Children's Health Research Institute

Publications

Interference in an unconjugated estriol assay causing a false negative integrated prenatal screening report.  Dennis AW, Siu VM, Campagnolo C, Soldin SJ   Prenat Diagn. 2010 Feb;30(2):165-7.

A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.  Lahiry P, Wang J, Robinson JF, Turowec JP, Litchfield DW, Lanktree MB, Gloor GB, Puffenberger EG, Strauss KA, Martens MB, Ramsay DA, Rupar CA, Siu V, Hegele RA.  Am J Hum Genet. 2009 Feb;84(2):134-47.

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea
Heinz-Erian P, Müller T, Krabichler B, Schranz M, Becker C, Rüschendorf F, Nürnberg P, Rossier B, Vujic M, Booth IW, Holmberg C, Wijmenga C, Grigelioniene G, Kneepkens CM, Rosipal S, Mistrik M, Kappler M, Michaud L, Dóczy LC, Siu VM, Krantz M, Zoller H, Utermann G, Janecke AR.
Am J Hum Genet. 2009 Feb;84(2):188-96

Unusual 8p inverted duplication deletion with telomere capture from 8q
Buysse K, Antonacci F, Callewaert B, Loeys B, Fränkel U, Siu V, Mortier G, Speleman F, Menten B
Eur J Med Genet. 2009 Jan-Feb;52(1):31-6

Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy
Korngut L, Siu VM, Venance SL, Levin S, Ray P, Lemmers RJ, Keith J, Campbell C
Neuromuscul Disord. 2008 Jul;18(7):579-82

False-positive prenatal diagnosis of trisomy 18 by interphase FISH: hybridization of chromosome 18 alpha-satellite DNA probe (D18Z1) to the heterochromatic region of chromosome 9
Wei S, Siu VM, Decker A, Quigg MH, Roberson J, Xu J, Adeyinka A.  Prenat Diagn. 2007 Nov;27(11):1064-6.

Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5.  Puffenberger EG, Strauss KA, Ramsey KE, Craig DW, Stephan DA, Robinson DL, Hendrickson CL, Gottlieb S, Ramsay DA, Siu VM, Heuer GG, Crino PB, Morton DH.
Brain. 2007 Jul;130(Pt 7):1929-41

Additional publications