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List of works by Cynthia Morton

3C-PCR: a novel proximity ligation-based approach to phase chromosomal rearrangement breakpoints with distal allelic variants.

scientific article

A multi-stage genome-wide association study of uterine fibroids in African Americans

scientific article

A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children

scientific article published on 07 June 2019

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

scientific article published in 2021

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

scientific article

Assignment of C1QBP encoding the C1q globular domain binding protein (gC1q-R) to human chromosome 17 band p13.3 by in situ hybridization ⬇️

scientific article published on January 1, 1997

Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3 ⬇️

scientific article published on May 29, 1998

Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation

scientific article published in September 2005

Candidate loci for Zimmermann-Laband syndrome at 3p14.3.

scientific article published on 01 January 2007

Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project

scientific article published on 5 September 2008

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project

scientific article published on March 2008

Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice ⬇️

scientific article published on August 1, 1997

Clinical diagnosis by whole-genome sequencing of a prenatal sample

scientific article

Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction

scientific article published on 15 February 2006

Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics

scientific article published on 17 November 2016

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

scientific article

Construction of P1-Derived Artificial Chromosome and Yeast Artificial Chromosome Contigs Encompassing the DFNB7 andDFNB11 Region of Chromosome 9q13–21 ⬇️

scientific article published on September 1, 1997

Cytogenetic abnormalities in uterine myomas are associated with myoma size ⬇️

scientific article published on January 1, 1998

Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities

scientific article

Disruption of neurexin 1 associated with autism spectrum disorder

scientific article

Erratum to: A multi-stage genome-wide association study of uterine fibroids in African Americans

scientific article published on 4 October 2017

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

scientific article published on 17 January 2013

Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis

scientific article published on 24 October 2019

Genomic alterations in myeloid neoplasms with novel, apparently balanced translocations ⬇️

scientific article published on February 1, 2011

Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity

scientific article published on December 2012

Identification of PKDL, a Novel Polycystic Kidney Disease 2-Like Gene Whose Murine Homologue Is Deleted in Mice with Kidney and Retinal Defects ⬇️

scientific article published on October 2, 1998

Implication of LRRC4C and DPP6 in neurodevelopmental disorders

scientific article published on 19 October 2016

Inner Ridge Cells may be the Main Source of Tectorial Membrane Type II Collagen: Evidence from Quantitative mRNAIn SituHybridization ⬇️

scientific article published on March 1, 1998

Mapping and Characterization of a Novel Cochlear Gene in Human and in Mouse: A Positional Candidate Gene for a Deafness Disorder, DFNA9 ⬇️

scientific article published on December 15, 1997

Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction ⬇️

scientific article published on November 1, 1998

ORC5L, a New Member of the Human Origin Recognition Complex, Is Deleted in Uterine Leiomyomas and Malignant Myeloid Diseases ⬇️

scientific article published on October 16, 1998

Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin

scientific article published on 10 January 2018

Recommendations for the integration of genomics into clinical practice

scientific article published on 12 May 2016

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

scientific article

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

scientific article published on 19 April 2012

Sounding out a novel sulphate transporter ⬇️

scientific article published on December 1, 1997

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis

scientific article published on 13 October 2016

The Burden and Benefits of Knowledge: Ethical Considerations Surrounding Population-Based Newborn Genome Screening for Hearing

scientific article published in 2022

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

scientific article

The human ortholog of rhesus mannose-binding protein-A gene is an expressed pseudogene that localizes to Chromosome 10 ⬇️

scientific article (publication date: March 1998)

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

scientific article

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