 Connection
Ellen Elias to Humans
This is a "connection" page, showing publications Ellen Elias has written about Humans.
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Connection Strength |
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0.170 |
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Shelkowitz E, Singh JK, Larson A, Elias ER. IRF2BPL gene mutation: Expanding on neurologic phenotypes. Am J Med Genet A. 2019 11; 179(11):2263-2271.
Score: 0.019
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Elias ER. The Trials of Transition: How Well We Are Doing, and How We Can Do Better. J Grad Med Educ. 2017 Apr; 9(2):228-230.
Score: 0.016
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Elias ER, Murphy NA. Home care of children and youth with complex health care needs and technology dependencies. Pediatrics. 2012 May; 129(5):996-1005.
Score: 0.011
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Pickler L, Elias E. Genetic evaluation of the child with an autism spectrum disorder. Pediatr Ann. 2009 Jan; 38(1):26-9.
Score: 0.009
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Murphy NA, Elias ER. Sexuality of children and adolescents with developmental disabilities. Pediatrics. 2006 Jul; 118(1):398-403.
Score: 0.007
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Elias ER, Hansen RM, Irons M, Quinn NB, Fulton AB. Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome. Arch Ophthalmol. 2003 Dec; 121(12):1738-43.
Score: 0.006
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Crenshaw MM, Meyers ML, Brown K, Slegesky V, Duis J, Elias ER, Saenz M, Shi W, Filmus J, Meeks NJL. Five siblings expand the spectrum of GPC6-related skeletal dysplasia. Am J Med Genet A. 2023 10; 191(10):2571-2577.
Score: 0.006
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Houtrow A, Elias ER, Davis BE. Promoting Healthy Sexuality for Children and Adolescents With Disabilities. Pediatrics. 2021 07; 148(1).
Score: 0.005
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El Hayek L, Tuncay IO, Nijem N, Russell J, Ludwig S, Kaur K, Li X, Anderton P, Tang M, Gerard A, Heinze A, Zacher P, Alsaif HS, Rad A, Hassanpour K, Abbaszadegan MR, Washington C, DuPont BR, Louie RJ, Couse M, Faden M, Rogers RC, Abou Jamra R, Elias ER, Maroofian R, Houlden H, Lehman A, Beutler B, Chahrour MH. KDM5A mutations identified in autism spectrum disorder using forward genetics. Elife. 2020 12 22; 9.
Score: 0.005
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Tian LH, Wiggins LD, Schieve LA, Yeargin-Allsopp M, Dietz P, Aylsworth AS, Elias ER, Hoover-Fong JE, Meeks NJL, Souders MC, Tsai AC, Zackai EH, Alexander AA, Dowling NF, Shapira SK. Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder. Autism Res. 2020 07; 13(7):1227-1238.
Score: 0.005
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Hallgr?msson B, Aponte JD, Katz DC, Bannister JJ, Riccardi SL, Mahasuwan N, McInnes BL, Ferrara TM, Lipman DM, Neves AB, Spitzmacher JAJ, Larson JR, Bellus GA, Pham AM, Aboujaoude E, Benke TA, Chatfield KC, Davis SM, Elias ER, Enzenauer RW, French BM, Pickler LL, Shieh JTC, Slavotinek A, Harrop AR, Innes AM, McCandless SE, McCourt EA, Meeks NJL, Tartaglia NR, Tsai AC, Wyse JPH, Bernstein JA, Sanchez-Lara PA, Forkert ND, Bernier FP, Spritz RA, Klein OD. Automated syndrome diagnosis by three-dimensional facial imaging. Genet Med. 2020 10; 22(10):1682-1693.
Score: 0.005
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Nabais S? MJ, El Tekle G, de Brouwer APM, Sawyer SL, Del Gaudio D, Parker MJ, Kanani F, van den Boogaard MH, van Gassen K, Van Allen MI, Wierenga K, Purcarin G, Elias ER, Begtrup A, Keller-Ramey J, Bernasocchi T, van de Wiel L, Gilissen C, Venselaar H, Pfundt R, Vissers LELM, Theurillat JP, de Vries BBA. De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders. Am J Hum Genet. 2020 03 05; 106(3):405-411.
