Janet M. Legare, MD

Faye E, Modaff P, Pauli R, Legare J.(2018) Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant. Molecular Syndromology, 10(3):154-160. doi: 10.1159/000495778.

Legare JM, Modaff P, Strom SP, Pauli RM, Bartlett HL. (2018). Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care. American Journal of Medical Genetics Part A. 176(11):2237-2242. doi: 10.1002/ajmg.a.40377.

Legare JM. (2018). Achondroplasia. London Medical Database. In Press

Smid CJ, Modaff P, Alade A, Legare JM, Pauli RM. (2018). Acanthosis nigricans in achondroplasia. American Journal of Medical Genetics Part A. 31:e40506. doi: 10.1002/ajmg.a.40506.

Pauli RM, Legare JM. (2018). Achondroplasia. Updated 2018 May 10. In GeneReviews, edited by Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A.

Legare JM, Seaborg K, Laffin J, Giampietro PF. (2017). Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years.  American Journal of Medical Genetics Part A. 173(10):2808-2813. doi: 10.1002/ajmg.a.38395.

George A, Zand DJ, Hufnagel RB, Sharma R, Sergeev YV, Legare JM, Rice GM, Scott Schwoerer JA, Rius M, Tetri L, Gamm DM, Bharti K, Brooks BP. (2016) Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. American Journal of Human Genetics. 1;99(6):1388-1394. doi: 10.1016/j.ajhg.2016.11.004.

Legare JM, Modaff P, Iskandar BJ, Pauli RM. (2016). Syringomyelia in hereditary multiple exostosis.  American Journal of Medical Genetics Part A. 170(11):2956-2959. doi: 10.1002/ajmg.a.37854.