List of works - Sung-Hae L Kang

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

scientific article

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

scientific article published on January 2009

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

scientific article published on 22 May 2013

Detection of clinically relevant exonic copy-number changes by array CGH.

scientific article

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy

scientific article (publication date: 2013)

Identification of novel candidate disease genes from de novo exonic copy number variants.

scientific article published on 21 September 2017

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results

scientific article published in May 2010

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits

scientific article published on 08 May 2013

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

scientific article

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

scientific article

Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation

scientific article published on 01 December 2007

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

scientific article published on 29 August 2012

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

scientific article (publication date: 12 November 2009)

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

scientific article

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

scientific article published on 26 June 2009

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

scientific article

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases

scientific article

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

scientific article published in July 2007

List of works by Sung-Hae L Kang

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

Detection of clinically relevant exonic copy-number changes by array CGH.

Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy

Identification of novel candidate disease genes from de novo exonic copy number variants.

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region