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


PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight. 2016 Jun 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 Jun 2; 98(6):1235-42. View in: PubMed

Interstitial Chromosome 3p14. 1 Deletion due to a Maternal Insertion: Phenotype and Association with Balanced Parental Rearrangement. Mol Syndromol. 2016 Apr; 7(1):43-8. View in: PubMed

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13. 3 microdeletion/microduplication syndrome. Eur J Hum Genet. 2015 Dec; 23(12):1615-26. View in: PubMed

Intragenic KANSL1 mutations and chromosome 17q21. 31 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 2; 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 1; 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

More Clinical Overlap between 22q11. 2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated. Mol Syndromol. 2013 Jun; 4(5):235-45. 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 22q11. 2 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. 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 22q11. 21-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 4; 105(44):17115-20. View in: PubMed

Monosomy 1p36 uncovers a role for OX40 in survival of activated CD4+ T cells. Clin Immunol. 2008 Aug; 128(2):181-9. 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 2; 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 22q11. 2 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 1; 140A(17):1876-9. View in: PubMed

Effects of COMT genotype on behavioral symptomatology in the 22q11. 2 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 22q11. 2 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 22q11. 2 deletion. Hum Mol Genet. 2004 Feb 15; 13(4):417-28. View in: PubMed

Independent de novo 22q11. 2 deletions in first cousins with DiGeorge/velocardiofacial syndrome. Am J Med Genet A. 2004 Jan 30; 124A(3):313-7. View in: PubMed

The 22q11. 2 deletion syndrome. Adv Pediatr. 2001; 48:39-73. View in: PubMed

Chromosome 22-specific low copy repeats and the 22q11. 2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum Mol Genet. 2000 Mar 1; 9(4):489-501. View in: PubMed

The glutamine paradox in a neonate with propionic acidaemia and severe hyperammonaemia. J Inherit Metab Dis. 2000 Feb; 23(1):85-6. View in: PubMed

A 22q11. 2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects. Am J Hum Genet. 1999 Aug; 65(2):562-6. View in: PubMed

Cranial MRI in ataxia-telangiectasia. Neuroradiology. 1995 Jan; 37(1):77-82. View in: PubMed

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