Joan Stoler

Joan Stoler

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Joan Stoler

Joan Stoler

Publications by authors named "Joan Stoler"

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Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders.

Am J Med Genet A 2019 Aug 10;179(8):1565-1569. Epub 2019 May 10.

Division of Developmental Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.61189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6663627PMC
August 2019

Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder.

J Pediatr 2018 05 3;196:270-274.e1. Epub 2018 Feb 3.

Division of Genetics, Boston Children's Hospital, Harvard Medical School, Boston, MA.

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http://dx.doi.org/10.1016/j.jpeds.2017.12.046DOI Listing
May 2018

Genetics and Metabolism.

Authors:
Joan Stoler

Pediatr Ann 2018 05;47(5):e185-e186

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http://dx.doi.org/10.3928/19382359-20180507-01DOI Listing
May 2018

Prenatal and Postnatal Genetic Testing: Why, How, and When?

Authors:
Joan M Stoler

Pediatr Ann 2017 Nov;46(11):e423-e427

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http://dx.doi.org/10.3928/19382359-20171023-01DOI Listing
November 2017

Musculoskeletal Conditions in a Pediatric Population with Ehlers-Danlos Syndrome.

J Pediatr 2017 02 28;181:261-266. Epub 2016 Nov 28.

Division of Sports Medicine, Department of Orthopedics; Harvard Medical School, Boston, MA. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2016.10.078DOI Listing
February 2017

Pulmonary Vasculopathy Associated with FIGF Gene Mutation.

Am J Pathol 2017 Jan 12;187(1):25-32. Epub 2016 Nov 12.

Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts. Electronic address:

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http://dx.doi.org/10.1016/j.ajpath.2016.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5225300PMC
January 2017

Progressive Postnatal Pansynostosis.

Cleft Palate Craniofac J 2015 11 28;52(6):751-7. Epub 2014 Oct 28.

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http://dx.doi.org/10.1597/14-092DOI Listing
November 2015

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.

Am J Hum Genet 2015 May 9;96(5):709-19. Epub 2015 Apr 9.

Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Pediatric Neurology Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570282PMC
May 2015

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield.

BMC Genomics 2014 Dec 17;15:1127. Epub 2014 Dec 17.

Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China.

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http://dx.doi.org/10.1186/1471-2164-15-1127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4378009PMC
December 2014

An assessment of clinician and researcher needs for support in the era of genomic medicine.

Per Med 2014 Aug;11(6):569-579

Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA 02115, USA.

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http://dx.doi.org/10.2217/pme.14.48DOI Listing
August 2014

Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.

Am J Med Genet A 2013 Oct 16;161A(10):2519-27. Epub 2013 Aug 16.

Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.36128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3788078PMC
October 2013

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.

Neurology 2013 Oct 27;81(16):1378-86. Epub 2013 Sep 27.

From the Division of Genetics (L.B.H., A.-T.N.L., R.S.H., J.N.P., M.A.-S., J.M.S., G.H.M.) and Division of Developmental Medicine (R.N.), Department of Medicine, and Howard Hughes Medical Institute (J.N.P.), Boston Children's Hospital, Boston, MA; Division of Child Neurology (A.M.), Department of Pediatrics, Jordan University Hospital, Amman, Jordan; Department of Anatomy (K.K., M.W.), Hokkaido University Graduate School of Medicine, Sapporo, Japan; Department of Physiology (W.K., M.Y.), School of Medicine, Keio University, Tokyo, Japan; Department of Pediatrics (E.L.-M., N.C.), New York Medical College, Valhalla, NY; Department of Pediatrics (M.A.-S.), Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates; Department of Pediatrics (R.N., J.M.S., G.H.M.), Harvard Medical School, Boston, MA; Department of Radiology and Biomedical Imaging (A.J.B.), University of California, San Francisco; and Pediatric Neurology Unit (G.H.M.), Department of Neurology, Massachusetts General Hospital, Boston.

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http://dx.doi.org/10.1212/WNL.0b013e3182a841a3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3806907PMC
October 2013

Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about.

Case Rep Pediatr 2013 16;2013:764659. Epub 2013 May 16.

Boston Children's Hospital, Harvard Medical School, Boston, MA 02115-5724, USA ; Boston Children's Hospital, Genetics Division, Hunnewell 536, 300 Longwood Avenue, Boston, MA 02115, USA.

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http://dx.doi.org/10.1155/2013/764659DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3670523PMC
June 2013

Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder.

J Pediatr 2013 Jan 10;162(1):202-4.e1. Epub 2012 Sep 10.

