| Year |
Citation |
Score |
| 2018 |
Schenkel LC, Aref-Eshghi E, Skinner C, Ainsworth P, Lin H, Paré G, Rodenhiser DI, Schwartz C, Sadikovic B. Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in. Clinical Epigenetics. 10: 21. PMID 29456765 DOI: 10.1186/S13148-018-0453-8 |
0.317 |
|
| 2017 |
Schenkel LC, Kernohan KD, McBride A, Reina D, Hodge A, Ainsworth PJ, Rodenhiser DI, Pare G, Bérubé NG, Skinner C, Boycott KM, Schwartz C, Sadikovic B. Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome. Epigenetics & Chromatin. 10: 10. PMID 28293299 DOI: 10.1186/S13072-017-0118-4 |
0.326 |
|
| 2016 |
Schenkel LC, Schwartz C, Skinner C, Rodenhiser D, Ainsworth P, Pare G, Sadikovic B. Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array. The Journal of Molecular Diagnostics : Jmd. PMID 27585064 DOI: 10.1016/J.Jmoldx.2016.06.005 |
0.314 |
|
| 2013 |
Zhang Z, Norris J, Kalscheuer V, Wood T, Wang L, Schwartz C, Alexov E, Van Esch H. A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. Human Molecular Genetics. 22: 3789-97. PMID 23696453 DOI: 10.1093/Hmg/Ddt229 |
0.328 |
|
| 2013 |
Beaulieu CL, Huang L, Innes AM, Akimenko MA, Puffenberger EG, Schwartz C, Jerry P, Ober C, Hegele RA, McLeod DR, Schwartzentruber J, Majewski J, Bulman DE, Parboosingh JS, et al. Intellectual disability associated with a homozygous missense mutation in THOC6. Orphanet Journal of Rare Diseases. 8: 62. PMID 23621916 DOI: 10.1186/1750-1172-8-62 |
0.326 |
|
| 2011 |
Marom D, Albin A, Schwartz C, Har-Zahav A, Straussberg R, Bartel F, Birk E, Inbar D, Basel-Vanagaite L. X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome? American Journal of Medical Genetics. Part A. 155: 1959-63. PMID 21744492 DOI: 10.1002/Ajmg.A.34121 |
0.365 |
|
| 2011 |
Witham S, Takano K, Schwartz C, Alexov E. In Silico Investigation of a Missense Mutation in CLIC2 Associated with Intellectual Disability Biophysical Journal. 100. DOI: 10.1016/J.Bpj.2010.12.3518 |
0.329 |
|
| 2010 |
Kerzendorfer C, Whibley A, Carpenter G, Outwin E, Chiang SC, Turner G, Schwartz C, El-Khamisy S, Raymond FL, O'Driscoll M. Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks. Human Molecular Genetics. 19: 1324-34. PMID 20064923 DOI: 10.1093/Hmg/Ddq008 |
0.303 |
|
| 2008 |
Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, ... ... Schwartz C, et al. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. American Journal of Human Genetics. 82: 1003-10. PMID 18342287 DOI: 10.1016/J.Ajhg.2008.01.013 |
0.348 |
|
| 2007 |
Field M, Tarpey PS, Smith R, Edkins S, O'Meara S, Stevens C, Tofts C, Teague J, Butler A, Dicks E, Barthorpe S, Buck G, Cole J, Gray K, Halliday K, ... ... Schwartz C, et al. Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. American Journal of Human Genetics. 81: 367-74. PMID 17668385 DOI: 10.1086/520677 |
0.368 |
|
| 2007 |
Abidi F, Miano M, Murray J, Schwartz C. A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate. Clinical Genetics. 72: 19-22. PMID 17594395 DOI: 10.1111/J.1399-0004.2007.00817.X |
0.328 |
|
| 2004 |
Christophe-Hobertus C, Kooy F, Gecz J, Abramowicz MJ, Holinski-Feder E, Schwartz C, Christophe D. TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation Bmc Medical Genetics. 5: 22-22. PMID 15345028 DOI: 10.1186/1471-2350-5-22 |
0.338 |
|
| 2004 |
Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, ... Schwartz C, et al. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proceedings of the National Academy of Sciences of the United States of America. 101: 8090-5. PMID 15141091 DOI: 10.1073/Pnas.0308475101 |
0.333 |
|
| 2003 |
Salomons GS, van Dooren SJM, Verhoeven NM, Marsden D, Schwartz C, Cecil KM, DeGrauw TJ, Jakobs C. X-linked creatine transporter defect: An overview Journal of Inherited Metabolic Disease. 26: 309-318. PMID 12889669 DOI: 10.1023/A:1024405821638 |
0.314 |
|
| 2002 |
Lossi AM, Laugier-Anfossi F, Depetris D, Gecz J, Gedeon A, Kooy F, Schwartz C, Mattei MG, Croquette MF, Villard L. Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation. Journal of Medical Genetics. 39: 113-7. PMID 11836360 DOI: 10.1136/Jmg.39.2.113 |
0.364 |
|
| 2000 |
Lossi AM, Colleaux L, Chiaroni P, Fontes M, Villard L, Abidi F, Schwartz C, Briault S, Moraine C. Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families. American Journal of Medical Genetics. 94: 386-8. PMID 11050623 DOI: 10.1002/1096-8628(20001023)94:5<386::Aid-Ajmg8>3.0.Co;2-1 |
0.325 |
|
| 1999 |
Seroussi E, Kedra D, Pan HQ, Peyrard M, Schwartz C, Scambler P, Donnai D, Roe BA, Dumanski JP. Duplications on human chromosome 22 reveal a novel Ret Finger Protein-like gene family with sense and endogenous antisense transcripts. Genome Research. 9: 803-14. PMID 10508838 DOI: 10.1101/Gr.9.9.803 |
0.311 |
|
| 1999 |
Lubs H, Chiurazzi P, Arena J, Schwartz C, Tranebjaerg L, Neri G. XLMR genes: update 1998. American Journal of Medical Genetics. 83: 237-247. PMID 10208155 DOI: 10.1002/(Sici)1096-8628(19990402)83:4<237::Aid-Ajmg2>3.0.Co;2-8 |
0.35 |
|
| 1999 |
Holden JJ, Percy M, Allingham-Hawkins D, Brown WT, Chiurazzi P, Fisch G, Gane L, Gunter C, Hagerman R, Jenkins EC, Kooy RF, Lubs HA, Murray A, Neri G, Schwartz C, et al. Eighth International workshop on the fragile X syndrome and X-linked mental retardation, August 16-22, 1997. American Journal of Medical Genetics. 83: 221-36. PMID 10208154 DOI: 10.1002/(Sici)1096-8628(19990402)83:4<221::Aid-Ajmg1>3.0.Co;2-K |
0.303 |
|
| 1999 |
Villard L, Bonino MC, Abidi F, Ragusa A, Belougne J, Lossi AM, Seaver L, Bonnefont JP, Romano C, Fichera M, Lacombe D, Hanauer A, Philip N, Schwartz C, Fontés M. Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome. Journal of Medical Genetics. 36: 183-6. PMID 10204841 DOI: 10.1136/Jmg.36.3.183 |
0.333 |
|
| 1999 |
Plenge RM, Tranebjaerg L, Jensen PKA, Schwartz C, Willard HF. Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation American Journal of Human Genetics. 64: 759-767. PMID 10053010 DOI: 10.1086/302286 |
0.353 |
|
| 1999 |
Hansen GM, Tackles D, Schwartz C, Justice MJ. A mouse chromosome 19 genetic map including the Lvis1 viral insertion site Genomics. 56: 228-231. PMID 10051411 DOI: 10.1006/Geno.1998.5708 |
0.305 |
|
| 1998 |
Gunter C, Paradee W, Crawford DC, Meadows KA, Newman J, Kunst CB, Nelson DL, Schwartz C, Murray A, Macpherson JN, Sherman SL, Warren ST. Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1. Human Molecular Genetics. 7: 1935-46. PMID 9811938 DOI: 10.1093/Hmg/7.12.1935 |
0.322 |
|
| 1997 |
Villard L, Lossi AM, Cardoso C, Proud V, Chiaroni P, Colleaux L, Schwartz C, Fontés M. Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase. Genomics. 43: 149-55. PMID 9244431 DOI: 10.1006/Geno.1997.4793 |
0.343 |
|
| 1996 |
