Guan-En Graham - Publications

Affiliations: 
Rutgers - Robert Wood Johnson Medical School - Brain Health Institute 
Area:
Neuroepigenetics

1/49 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 Zipperly ME, Sultan FA, Graham GE, Brane AC, Simpkins NA, Carullo NVN, Ianov L, Day JJ. Regulation of dopamine-dependent transcription and cocaine action by Gadd45b. Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology. PMID 32927466 DOI: 10.1038/S41386-020-00828-Z  0.92
Low-probability matches
2019 Bhola PT, Liddy C, Afkham A, Keely E, Graham GE. A pilot eConsultation service in Eastern Ontario: bridging clinical genetics and primary care. European Journal of Human Genetics : Ejhg. PMID 30778171 DOI: 10.1038/s41431-019-0342-4  0.01
2018 Kernohan KD, Hartley T, Naumenko S, Armour CM, Graham GE, Nikkel SM, Lines M, Geraghty MT, Richer J, Mears W, Boycott KM, Dyment DA. Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit. American Journal of Medical Genetics. Part A. 176: 1688-1691. PMID 30160830 DOI: 10.1002/ajmg.a.38838  0.01
2018 Au PYB, Goedhart C, Ferguson M, Breckpot J, Devriendt K, Wierenga K, Fanning E, Grange DK, Graham GE, Galarreta C, Jones MC, Kini U, Stewart H, Parboosingh JS, Kline AD, et al. Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature. European Journal of Human Genetics : Ejhg. PMID 29904177 DOI: 10.1038/s41431-018-0187-2  0.01
2018 Bhola PT, Gilpin C, Smith A, Graham GE. A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC). Familial Cancer. PMID 29423582 DOI: 10.1007/s10689-018-0076-4  0.01
2017 Malam F, Hartley T, Gillespie MK, Armour CM, Bariciak E, Graham GE, Nikkel SM, Richer J, Sawyer SL, Boycott KM, Dyment DA. Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort. American Journal of Medical Genetics. Part A. PMID 28488422 DOI: 10.1002/ajmg.a.38250  0.01
2016 Hong CJ, Caulley L, Kohlert S, Graham GE, McMillan HJ, Michaud J, Vaccani JP. Congenital Trismus From Brainstem Dysgenesis: Case Report and Review of Literature. Pediatrics. PMID 27255150 DOI: 10.1542/Peds.2015-4605  0.01
2016 Daoud H, Luco SM, Li R, Bareke E, Beaulieu C, Jarinova O, Carson N, Nikkel SM, Graham GE, Richer J, Armour C, Bulman DE, Chakraborty P, Geraghty M, Lines MA, et al. Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. Cmaj : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne. PMID 27241786 DOI: 10.1503/cmaj.150823  0.01
2016 Lowther C, Speevak M, Armour CM, Goh ES, Graham GE, Li C, Zeesman S, Nowaczyk MJ, Schultz LA, Morra A, Nicolson R, Bikangaga P, Samdup D, Zaazou M, Boyd K, et al. Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 27195815 DOI: 10.1038/Gim.2016.54  0.01
2015 Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Chardon JW, Chitayat D, Deladoëy J, Fernandez BA, ... ... Graham GE, et al. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clinical Genetics. PMID 26283276 DOI: 10.1111/Cge.12654  0.01
2015 Gripp KW, Sol-Church K, Smpokou P, Graham GE, Stevenson DA, Hanson H, Viskochil DH, Baker LC, Russo B, Gardner N, Stabley DL, Kolbe V, Rosenberger G. An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences. American Journal of Medical Genetics. Part A. PMID 25914166 DOI: 10.1002/ajmg.a.37128  0.01
2015 Murray JE, van der Burg M, IJspeert H, Carroll P, Wu Q, Ochi T, Leitch A, Miller ES, Kysela B, Jawad A, Bottani A, Brancati F, Cappa M, Cormier-Daire V, Deshpande C, ... ... Graham GE, et al. Mutations in the NHEJ component XRCC4 cause primordial dwarfism. American Journal of Human Genetics. 96: 412-24. PMID 25728776 DOI: 10.1016/J.Ajhg.2015.01.013  0.01
