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Author Details

Cynthia C Morton
1981
348
84
PMIDPaper TitleJournal TitlePublished Year
36526900Mate-pair genome sequencing reveals structural variants for idiopathic male infertility.2023
37563198A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.2023
37625567Balanced chromosomal rearrangements implicate YIPF5 and SPATC1L in non-obstructive oligoasthenozoospermia and oligozoospermia and of a derivative chromosome 22 in recurrent miscarriage.2023
36637808A Comparative Analysis of Health-Related Quality of Life 1 Year Following Myomectomy or Uterine Artery Embolization: Findings from the COMPARE-UF Registry.J Womens Health (Larchmt)2023
37244458Long-term health-related quality of life and symptom severity following hysterectomy, myomectomy, or uterine artery embolization for the treatment of symptomatic uterine fibroids.Am J Obstet Gynecol2023
37034680A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.Res Sq2023
34582045Tools for standardized data collection: Speech, Language, and Hearing measurement protocols in the PhenX Toolkit.Ann Hum Genet2022
36160024Editorial: Chromosome structural variants: Epidemiology, identification and contribution to human diseases.Frontiers in Genetics2022
35626254Experience of Low-Pass Whole-Genome Sequencing-Based Copy Number Variant Analysis: A Survey of Chinese Tertiary Hospitals.Diagnostics2022
35803233Investigating the shared genetic architecture of uterine leiomyoma and breast cancer: A genome-wide cross-trait analysis.Am J Hum Genet2022
35735787The Burden and Benefits of Knowledge: Ethical Considerations Surrounding Population-Based Newborn Genome Screening for Hearing.Int J Neonatal Screen2022
34774226Genetics of Childhood Hearing Loss.Otolaryngologic Clinics of North America2021
34228749Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.PLoS ONE2021
34108864Cochlin Deficiency Protects Against Noise-Induced Hearing Loss.Frontiers in Molecular Neuroscience2021
33667392ASHG 2020 Curt Stern Award introduction: Fowzan Sami Alkuraya.American Journal of Human Genetics2021
33772221Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics.Genetics in Medicine2021
33398081A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.Eur J Hum Genet2021
31447483Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis.Genetics in Medicine2020
32369452Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development.Journal of Clinical Investigation2020
31866047SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility.American Journal of Human Genetics2020
31659300Generation of protective pneumococcal-specific nasal resident memory CD4 T cells via parenteral immunization.Mucosal Immunology2020
32030560Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape.Human Genetics2020
33369263Resolving Breakpoints of Chromosomal Rearrangements at the Nucleotide Level Using Sanger Sequencing.Current Protocols in Human Genetics2020
31493294First Report of Bilateral External Auditory Canal Cochlin Aggregates ("Cochlinomas") with Multifocal Amyloid-Like Deposits, Associated with Sensorineural Hearing Loss and a Novel Genetic Variant in COCH Encoding Cochlin.Head Neck Pathol2020
30951674The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders.American Journal of Human Genetics2019
31679651Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage.Am J Hum Genet2019
31621509Diagnosing and Preventing Hearing Loss in the Genomic Age.Trends Hear2019
31564438Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China.American Journal of Human Genetics2019
31564434GWAS Identifies 44 Independent Associated Genomic Loci for Self-Reported Adult Hearing Difficulty in UK Biobank.American Journal of Human Genetics2019
31227837Gene therapy for hearing loss.Human Molecular Genetics2019
31222336Corrigendum: Loss of LDAH associated with prostate cancer and hearing loss.Hum Mol Genet2019
29785389Pelvic and pulmonary benign metastasizing leiomyoma: A case report.Case Reports in Women's Health2018
30169630Loss of LDAH associated with prostate cancer and hearing loss.Hum Mol Genet2018
29915380Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genet Med2018
29956287Historical and Clinical Perspectives on Chromosomal Translocations.Advances in Experimental Medicine and Biology2018
30038699Computational Prediction of Position Effects of Human Chromosome Rearrangements.Current Protocols in Human Genetics2018
29937438Target-enriched massively parallel sequencing for genetic diagnosis of hereditary hearing loss in patients with normal array CGH result.Hong Kong Medical Journal2018
29095815Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics.Genet Med2018
29666002Clinical, pathologic, cytogenetic, and molecular profiling in self-identified black women with uterine leiomyomata.Cancer genetics2018
29364520Balanced Chromosomal Rearrangement Detection by Low-Pass Whole-Genome Sequencing.Curr Protoc Hum Genet2018
29321672Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin.European Journal of Human Genetics2018
291967993C-PCR: a novel proximity ligation-based approach to phase chromosomal rearrangement breakpoints with distal allelic variants.Human Genetics2018
27841880The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.Nat Genet2017
28735859Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.Am J Hum Genet2017
28546579Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.Nat Genet2017
28975356Erratum to: A multi-stage genome-wide association study of uterine fibroids in African Americans.Hum Genet2017
28836065A multi-stage genome-wide association study of uterine fibroids in African Americans.Hum Genet2017
29593997Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids.Case Reports in Women's Health2017
28273078Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach.PLoS ONE2017
27854359Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics.Genet Med2017
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