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Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.
Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, Butler MG, Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, Crandall B, Lauzon JL, Viskochil DH, Harding B, Graham JM Jr. Conway RL, et al. Among authors: viskochil dh. Am J Med Genet A. 2007 Dec 15;143A(24):2981-3008. doi: 10.1002/ajmg.a.32040. Am J Med Genet A. 2007. PMID: 18000912 Free PMC article.
Status of the human malformation map: 2007.
Carey JC, Viskochil DH. Carey JC, et al. Among authors: viskochil dh. Am J Med Genet A. 2007 Dec 15;143A(24):2868-85. doi: 10.1002/ajmg.a.32103. Am J Med Genet A. 2007. PMID: 18000914
Brain anomalies in encephalocraniocutaneous lipomatosis.
Moog U, Jones MC, Viskochil DH, Verloes A, Van Allen MI, Dobyns WB. Moog U, et al. Among authors: viskochil dh. Am J Med Genet A. 2007 Dec 15;143A(24):2963-72. doi: 10.1002/ajmg.a.32074. Am J Med Genet A. 2007. PMID: 18000987
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY, Gordon CT. Mak CCY, et al. Brain. 2020 Jan 1;143(1):55-68. doi: 10.1093/brain/awz379. Brain. 2020. PMID: 31834374 Free PMC article.
Personal journeys to and in human genetics and dysmorphology.
Schwartz CE, Aylsworth AS, Allanson J, Battaglia A, Carey JC, Curry CJ, Davies KE, Eichler EE, Graham JM Jr, Hall B, Hall JG, Holmes LB, Hoyme HE, Hunter A, Innis J, Johnson J, Keppler-Noreuil KM, Leroy JG, Moore C, Nelson DL, Neri G, Opitz JM, Picketts D, Raymond FL, Shalev SA, Stevenson RE, Stumpel CTRM, Sutherland G, Viskochil DH, Weaver DD, Zackai EH. Schwartz CE, et al. Among authors: viskochil dh. Am J Med Genet A. 2024 Jun;194(6):e63514. doi: 10.1002/ajmg.a.63514. Epub 2024 Feb 8. Am J Med Genet A. 2024. PMID: 38329159
Sudden death in Williams syndrome: report of ten cases.
Bird LM, Billman GF, Lacro RV, Spicer RL, Jariwala LK, Hoyme HE, Zamora-Salinas R, Morris C, Viskochil D, Frikke MJ, Jones MC. Bird LM, et al. J Pediatr. 1996 Dec;129(6):926-31. doi: 10.1016/s0022-3476(96)70042-2. J Pediatr. 1996. PMID: 8969740 Review.
Polytopic anomalies with agenesis of the lower vertebral column.
Bohring A, Lewin SO, Reynolds JF, Voigtländer T, Rittinger O, Carey JC, Köpernik M, Smith R, Zackai EH, Leonard NJ, Gritter HL, Bamforth JS, Okun N, McLeod DR, Super M, Powell P, Mundlos S, Hennekam RC, van Langen IM, Viskochil DH, Wiedemann HR, Opitz JM. Bohring A, et al. Among authors: viskochil dh. Am J Med Genet. 1999 Nov 19;87(2):99-114. Am J Med Genet. 1999. PMID: 10533024 Review.
224 results