| Year |
Citation |
Score |
| 2024 |
Montanaro FAM, Mandarino A, Alesi V, Schwartz C, Sepulveda DJC, Skinner C, Friez M, Piccolo G, Novelli A, Zanni G, Dentici ML, Vicari S, Alfieri P. gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports. Frontiers in Psychiatry. 14: 1327802. PMID 38288059 DOI: 10.3389/fpsyt.2023.1327802 |
0.318 |
|
| 2023 |
Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, Stegmann AP, López-Martín E, Bermejo-Sánchez E, Martínez-Delgado B, Zweier C, Kraus C, Popp B, Strehlow V, ... ... Friez MJ, et al. CERT1 mutations perturb human development by disrupting sphingolipid homeostasis. The Journal of Clinical Investigation. PMID 36976648 DOI: 10.1172/JCI165019 |
0.324 |
|
| 2022 |
Schwartz CE, Louie RJ, Toutain A, Skinner C, Friez MJ, Stevenson RE. X-Linked intellectual disability update 2022. American Journal of Medical Genetics. Part A. PMID 36300573 DOI: 10.1002/ajmg.a.63008 |
0.345 |
|
| 2022 |
Cooley Coleman JA, Fee T, Bend R, Louie R, Annese F, Stallworth J, Worthington J, Buchanan CB, Everman DB, Skinner S, Friez MJ, Jones JR, Spellicy CJ. Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome. American Journal of Medical Genetics. Part A. PMID 35924478 DOI: 10.1002/ajmg.a.62913 |
0.33 |
|
| 2022 |
Fang X, Butler KM, Abidi F, Gass J, Beisang A, Feyma T, Ryther RC, Standridge S, Heydemann P, Jones M, Haas R, Lieberman DN, Marsh ED, Benke TA, Skinner S, ... ... Friez MJ, et al. Analysis of X-inactivation status in a Rett syndrome natural history study cohort. Molecular Genetics & Genomic Medicine. e1917. PMID 35318820 DOI: 10.1002/mgg3.1917 |
0.391 |
|
| 2022 |
Wang J, Foroutan A, Richardson E, Skinner SA, Reilly J, Kerkhof J, Curry CJ, Tarpey PS, Robertson SP, Maystadt I, Keren B, Dixon JW, Skinner C, Stapleton R, Ruaud L, ... ... Friez MJ, et al. Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711. European Journal of Human Genetics : Ejhg. PMID 34992252 DOI: 10.1038/s41431-021-01018-1 |
0.305 |
|
| 2021 |
Mikhael S, Dugar S, Morton M, Chorich LP, Tam KB, Lossie AC, Kim HG, Knight J, Taylor HS, Mukherjee S, Capra JA, Phillips JA, Friez M, Layman LC. Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome. Human Genetics. PMID 33469725 DOI: 10.1007/s00439-020-02239-y |
0.322 |
|
| 2021 |
Fang X, Butler K, Abidi F, Gass JM, Beisang A, Feyma T, Ryther R, Standridge S, Heydemann P, Jones M, Haas R, Lieberman D, Marsh E, Benke T, Skinner S, ... ... Friez M, et al. Analysis of X-inactivation status in a Rett syndrome natural history study cohort Molecular Genetics and Metabolism. 132: S239. DOI: 10.1016/S1096-7192(21)00454-6 |
0.33 |
|
| 2021 |
Mohrien C, Schwartz C, Friez M, Skinner C, Lebel RR. KDM5C gene variant and non-syndromic X-linked intellectual disability: an updated case report Molecular Genetics and Metabolism. 132: S195. DOI: 10.1016/S1096-7192(21)00389-9 |
0.384 |
|
| 2020 |
Ziats CA, Patterson WG, Friez M. Syndromic Autism Revisited: Review of the Literature and Lessons Learned. Pediatric Neurology. 114: 21-25. PMID 33189026 DOI: 10.1016/j.pediatrneurol.2020.06.011 |
0.315 |
|
| 2020 |
Louie RJ, Collins DL, Friez MJ, Skinner C, Schwartz CE, Stevenson RE. Schimke XLID syndrome results from a deletion in BCAP31. American Journal of Medical Genetics. Part A. PMID 32681719 DOI: 10.1002/Ajmg.A.61755 |
0.51 |
|
| 2020 |
Aref-Eshghi E, Kerkhof J, Pedro VP, Barat-Houari M, Ruiz-Pallares N, Andrau JC, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, ... ... Friez MJ, et al. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders. American Journal of Human Genetics. PMID 32109418 DOI: 10.1016/J.Ajhg.2020.01.019 |
