Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.

Autor: Ho KS; Lineagen, Inc., Salt Lake City, Utah, USA., South ST; ARUP Laboratories, Salt Lake City, Utah, USA Department of Pathology, University of Utah, Salt Lake City, Utah, USA., Lortz A; 4p- Support Group, Sunbury, Ohio, USA., Hensel CH; Lineagen, Inc., Salt Lake City, Utah, USA., Sdano MR; Lineagen, Inc., Salt Lake City, Utah, USA., Vanzo RJ; Lineagen, Inc., Salt Lake City, Utah, USA., Martin MM; Lineagen, Inc., Salt Lake City, Utah, USA., Peiffer A; Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA., Lambert CG; Department of Internal Medicine, University of New Mexico, Albuquerque, New Mexico, USA., Calhoun A; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA., Carey JC; Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA., Battaglia A; Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Pisa, Italy.

Publikováno v: Journal of medical genetics [J Med Genet] 2016 Apr; Vol. 53 (4), pp. 256-63. Date of Electronic Publication: 2016 Jan 08.

Public health genetic counselors: activities, skills, and sources of learning.

Autor: McWalter KM; Genetics Program, Hawaii Department of Health, HI 741 Sunset Avenue, Honolulu, HI, 96816, USA, kirsty@hawaiigenetics.org., Sdano MR, Dave G, Powell KP, Callanan N

Publikováno v: Journal of genetic counseling [J Genet Couns] 2015 Jun; Vol. 24 (3), pp. 438-51. Date of Electronic Publication: 2014 Dec 05.

Correspondence regarding SNX8 haploinsufficiency and its potential for cardiac anomalies including tetralogy of Fallot.

Autor: Vanzo RJ; Lineagen-Genetic Counseling, Salt Lake City, Utah., Martin MM, Sdano MR, Teta K, South ST

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2014 Aug; Vol. 164A (8), pp. 2136-7. Date of Electronic Publication: 2014 Apr 14.

Familial KANK1 deletion that does not follow expected imprinting pattern.

Autor: Vanzo RJ; Lineagen, Inc., 423 Wakara Way, Ste 200, Salt Lake City, UT 84108, United States. rvanzo@lineagen.com, Martin MM, Sdano MR, South ST

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2013 May; Vol. 56 (5), pp. 256-9. Date of Electronic Publication: 2013 Feb 27.