Assistant Professor of Pediatrics, Boston Children's Hospital
Medical Genetics
Dr. Joan M. Stoler, MD
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Joan M. Stoler is an expert in the field of Medical Genetics. He went to medical school at Columbia University College of Physicians & Surgeons. Columbia University College of Physicians & Surgeons is a top medical university. Columbia University College of Physicians & Surgeons is ranked 8 in research and 52 in primary care medicine He over the years received 1 awards: "Regional Top Doctor". Joan Stoler has written publications. He has 44 publications published with PubMed. The lastest paper is: 'Limb deficiencies identified by malformations surveillance programs.'
Publications
- NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings.
- Copy number variation plays an important role in clinical epilepsy.
- Redefining the progeroid form of ehlers-danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature.
- Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder.
- Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
- Oculo-ectodermal syndrome: Report of a case with mosaicism for a deletion on Xq12.
- Congenital malformations among infants born to women receiving montelukast, inhaled corticosteroids, and other asthma medications.
- Magnetic Resonance Imaging for Detection of Brain Abnormalities in Fetuses With Cleft Lip and/or Cleft Palate.
- Audiologic findings in Saethre-Chotzen syndrome.
- FOXE3 plays a significant role in autosomal recessive microphthalmia.
- Cleft palate in Pfeiffer syndrome.
- The frequency of palatal anomalies in Saethre-Chotzen syndrome.
- Mitral valve prolapse in Marfan syndrome: an old topic revisited.
- A tribute to Lewis B. Holmes: mentor and scholar.
- Alcohol dehydrogenase 1B genotype and fetal alcohol syndrome: a HuGE minireview.
- Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
- Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 36-2004. A 23-day-old infant with hypospadias and failure to thrive.
- Recognition of facial features of fetal alcohol syndrome in the newborn.
- Alcohol dehydrogenase 2 genotypes, maternal alcohol use, and infant outcome.
- Marked heterogeneity in Niemann-Pick disease, type C. Clinical and ultrastructural findings.
- Pancreatitis in Kawasaki disease.
- Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.
- Separation of amniotic membranes after amniocentesis in an individual with the classic form of EDS and haploinsufficiency for COL5A1 expression.
- Reassessment of patients with the diagnosis of fetal alcohol syndrome.
- Knowledge of and attitudes about Alzheimer disease genetics: report of a pilot survey and two focus groups.
- Maternal antiepileptic drug use and effects on fetal development.
- Limb deficiencies identified by malformations surveillance programs.
- Anterior laryngeal webs and 22q11 deletions.
- Molecular studies of segmental aneusomy: FISHing for the atypical cry in del(5)(p15.3).
- Cytogenetic and array-CGH characterization of a complex de novo rearrangement involving duplication and deletion of 9p and clinical findings in a 4-month-old female.
- A case of agnathia, situs inversus, and a normal central nervous system.
- Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.
- A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism.
- Genital abnormalities in females with Bardet-Biedl syndrome.
- Malformations reported in chorionic villus sampling exposed children: a review and analytic synthesis of the literature.
- A case of a closed partial cloacal septation defect with a patent urachus.
- The prenatal detection of significant alcohol exposure with maternal blood markers.
- Under-recognition of prenatal alcohol effects in infants of known alcohol abusing women.
- Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
- Bupropion in pregnancy and the prevalence of congenital malformations.
- Patients with Ehlers Danlos syndrome and CRPS: a possible association?
- A functional mutation in the terminal exon of elastin in severe, early-onset chronic obstructive pulmonary disease.
- Biomarkers of alcohol use in pregnancy.
Schools
Columbia University College of Physicians And Surgeons
New England Med Center
Children39s Hospital
Mass General Hospital
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
- Aetna HMO
- Choice Plus POS II
- Blue Card PPO
- BlueConnect HMO
- Blue with Managed Care Behavioral Health HMO
- Preferred Blue PPO
- Cigna HMO
- Cigna PPO
- Great West Healthcare-Cigna PPO
- LocalPlus
- Open Access Plus
- Commercial Insurance Company
- Fallon Community Health Plan
- First Health (Coventry Health Care) PPO
- Medicare MCR
- MultiPlan PPO
- PHCS Network PPO
- Choice Plus POS
- Navigate HMO
- Navigate POS
- Options PPO
- United Healthcare
Awards
- Regional Top Doctor
Education
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Boston Children's Hospital -
Tufts Medical Center -
Columbia University College of Physicians & Surgeons
Hospital
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Massachusetts General Hospital -
Boston Children's Hospital
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