2014 Violette PD, Kamel-Reid S, Graham GE, Reaume MN, Jewett MA, Care M, Basiuk J, Pautler SE. Knowledge of genetic testing for hereditary kidney cancer in Canada is lacking: The results of the Canadian national hereditary kidney cancer needs assessment survey. Canadian Urological Association Journal = Journal De L'Association Des Urologues Du Canada. 8: E832-40. PMID 25485012 DOI: 10.5489/Cuaj.2415  0.01
2014 Graham GE, Jones R, Derry D. Tuberculous granuloma: a rare cause of a non-healing ulcer. Bmj Case Reports. 2014. PMID 25410031 DOI: 10.1136/bcr-2014-205899  0.01
2014 Smith AC, Mears AJ, Bunker R, Ahmed A, MacKenzie M, Schwartzentruber JA, Beaulieu CL, Ferretti E, Majewski J, Bulman DE, Celik FC, Boycott KM, Graham GE. Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia. Journal of Medical Genetics. 51: 470-4. PMID 24706940 DOI: 10.1136/Jmedgenet-2013-102218  0.01
2014 Götherström C, Westgren M, Shaw SW, Aström E, Biswas A, Byers PH, Mattar CN, Graham GE, Taslimi J, Ewald U, Fisk NM, Yeoh AE, Lin JL, Cheng PJ, Choolani M, et al. Pre- and postnatal transplantation of fetal mesenchymal stem cells in osteogenesis imperfecta: a two-center experience. Stem Cells Translational Medicine. 3: 255-64. PMID 24342908 DOI: 10.5966/Sctm.2013-0090  0.01
2014 Nowaczyk MJM, Thompson BA, Zeesman S, Moog U, Sanchez-Lara PA, Magoulas PL, Falk RE, Hoover-Fong JE, Batista DAS, Amudhavalli SM, White SM, Graham GE, Rauen KA. Deletion of MAP2K2/MEK2: A novel mechanism for a RASopathy? Clinical Genetics. 85: 138-146. PMID 23379592 DOI: 10.1111/cge.12116  0.01
2013 Reaume MN, Graham GE, Tomiak E, Kamel-Reid S, Jewett MA, Bjarnason GA, Blais N, Care M, Drachenberg D, Gedye C, Grant R, Heng DY, Kapoor A, Kollmannsberger C, Lattouf JB, et al. Canadian guideline on genetic screening for hereditary renal cell cancers. Canadian Urological Association Journal = Journal De L'Association Des Urologues Du Canada. 7: 319-23. PMID 24319509 DOI: 10.5489/Cuaj.1496  0.01
2013 Bode A, Wood SE, Mullins JG, Keramidas A, Cushion TD, Thomas RH, Pickrell WO, Drew CJ, Masri A, Jones EA, Vassallo G, Born AP, Alehan F, Aharoni S, Bannasch G, ... ... Graham GE, et al. New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. The Journal of Biological Chemistry. 288: 33745-59. PMID 24108130 DOI: 10.1074/Jbc.M113.509240  0.01
2013 Carroll JC, Rideout A, Wilson BJ, Allanson J, Blaine S, Esplen MJ, Farrell S, Graham GE, MacKenzie J, Meschino WS, Prakash P, Shuman C, Taylor S, Tobin S. Maternal age-based prenatal screening for chromosomal disorders: attitudes of women and health care providers toward changes. Canadian Family Physician MéDecin De Famille Canadien. 59: e39-47. PMID 23341678  0.01
2013 Al-Hertani W, Hastings VA, McGowan-Jordan J, Hurteau J, Graham GE. Severe craniosynostosis in an infant with deletion 22q11.2 syndrome. American Journal of Medical Genetics. Part A. 161: 153-7. PMID 23239640 DOI: 10.1002/ajmg.a.35491  0.01
2012 Carta E, Chung SK, James VM, Robinson A, Gill JL, Remy N, Vanbellinghen JF, Drew CJ, Cagdas S, Cameron D, Cowan FM, Del Toro M, Graham GE, Manzur AY, Masri A, et al. Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease. The Journal of Biological Chemistry. 287: 28975-85. PMID 22700964 DOI: 10.1074/Jbc.M112.372094  0.01
2011 Armour CM, Bulman DE, Jarinova O, Rogers RC, Clarkson KB, DuPont BR, Dwivedi A, Bartel FO, McDonell L, Schwartz CE, Boycott KM, Everman DB, Graham GE. 17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD). European Journal of Human Genetics : Ejhg. 19: 1144-51. PMID 21629300 DOI: 10.1038/ejhg.2011.97  0.01
