Carrie Hanscom

Biochemistry, Genetics and Molecular Biology · Life Sciences

18h-index3.0kcitations26works0.02yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(13), Genomics and Rare Diseases(7), Chromosomal and Genetic Variations(6), Genetics and Neurodevelopmental Disorders(6), Congenital heart defects research(4)

Publications26 total

Implication of LRRC4C and DPP6 in neurodevelopmental disorders
UNC Libraries·2020· 3 citedOpen Access
SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility
The American Journal of Human Genetics·2019· 96 citedOpen Access
<i>SYCP2</i> translocation-mediated dysregulation and frameshift variants cause human male infertility
2019· 3 citedOpen Access
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly
Cell·2018· 223 citedOpen Access
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly
SSRN Electronic Journal·2018· 1 citedOpen Access
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly
2017· 3 citedOpen Access
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome
Genome biology·2017· 229 citedOpen Access
Potential molecular consequences of transgene integration: The R6/2 mouse example
Scientific Reports·2017· 16 citedOpen Access
Cover Image, Volume 173A, Number 2, February 2017
American Journal of Medical Genetics Part A·2017
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Nature Genetics·2016· 346 citedOpen Access
Implication of <i>LRRC4C</i> and <i>DPP6</i> in neurodevelopmental disorders
American Journal of Medical Genetics Part A·2016· 49 citedOpen Access
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis
The American Journal of Human Genetics·2016· 95 citedOpen Access
Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay
European Journal of Human Genetics·2016· 14 citedOpen Access
Genomic landscape of balanced cytogenetic abnormalities in subjects with multiple congenital anomalies
Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)·2016Open Access
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation
The American Journal of Human Genetics·2015· 84 citedOpen Access
Cryptic and Complex Chromosomal Aberrations in Early-Onset Neuropsychiatric Disorders
The American Journal of Human Genetics·2014· 46 citedOpen Access
Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole‐genome sequencing
Prenatal Diagnosis·2014· 37 citedOpen Access
Design of Large‐Insert Jumping Libraries for Structural Variant Detection Using Illumina Sequencing
Current Protocols in Human Genetics·2014· 31 citedOpen Access
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities
Molecular Psychiatry·2013· 66 citedOpen Access
Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate
Human Genetics·2013· 73 citedOpen Access
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Frequent Co-authors

Michael E. Talkowski(25), James F. Gusella(17), Cynthia C. Morton(16), Ryan L. Collins(13), Ian Blumenthal(11), Colby Chiang(11), Vamsee Pillalamarri(9), Carl Ernst(9), Harrison Brand(9), Jill A. Rosenfeld(9), Lisa G. Shaffer(7), Zehra Ordulu(7), Amelia M. Lindgren(6), Tammy Kammin(6), Caroline Antolik(6), Benjamin Currall(6), Shahrin Pereira(5), Yiping Shen(5), Diane Lucente(4), Claire Redin(4)