0.39 |
|
| 2019 |
Louie RJ, Friez MJ, Skinner C, Baraitser M, Clark RD, Schwartz CE, Stevenson RE. Clark-Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12. American Journal of Medical Genetics. Part A. PMID 31814248 DOI: 10.1002/Ajmg.A.61443 |
0.476 |
|
| 2019 |
Tejada MI, Villate O, Ibarluzea N, de la Hoz AB, Martínez-Bouzas C, Beristain E, Martínez F, Friez MJ, Sobrino B, Barros F. Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the Gene Found in a Large Spanish Basque Family (MRX82). Frontiers in Genetics. 10: 1074. PMID 31737052 DOI: 10.3389/fgene.2019.01074 |
0.349 |
|
| 2019 |
Hijazi H, Coelho FS, Gonzaga-Jauregui C, Bernardini L, Mar SS, Manning MA, Hanson-Kahn A, Naidu S, Srivastava S, Lee JA, Jones JR, Friez MJ, Alberico T, Torres B, Fang P, et al. Xq22 deletions and correlation with distinct neurological disease traits in females: further evidence for a contiguous gene syndrome. Human Mutation. PMID 31448840 DOI: 10.1002/Humu.23902 |
0.406 |
|
| 2019 |
Bend EG, Aref-Eshghi E, Everman DB, Rogers RC, Cathey SS, Prijoles EJ, Lyons MJ, Davis H, Clarkson K, Gripp KW, Li D, Bhoj E, Zackai E, Mark P, Hakonarson H, ... ... Friez MJ, et al. Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome. Clinical Epigenetics. 11: 64. PMID 31029150 DOI: 10.1186/S13148-019-0658-5 |
0.437 |
|
| 2019 |
Velho RV, Harms FL, Danyukova T, Ludwig NF, Friez MJ, Cathey SS, Filocamo M, Tappino B, Güneş N, Tüysüz B, Tylee KL, Brammeier KL, Heptinstall L, Oussoren E, van der Ploeg AT, et al. The lysosomal storage disorders mucolipidosis type II, type III alpha/beta and type III gamma: Update on GNPTAB and GNPTG mutations. Human Mutation. PMID 30882951 DOI: 10.1002/Humu.23748 |
0.389 |
|
| 2019 |
Spellicy CJ, Peng Y, Olewiler L, Cathey SS, Rogers RC, Bartholomew D, Johnson J, Alexov E, Lee JA, Friez MJ, Jones JR. Three additional patients with EED-associated overgrowth: potential mutation hotspots identified? Journal of Human Genetics. PMID 30858506 DOI: 10.1038/S10038-019-0585-5 |
0.446 |
|
| 2019 |
Nampoothiri S, Elcioglu NH, Koca SS, Yesodharan D, Kk C, Krishnan V, Bhat M, Mohandas Nair K, Radhakrishnan N, Kappanayil M, Sheth JJ, Alves S, Coutinho F, Friez MJ, Pauli RM, et al. Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients. Clinical Dysmorphology. 28: 7-16. PMID 30507725 DOI: 10.1097/Mcd.0000000000000249 |
0.427 |
|
| 2018 |
Warren HE, Louie RJ, Friez MJ, Frías JL, Leroy JG, Spranger JW, Skinner SA, Champaigne NL. Two unrelated patients with autosomal dominant omodysplasia and mutations. Clinical Case Reports. 6: 2252-2255. PMID 30455931 DOI: 10.1002/Ccr3.1818 |
0.437 |
|
| 2018 |
Latham SL, Ehmke N, Reinke PYA, Taft MH, Eicke D, Reindl T, Stenzel W, Lyons MJ, Friez MJ, Lee JA, Hecker R, Frühwald MC, Becker K, Neuhann TM, Horn D, et al. Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia. Nature Communications. 9: 4930. PMID 30451859 DOI: 10.1038/S41467-018-07404-6 |
0.302 |
|
| 2018 |
Latham SL, Ehmke N, Reinke PYA, Taft MH, Eicke D, Reindl T, Stenzel W, Lyons MJ, Friez MJ, Lee JA, Hecker R, Frühwald MC, Becker K, Neuhann TM, Horn D, et al. Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia. Nature Communications. 9: 4250. PMID 30315159 DOI: 10.1038/S41467-018-06713-0 |
0.428 |
|
| 2018 |
Stevenson RE, Chudley AE, Srivastava AK, Rodriguez J, Friez MJ, Schwartz CE. UBE2A-related X-linked intellectual disability. Clinical Dysmorphology. PMID 30179896 DOI: 10.1097/Mcd.0000000000000242 |
