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Fibroblast-growth-factor receptor mutations in human skeletal disorders.
Muenke M, Schell U. Muenke M, et al. Trends Genet. 1995 Aug;11(8):308-13. doi: 10.1016/s0168-9525(00)89088-5. Trends Genet. 1995. PMID: 8585128 Review.
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.
Cornejo-Roldan LR, Roessler E, Muenke M. Cornejo-Roldan LR, et al. Hum Genet. 1999 May;104(5):425-31. doi: 10.1007/s004390050979. Hum Genet. 1999. PMID: 10394936
Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay.
Orenstein N, Weiss K, Oprescu SN, Shapira R, Kidron D, Vanagaite-Basel L, Antonellis A, Muenke M. Orenstein N, et al. Clin Genet. 2017 Jun;91(6):913-917. doi: 10.1111/cge.12930. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 27891590 Free PMC article.
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.
Bamford RN, Roessler E, Burdine RD, Saplako─člu U, dela Cruz J, Splitt M, Goodship JA, Towbin J, Bowers P, Ferrero GB, Marino B, Schier AF, Shen MM, Muenke M, Casey B. Bamford RN, et al. Nat Genet. 2000 Nov;26(3):365-9. doi: 10.1038/81695. Nat Genet. 2000. PMID: 11062482
Clinical and molecular analysis in Joubert syndrome.
Pellegrino JE, Lensch MW, Muenke M, Chance PF. Pellegrino JE, et al. Am J Med Genet. 1997 Oct 3;72(1):59-62. doi: 10.1002/(sici)1096-8628(19971003)72:1<59::aid-ajmg12>;2-t. Am J Med Genet. 1997. PMID: 9295076
Craniosynostosis, Philadelphia type: a new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes.
Robin NH, Segel B, Carpenter G, Muenke M. Robin NH, et al. Am J Med Genet. 1996 Mar 15;62(2):184-91. doi: 10.1002/(SICI)1096-8628(19960315)62:2<184::AID-AJMG13>3.0.CO;2-K. Am J Med Genet. 1996. PMID: 8882401
Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3.
Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Glat PM, Cassileth LB, Mayro R, Zackai EH, Muenke M. Gripp KW, et al. J Pediatr. 1998 Apr;132(4):714-6. doi: 10.1016/s0022-3476(98)70366-x. J Pediatr. 1998. PMID: 9580776
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