Dr. Joan Stoler, MD

• Pediatrics

• Genetics

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• Massachusetts General Hospital, Clinical Genetics

  Fellowship Hospital, 1993

• Columbia University|columbia University College Of Physicians And Surgeons

  Medical School, 1989

• New England Medical Center, Pediatrics

  Residency Hospital, 1984

• Copy number variation plays an important role in clinical epilepsy, 2014-06-13

• Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations inZBTB18andHNRNPU, 2017-03-10

• An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery, 2018-08-13

• Updating the neurodevelopmental profile of Alazami syndrome: illustrating the role of developmental assessment in rare genetic disorders, 2019-05-10

• Deletions ofNRXN1(Neurexin-1) Predispose to a Wide Spectrum of Developmental Disorders, 2010-04-07

• Novel Loss-of-Function Variants inDIAPH1Associated With Syndromic Microcephaly, Blindness, and Early Onset Seizures, 2015-10-13

• Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about, 2013-05-16

• Deletions ofNRXN1(neurexin-1) predispose to a wide spectrum of developmental disorders, 2010-06-05

• FOXE3plays a significant role in autosomal recessive microphthalmia, 2010-10-28

• Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss ofGDF11, 2021-06-10