Publications by authors named "Eden Haverfield"

20Publications

Secondary findings on virtual panels: opportunities, challenges, and potential for preventive medicine.

Genet Med 2019 05 24;21(5):1250-1251. Epub 2018 Sep 24.

Invitae, San Francisco, CA, USA.

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http://dx.doi.org/10.1038/s41436-018-0302-3DOI Listing
May 2019

Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1.

Am J Med Genet A 2018 09 21;176(9):2024-2027. Epub 2018 Sep 21.

Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina School of Medicine, Chapel Hill, North Carolina.

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http://doi.wiley.com/10.1002/ajmg.a.40432
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http://dx.doi.org/10.1002/ajmg.a.40432DOI Listing
September 2018

FTO variant associated with malformation syndrome.

Am J Med Genet A 2016 Apr 24;170A(4):1023-8. Epub 2015 Dec 24.

Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, New York.

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http://dx.doi.org/10.1002/ajmg.a.37515DOI Listing
April 2016

Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing.

J Genet Couns 2016 Apr 19;25(2):337-43. Epub 2015 Aug 19.

Center for Applied Genomics & Precision Medicine, Duke University, 304 Research Drive, Box 90141, Durham, NC, 27708, USA.

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http://dx.doi.org/10.1007/s10897-015-9876-yDOI Listing
April 2016

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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https://clinicforspecialchildren.org/wp-content/uploads/2015
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

Whole-Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death.

Pediatr Dev Pathol 2015 Jul-Aug;18(4):324-6. Epub 2015 Apr 29.

3 Department of Pediatrics and Medicine, Columbia University Medical Center, 1150 St Nicholas Avenue, Room 620, New York, NY 10032, USA.

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http://dx.doi.org/10.2350/14-08-1543-CR.1DOI Listing
September 2015

Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing.

Clin Case Rep 2015 Apr 2;3(4):237-9. Epub 2015 Feb 2.

Columbia University Medical Center New York, New York.

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http://dx.doi.org/10.1002/ccr3.205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4405308PMC
April 2015

Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy.

J Inherit Metab Dis 2015 Sep 3;38(5):941-8. Epub 2015 Mar 3.

Departments of Pediatrics and Medicine, Columbia University Medical Center, 1150 St. Nicholas Avenue, Room 620, New York, NY, 10032, USA.

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http://dx.doi.org/10.1007/s10545-015-9824-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4919120PMC
September 2015

A pharmacogenetic study of vorinostat glucuronidation.

Pharmacogenet Genomics 2010 Oct;20(10):638-41

Department of Medicine, University of Chicago, Chicago, Illinois 60637, USA.

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http://dx.doi.org/10.1097/FPC.0b013e32833e1b37DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3636562PMC
October 2010

Comparison of performance of three commercial platforms for warfarin sensitivity genotyping.

Clin Chim Acta 2009 Aug 21;406(1-2):143-7. Epub 2009 Jun 21.

Department of Pathology, Pritzker School of Medicine, The University of Chicago, 5481 S. Maryland Avenue, Chicago, IL 60637, United States.

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http://dx.doi.org/10.1016/j.cca.2009.06.015DOI Listing
August 2009

Genetic evidence in support of a shared Eurasian-North African dairying origin.

Hum Genet 2005 Jun 2;117(1):34-42. Epub 2005 Apr 2.

Institute of Biological Anthropology, University of Oxford, UK.

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http://dx.doi.org/10.1007/s00439-005-1266-3DOI Listing
June 2005

UGT1A1 variation and gallstone formation in sickle cell disease.

Blood 2005 Feb 23;105(3):968-72. Epub 2004 Sep 23.

Institute of Biological Anthropology and the Weatherall Institute of Molecular Medicine, University of Oxford, United Kingdom.

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http://dx.doi.org/10.1182/blood-2004-02-0521DOI Listing
February 2005