JoanMarilynStolerMD

Medical Genetics • Boston, MA

Clinical Biochemical Genetics, Clinical Genetics

Associate Professor of Pediatrics, Boston Children's Hospital

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Office
300 Longwood Ave
Children's Hospital
Boston, MA 02115
Phone+1 617-355-6394

Fax+1 617-730-0466
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Education & Training

Massachusetts General HospitalFellowship, Clinical Biochemical Genetics, 1990 - 1993
Children's Hospital/Boston Medical CenterFellowship, Adolescent Medicine, 1984 - 1985
Tufts Medical CenterResidency, Pediatrics, 1981 - 1984
Columbia University Vagelos College of Physicians and SurgeonsClass of 1981

Certifications & Licensure

MA State Medical License 1984 - 2025
VT State Medical License 2021 - 2024
ME State Medical License Active through 2007
RI State Medical License 1995 - 1997
American Board of Pediatrics Pediatrics
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics

Awards, Honors, & Recognition

Regional Top Doctor Castle Connolly, 2014

Publications & Presentations

PubMed

5 citations
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Suma P Shankar, Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Johanna Hörberg, Lama AlAbdi, Klaus Mayer, Koray Ütkür, Kristin G Monaghan, Joel Krier, ...> ;Genetics in Medicine. 2022 Jul 1
6 citations
One is the loneliest number: genotypic matchmaking using the electronic health record.
, , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;Genetics in Medicine. 2021 Jul 6
12 citations
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
Thomas A. Ravenscroft, Jennifer B. Phillips, Elizabeth L. Fieg, Sameer S. Bajikar, Judy L. Peirce, Jeremy Wegner, Alia A. Luna, Eric J. Fox, Yi-Lin Yan, Jill A. Rosenf...> ;Genetics in Medicine. 2021 Jun 10
34 citations
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome
, , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;American Journal of Medical Genetics. Part A. 2021 Mar 30
13 citations
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
Anna R. Duncan, Antonio Vitobello, Stephan C. Collins, Valerie E. Vancollie, Christopher J. Lelliott, Lance H. Rodan, Jiahai Shi, Ann Seman, Emanuele Agolini, Antonio ...> ;American Journal of Human Genetics. 2020 Dec 3
16 citations
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
, , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;Brain. 2020 Aug 1
22 citations
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Theodore G. Drivas, Dong Li, Divya Nair, Joseph T. Alaimo, Marielle Alders, Janine Altmüller, Tahsin Stefan Barakat, E. Martina Bebin, Nicole L. Bertsch, Patrick R. Bl...> ;European Journal of Human Genetics. 2020 Jun 1
74 citations
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Cynthia S. Gubbels, Grace E. VanNoy, Jill A. Madden, Deborah Copenheaver, Sandra Yang, Monica H. Wojcik, Nina B. Gold, Casie A. Genetti, Joan M. Stoler, Richard B. Par...> ;Genetics in Medicine. 2020 Apr 1
35 citations
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
, , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;Biological Psychiatry. 2020 Jan 15
32 citations
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Christopher C.Y. Mak, Dan Doherty, Angela E. Lin, Nancy Vegas, Megan T. Cho, Géraldine Viot, Clémantine Dimartino, James D. Weisfeld-Adams, Davor Lessel, Shelagh Joss,...> ;Brain. 2020 Jan 1
1 citations
Recent developments in fetal alcohol spectrum disorder.
Joshua Baker, Joan M. Stoler> ;Current Opinion in Endocrinology, Diabetes, and Obesity. 2020 Feb 1
39 citations
Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.
, , , , , , , , , , , , , , , , , , , , , , , , , , , > ;Journal of Genetic Counseling. 2019 Dec 1
8 citations
Erratum: De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia (The A...
, , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;American Journal of Human Genetics. 2019 Sep 5
10 citations
Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders
Monica H. Wojcik, Kate Linnea, Joan M. Stoler, Leonard Rappaport> ;American Journal of Medical Genetics. Part A. 2019 Aug 1
47 citations
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
, , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;American Journal of Human Genetics. 2019 Jun 6
50 citations
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
Keren Machol, Justine Rousseau, Sophie Ehresmann, Thomas Garcia, Thi Tuyet Mai Nguyen, Rebecca C. Spillmann, Jennifer A. Sullivan, Vandana Shashi, Yong-hui Jiang, Nich...> ;American Journal of Human Genetics. 2019 Jan 3
3 citations
Genetics and Metabolism.
Joan M. Stoler> ;Pediatric Annals. 2018 May 1
53 citations
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
, , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;American Journal of Human Genetics. 2018 Mar 1
8 citations
Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder.
Saumya Shekhar Jamuar, Jonathan Picker, Joan M. Stoler> ;The Journal of Pediatrics. 2018 May 1
Prenatal and Postnatal Genetic Testing: Why, How, and When?
Joan M. Stoler> ;Pediatric Annals. 2017 Nov 1
133 citations
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.
Julia Wang, Rami Al-Ouran, Yanhui Hu, Seon Young Kim, Ying-Wooi Wan, Michael F. Wangler, Shinya Yamamoto, Hsiao-Tuan Chao, Aram Comjean, Stephanie E. Mohr, Christopher...> ;American Journal of Human Genetics. 2017 Jun 1
55 citations
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
Christel Depienne, Caroline Nava, Boris Keren, Solveig Heide, Agnès Rastetter, Sandrine Passemard, Sandra Chantot-Bastaraud, Marie-Laure Moutard, Pankaj B. Agrawal, Gr...> ;Human Genetics. 2017 Mar 10
115 citations
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
Rachel B. Ramoni, John J. Mulvihill, David R. Adams, Patrick Allard, Euan A. Ashley, Jonathan A. Bernstein, William A. Gahl, Rizwan Hamid, Joseph Loscalzo, Alexa T. Mc...> ;American Journal of Human Genetics. 2017 Feb 2
27 citations
Musculoskeletal Conditions in a Pediatric Population with Ehlers-Danlos Syndrome
Courtney M. Stern, Michael J. Pepin, Joan M. Stoler, Dennis E. Kramer, Samantha A. Spencer, Cynthia J. Stein> ;The Journal of Pediatrics. 2017 Feb 1
78 citations
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
Hsiao-Tuan Chao, Mariska Davids, Elizabeth A. Burke, John Pappas, Jill A. Rosenfeld, Alexandra J. McCarty, Taylor Davis, Lynne A. Wolfe, Camilo Toro, Cynthia J. Tifft,...> ;American Journal of Human Genetics. 2017 Jan 5
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Press Mentions

The AED (Antiepileptic Drug) Pregnancy RegistryA 6-Year ExperienceJanuary 13th, 2017

Hospital Affiliations

Boston Children's HospitalBoston, Massachusetts
Massachusetts General HospitalBoston, Massachusetts
Brigham and Women's HospitalBoston, Massachusetts