Peter B. Jacky

Education Northwest — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

12h-index846citations35works0.02yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(15), Genetics and Neurodevelopmental Disorders(12), Autism Spectrum Disorder Research(6), Prenatal Screening and Diagnostics(6), Epigenetics and DNA Methylation(4)

Publications34 total

Guidance for Fluorescence in Situ Hybridization Testing in Hematologic Disorders
UNC Libraries·2020Open Access
Morbidity risk of chromosomal breakpoints in topological domains enriched in non-exonic conserved elements
University of Southern Denmark Research Portal (University of Southern Denmark)·2019Open Access
16. The evolutionary conserved developmental regulome define high risk regions for long range position effects
Cancer Genetics·2018· 1 cited
NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers
UNESP Institutional Repository (São Paulo State University)·2017Open Access
Systematic Mapping of Chromosomal Breakpoints in the Context of Phenotypes and Nuclear Genome Organization
Cancer Genetics·2016
International Breakpoint Mapping Consortium (IBMC). Systematic Mapping of Chromosomal Breakpoints in the Context of Phenotypes and Nuclear Genome Organization
Cancer Genetics·2015· 1 cited
43rd Biennial American Cytogenetics Conference. May 4-7, 2014. The Omni Grove Park Inn. Asheville, North Carolina, USA: Abstracts
Cytogenetic and Genome Research·2014· 5 citedOpen Access
Fragile X chromosome associated with familial sex-linked mental retardation : expression in fibroblast culture
Open Collections·2010· 1 citedOpen Access
Section E6.5 of the ACMG technical standards and guidelines: Chromosome studies for solid tumor abnormalities
Genetics in Medicine·2009· 6 citedOpen Access
Guidance for Fluorescence in Situ Hybridization Testing in Hematologic Disorders
Journal of Molecular Diagnostics·2007· 148 citedOpen Access
Section E6 of the ACMG technical standards and guidelines: Chromosome studies for acquired abnormalitie: This updated Section E6 has been incorporated into Section E: Clinical Cytogenetics of the 2005 ACMG Standards and Guidelines for Clinical Genetics Laboratories and supersedes the previous section E6
Genetics in Medicine·2005· 3 citedOpen Access
Technical Standards and Guidelines for Fragile X: The First of a Series of Disease-Specific Supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics
Genetics in Medicine·2001· 230 citedOpen Access
The Chromosome Constitutions of a Hybrid Salmonid and Its Parental Types: Salmo Gairdneri and Salmo Clarki
2000Open Access
Hypomethylation of an Expanded FMR1 Allele Is Not Associated with a Global DNA Methylation Defect
The American Journal of Human Genetics·1999· 20 citedOpen Access
Fully Expanded FMR1CGG Repeats Exhibit a Length-and Differentiation-Dependent Instability in Cell Hybrids That is Independent of DNA Methylation
Human Molecular Genetics·1999· 36 citedOpen Access
Clinical outcomes of four patients with microdeletion in the long arm of chromosome 2
American Journal of Medical Genetics·1998· 25 cited
Clinical outcomes of four patients with microdeletion in the long arm of chromosome 2
American Journal of Medical Genetics·1998· 6 cited
Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation.
Journal of Medical Genetics·1993· 92 citedOpen Access
Author Index Vol. 63, 1993
Cytogenetic and Genome Research·1993Open Access
Title Page / Table of Contents / Abstracts of Presentations at the 31 st Annual American Cytogenetic Conference
Cytogenetic and Genome Research·1993· 1 cited
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Frequent Co-authors

Iben Bache(6), Mads Bak(6), Niels Tommerup(6), David J. Prieur(5), James T. Mascarello(5), Debra Saxe(5), Mana M. Mehrjouy(5), Arthur R. Brothman(4), Betsy Hirsch(4), Daynna J. Wolff(4), Kathleen W. Rao(4), Grant R. Sutherland(4), Malene Bøgehus Rasmussen(4), Linda A. Cannizzaro(4), Susanne M. Gollin(4), Patricia N. Howard‐Peebles(4), Urvashi Surti(4), Christina Halgren(4), Bradley W. Popovich(3), Linda D. Cooley(3)