0.405 |
|
| 2018 |
Stevenson RE, Vincent V, Spellicy CJ, Friez MJ, Chaubey A. Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome. American Journal of Medical Genetics. Part A. PMID 30113773 DOI: 10.1002/Ajmg.A.40362 |
0.488 |
|
| 2018 |
Vallianatos CN, Farrehi C, Friez MJ, Burmeister M, Keegan CE, Iwase S. Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability. Frontiers in Molecular Neuroscience. 11: 104. PMID 29670509 DOI: 10.3389/fnmol.2018.00104 |
0.399 |
|
| 2017 |
Louie RJ, Tan QK, Gilner JB, Rogers RC, Younge N, Wechsler SB, McDonald MT, Gordon B, Saski CA, Jones JR, Chapman SJ, Stevenson RE, Sleasman JW, Friez MJ. Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound. American Journal of Medical Genetics. Part A. PMID 28317311 DOI: 10.1002/Ajmg.A.38144 |
0.465 |
|
| 2016 |
Molinero I, Broman-Fulks J, Lyons MJ, Matheus MG, Chaubey A, DuPont BR, Friez MJ, Skinner SA, Holden KR. Importance of genetic testing in global health during the evaluation of familial microcephaly. Clinical Case Reports. 4: 968-971. PMID 27761248 DOI: 10.1002/Ccr3.669 |
0.312 |
|
| 2016 |
Smith JA, Holden KR, Friez MJ, Jones JR, Lyons MJ. A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features. American Journal of Medical Genetics. Part A. PMID 27570168 DOI: 10.1002/Ajmg.A.37945 |
0.511 |
|
| 2016 |
Sajan SA, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Glaze DG, Kaufmann WE, Skinner SA, Annese F, Friez MJ, Lane J, Percy AK, Neul JL. Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 27171548 DOI: 10.1038/Gim.2016.42 |
0.483 |
|
| 2016 |
Champaigne NL, Leroy JG, Kishnani PS, Decaestecker J, Steenkiste E, Chaubey A, Li J, Verslype C, Van Dorpe J, Pollard L, Goldstein JL, Libbrecht L, Basehore M, Chen N, Hu H, ... ... Friez MJ, et al. New observation of sialuria prompts detection of liver tumor in previously reported patient. Molecular Genetics and Metabolism. PMID 27142465 DOI: 10.1016/J.Ymgme.2016.04.004 |
0.34 |
|
| 2016 |
Friez MJ, Brooks SS, Stevenson RE, Field M, Basehore MJ, Adès LC, Sebold C, McGee S, Saxon S, Skinner C, Craig ME, Murray L, Simensen RJ, Yap YY, Shaw MA, et al. HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study. Bmj Open. 6: e009537. PMID 27130160 DOI: 10.1136/Bmjopen-2015-009537 |
0.56 |
|
| 2016 |
Lindy AS, Basehore MJ, Munisha M, Williams AL, Friez MJ, Writzl K, Willems P, Dougan ST. Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1. American Journal of Medical Genetics. Part A. PMID 27028100 DOI: 10.1002/Ajmg.A.37609 |
0.42 |
|
| 2016 |
Chaubey A, Friez MJ, DuPont BR. Microarray and Next Generation Sequencing: Complementary Technologies for Diagnosing Autosomal Recessive Disorders Cancer Genetics and Cytogenetics. 209: 239. DOI: 10.1016/J.Cancergen.2016.05.032 |
0.301 |
|
| 2015 |
Langley KG, Brown J, Gerber RJ, Fox J, Friez MJ, Lyons M, Schrier Vergano SA. Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum. American Journal of Medical Genetics. Part A. PMID 26338144 DOI: 10.1002/Ajmg.A.37354 |
0.548 |
|
| 2015 |
Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière JB, Isidor B, Gan G, Francannet C, Willems M, Gunel M, ... ... Friez MJ, et al. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. European Journal of Human Genetics : Ejhg. PMID 25920557 DOI: 10.1038/Ejhg.2015.29 |
0.5 |
|
| 2015 |
