Frank J. Probst, Ph.D.
Affiliations: | University of Michigan, Ann Arbor, Ann Arbor, MI |
Area:
Pituitary developementGoogle:
"Frank Probst"Mean distance: 18.07 (cluster 32)
Parents
Sign in to add mentor| Sally Camper | grad student | 2001 | University of Michigan | |
| (Identification and characterization of Myo15, a new deafness gene.) | ||||
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Publications
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| Zhang LX, Lemire G, Gonzaga-Jauregui C, et al. (2020) Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genetics in Medicine : Official Journal of the American College of Medical Genetics |
| Reijnders MR, Zachariadis V, Latour B, et al. (2016) De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. American Journal of Human Genetics |
| Probst FJ, James RA, Burrage LC, et al. (2015) De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations. Orphanet Journal of Rare Diseases. 10: 75 |
| Dharmadhikari AV, Gambin T, Szafranski P, et al. (2014) Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite. Bmc Medical Genetics. 15: 128 |
| Raznahan A, Lue Y, Probst F, et al. (2014) Triangulating the sexually dimorphic brain through high-resolution neuroimaging of murine sex chromosome aneuploidies. Brain Structure & Function |
| Marttila M, Lehtokari VL, Marston S, et al. (2014) Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. Human Mutation. 35: 779-90 |
| Wangler MF, Gonzaga-Jauregui C, Gambin T, et al. (2014) Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. Plos Genetics. 10: e1004258 |
| Wiszniewska J, Bi W, Shaw C, et al. (2014) Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. European Journal of Human Genetics : Ejhg. 22: 79-87 |
| Marttila M, Lehtokari VL, Marston SB, et al. (2014) G.P.271 Neuromuscular Disorders. 24: 898 |
| Probst FJ, Corrigan RR, Del Gaudio D, et al. (2013) A point mutation in the gene for asparagine-linked glycosylation 10B (Alg10b) causes nonsyndromic hearing impairment in mice (Mus musculus). Plos One. 8: e80408 |