| Year |
Citation |
Score |
| 2020 |
Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, ... ... Probst FJ, et al. 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. PMID 32424177 DOI: 10.1038/S41436-020-0811-8 |
0.314 |
|
| 2016 |
Reijnders MR, Zachariadis V, Latour B, Jolly L, Mancini GM, Pfundt R, Wu KM, van Ravenswaaij-Arts CM, Veenstra-Knol HE, Anderlid BM, Wood SA, Cheung SW, Barnicoat A, Probst F, Magoulas P, et al. 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. PMID 26833328 DOI: 10.1016/J.Ajhg.2015.12.015 |
0.409 |
|
| 2015 |
Probst FJ, James RA, Burrage LC, Rosenfeld JA, Bohan TP, Ward Melver CH, Magoulas P, Austin E, Franklin AI, Azamian M, Xia F, Patel A, Bi W, Bacino C, Belmont JW, et al. De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations. Orphanet Journal of Rare Diseases. 10: 75. PMID 26070612 DOI: 10.1186/S13023-015-0291-0 |
0.389 |
|
| 2014 |
Dharmadhikari AV, Gambin T, Szafranski P, Cao W, Probst FJ, Jin W, Fang P, Gogolewski K, Gambin A, George-Abraham JK, Golla S, Boidein F, Duban-Bedu B, Delobel B, Andrieux J, et al. Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite. Bmc Medical Genetics. 15: 128. PMID 25472632 DOI: 10.1186/S12881-014-0128-Z |
0.426 |
|
| 2014 |
Raznahan A, Lue Y, Probst F, Greenstein D, Giedd J, Wang C, Lerch J, Swerdloff R. Triangulating the sexually dimorphic brain through high-resolution neuroimaging of murine sex chromosome aneuploidies. Brain Structure & Function. PMID 25146308 DOI: 10.1007/S00429-014-0875-9 |
0.356 |
|
| 2014 |
Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, ... ... Probst FJ, et al. Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. Human Mutation. 35: 779-90. PMID 24692096 DOI: 10.1002/Humu.22554 |
0.385 |
|
| 2014 |
Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, Probst FJ, Xia F, Yang Y, Werlin S, Eglite I, Kornejeva L, Bacino CA, Baldridge D, Neul J, et al. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. Plos Genetics. 10: e1004258. PMID 24676022 DOI: 10.1371/Journal.Pgen.1004258 |
0.404 |
|
| 2014 |
Wiszniewska J, Bi W, Shaw C, Stankiewicz P, Kang SH, Pursley AN, Lalani S, Hixson P, Gambin T, Tsai CH, Bock HG, Descartes M, Probst FJ, Scaglia F, Beaudet AL, et al. Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. European Journal of Human Genetics : Ejhg. 22: 79-87. PMID 23695279 DOI: 10.1038/Ejhg.2013.77 |
0.302 |
|
| 2014 |
Marttila M, Lehtokari VL, Marston SB, Nyman TA, Barnerias C, Beggs AH, Bertin E, Ceyhan-Birsoy Ö, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, ... ... Probst FJ, et al. G.P.271 Neuromuscular Disorders. 24: 898. DOI: 10.1016/J.Nmd.2014.06.347 |
0.387 |
|
| 2013 |
Probst FJ, Corrigan RR, Del Gaudio D, Salinger AP, Lorenzo I, Gao SS, Chiu I, Xia A, Oghalai JS, Justice MJ. A point mutation in the gene for asparagine-linked glycosylation 10B (Alg10b) causes nonsyndromic hearing impairment in mice (Mus musculus). Plos One. 8: e80408. PMID 24303013 DOI: 10.1371/Journal.Pone.0080408 |
0.521 |
|
| 2013 |
Peddibhotla S, Khalifa M, Probst FJ, Stein J, Harris LL, Kearney DL, Vance GH, Bull MJ, Grange DK, Scharer GH, Kang SH, Stankiewicz P, Bacino CA, Cheung SW, Patel A. Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis. American Journal of Medical Genetics. Part A. 161: 2953-63. PMID 24123848 DOI: 10.1002/Ajmg.A.35886 |
0.425 |
|
| 2013 |
Raznahan A, Probst F, Palmert MR, Giedd JN, Lerch JP. High resolution whole brain imaging of anatomical variation in XO, XX, and XY mice. Neuroimage. 83: 962-8. PMID 23891883 DOI: 10.1016/J.Neuroimage.2013.07.052 |
0.358 |
|
| 2012 |
