H. Whitby

发表

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

Swaroop Aradhya, Michael R Rossi, Vineith Kaul, 2011, Genetics in Medicine.

Benign copy number changes in clinical cytogenetic diagnostics by array CGH

A. Tsalenko, L. Bruhn, P. Tsang, 2009, Cytogenetic and Genome Research.

Expansion in size of a terminal deletion: a paradigm shift for parental follow-up studies

S. South, A. Rope, A. Brothman, 2008, Journal of Medical Genetics.

Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation

S. South, C. Curry, A. Brothman, 2007, American journal of medical genetics. Part A.

An evidence-based approach to establish the functional and clinical significance of CNVs in intellectual and developmental disabilities

Gabriele, D. Church, W. Sanger, 2022 .

Homozygous deletions of a copy number change detected by array CGH: A new cause for mental retardation?

S. South, C. Curry, A. Brothman, 2008, American journal of medical genetics. Part A.

Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available array based comparative genomic hybridisation (aCGH) microarray platform

S. South, A. Brothman, E. Aston, 2008, Journal of Medical Genetics.

Co‐occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: Modification of the Wolf–Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith–Wiedemann or Russell–Silver phenotype

S. South, J. Carey, A. Brothman, 2008, American journal of medical genetics. Part A.

Comparison of Targeted and Whole Genome Analysis of Postnatal Specimens Using a Commercially Available aCGH Microarray Platform Comparison of Targeted and Whole Genome aCGH

Arthur R. Brothman, S. South, A. Brothman, 2008 .

Comprehensive analysis of Wolf–Hirschhorn syndrome using array CGH indicates a high prevalence of translocations

A. Battaglia, S. South, J. Carey, 2008, European Journal of Human Genetics.