Basehore MJ, Michaelson-Cohen R, Levy-Lahad E, Sismani C, Bird LM, Friez MJ, Walsh T, Abidi F, Holloway L, Skinner C, McGee S, Alexandrou A, Syrrou M, Patsalis PC, Raymond G, et al. Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X). Clinical Genetics. 87: 461-6. PMID 24805811 DOI: 10.1111/Cge.12420 |
0.447 |
|
| 2015 |
Bronicki L, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière J, Isidor B, Gan G, Francannet C, Gunel M, Jones J, ... ... Friez M, et al. MG-112 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A Journal of Medical Genetics. 52. DOI: 10.1136/Jmedgenet-2015-103577.6 |
0.509 |
|
| 2014 |
Dwivedi AC, Lyons MJ, Kwiatkowski K, Bartel FO, Friez MJ, Holden KR, Fung ET, DuPont BR. Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism. Molecular Cytogenetics. 7: 93. PMID 25530805 DOI: 10.1186/S13039-014-0093-4 |
0.383 |
|
| 2014 |
Lindy AS, Bupp CP, McGee SJ, Steed E, Stevenson RE, Basehore MJ, Friez MJ. Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome. American Journal of Medical Genetics. Part A. 164: 2391-7. PMID 24924585 DOI: 10.1002/Ajmg.A.36647 |
0.445 |
|
| 2014 |
Hunter AG, Graham JM, Neri G, Rogers RC, Stevenson RE, Turner G, Friez MJ. The intellectual disabilities evaluation and advice system (IDEAS): outcome of the first 55 cases. American Journal of Medical Genetics. Part A. 164: 1102-17. PMID 24665081 DOI: 10.1002/Ajmg.A.36456 |
0.404 |
|
| 2014 |
Basehore MJ, Friez MJ. Molecular analysis of fragile X syndrome. Current Protocols in Human Genetics / Editorial Board, Jonathan L. Haines ... [Et Al.]. 80: Unit 9.5.. PMID 24510684 DOI: 10.1002/0471142905.hg0905s80 |
0.392 |
|
| 2014 |
Scott Schwoerer J, Laffin J, Haun J, Raca G, Friez MJ, Giampietro PF. MECP2 duplication: possible cause of severe phenotype in females. American Journal of Medical Genetics. Part A. 164: 1029-34. PMID 24458799 DOI: 10.1002/Ajmg.A.36380 |
0.49 |
|
| 2014 |
Leroy JG, Sillence D, Wood T, Barnes J, Lebel RR, Friez MJ, Stevenson RE, Steet R, Cathey SS. A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain. European Journal of Human Genetics : Ejhg. 22: 594-601. PMID 24045841 DOI: 10.1038/Ejhg.2013.207 |
0.346 |
|
| 2013 |
Friez MJ, Basehore MJ. NGS improves the diagnosis of x-linked intellectual disability (XLID) Next Generation Sequencing: Translation to Clinical Diagnostics. 167-186. DOI: 10.1007/978-1-4614-7001-4_9 |
0.366 |
|
| 2012 |
Zhou H, Spaeth JM, Kim NH, Xu X, Friez MJ, Schwartz CE, Boyer TG. MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling. Proceedings of the National Academy of Sciences of the United States of America. 109: 19763-8. PMID 23091001 DOI: 10.1073/Pnas.1121120109 |
0.504 |
|
| 2012 |
Basehore MJ, Marlowe NM, Jones JR, Behlendorf DE, Laver TA, Friez MJ. Validation of a screening tool for the rapid and reliable detection of CGG trinucleotide repeat expansions in FMR1. Genetic Testing and Molecular Biomarkers. 16: 465-70. PMID 22224633 DOI: 10.1089/Gtmb.2011.0134 |
0.408 |
|
| 2011 |
Franek KJ, Butler J, Johnson J, Simensen R, Friez MJ, Bartel F, Moss T, DuPont B, Berry K, Bauman M, Skinner C, Stevenson RE, Schwartz CE. Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism. American Journal of Medical Genetics. Part A. 155: 1109-14. PMID 21484992 DOI: 10.1002/Ajmg.A.33833 |
0.507 |
|
| 2010 |
Schroer RJ, Holden KR, Tarpey PS, Matheus MG, Griesemer DA, Friez MJ, Fan JZ, Simensen RJ, Strømme P, Stevenson RE, Stratton MR, Schwartz CE. Natural history of Christianson syndrome. American Journal of Medical Genetics. Part A. 152: 2775-83. PMID 20949524 DOI: 10.1002/Ajmg.A.33093 |
0.502 |
|
| 2010 |