2011 Mineyko A, Whiting S, Graham GE. Hyperekplexia: treatment of a severe phenotype and review of the literature. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 38: 411-6. PMID 21515498  0.01
2011 Gripp KW, Hopkins E, Sol-Church K, Stabley DL, Axelrad ME, Doyle D, Dobyns WB, Hudson C, Johnson J, Tenconi R, Graham GE, Sousa AB, Heller R, Piccione M, Corsello G, et al. Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C American Journal of Medical Genetics, Part A. 155: 706-716. PMID 21438134 DOI: 10.1002/Ajmg.A.33884  0.01
2011 Argiropoulos B, Carter M, Brierley K, Hare H, Bouchard A, Al-Hertani W, Ryan SR, Reid J, Basik M, McGowan-Jordan J, Graham GE. Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication. American Journal of Medical Genetics. Part A. 155: 885-91. PMID 21416596 DOI: 10.1002/ajmg.a.33918  0.01
2010 Mease PJ, Wei N, Fudman EJ, Kivitz AJ, Schechtman J, Trapp RG, Hobbs KF, Greenwald M, Hou A, Bookbinder SA, Graham GE, Wiesenhutter CW, Willis L, Ruderman EM, Forstot JZ, et al. Safety, tolerability, and clinical outcomes after intraarticular injection of a recombinant adeno-associated vector containing a tumor necrosis factor antagonist gene: results of a phase 1/2 Study. The Journal of Rheumatology. 37: 692-703. PMID 20032102 DOI: 10.3899/jrheum.090817  0.01
2009 Carroll JC, Rideout AL, Wilson BJ, Allanson JM, Blaine SM, Esplen MJ, Farrell SA, Graham GE, MacKenzie J, Meschino W, Miller F, Prakash P, Shuman C, Summers A, Taylor S. Genetic education for primary care providers: improving attitudes, knowledge, and confidence. Canadian Family Physician Mã©Decin De Famille Canadien. 55: e92-9. PMID 20008584  0.01
2009 Carter MT, Picketts DJ, Hunter AG, Graham GE. Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations. American Journal of Medical Genetics. Part A. 149: 246-50. PMID 19161141 DOI: 10.1002/ajmg.a.32624  0.01
2009 Kogan CS, Boutet I, Cornish K, Graham GE, Berry-Kravis E, Drouin A, Milgram NW. A comparative neuropsychological test battery differentiates cognitive signatures of Fragile X and Down syndrome. Journal of Intellectual Disability Research : Jidr. 53: 125-42. PMID 19054268 DOI: 10.1111/j.1365-2788.2008.01135.x  0.01
2008 Tyson C, Qiao Y, Harvard C, Liu X, Bernier FP, McGillivray B, Farrell SA, Arbour L, Chudley AE, Clarke L, Gibson W, Dyack S, McLeod R, Costa T, Vanallen MI, ... ... Graham GE, et al. Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH. Molecular Cytogenetics. 1: 23. PMID 19000322 DOI: 10.1186/1755-8166-1-23  0.01
2008 Marcelis CL, Hol FA, Graham GE, Rieu PN, Kellermayer R, Meijer RP, Lugtenberg D, Scheffer H, van Bokhoven H, Brunner HG, de Brouwer AP. Genotype-phenotype correlations in MYCN-related Feingold syndrome. Human Mutation. 29: 1125-32. PMID 18470948 DOI: 10.1002/Humu.20750  0.01
2008 Armstrong L, Graham GE, Schimke RN, Collins DL, Kirse DJ, Costello F, Ardinger HH. The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: an update and review. American Journal of Medical Genetics. Part A. 146: 83-92. PMID 17972300 DOI: 10.1002/ajmg.a.31998  0.01
2006 Rees MI, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas P, Beatty S, Graham GE, Armstrong L, Shiang R, Abbott KJ, Zuberi SM, Stephenson JB, Owen MJ, Tijssen MA, et al. Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease. Nature Genetics. 38: 801-6. PMID 16751771 DOI: 10.1038/Ng1814  0.01
2005 Aretz S, Stienen D, Uhlhaas S, Loff S, Back W, Pagenstecher C, McLeod DR, Graham GE, Mangold E, Santer R, Propping P, Friedl W. High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Human Mutation. 26: 513-9. PMID 16287113 DOI: 10.1002/humu.20253  0.01
