Joan Stoler, MD
Clinical Geneticist, Division of Genetics and Genomics
Associate Professor of Pediatrics, Harvard Medical School
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Joan Stoler, MD
Clinical Geneticist, Division of Genetics and Genomics
Associate Professor of Pediatrics, Harvard Medical School
Medical Services
Languages
English
French
Spanish
Education
Undergraduate School
Biology
Brandeis University
1977
Waltham
MA
Medical School
Columbia College of Physicians and Surgeons
1981
New York
NY
Internship
Pediatrics
Tufts New England Medical Center
1982
Boston
MA
Residency
Pediatrics
Tufts New England Medical Center
1984
Boston
MA
Fellowship
Clinical Genetics
Massachusetts General Hospital
1993
Boston
MA
Certifications
American Board of Medical Genetics and Genomics (Clinical Biochemical Genetics)
Publications
Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits. View Abstract
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation. View Abstract
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. View Abstract
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder. View Abstract
Health Supervision for Children and Adolescents With Down Syndrome. View Abstract
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder. View Abstract
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. View Abstract
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. View Abstract
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects. View Abstract
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. View Abstract
Recent developments in fetal alcohol spectrum disorder. View Abstract
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. View Abstract
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. View Abstract
Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing. View Abstract
Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders. View Abstract
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery. View Abstract
Genetics and Metabolism. View Abstract
Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder. View Abstract
Prenatal and Postnatal Genetic Testing: Why, How, and When? View Abstract
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. View Abstract
Musculoskeletal Conditions in a Pediatric Population with Ehlers-Danlos Syndrome. View Abstract
Pulmonary Vasculopathy Associated with FIGF Gene Mutation. View Abstract
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. View Abstract
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay. View Abstract
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy. View Abstract
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination. View Abstract
Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype. View Abstract
Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield. View Abstract
Progressive Postnatal Pansynostosis. View Abstract
An assessment of clinician and researcher needs for support in the era of genomic medicine. View Abstract
Copy number variation plays an important role in clinical epilepsy. View Abstract
NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings. View Abstract
Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. View Abstract
Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature. View Abstract
Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about. View Abstract
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. View Abstract
Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder. View Abstract
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. View Abstract
ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. View Abstract
Oculo-ectodermal syndrome: report of a case with mosaicism for a deletion on Xq12. View Abstract
Congenital malformations among infants born to women receiving montelukast, inhaled corticosteroids, and other asthma medications. View Abstract
Audiologic findings in Saethre-Chotzen syndrome. View Abstract
A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism. View Abstract
Magnetic resonance imaging for detection of brain abnormalities in fetuses with cleft lip and/or cleft palate. View Abstract
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. View Abstract
FOXE3 plays a significant role in autosomal recessive microphthalmia. View Abstract
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. View Abstract
Cleft palate in Pfeiffer syndrome. View Abstract
A tribute to Lewis B. Holmes: mentor and scholar. View Abstract
Mitral valve prolapse in Marfan syndrome: an old topic revisited. View Abstract
The frequency of palatal anomalies in Saethre-Chotzen syndrome. View Abstract
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. View Abstract
Molecular studies of segmental aneusomy: FISHing for the atypical cry in del(5)(p15.3). View Abstract
Alcohol dehydrogenase 1B genotype and fetal alcohol syndrome: a HuGE minireview. View Abstract
Bupropion in pregnancy and the prevalence of congenital malformations. View Abstract
Knowledge of and attitudes about Alzheimer disease genetics: report of a pilot survey and two focus groups. View Abstract
Patients with Ehlers Danlos syndrome and CRPS: a possible association? View Abstract
A functional mutation in the terminal exon of elastin in severe, early-onset chronic obstructive pulmonary disease. View Abstract
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. View Abstract
Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 36-2004. A 23-day-old infant with hypospadias and failure to thrive. View Abstract
Recognition of facial features of fetal alcohol syndrome in the newborn. View Abstract
Biomarkers of alcohol use in pregnancy. View Abstract
Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation. View Abstract
Alcohol dehydrogenase 2 genotypes, maternal alcohol use, and infant outcome. View Abstract
Maternal antiepileptic drug use and effects on fetal development. View Abstract
Separation of amniotic membranes after amniocentesis in an individual with the classic form of EDS and haploinsufficiency for COL5A1 expression. View Abstract
Malformations reported in chorionic villus sampling exposed children: a review and analytic synthesis of the literature. View Abstract
Under-recognition of prenatal alcohol effects in infants of known alcohol abusing women. View Abstract
Reassessment of patients with the diagnosis of fetal alcohol syndrome. View Abstract
Limb deficiencies identified by malformations surveillance programs. View Abstract
The prenatal detection of significant alcohol exposure with maternal blood markers. View Abstract
Anterior laryngeal webs and 22q11 deletions. View Abstract
Marked heterogeneity in Niemann-Pick disease, type C. Clinical and ultrastructural findings. View Abstract
Genital abnormalities in females with Bardet-Biedl syndrome. View Abstract
A case of a closed partial cloacal septation defect with a patent urachus. View Abstract
A case of agnathia, situs inversus, and a normal central nervous system. View Abstract
Pancreatitis in Kawasaki disease. View Abstract
Locations