Mosaic inv dup(8p) marker chromosome with stable neocentromere suggests neocentromerization is a post-zygotic eventVOULLAIRE, Lucille; SAFFERY, Richard; EARLE, Elizabeth et al.American journal of medical genetics. 2001, Vol 102, Num 1, pp 86-94, issn 0148-7299Article

Linking the FMR1 Alleles With Small CGG Expansions With Neurodevelopmental Disorders: Preliminary Data Suggest an Involvement of Epigenetic MechanismsLOESCH, Danuta Z; GODLER, David E; CHOO, Kh Andy et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 10, pp 2306-2310, issn 1552-4825, 5 p.Article

Karyotype, phenotype and parental origin in 19 cases of triploidyDANIEL, Art; ZHANHE WU; LOO, Christine et al.Prenatal diagnosis. 2001, Vol 21, Num 12, pp 1034-1048, issn 0197-3851Article

Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndromeKANNU, Peter; OEI, Paul; SLATER, Howard R et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 18, pp 1955-1959, issn 1552-4825, 5 p.Article

A case of maternal uniparental disomy of chromosome 9 diagnosed prenatally and the related problem of residual trisomySLATER, Howard R; RALPH, Adrianne; DANIEL, Art et al.Prenatal diagnosis. 2000, Vol 20, Num 11, pp 930-932, issn 0197-3851Article

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairmentYEUNG, Alison; BRUNO, Damien; SCHEFFER, Ingrid E et al.European journal of medical genetics. 2009, Vol 52, Num 6, pp 440-442, issn 1769-7212, 3 p.Article

Prenatal detection of deletion-duplication of chromosome 3 arising from meiotic recombination of a familial pericentric inversionPRABHAKARA, K; BRUNO, Damien L; PADMAN, Priya et al.Prenatal diagnosis. 2008, Vol 28, Num 5, pp 466-468, issn 0197-3851, 3 p.Article

A patient with monosomy lp36, atypical features and phenotypic similarities with cantu syndromeTIONG YANG TAN; BANKIER, Agnes; SLATER, Howard R et al.American journal of medical genetics. 2005, Vol 139A, Num 3, pp 216-220, issn 0148-7299, 5 p.Article

Molecular distinction between true centric fission and pericentric duplication-fissionPERRY, Jo; NOURI, Sara; PHUNG LA et al.Human genetics. 2005, Vol 116, Num 4, pp 300-310, issn 0340-6717, 11 p.Article

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratioEUGENY GODLER, David; TASSONE, Flora; EVANS, Andrew et al.Human molecular genetics (Print). 2010, Vol 19, Num 8, pp 1618-1632, issn 0964-6906, 15 p.Article

Development of a Multiplex LigationDependent Probe Amplification Assay for Diagnosis and Estimation of the Frequency of Spinocerebellar Ataxia Type 15GANESAMOORTHY, Devika; BRUNO, Damien L; SCHOUMANS, Jacqueline et al.Clinical chemistry (Baltimore, Md.). 2009, Vol 55, Num 7, pp 1415-1418, issn 0009-9147, 4 p.Article

High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidyBRUNO, Damien L; BURGESS, Trent; SLATER, Howard R et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 24, pp 2786-2793, issn 1552-4825, 8 p.Article

High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPsSLATER, Howard R; BAILEY, Dione K; HUA REN et al.American journal of human genetics. 2005, Vol 77, Num 5, pp 709-726, issn 0002-9297, 18 p.Article

Unstable robertsonian translocations der(13;15)(q10;q10) : Heritable chromosome fission without phenotypic effect in two kindredsPERRY, Jo; WHITE, Sue M; THOMPSON, Elizabeth M et al.American journal of medical genetics. 2005, Vol 136A, Num 1, pp 25-30, issn 0148-7299, 6 p.Article

Fragile X Mental Retardation 1 (FMR1) Intron 1 Methylation in Blood Predicts Verbal Cognitive Impairment in Female Carriers of Expanded FMR1 Alleles: Evidence from a Pilot StudyGODLER, David E; SLATER, Howard R; AMOR, David J et al.Clinical chemistry (Baltimore, Md.). 2012, Vol 58, Num 3, pp 590-598, issn 0009-9147, 9 p.Article

Phenotypic Variability of Distal 22q11.2 Copy Number AbnormalitiesTIONG YANG TAN; COLLINS, Amanda; GANESAMOORTHY, Devika et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 7, pp 1623-1633, issn 1552-4825, 11 p.Article

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypesBRUNO, Damien L; ANDERLID, Britt-Marie; KOOY, R. Frank et al.Journal of medical genetics. 2010, Vol 47, Num 5, pp 299-311, issn 0022-2593, 13 p.Article