Bi W, Probst FJ, Wiszniewska J, Plunkett K, Roney EK, Carter BS, Williams MD, Stankiewicz P, Patel A, Stevens CA, Lupski JR, Cheung SW. Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events. Journal of Medical Genetics. 49: 681-8. PMID 23042811 DOI: 10.1136/Jmedgenet-2012-101002 |
0.432 |
|
| 2012 |
Nagamani SC, Erez A, Probst FJ, Bader P, Evans P, Baker LA, Fang P, Bertin T, Hixson P, Stankiewicz P, Nelson D, Patel A, Cheung SW. Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function. Neurogenetics. 13: 333-9. PMID 22890812 DOI: 10.1007/S10048-012-0340-Y |
0.449 |
|
| 2012 |
Han HJ, Allen CC, Buchovecky CM, Yetman MJ, Born HA, Marin MA, Rodgers SP, Song BJ, Lu HC, Justice MJ, Probst FJ, Jankowsky JL. Strain background influences neurotoxicity and behavioral abnormalities in mice expressing the tetracycline transactivator. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 32: 10574-86. PMID 22855807 DOI: 10.1523/Jneurosci.0893-12.2012 |
0.37 |
|
| 2011 |
Fairfield H, Gilbert GJ, Barter M, Corrigan RR, Curtain M, Ding Y, D'Ascenzo M, Gerhardt DJ, He C, Huang W, Richmond T, Rowe L, Probst FJ, Bergstrom DE, Murray SA, et al. Mutation discovery in mice by whole exome sequencing. Genome Biology. 12: R86. PMID 21917142 DOI: 10.1186/Gb-2011-12-9-R86 |
0.382 |
|
| 2011 |
Breman AM, Probst FJ, Blazo MA, Schaaf CP, Roney EK, Craigen WJ, Bacino CA, Cheung SW. Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q. American Journal of Medical Genetics. Part A. 155: 1465-8. PMID 21567909 DOI: 10.1002/Ajmg.A.33935 |
0.398 |
|
| 2010 |
Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, ... ... Probst FJ, et al. Detection of clinically relevant exonic copy-number changes by array CGH. Human Mutation. 31: 1326-42. PMID 20848651 DOI: 10.1002/Humu.21360 |
0.327 |
|
| 2010 |
Probst FJ, Justice MJ. Mouse mutagenesis with the chemical supermutagen ENU. Methods in Enzymology. 477: 297-312. PMID 20699147 DOI: 10.1016/S0076-6879(10)77015-4 |
0.449 |
|
| 2010 |
Szafranski P, Schaaf CP, Person RE, Gibson IB, Xia Z, Mahadevan S, Wiszniewska J, Bacino CA, Lalani S, Potocki L, Kang SH, Patel A, Cheung SW, Probst FJ, Graham BH, et al. Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Human Mutation. 31: 840-50. PMID 20506139 DOI: 10.1002/Humu.21284 |
0.404 |
|
| 2010 |
Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, et al. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. Journal of Medical Genetics. 47: 332-41. PMID 19914906 DOI: 10.1136/Jmg.2009.073015 |
0.388 |
|
| 2009 |
Boles MK, Wilkinson BM, Wilming LG, Liu B, Probst FJ, Harrow J, Grafham D, Hentges KE, Woodward LP, Maxwell A, Mitchell K, Risley MD, Johnson R, Hirschi K, Lupski JR, et al. Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin. Plos Genetics. 5: e1000759. PMID 20011118 DOI: 10.1371/Journal.Pgen.1000759 |
0.471 |
|
| 2009 |
Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, Probst FJ, Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, et al. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. Journal of Medical Genetics. 46: 825-33. PMID 19584063 DOI: 10.1136/Jmg.2009.067637 |
0.478 |
|
| 2008 |
Probst FJ, Cooper ML, Cheung SW, Justice MJ. Genotype, phenotype, and karyotype correlation in the XO mouse model of Turner Syndrome. The Journal of Heredity. 99: 512-7. PMID 18499648 DOI: 10.1093/Jhered/Esn027 |
0.457 |
|
| 2007 |
Karolyi IJ, Dootz GA, Halsey K, Beyer L, Probst FJ, Johnson KR, Parlow AF, Raphael Y, Dolan DF, Camper SA. Dietary thyroid hormone replacement ameliorates hearing deficits in hypothyroid mice. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 18: 596-608. PMID 17899304 DOI: 10.1007/S00335-007-9038-0 |
0.58 |
|
| 2007 |
