 1992 |
Xiao L, Paul C, Mank AR, Griffin C, Jabs EW, Hawkins AL, Casero RA. Structure of the human spermidine/spermine N1-acetyltransferase gene. Kxon/intron gene organization and localization to Xp22.1 Biochemical and Biophysical Research Communications. 187: 1493-1502. PMID 1417826 DOI: 10.1016/0006-291X(92)90471-V |
0.316 |
|
| 1992 |
Stetten G, Blakemore KJ, Courter AM, Coss CA, Jabs EW. Prenatal identification of small mosaic markers of different chromosomal origins. Prenatal Diagnosis. 12: 83-91. PMID 1372733 DOI: 10.1002/Pd.1970120203 |
0.301 |
|
| 1992 |
Fechner PY, Smith KD, Jabs EW, Migeon CJ, Berkovitz GD. Partial gonadal dysgenesis in a patient with a marker Y chromosome. American Journal of Medical Genetics. 42: 807-12. PMID 1313209 DOI: 10.1002/Ajmg.1320420612 |
0.364 |
|
| 1991 |
Jabs EW, Tuck-Muller CM, Cusano R, Rattner JB. Studies of mitotic and centromeric abnormalities in Roberts syndrome: implications for a defect in the mitotic mechanism. Chromosoma. 100: 251-61. PMID 2055135 DOI: 10.1007/Bf00344159 |
0.404 |
|
| 1991 |
Blanché H, Zoghbi HY, Jabs EW, de Gouyon B, Zunec R, Dausset J, Cann HM. A centromere-based genetic map of the short arm of human chromosome 6. Genomics. 9: 420-8. PMID 2032717 DOI: 10.1016/0888-7543(91)90407-6 |
0.301 |
|
| 1991 |
Jabs EW, Coss CA, Hayflick SJ, Whitmore TE, Pauli RM, Kirkpatrick SJ, Meyers DA, Goldberg R, Day DW, Rosenbaum KN. Chromosomal deletion 4p15.32----p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of anonymous DNA sequences to this region. Genomics. 11: 188-92. PMID 1684950 DOI: 10.1016/0888-7543(91)90117-W |
0.399 |
|
| 1991 |
Jabs EW, Warren AC, Taylor EW, Colyer CR, Meyers DA, Antonarakis SE. Alphoid DNA polymorphisms for chromosome 21 can be distinguished from those of chromosome 13 using probes homologous to both Genomics. 9: 141-146. PMID 1672286 DOI: 10.1016/0888-7543(91)90231-3 |
0.307 |
|
| 1988 |
Youssoufian H, Chance P, Tuck-Muller CM, Jabs EW. Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene. Human Genetics. 78: 267-70. PMID 3162227 DOI: 10.1007/Bf00291674 |
0.368 |
|
| 1987 |
Bartholomew DW, Jabs EW, Levin LS, Ribovich R. Single maxillary central incisor and coloboma in hypomelanosis of Ito. Clinical Genetics. 31: 370-3. PMID 3621638 DOI: 10.1111/J.1399-0004.1987.Tb02826.X |
0.309 |
|
| 1984 |
Jabs EW, Wolf SF, Migeon BR. Characterization of a cloned DNA sequence that is present at centromeres of all human autosomes and the X chromosome and shows polymorphic variation. Proceedings of the National Academy of Sciences of the United States of America. 81: 4884-8. PMID 6589633 DOI: 10.1073/Pnas.81.15.4884 |
0.321 |
|
| 1983 |
Mules EH, Stamberg J, Jabs EW, Leonard CO. Two different structural abnormalities of chromosome 13 in offspring of chromosomally normal parents with two fragile sites. Clinical Genetics. 23: 380-5. PMID 6851231 DOI: 10.1111/J.1399-0004.1983.Tb00450.X |
0.335 |
|
| 1982 |
Stamberg J, Jabs EW, Elias E. Terminal deletion(4)(q33) in a male infant. Clinical Genetics. 21: 125-9. PMID 7083613 DOI: 10.1111/J.1399-0004.1982.Tb00748.X |
0.359 |
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