Sulagna Saitta

Sulagna Saitta

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Sulagna Saitta

Sulagna Saitta

Publications by authors named "Sulagna Saitta"

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36Publications

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A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.

Cold Spring Harb Mol Case Stud 2019 04 1;5(2). Epub 2019 Apr 1.

Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.

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http://dx.doi.org/10.1101/mcs.a003756DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549575PMC
April 2019

Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant.

Cancer Genet 2019 02 30;231-232:62-66. Epub 2018 Dec 30.

Department of Pathology & Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/j.cancergen.2018.12.006DOI Listing
February 2019

Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome).

Curr Allergy Asthma Rep 2018 10 30;18(12):75. Epub 2018 Oct 30.

Department of Pathology, Division of Genomic Medicine, Children's Hospital Los Angeles, USC Keck School of Medicine, 4650 Sunset Blvd, Los Angeles, CA, 90027, USA.

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http://dx.doi.org/10.1007/s11882-018-0823-5DOI Listing
October 2018

Interstitial Chromosome 3p13p14 Deletions: An Update and Review.

Mol Syndromol 2018 May 7;9(3):122-133. Epub 2018 Apr 7.

Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles.

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http://dx.doi.org/10.1159/000488168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006617PMC
May 2018

Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.

Am J Med Genet A 2017 May 28;173(5):1390-1395. Epub 2017 Mar 28.

Children's Center for Cancer and Blood Diseases, Children's Hospital Los Angeles, Los Angeles, California.

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http://doi.wiley.com/10.1002/ajmg.a.38184
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http://dx.doi.org/10.1002/ajmg.a.38184DOI Listing
May 2017

Interstitial Chromosome 3p14.1 Deletion due to a Maternal Insertion: Phenotype and Association with Balanced Parental Rearrangement.

Mol Syndromol 2016 Apr 16;7(1):43-8. Epub 2016 Mar 16.

Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, San Juan Capistrano, Calif., USA; Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, Calif., USA.

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http://dx.doi.org/10.1159/000444603DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862392PMC
April 2016

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region.

Am J Med Genet A 2012 Dec 20;158A(12):3033-45. Epub 2012 Nov 20.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/ajmg.a.35500DOI Listing
December 2012

Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?

Am J Med Genet A 2010 Jul;152A(7):1621-6

Medical Genetics Research Group and Regional Genetics Service, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.33200DOI Listing
July 2010

MAP'ing CNS development and cognition: an ERKsome process.

Neuron 2009 Jan;61(2):160-7

Department of Neurosciences, Case Western Reserve University, Cleveland, OH 44106, USA.

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http://dx.doi.org/10.1016/j.neuron.2009.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663441PMC
January 2009

Intracytoplasmic sperm injection (ICSI) with transmission of a ring(Y) chromosome and ovotesticular disorder of sex development in offspring.

Am J Med Genet A 2008 Jul;146A(14):1828-31

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/ajmg.a.32358DOI Listing
July 2008

From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.

Nat Rev Genet 2007 Nov;8(11):869-83

Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Philadelphia 19104-4318, USA.

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http://dx.doi.org/10.1038/nrg2136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2858421PMC
November 2007

Autosomal dominant inheritance of infantile myofibromatosis.

Am J Med Genet A 2004 Apr;126A(3):261-6

Division of Human and Molecular Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/ajmg.a.20598DOI Listing
April 2004

Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.

Hum Mol Genet 2004 Feb 17;13(4):417-28. Epub 2003 Dec 17.

Division of Human Genetics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1093/hmg/ddh041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2836129PMC
February 2004

Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome.

Am J Med Genet A 2004 Jan;124A(3):313-7

Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/ajmg.a.20421DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2811370PMC
January 2004