Publications by authors named "David A Sweetser"

33Publications

A retrospective study of adult patients with noncirrhotic hyperammonemia.

J Inherit Metab Dis 2020 Jul 26. Epub 2020 Jul 26.

Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/jimd.12292DOI Listing
July 2020

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Authors:
Laura Castilla-Vallmanya Kaja K Selmer Clémantine Dimartino Raquel Rabionet Bernardo Blanco-Sánchez Sandra Yang Margot R F Reijnders Antonie J van Essen Myriam Oufadem Magnus D Vigeland Barbro Stadheim Gunnar Houge Helen Cox Helen Kingston Jill Clayton-Smith Jeffrey W Innis Maria Iascone Anna Cereda Sara Gabbiadini Wendy K Chung Victoria Sanders Joel Charrow Emily Bryant John Millichap Antonio Vitobello Christel Thauvin Frederic Tran Mau-Them Laurence Faivre Gaetan Lesca Audrey Labalme Christelle Rougeot Nicolas Chatron Damien Sanlaville Katherine M Christensen Amelia Kirby Raymond Lewandowski Rachel Gannaway Maha Aly Anna Lehman Lorne Clarke Luitgard Graul-Neumann Christiane Zweier Davor Lessel Bernarda Lozic Ingvild Aukrust Ryan Peretz Robert Stratton Thomas Smol Anne Dieux-Coëslier Joanna Meira Elizabeth Wohler Nara Sobreira Erin M Beaver Jennifer Heeley Lauren C Briere Frances A High David A Sweetser Melissa A Walker Catherine E Keegan Parul Jayakar Marwan Shinawi Wilhelmina S Kerstjens-Frederikse Dawn L Earl Victoria M Siu Emma Reesor Tony Yao Robert A Hegele Olena M Vaske Shannon Rego Kevin A Shapiro Brian Wong Michael J Gambello Marie McDonald Danielle Karlowicz Roberto Colombo Alessandro Serretti Lynn Pais Anne O'Donnell-Luria Alison Wray Simon Sadedin Belinda Chong Tiong Y Tan John Christodoulou Susan M White Anne Slavotinek Deborah Barbouth Dayna Morel Swols Mélanie Parisot Christine Bole-Feysot Patrick Nitschké Véronique Pingault Arnold Munnich Megan T Cho Valérie Cormier-Daire Susanna Balcells Stanislas Lyonnet Daniel Grinberg Jeanne Amiel Roser Urreizti Christopher T Gordon

Genet Med 2020 Jul 7;22(7):1215-1226. Epub 2020 May 7.

Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1038/s41436-020-0792-7DOI Listing
July 2020

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.

N Engl J Med 2018 11 10;379(22):2131-2139. Epub 2018 Oct 10.

From Harvard Medical School (K.S., C.E., I.S.K., J.L., A.T.M., D.A.S.), Brigham and Women's Hospital (J.L.), and Massachusetts General Hospital (D.A.S.) - all in Boston; the National Institutes of Health Clinical Center (D.R.A., W.A.G., J.J.M., C.J.T.) and the National Human Genome Research Institute (A.L.W.), Bethesda, and the University of Maryland, College Park (A.M.C.-J., B.K., L.P.) - all in Maryland; Baylor College of Medicine, Houston (C.A.B., H.J.B., C.M.E., B.H.L., X.L., M.F.W., S.Y.); Stanford University, Stanford (J.A.B., C.R., M.T.W., E.A.A.), and the University of California, Los Angeles, Los Angeles (S.F.N., C.G.S.P.) - both in California; Vanderbilt University, Nashville (R.H., J.A.P.); HudsonAlpha Institute for Biotechnology, Huntsville, AL (H.J.J., E.A.W.); Oregon Health and Science University, Portland (D.M.K.); the Pacific Northwest National Laboratory, Richland, WA (T.O.M.); the University of Oregon, Eugene (J.H.P., M.W.); and Duke University, Durham, NC (V.S., N.M.W.).

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http://www.nejm.org/doi/10.1056/NEJMoa1714458
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http://dx.doi.org/10.1056/NEJMoa1714458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481166PMC
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

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

Case 34-2016. A 17-Year-Old Boy with Myopia and Craniofacial and Skeletal Abnormalities.