Division of Endocrinology, Children's Hospital Boston, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1016/j.jpeds.2012.07.055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3524393PMC
January 2013

ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.

Hum Mutat 2012 Dec 13;33(12):1626-9. Epub 2012 Aug 13.

Section of Genetics, Department of Pediatrics, University of California-Davis, Sacramento, CA 95817, USA.

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http://dx.doi.org/10.1002/humu.22166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3495992PMC
December 2012

Oculo-ectodermal syndrome: report of a case with mosaicism for a deletion on Xq12.

Am J Med Genet A 2011 Dec 14;155A(12):3122-4. Epub 2011 Oct 14.

Division of Genetics, Department of Pediatrics, Baystate Medical Center, Springfield, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.34294DOI Listing
December 2011

Audiologic findings in Saethre-Chotzen syndrome.

Plast Reconstr Surg 2011 May;127(5):2014-20

Department of Plastic and Oral Surgery, Children's Hospital Boston, Boston, Mass. 02115, USA.

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http://dx.doi.org/10.1097/PRS.0b013e31820cf16aDOI Listing
May 2011

FOXE3 plays a significant role in autosomal recessive microphthalmia.

Am J Med Genet A 2010 Mar;152A(3):582-90

Department of Pediatrics and Children's Research Institute at the Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, Wisconsin 53226, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33257
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.33257DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2998041PMC
March 2010

Cleft palate in Pfeiffer syndrome.

J Craniofac Surg 2009 Sep;20(5):1375-7

Department of Genetics, Children's Hospital Boston and Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA.

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http://dx.doi.org/10.1097/SCS.0b013e3181ae42e4DOI Listing
September 2009

The frequency of palatal anomalies in Saethre-Chotzen syndrome.

Cleft Palate Craniofac J 2009 May 28;46(3):280-4. Epub 2008 Sep 28.

Division of Genetics, Department of Medicine, Harvard Medical School, Children's Hosptial, Boston, Massachusets, USA.

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http://dx.doi.org/10.1597/08-088.1DOI Listing
May 2009

Mitral valve prolapse in Marfan syndrome: an old topic revisited.

Echocardiography 2009 Apr 24;26(4):357-64. Epub 2008 Nov 24.

Cardiology Division, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1111/j.1540-8175.2008.00825.xDOI Listing
April 2009

A tribute to Lewis B. Holmes: mentor and scholar.

Birth Defects Res A Clin Mol Teratol 2009 Jan;85(1):1-5

Division of Genetics, Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1002/bdra.20493DOI Listing
January 2009

Biomarkers of alcohol use in pregnancy.

Alcohol Res Health 2004-2005;28(1):38-43

Department of Pediatrics, Case Western Reserve University, Rainbow Babies and Children's Hospital, University Hospitals of Cleveland, Cleveland, Ohio, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6601656PMC
December 2008

Alcohol dehydrogenase 1B genotype and fetal alcohol syndrome: a HuGE minireview.

Am J Obstet Gynecol 2007 Jul;197(1):12-25

National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00029378070026
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http://dx.doi.org/10.1016/j.ajog.2007.02.028DOI Listing
July 2007

Bupropion in pregnancy and the prevalence of congenital malformations.

Pharmacoepidemiol Drug Saf 2007 May;16(5):474-84

i3 Drug Safety, Epidemiology, Auburndale, MA 02466, USA.

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http://dx.doi.org/10.1002/pds.1296DOI Listing
May 2007

Patients with Ehlers Danlos syndrome and CRPS: a possible association?

Pain 2006 Jul 4;123(1-2):204-9. Epub 2006 Apr 4.

Genetics and Teratology Unit, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1016/j.pain.2006.02.022DOI Listing
July 2006

Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 36-2004. A 23-day-old infant with hypospadias and failure to thrive.

N Engl J Med 2004 Nov;351(22):2319-26

Department of Medical Genetics, Massachusetts General Hospital, Boston, USA.

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http://dx.doi.org/10.1056/NEJMcpc049028DOI Listing
November 2004

Recognition of facial features of fetal alcohol syndrome in the newborn.

Am J Med Genet C Semin Med Genet 2004 May;127C(1):21-7

Genetics and Teratology Unit, Massachusetts General Hospital, 55 Fruit Street, Warren 901, Boston, MA 02114, USA.

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http://dx.doi.org/10.1002/ajmg.c.30012DOI Listing
May 2004

Alcohol dehydrogenase 2 genotypes, maternal alcohol use, and infant outcome.

J Pediatr 2002 Dec;141(6):780-5

Genetics and Teratology Unit, Pediatric Service, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1067/mpd.2002.128112DOI Listing
December 2002