Probst FJ, Roeder ER, Enciso VB, Ou Z, Cooper ML, Eng P, Li J, Gu Y, Stratton RF, Chinault AC, Shaw CA, Sutton VR, Cheung SW, Nelson DL. Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. American Journal of Medical Genetics. Part A. 143: 1358-65. PMID 17506108 DOI: 10.1002/Ajmg.A.31781 |
0.457 |
|
| 2006 |
Kanzaki S, Beyer L, Karolyi IJ, Dolan DF, Fang Q, Probst FJ, Camper SA, Raphael Y. Transgene correction maintains normal cochlear structure and function in 6-month-old Myo15a mutant mice. Hearing Research. 214: 37-44. PMID 16580798 DOI: 10.1016/J.Heares.2006.01.017 |
0.614 |
|
| 2003 |
Karolyi IJ, Probst FJ, Beyer L, Odeh H, Dootz G, Cha KB, Martin DM, Avraham KB, Kohrman D, Dolan DF, Raphael Y, Camper SA. Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia. Human Molecular Genetics. 12: 2797-805. PMID 12966030 DOI: 10.1093/Hmg/Ddg308 |
0.724 |
|
| 2002 |
Martin DM, Probst FJ, Fox SE, Schimmenti LA, Semina EV, Hefner MA, Belmont JW, Camper SA. Exclusion of PITX2 mutations as a major cause of CHARGE association. American Journal of Medical Genetics. 111: 27-30. PMID 12124729 DOI: 10.1002/Ajmg.10473 |
0.567 |
|
| 2000 |
Beyer LA, Odeh H, Probst FJ, Lambert EH, Dolan DF, Camper SA, Kohrman DC, Raphael Y. Hair cells in the inner ear of the pirouette and shaker 2 mutant mice. Journal of Neurocytology. 29: 227-40. PMID 11276175 DOI: 10.1023/A:1026515619443 |
0.55 |
|
| 2000 |
Martin DM, Probst FJ, Camper SA, Petty EM. Characterisation and genetic mapping of a new X linked deafness syndrome. Journal of Medical Genetics. 37: 836-41. PMID 11073537 DOI: 10.1136/Jmg.37.11.836 |
0.604 |
|
| 2000 |
Anderson DW, Probst FJ, Belyantseva IA, Fridell RA, Beyer L, Martin DM, Wu D, Kachar B, Friedman TB, Raphael Y, Camper SA. The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells. Human Molecular Genetics. 9: 1729-38. PMID 10915760 DOI: 10.1093/Hmg/9.12.1729 |
0.622 |
|
| 1999 |
Liang Y, Wang A, Belyantseva IA, Anderson DW, Probst FJ, Barber TD, Miller W, Touchman JW, Jin L, Sullivan SL, Sellers JR, Camper SA, Lloyd RV, Kachar B, Friedman TB, et al. Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2. Genomics. 61: 243-58. PMID 10552926 DOI: 10.1006/Geno.1999.5976 |
0.649 |
|
| 1999 |
Probst FJ, Camper SA. The role of mouse mutants in the identification of human hereditary hearing loss genes. Hearing Research. 130: 1-6. PMID 10320095 DOI: 10.1016/S0378-5955(98)00231-7 |
0.63 |
|
| 1999 |
Probst FJ, Chen KS, Zhao Q, Wang A, Friedman TB, Lupski JR, Camper SA. A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2). Genomics. 55: 348-52. PMID 10049592 DOI: 10.1006/Geno.1998.5669 |
0.635 |
|
| 1998 |
Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, Morton CC, Morell RJ, Noben-Trauth K, Camper SA, Friedman TB. Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Science (New York, N.Y.). 280: 1447-51. PMID 9603736 DOI: 10.1126/Science.280.5368.1447 |
0.649 |
|
| 1998 |
Probst FJ, Fridell RA, Raphael Y, Saunders TL, Wang A, Liang Y, Morell RJ, Touchman JW, Lyons RH, Noben-Trauth K, Friedman TB, Camper SA. Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. Science (New York, N.Y.). 280: 1444-7. PMID 9603735 DOI: 10.1126/Science.280.5368.1444 |
0.637 |
|
| 1998 |
Liang Y, Wang A, Probst FJ, Arhya IN, Barber TD, Chen KS, Deshmukh D, Dolan DF, Hinnant JT, Carter LE, Jain PK, Lalwani AK, Li XC, Lupski JR, Moeljopawiro S, et al. Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2. American Journal of Human Genetics. 62: 904-15. PMID 9529344 DOI: 10.1086/301786 |
0.65 |
|
| 1997 |
Watkins-Chow DE, Douglas KR, Buckwalter MS, Probst FJ, Camper SA. Construction of a 3-Mb contig and partial transcript map of the central region of mouse chromosome 11. Genomics. 45: 147-57. PMID 9339371 DOI: 10.1006/Geno.1997.4931 |
0.678 |
|
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