Jessica L Waxler

Jessica L Waxler

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Jessica L Waxler

Jessica L Waxler

Publications by authors named "Jessica L Waxler"

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Glucose and lipid metabolism, bone density, and body composition in individuals with Williams syndrome.

Clin Endocrinol (Oxf) 2018 11 18;89(5):596-604. Epub 2018 Sep 18.

Program in Nutritional Metabolism, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.

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http://doi.wiley.com/10.1111/cen.13829
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http://dx.doi.org/10.1111/cen.13829DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6524786PMC
November 2018

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Am J Hum Genet 2018 05 12;102(5):995-1007. Epub 2018 Apr 12.

Centre de Génétique Médicale, Centre de Référence "Déficiences Intellectuelles de causes rares," CHU de Dijon Bourgogne, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986694PMC
May 2018

Brief Report: Major Depressive Disorder with Psychotic Features in Williams Syndrome: A Case Series.

J Autism Dev Disord 2018 03;48(3):947-952

Lurie Center for Autism, Massachusetts General Hospital, One Maguire Road, Lexington, MA, 02421-3114, USA.

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http://dx.doi.org/10.1007/s10803-017-3384-xDOI Listing
March 2018

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Authors:
Daniela A Braun Jia Rao Geraldine Mollet David Schapiro Marie-Claire Daugeron Weizhen Tan Olivier Gribouval Olivia Boyer Patrick Revy Tilman Jobst-Schwan Johanna Magdalena Schmidt Jennifer A Lawson Denny Schanze Shazia Ashraf Jeremy F P Ullmann Charlotte A Hoogstraten Nathalie Boddaert Bruno Collinet Gaëlle Martin Dominique Liger Svjetlana Lovric Monica Furlano I Chiara Guerrera Oraly Sanchez-Ferras Jennifer F Hu Anne-Claire Boschat Sylvia Sanquer Björn Menten Sarah Vergult Nina De Rocker Merlin Airik Tobias Hermle Shirlee Shril Eugen Widmeier Heon Yung Gee Won-Il Choi Carolin E Sadowski Werner L Pabst Jillian K Warejko Ankana Daga Tamara Basta Verena Matejas Karin Scharmann Sandra D Kienast Babak Behnam Brendan Beeson Amber Begtrup Malcolm Bruce Gaik-Siew Ch'ng Shuan-Pei Lin Jui-Hsing Chang Chao-Huei Chen Megan T Cho Patrick M Gaffney Patrick E Gipson Chyong-Hsin Hsu Jameela A Kari Yu-Yuan Ke Cathy Kiraly-Borri Wai-Ming Lai Emmanuelle Lemyre Rebecca Okashah Littlejohn Amira Masri Mastaneh Moghtaderi Kazuyuki Nakamura Fatih Ozaltin Marleen Praet Chitra Prasad Agnieszka Prytula Elizabeth R Roeder Patrick Rump Rhonda E Schnur Takashi Shiihara Manish D Sinha Neveen A Soliman Kenza Soulami David A Sweetser Wen-Hui Tsai Jeng-Daw Tsai Rezan Topaloglu Udo Vester David H Viskochil Nithiwat Vatanavicharn Jessica L Waxler Klaas J Wierenga Matthias T F Wolf Sik-Nin Wong Sebastian A Leidel Gessica Truglio Peter C Dedon Annapurna Poduri Shrikant Mane Richard P Lifton Maxime Bouchard Peter Kannu David Chitayat Daniella Magen Bert Callewaert Herman van Tilbeurgh Martin Zenker Corinne Antignac Friedhelm Hildebrandt

Nat Genet 2017 Oct 14;49(10):1529-1538. Epub 2017 Aug 14.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://www.nature.com/doifinder/10.1038/ng.3933
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http://dx.doi.org/10.1038/ng.3933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819591PMC
October 2017

Altered body composition, lipedema, and decreased bone density in individuals with Williams syndrome: A preliminary report.

Eur J Med Genet 2017 05 27;60(5):250-256. Epub 2017 Feb 27.

Division of Endocrine, Department of Pediatrics, and Program in Nutritional Metabolism, Massachusetts General Hospital and Harvard Medical School, Boston, MA, United States.

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http://dx.doi.org/10.1016/j.ejmg.2017.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490490PMC
May 2017

Hypercalcemia in Patients with Williams-Beuren Syndrome.

J Pediatr 2016 Nov 26;178:254-260.e4. Epub 2016 Aug 26.

Department of Pediatrics, Washington University School of Medicine, St. Louis, MO; National Institutes of Health, National Heart, Lung, and Blood Institute, Bethesda, MD. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2016.08.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5085847PMC
November 2016

N-acetylcysteine for neuropsychiatric symptoms in a woman with Williams syndrome.

J Child Neurol 2014 Nov 5;29(11):NP135-8. Epub 2014 Jan 5.

Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA Lurie Center for Autism, Massachusetts General Hospital, Lexington, MA, USA Harvard Medical School, Boston, MA, USA Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA

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http://dx.doi.org/10.1177/0883073813512025DOI Listing
November 2014

Skin findings in Williams syndrome.

Am J Med Genet A 2014 Sep 11;164A(9):2217-25. Epub 2014 Jun 11.

Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.36628DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4134746PMC
September 2014

Hearing from parents: the impact of receiving the diagnosis of Williams syndrome in their child.

Am J Med Genet A 2013 Mar 7;161A(3):534-41. Epub 2013 Feb 7.

Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/ajmg.a.35789DOI Listing
March 2013

Impact of literacy and numeracy on motivation for behavior change after diabetes genetic risk testing.

Med Decis Making 2012 Jul-Aug;32(4):606-15. Epub 2012 Jan 12.

General Medicine Division, Massachusetts General Hospital, Boston, Massachusetts (JLV, KEO, JBM, RWG)

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http://journals.sagepub.com/doi/10.1177/0272989X11431608
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http://dx.doi.org/10.1177/0272989X11431608DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3683460PMC
November 2012

Williams syndrome: a multidisciplinary approach to care.

Pediatr Ann 2009 Aug;38(8):456-63

Williams Syndrome Clinic, Massachusetts General Hospital, and Department of Psychiatry, Harvard Medical School, Boston, MA 02114, USA.

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http://dx.doi.org/10.3928/00904481-20090723-10DOI Listing
August 2009