Publications by authors named "Sarah Noon"

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A Study of Universal Severe Acute Respiratory Syndrome Coronavirus 2 RNA Testing Among Residents and Staff in a Large Group of Care Homes in South London.
Agnes Marossy, Stefan Rakowicz, Angela Bhan, Sarah Noon, Amanda Rees

J Infect Dis· February 2021

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Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.
Maria Helgeson, Jennifer Keller-Ramey, Amy Knight Johnson, Jennifer A Lee, Daniel B Magner, Sarah Noon

J Hum Genet· March 2018

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Phenotypes and genotypes in individuals with SMC1A variants.
Sylvia Huisman, Paul A Mulder, Egbert Redeker, Ingrid Bader, Anne-Marie Bisgaard, Sarah E Noon

Am J Med Genet A· August 2017

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Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.
Antonie D Kline, Ian D Krantz, Matthew A Deardorff, Katsuhiko Shirahige, Dale Dorsett, Sarah Noon

Am J Med Genet A· May 2017

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A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay.
Emily Schwartz, Alisha Wilkens, Sarah E Noon, Ian D Krantz, Yaning Wu

Am J Med Genet A· March 2017

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CDH23 Related Hearing Loss: A New Genetic Risk Factor for Semicircular Canal Dehiscence?
Kathryn Y Noonan, Jack Russo, Jun Shen, Heidi Rehm, Sara Halbach, Sarah Noon

Otol Neurotol· December 2016

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Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic.
Devanshi Mehta, Sarah E Noon, Emily Schwartz, Alisha Wilkens, Emma C Bedoukian

Am J Med Genet A· October 2016

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A de novo interstitial deletion of 7q31.2q31.31 identified in a girl with developmental delay and hearing loss.
Jianhua Zhao, Sarah E Noon, Ian D Krantz, Yaning Wu

Am J Med Genet C Semin Med Genet· June 2016

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Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features.
Olivia L Katz, Ian D Krantz, Sarah E Noon

Am J Med Genet C Semin Med Genet· June 2016

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Characterization of limb differences in children with Cornelia de Lange Syndrome.
Devanshi Mehta, Samantha A Schrier Vergano, Matthew Deardorff, Sarika Aggarwal, Akash Barot, Sarah E Noon

Am J Med Genet C Semin Med Genet· June 2016

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NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity.
Maninder Kaur, Devanshi Mehta, Sarah E Noon, Matthew A Deardorff, Zhe Zhang

Am J Med Genet C Semin Med Genet· June 2016

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Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses.
Kathleen January, Laura J Conway, Matthew Deardorff, Ann Harrington, Ian D Krantz, Sarah E Noon

Am J Med Genet C Semin Med Genet· June 2016

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Dr. Laird G. Jackson Festschrift.
Sarah E Noon, Matthew A Deardorff, Ian D Krantz

Am J Med Genet C Semin Med Genet· June 2016

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Attitudes about the use of internet support groups and the impact among parents of children with Cornelia de Lange syndrome.
Cara N Cacioppo, Laura J Conway, Devanshi Mehta, Ian D Krantz, Sarah E Noon

Am J Med Genet C Semin Med Genet· June 2016

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DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
Jianling Ji, Hane Lee, Bob Argiropoulos, Naghmeh Dorrani, John Mann, Sarah E Noon

Eur J Hum Genet· November 2015

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USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.
Yi-Heng Hao, Michael D Fountain, Klementina Fon Tacer, Fan Xia, Weimin Bi, Sarah E Noon

Mol Cell· September 2015

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Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
Mindy H Li, Jenica L Abrudan, Matthew C Dulik, Ariella Sasson, Joshua Brunton, Sarah E Noon

Hum Genomics· July 2015

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Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium.
Antonie D Kline, Anne L Calof, Arthur D Lander, Jennifer L Gerton, Ian D Krantz, Sarah Noon

Am J Med Genet A· June 2015

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Elevation of insulin-like growth factor binding protein-2 level in Pallister-Killian syndrome: implications for the postnatal growth retardation phenotype.
Kosuke Izumi, Emily Kellogg, Katsunori Fujiki, Maninder Kaur, Richard K Tilton, Sarah Noon

Am J Med Genet A· June 2015

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Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
Kosuke Izumi, Ryuichiro Nakato, Zhe Zhang, Andrew C Edmondson, Sarah Noon

Nat Genet· April 2015

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NKX2.5 mutation identification on exome sequencing in a patient with heterotaxy.
Kosuke Izumi, Sarah Noon, Alisha Wilkens, Ian D Krantz

Eur J Med Genet· October 2014

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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Frank J Kaiser, Morad Ansari, Diana Braunholz, María Concepción Gil-Rodríguez, Christophe Decroos, Sarah E Noon

Hum Mol Genet· June 2014

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Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment.
David N Finegold, Catherine J Baty, Kelly Z Knickelbein, Shelley Perschke, Sarah E Noon

Clin Cancer Res· April 2012

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