Jin H, May M, Tranebjaerg L, Kendall E, Fontán G, Jackson J, Subramony SH, Arena F, Lubs H, Smith S, Stevenson R, Schwartz C, Vetrie D. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. Nature Genetics. 14: 177-80. PMID 8841189 DOI: 10.1038/Ng1096-177 |
0.366 |
|
| 1996 |
Lubs HA, Chiurazzi P, Arena JF, Schwartz C, Tranebjaerg L, Neri G. XLMR genes: update 1996. American Journal of Medical Genetics. 64: 147-157. PMID 8826465 DOI: 10.1002/(Sici)1096-8628(19960712)64:1<147::Aid-Ajmg25>3.0.Co;2-M |
0.326 |
|
| 1996 |
Arena JF, Schwartz C, Ouzts L, Stevenson R, Miller ME, Garza J, Nance M, Lubs H. X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: linkage to Xp21.3-p22.12. American Journal of Medical Genetics. 64: 50-58. PMID 8826448 DOI: 10.1002/(Sici)1096-8628(19960712)64:1<50::Aid-Ajmg7>3.0.Co;2-V |
0.305 |
|
| 1996 |
Tranebjaerg L, Lubs HA, Borghgraef M, Brown WT, Fisch G, Fryns J.- P, Hagerman R, Jacobs PA, Mandel JL, Mulley J, Oostra B, Schwartz C, Sherman S, Willard H, Willems P. Seventh International Workshop on the Fragile X and X-linked mental retardation American Journal of Medical Genetics. 64: 1-14. PMID 8826442 DOI: 10.1002/(Sici)1096-8628(19960712)64:1<1::Aid-Ajmg1>3.0.Co;2-Z |
0.304 |
|
| 1996 |
Colleaux L, May M, Belougne J, Lepaslier D, Schwartz C, Fontes M. Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands. Journal of Medical Genetics. 33: 353-357. PMID 8733041 DOI: 10.1136/Jmg.33.5.353 |
0.318 |
|
| 1994 |
Vits L, Camp GV, Coucke P, Fransen E, Boulle KD, Reyniers E, Korn B, Poustka A, Wilson G, Schrander-Stumpel C, Winter RM, Schwartz C, Willems PJ. MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. Nature Genetics. 7: 408-413. PMID 7920660 DOI: 10.1038/Ng0794-408 |
0.317 |
|
| 1992 |
Arena JF, Schwartz C, Stevenson R, Lawrence L, Carpenter A, Duara R, Ledbetter D, Huang T, Lehner T, Ott J, Lubs HA. Spastic paraplegia with iron deposits in the basal ganglia: A new X-linked mental retardation syndrome American Journal of Medical Genetics. 43: 479-490. PMID 1605230 DOI: 10.1002/Ajmg.1320430172 |
0.331 |
|
| 1992 |
Richards RI, Holman K, Friend K, Kremer E, Hillen D, Staples A, Brown WT, Goonewardena P, Tarleton J, Schwartz C, Sutherland GR. Evidence of founder chromosomes in fragile X syndrome Nature Genetics. 1: 257-260. PMID 1302021 DOI: 10.1038/Ng0792-257 |
0.354 |
|
| 1991 |
Nakahori Y, Knight SJL, Holland J, Schwartz C, Roche A, Tarleton J, Wong S, Flint TJ, Froster-Iskenius U, Bentley D, Davies KE, Hirst MC. Molecular heterogeneity of the fragile X syndrome. Nucleic Acids Research. 19: 4355-4359. PMID 1886762 DOI: 10.1093/Nar/19.16.4355 |
0.346 |
|
| 1991 |
Hirst MC, Nakahori Y, Knight SJ, Schwartz C, Thibodeau SN, Roche A, Flint TJ, Connor JM, Fryns JP, Davies KE. Genotype prediction in the fragile X syndrome. Journal of Medical Genetics. 28: 824-9. PMID 1757957 DOI: 10.1136/Jmg.28.12.824 |
0.305 |
|
| 1991 |
Henry I, Bonaiti-Pellié C, Chehensse V, Beldjord C, Schwartz C, Utermann G, Junien C. Uniparental Paternal Disomy In A Genetic Cancer-Predisposing Syndrome Nature. 351: 665-667. PMID 1675767 DOI: 10.1038/351665A0 |
0.3 |
|
| 1987 |
Patterson M, Schwartz C, Bell M, Sauer S, Hofker M, Trask B, van den Engh G, Davies KE. Physical mapping studies on the human X chromosome in the region Xq27-Xqter. Genomics. 1: 297-306. PMID 3482420 DOI: 10.1016/0888-7543(87)90028-0 |
0.3 |
|
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