Naghmeh Dorrani

Naghmeh Dorrani

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Naghmeh Dorrani

Naghmeh Dorrani

Publications by authors named "Naghmeh Dorrani"

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23Publications

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A case report of a novel germline GNAS mutation in sonic hedgehog activated medulloblastoma.

Pediatr Blood Cancer 2020 Mar 2;67(3):e28103. Epub 2019 Dec 2.

Division of Hematology, Oncology and Blood and Marrow Transplantation, Children's Hospital of, Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/pbc.28103DOI Listing
March 2020

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 07 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and haploinsufficiency syndromes.

Clin Case Rep 2017 06 18;5(6):833-840. Epub 2017 Apr 18.

UCLA Department of Pathology and Laboratory Medicine David Geffen School of Medicine University of California, Los Angeles Los Angeles California.

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http://dx.doi.org/10.1002/ccr3.904DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5458005PMC
June 2017

An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.

Genes Chromosomes Cancer 2016 Feb 6;55(2):131-42. Epub 2015 Nov 6.

Pathology and Laboratory Medicine, University of California at Los Angeles, David Geffen School of Medicine, Los Angeles, CA, 90095.

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http://dx.doi.org/10.1002/gcc.22319DOI Listing
February 2016

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.

Am J Hum Genet 2015 Mar 26;96(3):498-506. Epub 2015 Feb 26.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.01.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375619PMC
March 2015

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

JAMA 2014 Nov;312(18):1880-7

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles2Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles6Department of Human Genetics, David Ge.

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http://dx.doi.org/10.1001/jama.2014.14604DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4278636PMC
November 2014

First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities.

Am J Med Genet A 2013 Jul 21;161A(7):1773-8. Epub 2013 May 21.

Department of Pathology, Laboratory Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, USA.

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http://dx.doi.org/10.1002/ajmg.a.35974DOI Listing
July 2013

Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.

Am J Med Genet A 2004 Apr;126A(2):129-40

Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Room H3B-337, PO Box 269, Wilmington, DE 19899, USA.

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http://dx.doi.org/10.1002/ajmg.a.20571DOI Listing
April 2004

Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.

Am J Med Genet A 2003 Oct;122A(3):223-6

Department of Human Genetics, UCLA School of Medicine, Los Angeles, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.20320DOI Listing
October 2003

The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome.

Ment Retard Dev Disabil Res Rev 2002 ;8(2):94-8

Departments of Human Genetics, Mental Retardation Research Center, University of California, Los Angeles, 695 Chales Young Drive South, Los Angeles California, USA.

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http://dx.doi.org/10.1002/mrdd.10023DOI Listing
September 2002