N Engl J Med 2016 11;375(19):1879-1890

From the Departments of Pediatrics (D.A.S., A.E.L.), Oral and Maxillofacial Surgery (M.J.T.), and Radiology (S.J.W.), Massachusetts General Hospital, the Departments of Pediatrics (D.A.S., A.E.L.), Ophthalmology (T.C.C.), and Radiology (S.J.W.), Harvard Medical School, the Department of Oral and Maxillofacial Surgery, Harvard School of Dental Medicine (M.J.T.), and the Department of Ophthalmology, Massachusetts Eye and Ear Infirmary (T.C.C.) - all in Boston.

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http://dx.doi.org/10.1056/NEJMcpc1610096DOI Listing
November 2016

TLE4 regulation of wnt-mediated inflammation underlies its role as a tumor suppressor in myeloid leukemia.

Leuk Res 2016 09 21;48:46-56. Epub 2016 Jul 21.

Department of Pediatrics, Divisions of Pediatric Hematology/Oncology and Medical Genetics, Massachusetts General Hospital, Boston, MA 02114, United States. Electronic address:

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http://dx.doi.org/10.1016/j.leukres.2016.07.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5266616PMC
September 2016

Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease.

J Child Neurol 2016 08 19;31(9):1127-37. Epub 2016 Apr 19.

Department of Neurology, Division of Child Neurology, Massachusetts General Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1177/0883073816643402DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4981184PMC
August 2016

IQSEC2 and X-linked syndromal intellectual disability.

Psychiatr Genet 2016 Jun;26(3):101-8

aDepartment of Psychiatry, Yale University School of Medicine, New Haven, Connecticut bLurie Center for Autism, Massachusetts General Hospital cDivision of Medical Genetics and Metabolism, MassGeneral Hospital for Children, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1097/YPG.0000000000000128DOI Listing
June 2016

Tle1 tumor suppressor negatively regulates inflammation in vivo and modulates NF-κB inflammatory pathway.

Proc Natl Acad Sci U S A 2016 Feb 1;113(7):1871-6. Epub 2016 Feb 1.

Department of Pediatrics, Divisions of Medical Genetics and Pediatric Hematology/Oncology, MassGeneral Hospital for Children, Center for Human Genetics Research and MGH Cancer Center, Massachusetts General Hospital, Boston, MA 02114;

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http://dx.doi.org/10.1073/pnas.1511380113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4763742PMC
February 2016

Training the Future Leaders in Personalized Medicine.

J Pers Med 2016 Jan 7;6(1). Epub 2016 Jan 7.

Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA.

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http://dx.doi.org/10.3390/jpm6010001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4810380PMC
January 2016

The corepressor Tle4 is a novel regulator of murine hematopoiesis and bone development.

PLoS One 2014 25;9(8):e105557. Epub 2014 Aug 25.

Department of Pediatrics, Divisions of Pediatric Hematology/Oncology and Medical Genetics, Massachusetts General Hospital, Boston, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0105557PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4143290PMC
November 2015

Discovering chemical modifiers of oncogene-regulated hematopoietic differentiation.

Nat Chem Biol 2009 Apr 26;5(4):236-43. Epub 2009 Jan 26.

Developmental Biology Laboratory, Cardiovascular Research Center, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA.

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http://dx.doi.org/10.1038/nchembio.147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2658727PMC
April 2009

Loss of TLE1 and TLE4 from the del(9q) commonly deleted region in AML cooperates with AML1-ETO to affect myeloid cell proliferation and survival.

Blood 2008 Apr 7;111(8):4338-47. Epub 2008 Feb 7.

Department of Pediatrics, Division of Pediatric Hematology/Oncology, Massachusetts General Hospital, and Harvard Medical School, Boston, MA 02114, USA.

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http://dx.doi.org/10.1182/blood-2007-07-103291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2288729PMC
April 2008

Adrenocorticotropin-secreting pancreatoblastoma.

J Pediatr Endocrinol Metab 2007 May;20(5):639-42

Pediatric Endocrine, Swedish Physician Division 1101 Madison, Suite # 800, Seattle, WA 98104, USA.

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http://www.degruyter.com/dg/viewarticle.fullcontentlink:pdfe
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http://dx.doi.org/10.1515/jpem.2007.20.5.639DOI Listing
May 2007

Activating mutations of RTK/ras signal transduction pathway in pediatric acute myeloid leukemia.

Blood 2003 Aug 17;102(4):1474-9. Epub 2003 Apr 17.

Fred Hutchinson Cancer Research Center, Division of Clinical Research, D4-100, 1100 Fairview Ave N, PO Box 19024, Seattle, WA 98109-1024, USA.

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http://dx.doi.org/10.1182/blood-2003-01-0137DOI Listing
August 2003