Keck School Faculty

Sulagna C. Saitta, MD, PhD
Sulagna C. Saitta, MD, PhD
Associate Professor of Clinical Pathology
Pediatrics
CHLA 4650 W. Sunset Blvd. Off Campus Los Angeles

Immune and Genetic Features of the Chromosome 22q112 Deletion (DiGeorge Syndrome). Curr Allergy Asthma Rep. 2018 Oct 30; 18(12):75. . View in PubMed

Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients Am J Med Genet A. 2018 Aug; 176(8):1711-1722. . View in PubMed

Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients Am J Med Genet A. 2018 Jul 28. . View in PubMed

Interstitial Chromosome 3p13p14 Deletions: An Update and Review Mol Syndromol. 2018 May; 9(3):122-133. . View in PubMed

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome Am J Med Genet A. 2018 Apr; 176(4):862-876. . View in PubMed

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome Am J Med Genet A. 2018 04; 176(4):862-876. . View in PubMed

Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma Am J Med Genet A. 2017 May; 173(5):1390-1395. . View in PubMed

Interstitial Chromosome 3p141 Deletion due to a Maternal Insertion: Phenotype and Association with Balanced Parental Rearrangement. Mol Syndromol. 2016 Apr; 7(1):43-8. . View in PubMed

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution JCI Insight. 2016 06 16; 1(9). . View in PubMed

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects Am J Hum Genet. 2016 06 02; 98(6):1235-1242. . View in PubMed

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p133 microdeletion/microduplication syndrome. Eur J Hum Genet. 2015 Dec; 23(12):1615-26. . View in PubMed

Intragenic KANSL1 mutations and chromosome 17q2131 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. J Med Genet. 2015 Dec; 52(12):804-14. . View in PubMed

TUBB4A de novo mutations cause isolated hypomyelination Neurology. 2014 Sep 02; 83(10):898-902. . View in PubMed

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 01; 23(11):2888-900. . View in PubMed

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy Am J Med Genet A. 2013 Aug; 161A(8):1929-39. . View in PubMed

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; 158A(12):3033-45. . View in PubMed

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis J Med Genet. 2011 Jun; 48(6):396-406. . View in PubMed

High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q112 deletion syndrome. Hum Mutat. 2011 Jan; 32(1):91-7. . View in PubMed

Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints Am J Med Genet A. 2010 Dec; 152A(12):3074-83. . View in PubMed

Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome? Am J Med Genet A. 2010 Jul; 152A(7):1621-6.. View in PubMed

Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH Genet Med. 2009 May; 11(5):314-22. . View in PubMed

Identification of familial and de novo microduplications of 22q1121-q11. 23 distal to the 22q11. 21 microdeletion syndrome region. Hum Mol Genet. 2009 Apr 15; 18(8):1377-83. . View in PubMed

MAP'ing CNS development and cognition: an ERKsome process Neuron. 2009 Jan 29; 61(2):160-7. . View in PubMed

Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development Proc Natl Acad Sci U S A. 2008 Nov 04; 105(44):17115-20. . View in PubMed

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 15; 146A(14):1828-31. . View in PubMed

Deletion of ERK2 mitogen-activated protein kinase identifies its key roles in cortical neurogenesis and cognitive function J Neurosci. 2008 Jul 02; 28(27):6983-95. . View in PubMed

Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients Am J Med Genet A. 2007 Dec 15; 143A(24):2981-3008. . View in PubMed

From microscopes to microarrays: dissecting recurrent chromosomal rearrangements Nat Rev Genet. 2007 Nov; 8(11):869-83. . View in PubMed

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome Genet Med. 2007 Sep; 9(9):607-16. . View in PubMed

Low copy repeats mediate distal chromosome 22q112 deletions: sequence analysis predicts breakpoint mechanisms. Genome Res. 2007 Apr; 17(4):482-91. . View in PubMed

Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene Am J Med Genet A. 2006 Sep 01; 140A(17):1876-9. . View in PubMed

Effects of COMT genotype on behavioral symptomatology in the 22q112 Deletion Syndrome. Child Neuropsychol. 2005 Feb; 11(1):109-17. . View in PubMed

Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q112 deletion syndrome. Am J Psychiatry. 2004 Sep; 161(9):1700-2. . View in PubMed

Autosomal dominant inheritance of infantile myofibromatosis Am J Med Genet A. 2004 Apr 30; 126A(3):261-6. . View in PubMed

Aberrant interchromosomal exchanges are the predominant cause of the 22q112 deletion. Hum Mol Genet. 2004 Feb 15; 13(4):417-28. . View in PubMed

Independent de novo 22q112 deletions in first cousins with DiGeorge/velocardiofacial syndrome. Am J Med Genet A. 2004 Jan 30; 124A(3):313-7. . View in PubMed

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