 Connection
Scott Demarest to Phenotype
This is a "connection" page, showing publications Scott Demarest has written about Phenotype.
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Connection Strength |
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0.414 |
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Abbott M, Angione K, Stringfellow M, Malik K, Saenz M, Miele A, Syverson K, Maniar B, Borello J, Chaby L, Demarest S. Evaluation of epilepsy in 8p-related disorders. Epilepsy Res. 2026 Feb; 220:107720.
Score: 0.131
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Demarest S, Calhoun J, Eschbach K, Yu HC, Mirsky D, Angione K, Shaikh TH, Carvill GL, Benke TA. Whole-exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms. Dev Med Child Neurol. 2022 05; 64(5):633-640.
Score: 0.099
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Demarest ST, Whitehead MT, Turnacioglu S, Pearl PL, Gropman AL. Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation. J Child Neurol. 2014 Sep; 29(9):1249-56.
Score: 0.059
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Santucci K, Malik KE, Angione K, Bennink D, Gerk A, Mancini D, Stringfellow M, Dinkel T, Demarest S, Miele AS, Saenz M. Chromosome 8p Syndromes Clinical Presentation and Management Guidelines. Clin Genet. 2025 Feb; 107(2):169-178.
Score: 0.030
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Haviland I, Hector RD, Swanson LC, Verran AS, Sherrill E, Frazier Z, Denny AM, Lucash J, Zhang B, Dubbs HA, Marsh ED, Weisenberg JL, Leonard H, Crippa M, Cogliati F, Russo S, Suter B, Rajaraman R, Percy AK, Schreiber JM, Demarest S, Benke TA, Chopra M, Yu TW, Olson HE. Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder. Am J Med Genet A. 2025 Jan; 197(1):e63843.
Score: 0.030
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MacKay CI, Wong K, Demarest ST, Benke TA, Downs J, Leonard H. Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset. Clin Genet. 2021 01; 99(1):157-165.
Score: 0.023
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Arystarkhova E, Haq IU, Luebbert T, Mochel F, Saunders-Pullman R, Bressman SB, Feschenko P, Salazar C, Cook JF, Demarest S, Brashear A, Ozelius LJ, Sweadner KJ. Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition. Neurobiol Dis. 2019 12; 132:104577.
Score: 0.021
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Johnstone DL, Al-Shekaili HH, Tarailo-Graovac M, Wolf NI, Ivy AS, Demarest S, Roussel Y, Ciapaite J, van Roermund CWT, Kernohan KD, Kosuta C, Ban K, Ito Y, McBride S, Al-Thihli K, Abdelrahim RA, Koul R, Al Futaisi A, Haaxma CA, Olson H, Sigurdardottir LY, Arnold GL, Gerkes EH, Boon M, Heiner-Fokkema MR, Noble S, Bosma M, Jans J, Koolen DA, Kamsteeg EJ, Drögemöller B, Ross CJ, Majewski J, Cho MT, Begtrup A, Wasserman WW, Bui T, Brimble E, Violante S, Houten SM, Wevers RA, van Faassen M, Kema IP, Lepage N, Lines MA, Dyment DA, Wanders RJA, Verhoeven-Duif N, Ekker M, Boycott KM, Friedman JM, Pena IA, van Karnebeek CDM. PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights. Brain. 2019 03 01; 142(3):542-559.
Score: 0.020
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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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