Soltanzadeh P, Friez MJ, Dunn D, von Niederhausern A, Gurvich OL, Swoboda KJ, Sampson JB, Pestronk A, Connolly AM, Florence JM, Finkel RS, Bönnemann CG, Medne L, Mendell JR, Mathews KD, et al. Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscular Disorders : Nmd. 20: 499-504. PMID 20630757 DOI: 10.1016/j.nmd.2010.05.010 |
0.375 |
|
| 2010 |
Garbern JY, Neumann M, Trojanowski JQ, Lee VM, Feldman G, Norris JW, Friez MJ, Schwartz CE, Stevenson R, Sima AA. A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition. Brain : a Journal of Neurology. 133: 1391-402. PMID 20395263 DOI: 10.1093/Brain/Awq071 |
0.348 |
|
| 2010 |
Cathey SS, Leroy JG, Wood T, Eaves K, Simensen RJ, Kudo M, Stevenson RE, Friez MJ. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. Journal of Medical Genetics. 47: 38-48. PMID 19617216 DOI: 10.1136/Jmg.2009.067736 |
0.32 |
|
| 2009 |
Clark RD, Graham JM, Friez MJ, Hoo JJ, Jones KL, McKeown C, Moeschler JB, Raymond FL, Rogers RC, Schwartz CE, Battaglia A, Lyons MJ, Stevenson RE. FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 11: 769-75. PMID 19938245 DOI: 10.1097/Gim.0B013E3181Bd3D90 |
0.516 |
|
| 2009 |
Basehore MJ, Friez MJ. Molecular analysis of Fragile X syndrome. Current Protocols in Human Genetics / Editorial Board, Jonathan L. Haines ... [Et Al.]. Unit 9.5. PMID 19806593 DOI: 10.1002/0471142905.Hg0905S63 |
0.484 |
|
| 2009 |
Cohn DM, Pagon RA, Hudgins L, Schwartz CE, Stevenson RE, Friez MJ. Partial ATRX gene duplication causes ATR-X syndrome. American Journal of Medical Genetics. Part A. 149: 2317-20. PMID 19764021 DOI: 10.1002/Ajmg.A.33006 |
0.677 |
|
| 2009 |
Slavotinek A, Crawford H, Golabi M, Tao C, Perry H, Oberoi S, Vargervik K, Friez M. Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome. American Journal of Medical Genetics. Part A. 149: 1814-7. PMID 19610084 DOI: 10.1002/Ajmg.A.32947 |
0.439 |
|
| 2009 |
Bedoyan JK, Friez MJ, DuPont B, Ahmad A. First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. European Journal of Medical Genetics. 52: 262-4. PMID 19110080 DOI: 10.1016/J.Ejmg.2008.12.001 |
0.525 |
|
| 2009 |
Lyons MJ, Graham JM, Neri G, Hunter AG, Clark RD, Rogers RC, Moscarda M, Boccuto L, Simensen R, Dodd J, Robertson S, DuPont BR, Friez MJ, Schwartz CE, Stevenson RE. Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome. Journal of Medical Genetics. 46: 9-13. PMID 18805826 DOI: 10.1136/Jmg.2008.060509 |
0.527 |
|
| 2008 |
Graham JM, Visootsak J, Dykens E, Huddleston L, Clark RD, Jones KL, Moeschler JB, Opitz JM, Morford J, Simensen R, Rogers RC, Schwartz CE, Friez MJ, Stevenson RE. Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene. American Journal of Medical Genetics. Part A. 146: 3011-7. PMID 18973276 DOI: 10.1002/Ajmg.A.32553 |
0.444 |
|
| 2008 |
Saul RA, Friez M, Eaves K, Stapleton GA, Collins JS, Schwartz CE, Stevenson RE. Fragile X syndrome detection in newborns-pilot study. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 10: 714-9. PMID 18813135 DOI: 10.1097/Gim.0B013E3181862A76 |
0.422 |
|
| 2008 |
Jones JR, Skinner C, Friez MJ, Schwartz CE, Stevenson RE. Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders. American Journal of Medical Genetics. Part A. 146: 2213-20. PMID 18698615 DOI: 10.1002/Ajmg.A.32396 |
0.386 |
|
| 2008 |
Ding N, Zhou H, Esteve PO, Chin HG, Kim S, Xu X, Joseph SM, Friez MJ, Schwartz CE, Pradhan S, Boyer TG. Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation. Molecular Cell. 31: 347-59. PMID 18691967 DOI: 10.1016/J.Molcel.2008.05.023 |
0.382 |
|
| 2008 |
