Margaret Au

Margaret Au

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Margaret Au

Margaret Au

Publications by authors named "Margaret Au"

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A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.

Neurogenetics 2019 Aug 30;20(3):129-143. Epub 2019 Apr 30.

Institute for Molecular Virology, Department of Molecular Microbiology and Immunology, Saint Louis University School of Medicine, E. A. Doisy Research Center, 6th Floor, St. Louis, MO, 63104, USA.

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http://dx.doi.org/10.1007/s10048-019-00578-1DOI Listing
August 2019

Non-Cystic Fibrosis-Related Meconium Ileus: GUCY2C-Associated Disease Discovered through Rapid Neonatal Whole-Exome Sequencing.

J Pediatr 2019 Aug 10;211:207-210. Epub 2019 May 10.

Cedars-Sinai Medical Center, Los Angeles, CA. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2019.04.022DOI Listing
August 2019

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2019 Jun 29. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
June 2019

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 May 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
May 2019

mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei.

Ann Clin Transl Neurol 2018 Sep 14;5(9):1128-1133. Epub 2018 Aug 14.

Department of Neurology Cedars-Sinai Medical Center Los Angeles California.

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http://dx.doi.org/10.1002/acn3.598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144452PMC
September 2018

Primary Care Physicians' Decision Making Regarding Initial Oncology Referral for Adolescents and Young Adults With Cancer.

J Adolesc Health 2018 02 13;62(2):176-183. Epub 2017 Dec 13.

Departments of Medical and Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts. Electronic address:

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http://dx.doi.org/10.1016/j.jadohealth.2017.09.006DOI Listing
February 2018

Problem Drug-related Behavior and Discontinuation of Opioids Following the Introduction of an Opioid Management Program.

J Am Board Fam Med 2016 11;29(6):718-726

From the Department of Family Medicine, University of Washington School of Medicine, Seattle (LAG, ECT, MAA, L-MB, RR); and Providence St. Peter Family Medicine, Olympia, WA (DS).

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http://dx.doi.org/10.3122/jabfm.2016.06.160073DOI Listing
November 2016

A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families.

J Mol Diagn 2016 07 4;18(4):480-93. Epub 2016 May 4.

Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California; Department of Pathology, USC Roski Eye Institute, University of Southern California, Los Angeles, California. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2016.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820122PMC
July 2016

Effects of screening on radical prostatectomy efficacy: the prostate cancer intervention versus observation trial.

J Natl Cancer Inst 2013 Apr 14;105(8):546-50. Epub 2013 Feb 14.

Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109-1024, USA.

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http://dx.doi.org/10.1093/jnci/djt017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3691943PMC
April 2013

When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).

J Clin Endocrinol Metab 2012 Sep 28;97(9):E1798-807. Epub 2012 Jun 28.

Harvard Center for Reproductive Sciences and Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, 55 Fruit Street, BHX 504, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1210/jc.2012-1264DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3431570PMC
September 2012

Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications.

J Clin Endocrinol Metab 2012 Jan 9;97(1):E136-44. Epub 2011 Nov 9.

Harvard Reproductive Endocrine Sciences Center, Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Bartlett Hall Extension, 5th Floor, 55 Fruit Street, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1210/jc.2011-2041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3251934PMC
January 2012

Genetic counseling for isolated GnRH deficiency.

Mol Cell Endocrinol 2011 Oct 1;346(1-2):102-9. Epub 2011 Jun 1.

Harvard Reproductive Endocrine Sciences Center & Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S030372071100296
Publisher Site
http://dx.doi.org/10.1016/j.mce.2011.05.041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3185214PMC
October 2011

Bronchiolitis obliterans syndrome epidemiology after allogeneic hematopoietic cell transplantation.

Biol Blood Marrow Transplant 2011 Jul 30;17(7):1072-8. Epub 2010 Nov 30.

John A. Burns School of Medicine, University of Hawaii, Honolulu, Hawaii, USA.

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http://dx.doi.org/10.1016/j.bbmt.2010.11.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3061253PMC
July 2011

Evaluating the impact of antithymocyte globulin on lung function at 1 year after allogeneic stem cell transplantation.

Biol Blood Marrow Transplant 2011 May 22;17(5):703-9. Epub 2010 Aug 22.

Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.

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http://dx.doi.org/10.1016/j.bbmt.2010.08.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3224742PMC
May 2011

The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations.

Endocr Rev 2011 Apr 29;32(2):225-46. Epub 2010 Oct 29.

Harvard Center for Reproductive Endocrine Sciences, Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, 02114, USA.

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http://dx.doi.org/10.1210/er.2010-0007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3365793PMC
April 2011

Expanding the phenotype and genotype of female GnRH deficiency.

J Clin Endocrinol Metab 2011 Mar 5;96(3):E566-76. Epub 2011 Jan 5.

Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Reproductive Endocrine Sciences Center, Harvard Medical School, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1210/jc.2010-2292DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3047229PMC
March 2011

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

Proc Natl Acad Sci U S A 2010 Aug 9;107(34):15140-4. Epub 2010 Aug 9.

Harvard Reproductive Endocrine Sciences Center and the Reproductive Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.

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http://dx.doi.org/10.1073/pnas.1009622107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2930591PMC
August 2010

Congenital idiopathic hypogonadotropic hypogonadism: evidence of defects in the hypothalamus, pituitary, and testes.

J Clin Endocrinol Metab 2010 Jun 9;95(6):3019-27. Epub 2010 Apr 9.

Harvard Reproductive Endocrine Sciences Center and the Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1210/jc.2009-2582DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2902061PMC
June 2010

Influence of pretransplantation restrictive lung disease on allogeneic hematopoietic cell transplantation outcomes.

Biol Blood Marrow Transplant 2010 Feb 23;16(2):199-206. Epub 2009 Sep 23.

Group of Research in Injury and Immune Response (LIF), Municipal Institute of Medical Research (IMIM), CEXS-Pompeu Fabra University, CIBER of Respiratory Diseases, and Respiratory Department, Hospital del Mar, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.bbmt.2009.09.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2819577PMC
February 2010

Familial risk for chronic disease and intent to share family history with a health care provider among urban Appalachian women, southwestern Ohio, 2007.

Prev Chronic Dis 2010 Jan 15;7(1):A07. Epub 2009 Dec 15.

Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH 45229, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2811502PMC
January 2010

Decisions to seek healthcare based on family health history among urban Appalachian women.

J Genet Couns 2009 Dec 8;18(6):534-50. Epub 2009 Oct 8.

College of Medicine, University of Cincinnati, Cincinnati, OH, USA.

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http://link.springer.com/content/pdf/10.1007%2Fs10897-009-92
Web Search
http://link.springer.com/10.1007/s10897-009-9236-x
Publisher Site
http://dx.doi.org/10.1007/s10897-009-9236-xDOI Listing
December 2009