Nara Sobreira

Nara Sobreira

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Nara Sobreira

Nara Sobreira

Publications by authors named "Nara Sobreira"

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Bi-allelic Pro291Leu variant in KCNQ4 leads to early onset non-syndromic hearing loss.

Gene 2019 Jul 24;705:109-112. Epub 2019 Apr 24.

School of Biological Sciences, University of the Punjab, Quaid-i-Azam campus, Lahore 54590, Pakistan. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2019.04.064DOI Listing
July 2019

Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.

Am J Hum Genet 2019 Jul 6;105(1):48-64. Epub 2019 Jun 6.

Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91240, Israel; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.

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http://dx.doi.org/10.1016/j.ajhg.2019.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612515PMC
July 2019

Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis.

J Ophthalmol 2018 11;2018:2984934. Epub 2018 Jul 11.

Department of Otorhinolaryngology, School of Medicine, University of Maryland, Baltimore, MD, USA.

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http://dx.doi.org/10.1155/2018/2984934DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6079493PMC
July 2018

Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome.

Eur J Hum Genet 2018 05 16;26(5):669-675. Epub 2018 Feb 16.

Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas, Campinas, Brazil.

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http://dx.doi.org/10.1038/s41431-017-0055-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945668PMC
May 2018

Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant.

Eur J Med Genet 2018 Mar 21;61(3):134-138. Epub 2017 Nov 21.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1016/j.ejmg.2017.11.005DOI Listing
March 2018

A novel pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures.

Cold Spring Harb Mol Case Stud 2018 02 1;4(1). Epub 2018 Feb 1.

Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, California 94143, USA.

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http://dx.doi.org/10.1101/mcs.a002287DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5793775PMC
February 2018

Familial monophasic acute transverse myelitis due to the pathogenic variant in .

Neurol Genet 2018 Feb 30;4(1):e213. Epub 2018 Jan 30.

Department of Neurology (M.A.M., S.J.P., C.A.P., M.L.), Institute of Genetic Medicine (N.L.S., D.A., D.V., K.H.B.), and Department of Pathology (K.H.B.), Johns Hopkins University, Baltimore, MD; and Department of Neurology (T.-S.N.), Chonnam National University Medical School, Gwangju, South Korea.

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http://dx.doi.org/10.1212/NXG.0000000000000213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820602PMC
February 2018

Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.

Eur J Hum Genet 2017 10 26;25(10):1134-1141. Epub 2017 Jul 26.

Discipline of Paediatrics &Child Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.

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http://dx.doi.org/10.1038/ejhg.2017.119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602020PMC
October 2017

Matchmaker Exchange.

Curr Protoc Hum Genet 2017 10 18;95:9.31.1-9.31.15. Epub 2017 Oct 18.

The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

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http://dx.doi.org/10.1002/cphg.50DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6016856PMC
October 2017

A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.

Am J Med Genet A 2017 Aug 2;173(8):2246-2250. Epub 2017 Jun 2.

Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/ajmg.a.38292DOI Listing
August 2017

Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment.

Am J Med Genet A 2017 Aug 7;173(8):2275-2279. Epub 2017 Jun 7.

Department of Pediatrics,, Division of Genetics, University of California, San Francisco, California.

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http://dx.doi.org/10.1002/ajmg.a.38314DOI Listing
August 2017

Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome.

Am J Med Genet A 2016 07 3;170(7):1934-7. Epub 2016 May 3.

Department of Genetics-Research Unit, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.

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http://dx.doi.org/10.1002/ajmg.a.37683DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5618706PMC
July 2016

Lessons learned from the search for genes responsible for rare Mendelian disorders.

Mol Genet Genomic Med 2016 Jul 18;4(4):371-5. Epub 2016 Jul 18.

McKusick-Nathans Institute of Genetic MedicineJohns Hopkins University School of MedicineBaltimoreMaryland 21205; Department of PediatricsJohns Hopkins University School of MedicineBaltimoreMaryland 21205.

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http://dx.doi.org/10.1002/mgg3.233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947856PMC
July 2016

Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia.

Haematologica 2016 06 4;101(6):e228-31. Epub 2016 Mar 4.

Division of Hematology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA

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http://dx.doi.org/10.3324/haematol.2015.139790DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5013967PMC
June 2016

A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.

Am J Hum Genet 2016 05 28;98(5):909-918. Epub 2016 Apr 28.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.1016/j.ajhg.2016.03.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863664PMC
May 2016

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.

Am J Med Genet A 2016 Jan 23;170A(1):156-61. Epub 2015 Sep 23.

Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://doi.wiley.com/10.1002/ajmg.a.37405
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.37405DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5448135PMC
January 2016

Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics.

Genet Med 2015 Oct 8;17(10):782-8. Epub 2015 Jan 8.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2014.196DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4496331PMC
October 2015

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.

Hum Mutat 2015 Oct 13;36(10):928-30. Epub 2015 Aug 13.

Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.

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http://dx.doi.org/10.1002/humu.22844DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833888PMC
October 2015

New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation.

J Dermatol 2015 Aug 11;42(8):821-2. Epub 2015 May 11.

Department of Pediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://doi.wiley.com/10.1111/1346-8138.12917
Publisher Site
http://dx.doi.org/10.1111/1346-8138.12917DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4704090PMC
August 2015

γ-Secretase Mutation in an African American Family With Hidradenitis Suppurativa.

JAMA Dermatol 2015 Jun;151(6):668-70

Department of Dermatology, Johns Hopkins University School of Medicine, Baltimore, Maryland.

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http://dx.doi.org/10.1001/jamadermatol.2014.5306DOI Listing
June 2015

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.

Am J Med Genet A 2015 Feb 13;167A(2):271-81. Epub 2014 Nov 13.

Division of Medical Genetics, A.I. duPont Hospital for Children, Wilmington, Delaware, and Sidney Kimmel Medical School at T. Jefferson University, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.36863DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5589071PMC
February 2015

DIAMUND: direct comparison of genomes to detect mutations.

Hum Mutat 2014 Mar;35(3):283-8

Center for Computational Biology, Johns Hopkins School of Medicine, Baltimore, Maryland, 21205; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, 21205.

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http://dx.doi.org/10.1002/humu.22503DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4031744PMC
March 2014

PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features.

Hum Mutat 2013 Apr 4;34(4):566-71. Epub 2013 Mar 4.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.

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http://dx.doi.org/10.1002/humu.22283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3627299PMC
April 2013

Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing.

Genome Res 2011 Oct 2;21(10):1720-7. Epub 2011 Sep 2.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1101/gr.122986.111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3202288PMC
October 2011

Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder.

Am J Med Genet A 2009 Nov;149A(11):2581-3

Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1002/ajmg.a.33079DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5004776PMC
November 2009

Complex toe syndactyly with characteristic facial phenotype: a new syndrome?

Am J Med Genet A 2008 Jul;146A(13):1725-8

Universidade Federal de Sao Paulo, Centro de Genetica Medica, Sao Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.32377DOI Listing
July 2008