Loren Peña

Loren Peña

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Loren Peña

Loren Peña

Publications by authors named "Loren Peña"

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38Publications

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The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.

Clin Genet 2019 Aug 25. Epub 2019 Aug 25.

Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina.

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http://dx.doi.org/10.1111/cge.13635DOI 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

Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?

J Genet Couns 2018 08 2;27(4):935-946. Epub 2018 Jan 2.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.

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http://dx.doi.org/10.1007/s10897-017-0193-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028305PMC
August 2018

Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.

J Genet Couns 2016 10 12;25(5):1019-31. Epub 2016 Feb 12.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Box 103757, Durham, NC, 27710, USA.

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http://dx.doi.org/10.1007/s10897-016-9933-1DOI Listing
October 2016

Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease.

JIMD Rep 2015 13;23:45-54. Epub 2015 Mar 13.

Division of Medical Genetics, Department of Pediatrics, Duke Medicine, 905 S. LaSalle St., GSRB1, Box 103856, Durham, NC, 27710, USA,

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http://dx.doi.org/10.1007/8904_2015_426DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4484900PMC
June 2015

Premature pubarche in children with Pompe disease.

J Pediatr 2015 Apr 14;166(4):1075-8.e1. Epub 2015 Feb 14.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2014.12.074DOI Listing
April 2015

Survey of health status and complications among propionic acidemia patients.

Am J Med Genet A 2012 Jul 7;158A(7):1641-6. Epub 2012 Jun 7.

University of Illinois at Chicago, Chicago, Illinois 60612, USA.

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http://dx.doi.org/10.1002/ajmg.a.35387DOI Listing
July 2012

Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center's experience.

Genet Med 2012 Mar 5;14(3):342-7. Epub 2012 Jan 5.

Division of Genetics, Birth Defects and Metabolism, Children's Memorial Hospital, Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.

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http://dx.doi.org/10.1038/gim.2011.9DOI Listing
March 2012

Fanconi-Bickel syndrome: report of life history and successful pregnancy in an affected patient.

Am J Med Genet A 2011 Feb 13;155A(2):415-7. Epub 2011 Jan 13.

The University of Chicago, Chicago, Illinois, USA.

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http://dx.doi.org/10.1002/ajmg.a.33822DOI Listing
February 2011

Episodic myoglobinuria in a primary gamma-sarcoglycanopathy.

Neuromuscul Disord 2010 May 30;20(5):337-9. Epub 2010 Mar 30.

Department of Human Genetics, The University of Chicago, Chicago, IL, USA.

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http://dx.doi.org/10.1016/j.nmd.2010.02.015DOI Listing
May 2010

Recurrent Anion Gap Acidosis: An Unusual Presentation of X-Linked Adrenoleukodystrophy in a Five-year-old Male.

Clin Pediatr Endocrinol 2010 Jan 11;19(1):15-8. Epub 2010 Mar 11.

Section of General Pediatrics, University of Chicago, Pritzker School of Medicine, Chicago, USA.

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http://dx.doi.org/10.1297/cpe.19.15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3687615PMC
January 2010

Two Children with macrocephaly, developmental delay, and PTEN mutation.

Clin Pediatr (Phila) 2009 Jan 14;48(1):89-92. Epub 2008 Jul 14.

Department of Pediatrics, University of Chicago, Illinois, USA. uchicago.edu

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http://journals.sagepub.com/doi/10.1177/0009922808321679
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http://dx.doi.org/10.1177/0009922808321679DOI Listing
January 2009

Long-term effect of interferon on keratinocytes that maintain human papillomavirus type 31.

J Virol 2002 Sep;76(17):8864-74

Department of Microbiology-Immunology, The Fineberg Medical School, Northwestern University, Chicago, Illinois 60611, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC136980PMC
http://dx.doi.org/10.1128/jvi.76.17.8864-8874.2002DOI Listing
September 2002