Score: 0.005
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Wheeler PG, Sadeghi-Nejad A, Elias ER. The 3C syndrome: evolution of the phenotype and growth hormone deficiency. Am J Med Genet. 1999 Nov 05; 87(1):61-4.
Score: 0.005
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Shapira SK, Tian LH, Aylsworth AS, Elias ER, Hoover-Fong JE, Meeks NJL, Souders MC, Tsai AC, Zackai EH, Alexander AA, Yeargin-Allsopp M, Schieve LA. A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development. J Autism Dev Disord. 2019 May; 49(5):2184-2202.
Score: 0.005
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van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-W?dl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, L?pez-Gonz?lez V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med. 2019 06; 21(6):1295-1307.
Score: 0.004
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Eroglu Y, Nguyen-Driver M, Steiner RD, Merkens L, Merkens M, Roullet JB, Elias E, Sarphare G, Porter FD, Li C, Tierney E, Nowaczyk MJ, Freeman KA. Normal IQ is possible in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2017 Aug; 173(8):2097-2100.
Score: 0.004
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Elias ER, Irons MB, Hurley AD, Tint GS, Salen G. Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS) Am J Med Genet. 1997 Jan 31; 68(3):305-10.
Score: 0.004
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Rachubinski AL, Hepburn S, Elias ER, Gardiner K, Shaikh TH. The co-occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations? Prenat Diagn. 2017 Jan; 37(1):31-36.
Score: 0.004
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Salen G, Shefer S, Batta AK, Tint GS, Xu G, Honda A, Irons M, Elias ER. Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. J Lipid Res. 1996 Jun; 37(6):1169-80.
Score: 0.004
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Elias ER, Irons M. Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome. Curr Opin Pediatr. 1995 Dec; 7(6):710-4.
Score: 0.004
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Salen G, Tint GS, Xu G, Batta AK, Irons M, Elias ER. Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. Ital J Gastroenterol. 1995 Dec; 27(9):506-8.
Score: 0.004
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Adams RC, Elias ER. Nonoral feeding for children and youth with developmental or acquired disabilities. Pediatrics. 2014 Dec; 134(6):e1745-62.
Score: 0.003
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Elias ER, Sadeghi-Nejad A. Precocious puberty in girls with myelodysplasia. Pediatrics. 1994 Mar; 93(3):521-2.
Score: 0.003
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Liu W, Xu L, Lamberson CR, Merkens LS, Steiner RD, Elias ER, Haas D, Porter NA. Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients. J Lipid Res. 2013 Jan; 54(1):244-53.
Score: 0.003
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Stein MT, Elias ER, Saenz M, Pickler L, Reynolds A. Autistic spectrum disorder in a 9-year-old girl with macrocephaly. J Dev Behav Pediatr. 2010 Sep; 31(7):632-4.
Score: 0.002
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Garry D, Hansen RM, Moskowitz A, Elias ER, Irons M, Fulton AB. Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS). Doc Ophthalmol. 2010 Oct; 121(2):85-91.
Score: 0.002
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Berman S, Rannie M, Moore L, Elias E, Dryer LJ, Jones MD. Utilization and costs for children who have special health care needs and are enrolled in a hospital-based comprehensive primary care clinic. Pediatrics. 2005 Jun; 115(6):e637-42.
Score: 0.002
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Pauliks LB, Chan KC, Lorts A, Elias ER, Cayre RO, Valdes-Cruz LM. Shprintzen-Goldberg syndrome with tetralogy of fallot and subvalvar aortic stenosis. J Ultrasound Med. 2005 May; 24(5):703-6.
Score: 0.002
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Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, Dobyns W, Elias E, Gallagher R, Hordijk R, Hoyme G, Irons M, Jewett T, LeMerrer M, Lubinsky M, Martin R, McDonald-McGinn D, Neumann L, Newman W, Pauli R, Seaver L, Tsai A, Wargowsky D, Williams M, Zackai E. Toriello-Carey syndrome: delineation and review. Am J Med Genet A. 2003 Nov 15; 123A(1):84-90.
