Mira Bjelotomich Irons, MD
Vice Chair for Finance, Department of Pediatrics; Associate Chief, Division of Genetics and Genomics
Member of the Faculty, Harvard Medical School
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Mira Bjelotomich Irons, MD
Vice Chair for Finance, Department of Pediatrics; Associate Chief, Division of Genetics and Genomics
Member of the Faculty, Harvard Medical School
Medical Services
Languages
English
Education
Undergraduate School
Northwestern University
1973
Chicago
IL
Graduate School
Northwestern University
1978
Chicago
IL
Medical School
Northwestern University, Feinberg School of Medicine
1980
Chicago
IL
Internship
Pediatrics
Children's Memorial Hospital
1981
Chicago
IL
Residency
Pediatrics
Children's Memorial Hospital
1983
Chicago
IL
Fellowship
Pediatrics (Genetics)
Massachusetts General Hospital
1986
Boston
MA
Fellowship
Clinical and Biochemical Genetics
Boston Children's Hospital
1986
Boston
MA
Certifications
American Board of Medical Genetics and Genomics (Clinical Biochemical Genetics)
American Board of Medical Genetics and Genomics (Clinical Genetics)
American Board of Pediatrics (General)
Publications
Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants. View Abstract
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. View Abstract
Trustworthy Augmented Intelligence in Health Care. View Abstract
Focused Revision: ACMG practice resource: Genetic evaluation of short stature. View Abstract
Longitudinal assessments in continuing specialty certification and lifelong learning. View Abstract
Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome. View Abstract
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. View Abstract
The ABMS MOC Part III Examination: Value, Concerns, and Alternative Formats. View Abstract
Expanding Educators' Contributions to Continuous Quality Improvement of American Board of Medical Specialties Maintenance of Certification. View Abstract
Maintenance of certification 2.0--strong start, continued evolution. View Abstract
Copy number variation plays an important role in clinical epilepsy. View Abstract
Calvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1. View Abstract
Moyamoya syndrome associated with neurofibromatosis Type 1: perioperative and long-term outcome after surgical revascularization. View Abstract
Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology. View Abstract
[18F]-Fluorodeoxyglucose positron emission tomography in children with neurofibromatosis type 1 and plexiform neurofibromas: correlation with malignant transformation. View Abstract
The development and implementation of an in-service exam for medical genetics residency programs. View Abstract
Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype. View Abstract
Competencies for the physician medical geneticist in the 21st century. View Abstract
Chromosomal microarray testing influences medical management. View Abstract
Prevalence of sleep problems in Smith-Lemli-Opitz syndrome. View Abstract
The phenotype of recurrent 10q22q23 deletions and duplications. View Abstract
Association of rapidly progressive moyamoya syndrome with bevacizumab treatment for glioblastoma in a child with neurofibromatosis type 1. View Abstract
Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1. View Abstract
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. View Abstract
Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS). View Abstract
22q13.3 deletion syndrome: clinical and molecular analysis using array CGH. View Abstract
Pilot study of a novel computerized task to assess spatial learning in children and adolescents with neurofibromatosis type 1. View Abstract
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. View Abstract
ACMG practice guideline: genetic evaluation of short stature. View Abstract
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. View Abstract
The genetics clinic: where does the time go? View Abstract
Diagnostic utility of array-based comparative genomic hybridization in a clinical setting. View Abstract
Brainstem lesions in neurofibromatosis type 1. View Abstract
Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. View Abstract
A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes. View Abstract
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. View Abstract
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. View Abstract
Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum. View Abstract
Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome. View Abstract
Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene. View Abstract
Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work? View Abstract
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. View Abstract
Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. View Abstract
The biology and management of laryngeal neurofibroma. View Abstract
Cholesterol in childhood: friend or foe?: Commentary on the article by Merkens et al. on page 726. View Abstract
Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assay. View Abstract
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. View Abstract
Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. View Abstract
The call from the newborn screening laboratory: frustration in the afternoon. View Abstract
Use of subtelomeric fluorescence in situ hybridization in cytogenetic diagnosis. View Abstract
Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome. View Abstract
Toriello-Carey syndrome: delineation and review. View Abstract
Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease. View Abstract
MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. View Abstract
Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness. View Abstract
Participation by clinical geneticists in genetic advocacy groups. View Abstract
Further delineation of cardiac abnormalities in Costello syndrome. View Abstract
Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. View Abstract
Utility of hemodialysis in maple syrup urine disease. View Abstract
Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency. View Abstract
Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry. View Abstract
Clinical picture: Multicolour karyotyping. View Abstract
Identification of a fatty acid delta6-desaturase deficiency in human skin fibroblasts. View Abstract
Cerebral infarction in Menkes' disease. View Abstract
Gomez-Lopez-Hernandez syndrome: expansion of the phenotype. View Abstract
Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. View Abstract
Antenatal therapy of Smith-Lemli-Opitz syndrome. View Abstract
Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses. View Abstract
Increased incidence of renal anomalies in patients with chromosome 22q11 microdeletion. View Abstract
Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols. View Abstract
Prenatal diagnosis of Smith-Lemli-Opitz syndrome. View Abstract
Skeletal anomalies and deformities in patients with deletions of 22q11. View Abstract
Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS) View Abstract
Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. View Abstract
The Smith-Lemli-Opitz syndrome: a potentially fatal birth defect caused by a block in the last enzymatic step in cholesterol biosynthesis. View Abstract
Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes. View Abstract
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. View Abstract
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. View Abstract
Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome. View Abstract
Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. View Abstract
Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. View Abstract
Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome. View Abstract
Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient. View Abstract
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. View Abstract
Screening for metabolic disorders. How are we doing? View Abstract
Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. View Abstract
Development of a peer support system for those who have chosen pregnancy termination after prenatal diagnosis of a fetal abnormality. View Abstract
The prenatal sonographic diagnosis of lethal multiple pterygium syndrome: a heritable cause of recurrent abortion. View Abstract
Folinic acid therapy in treatment of dihydropteridine reductase deficiency. View Abstract
Metabolic syndromes with dermatologic manifestations. View Abstract
Accumulation of galactose-1-phosphate in the galactosemic fetus despite maternal milk avoidance. View Abstract