Wallerstein R, Sugalski R, Cohn L, Jawetz R, Friez M. Expansion of the ARX spectrum. Clinical Neurology and Neurosurgery. 110: 631-4. PMID 18462864 DOI: 10.1016/j.clineuro.2008.03.007 |
0.335 |
|
| 2007 |
Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM, Risheg H, Friez MJ, Futreal PA, Edkins S, Teague J, Briault S, Skinner C, Bauer-Carlin A, Simensen RJ, Joseph SM, et al. The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. Journal of Medical Genetics. 44: 472-7. PMID 17369503 DOI: 10.1136/Jmg.2006.048637 |
0.537 |
|
| 2007 |
Risheg H, Graham JM, Clark RD, Rogers RC, Opitz JM, Moeschler JB, Peiffer AP, May M, Joseph SM, Jones JR, Stevenson RE, Schwartz CE, Friez MJ. A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nature Genetics. 39: 451-3. PMID 17334363 DOI: 10.1038/Ng1992 |
0.508 |
|
| 2006 |
Friez MJ, Jones JR, Clarkson K, Lubs H, Abuelo D, Bier JA, Pai S, Simensen R, Williams C, Giampietro PF, Schwartz CE, Stevenson RE. Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics. 118: e1687-95. PMID 17088400 DOI: 10.1542/Peds.2006-0395 |
0.452 |
|
| 2006 |
Wang RY, Jones JR, Chen S, Rogers RC, Friez MJ, Schwartz CE, Graham JM. A previously unreported mutation in a Currarino syndrome kindred. American Journal of Medical Genetics. Part A. 140: 1923-30. PMID 16906559 DOI: 10.1002/Ajmg.A.31420 |
0.488 |
|
| 2006 |
Kankirawatana P, Leonard H, Ellaway C, Scurlock J, Mansour A, Makris CM, Dure LS, Friez M, Lane J, Kiraly-Borri C, Fabian V, Davis M, Jackson J, Christodoulou J, Kaufmann WE, et al. Early progressive encephalopathy in boys and MECP2 mutations. Neurology. 67: 164-6. PMID 16832102 DOI: 10.1212/01.wnl.0000223318.28938.45 |
0.349 |
|
| 2006 |
Basel-Vanagaite L, Straussberg R, Friez MJ, Inbar D, Korenreich L, Shohat M, Schwartz CE. Expanding the phenotypic spectrum of L1CAM-associated disease Clinical Genetics. 69: 414-419. PMID 16650080 DOI: 10.1111/J.1399-0004.2006.00607.X |
0.414 |
|
| 2006 |
Shalev SA, Chervinski E, Weiner E, Mazor G, Friez MJ, Schwartz CE. Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. American Journal of Medical Genetics. Part A. 140: 162-5. PMID 16353258 DOI: 10.1002/Ajmg.A.31033 |
0.462 |
|
| 2006 |
Louis E, Moskowitz C, Friez M, Amaya M, Vonsattel JP. Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: a clinical-pathological study. Movement Disorders : Official Journal of the Movement Disorder Society. 21: 420-5. PMID 16250026 DOI: 10.1002/Mds.20753 |
0.35 |
|
| 2004 |
Mnatzakanian GN, Lohi H, Munteanu I, Alfred SE, Yamada T, MacLeod PJ, Jones JR, Scherer SW, Schanen NC, Friez MJ, Vincent JB, Minassian BA. A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nature Genetics. 36: 339-41. PMID 15034579 DOI: 10.1038/ng1327 |
0.412 |
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| 2000 |
Michaelis RC, Copeland-Yates SA, Sossey-Alaoui K, Skinner C, Friez MJ, Longshore JW, Simensen RJ, Schroer RJ, Stevenson RE. The HOPA gene dodecamer duplication is not a significant etiological factor in autism Journal of Autism and Developmental Disorders. 30: 355-358. PMID 11039861 DOI: 10.1023/A:1005583517994 |
0.395 |
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| 2000 |
Friez MJ, Essop FB, Krause A, Castiglia L, Ragusa A, Sossey-Alaoui K, Nelson RL, May MM, Michaelis RC, Srivastava AK, Schwartz CE, Stevenson RE, Goldman A, Villard L, Longshore JW. Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation. Human Genetics. 106: 36-9. PMID 10982179 DOI: 10.1007/S004390051006 |
0.382 |
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