Score: 0.002
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Caruso PA, Poussaint TY, Tzika AA, Zurakowski D, Astrakas LG, Elias ER, Bay C, Irons MB. MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. Neuroradiology. 2004 Jan; 46(1):3-14.
Score: 0.002
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Yu H, Lee MH, Starck L, Elias ER, Irons M, Salen G, Patel SB, Tint GS. Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. Hum Mol Genet. 2000 May 22; 9(9):1385-91.
Score: 0.001
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Huang T, Elias ER, Mulliken JB, Kirse DJ, Holmes LB. A new syndrome: heart defects, laryngeal anomalies, preaxial polydactyly, and colonic aganglionosis in sibs. Genet Med. 1999 Mar-Apr; 1(3):104-8.
Score: 0.001
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Borer JG, Kaefer M, Barnewolt CE, Elias ER, Hobbs N, Retik AB, Peters CA. Renal findings on radiological followup of patients with Beckwith-Wiedemann syndrome. J Urol. 1999 Jan; 161(1):235-9.
Score: 0.001
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Tint GS, Abuelo D, Till M, Cordier MP, Batta AK, Shefer S, Honda A, Honda M, Xu G, Irons M, Elias ER, Salen G. Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols. Prenat Diagn. 1998 Jul; 18(7):651-8.
Score: 0.001
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Giampietro PF, Auerbach AD, Elias ER, Gutman A, Zellers NJ, Davis JG. New recessive syndrome characterized by increased chromosomal breakage and several findings which overlap with Fanconi anemia. Am J Med Genet. 1998 Jun 16; 78(1):70-5.
Score: 0.001
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Ming JE, McDonald-McGinn DM, Megerian TE, Driscoll DA, Elias ER, Russell BM, Irons M, Emanuel BS, Markowitz RI, Zackai EH. Skeletal anomalies and deformities in patients with deletions of 22q11. Am J Med Genet. 1997 Oct 17; 72(2):210-5.
Score: 0.001
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Irons M, Elias ER, Abuelo D, Bull MJ, Greene CL, Johnson VP, Keppen L, Schanen C, Tint GS, Salen G. Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. Am J Med Genet. 1997 Jan 31; 68(3):311-4.
Score: 0.001
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Tint GS, Batta AK, Xu G, Shefer S, Honda A, Irons M, Elias ER, Salen G. The Smith-Lemli-Opitz syndrome: a potentially fatal birth defect caused by a block in the last enzymatic step in cholesterol biosynthesis. Subcell Biochem. 1997; 28:117-44.
Score: 0.001
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Milunsky JM, Wyandt HE, Huang XL, Kang XZ, Elias ER, Milunsky A. Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant. Am J Med Genet. 1996 Jan 22; 61(3):269-73.
Score: 0.001
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Theodoropoulos DS, Cowan JM, Elias ER, Cole C. Physical findings in 21q22 deletion suggest critical region for 21q- phenotype in q22. Am J Med Genet. 1995 Nov 06; 59(2):161-3.
Score: 0.001
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Shefer S, Salen G, Batta AK, Honda A, Tint GS, Irons M, Elias ER, Chen TC, Holick MF. Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. J Clin Invest. 1995 Oct; 96(4):1779-85.
Score: 0.001
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Tint GS, Salen G, Batta AK, Shefer S, Irons M, Elias ER, Abuelo DN, Johnson VP, Lambert M, Lutz R, et al. Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. J Pediatr. 1995 Jul; 127(1):82-7.
Score: 0.001
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Irons M, Elias ER, Tint GS, Salen G, Frieden R, Buie TM, Ampola M. Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient. Am J Med Genet. 1994 May 01; 50(4):347-52.
Score: 0.001
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Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, Salen G. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med. 1994 Jan 13; 330(2):107-13.
Score: 0.001
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Irons M, Elias ER, Salen G, Tint GS, Batta AK. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet. 1993 May 29; 341(8857):1414.
Score: 0.001
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Connection Strength
The connection strength for concepts is the sum of the scores for each matching publication.
Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.
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