2005 McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, Gilbert F, Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL, Smith WE, Spencer RH, et al. TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatric Research. 58: 981-6. PMID 16183809 DOI: 10.1203/01.Pdr.0000182593.95441.64  0.01
2004 Vallée D, Chevrier E, Graham GE, Lazzaro MA, Lavigne PA, Hunter AG, Picketts DJ. A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome. Journal of Medical Genetics. 41: 778-83. PMID 15466013 DOI: 10.1136/jmg.2004.020370  0.01
2002 Nezarati MM, Loeffler J, Yoon G, MacLaren L, Fung E, Snyder F, Utermann G, Graham GE. Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome. American Journal of Medical Genetics. 110: 103-8. PMID 12116246 DOI: 10.1002/ajmg.10367  0.01
2001 Lowry RB, Jabs EW, Graham GE, Gerritsen J, Fleming J. Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene. American Journal of Medical Genetics. 104: 112-9. PMID 11746040 DOI: 10.1002/Ajmg.10049  0.01
2000 Graham GE, Graham LM, Bridge PJ, Maclaren LD, Wolff JEA, Coppes MJ, Egeler RM. Further evidence for genetic heterogeneity in familial hemophagocytic lymphohistiocytosis (FHLH). Pediatric Research. 48: 227-32. PMID 10926299 DOI: 10.1203/00006450-200008000-00017  0.01
1999 Graham GE, Allanson JE. Congenital cholesteatoma and malformations of the facial nerve: rare manifestations of the BOR syndrome. American Journal of Medical Genetics. 86: 20-6. PMID 10440824 DOI: 10.1002/(SICI)1096-8628(19990903)86:1<20::AID-AJMG5>3.0.CO;2-H  0.01
1999 Mardy S, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y. Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor. American Journal of Human Genetics. 64: 1570-9. PMID 10330344 DOI: 10.1086/302422  0.01
1999 Elliott AM, Graham GE, Bernstein M, Mazer B, Teebi AS. Dyskeratosis congenita: An autosomal recessive variant American Journal of Medical Genetics. 83: 178-182. PMID 10096592 DOI: 10.1002/(SICI)1096-8628(19990319)83:3<178::AID-AJMG6>3.0.CO;2-3  0.01
1998 Zori RT, Marsh DJ, Graham GE, Marliss EB, Eng C. Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. American Journal of Medical Genetics. 80: 399-402. PMID 9856571 DOI: 10.1002/(Sici)1096-8628(19981204)80:4<399::Aid-Ajmg18>3.0.Co;2-O  0.01
1998 Graham GE, Silver K, Arlet V, Der Kaloustian VM. King syndrome: further clinical variability and review of the literature. American Journal of Medical Genetics. 78: 254-9. PMID 9677061 DOI: 10.1002/(SICI)1096-8628(19980707)78:3<254::AID-AJMG9>3.0.CO;2-P  0.01
1998 Carethers JM, Furnari FB, Zigman AF, Lavine JE, Jones MC, Graham GE, Teebi AS, Huang HJ, Ha HT, Chauhan DP, Chang CL, Cavenee WK, Boland CR. Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. Cancer Research. 58: 2724-6. PMID 9661881  0.01
1992 Graham GE, MacLeod PM, Lillicrap DP, Bridge PJ. Gonadal mosaicism in a family with adrenoleukodystrophy: molecular diagnosis of carrier status among daughters of a gonadal mosaic when direct detection of the mutation is not possible. Journal of Inherited Metabolic Disease. 15: 68-74. PMID 1583878  0.01
1981 Graham GE. Intraoperative straight-leg raising during laminectomy and disk excision for sciatica Clinical Orthopaedics and Related Research. 343-344. PMID 7471586  0.01
1975 Winstead MB, Widner PJ, Means JL, Engstrom MA, Graham GE, Khentigan A, Lin TH, Lamb JF, Winchell HS. Relationship of chemical structure and solvent to in vivo scintigraphic distribution patterns of 11C compounds. II. 11C aminonitriles. Journal of Nuclear Medicine : Official Publication, Society of Nuclear Medicine. 16: 1049-57. PMID 1185267  0.01
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