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Page 1
Healthcare access, satisfaction, and health-related quality of life among children and adults with rare diseases.
Orphanet J Rare Dis. 2022 May 12;17(1):196. doi: 10.1186/s13023-022-02343-4.
Orphanet J Rare Dis. 2022.
PMID: 35549731
Free PMC article.
Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis.
Powis Z, Farwell Hagman KD, Speare V, Cain T, Blanco K, Mowlavi LS, Mayerhofer EM, Tilstra D, Vedder T, Hunter JM, Tsang M, Gonzalez L, Vockley G, Tang S.
Powis Z, et al. Among authors: tilstra d.
Genet Med. 2018 Nov;20(11):1468-1471. doi: 10.1038/gim.2018.11. Epub 2018 Mar 22.
Genet Med. 2018.
PMID: 29565416
Free article.
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Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.
Martens K, Heulens I, Meulemans S, Zaffanello M, Tilstra D, Hes FJ, Rooman R, François I, de Zegher F, Jaeken J, Matthijs G, Creemers JW.
Martens K, et al. Among authors: tilstra d.
Eur J Hum Genet. 2007 Oct;15(10):1029-33. doi: 10.1038/sj.ejhg.5201881. Epub 2007 Jun 20.
Eur J Hum Genet. 2007.
PMID: 17579669
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Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG.
Johnston JJ, et al. Among authors: tilstra d.
Hum Mutat. 2010 Oct;31(10):1142-54. doi: 10.1002/humu.21328.
Hum Mutat. 2010.
PMID: 20672375
Free PMC article.
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Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG.
Johnston JJ, et al. Among authors: tilstra d.
Am J Hum Genet. 2005 Apr;76(4):609-22. doi: 10.1086/429346. Epub 2005 Feb 28.
Am J Hum Genet. 2005.
PMID: 15739154
Free PMC article.
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