Allyn McConkie-Rosell

Allyn McConkie-Rosell

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Allyn McConkie-Rosell

Allyn McConkie-Rosell

Publications by authors named "Allyn McConkie-Rosell"

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39Publications

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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

INTRODUCTION TO EXPLORING THE EXOME SPECIAL ISSUE.

J Genet Couns 2019 Apr;28(2):181

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

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http://dx.doi.org/10.1002/jgc4.1113DOI Listing
April 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

Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review.

Am J Med Genet B Neuropsychiatr Genet 2018 06 27;177(4):426-433. Epub 2018 Apr 27.

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

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http://dx.doi.org/10.1002/ajmg.b.32631DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5980735PMC
June 2018

The importance of managing the patient and not the gene: expanded phenotype of -associated arthrogryposis.

Cold Spring Harb Mol Case Stud 2017 Nov 21;3(6). Epub 2017 Nov 21.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.

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http://molecularcasestudies.cshlp.org/lookup/doi/10.1101/mcs
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http://dx.doi.org/10.1101/mcs.a002063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701308PMC
November 2017

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

De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.

Cold Spring Harb Mol Case Stud 2016 Jan;2(1):a000661

Department of Pediatrics, Columbia University Medical Center, New York, New York 10032, USA;; Department of Medicine, Columbia University Medical Center, New York, New York 10032, USA.

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http://dx.doi.org/10.1101/mcs.a000661DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4849844PMC
January 2016

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

Hum Mutat 2013 Jun 12;34(6):801-11. Epub 2013 Apr 12.

Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://doi.wiley.com/10.1002/humu.22313
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http://dx.doi.org/10.1002/humu.22313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663886PMC
June 2013

Influence of genetic risk information on parental role identity in adolescent girls and young women from families with fragile X syndrome.

J Genet Couns 2012 Feb 9;21(1):59-71. Epub 2011 Aug 9.

Division of Medical Genetics, Department of Pediatrics, Duke University Health System, Durham, NC 27710, USA.

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http://dx.doi.org/10.1007/s10897-011-9391-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3506010PMC
February 2012

Communication of genetic risk information to daughters in families with fragile X syndrome: the parent's perspective.

J Genet Couns 2011 Feb 28;20(1):58-69. Epub 2010 Sep 28.

Division of Medical Genetics, Department of Pediatrics, Duke University Health System, Box 103857, Durham, NC 27710, USA.

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http://dx.doi.org/10.1007/s10897-010-9326-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3508506PMC
February 2011

Genetic risk communication: experiences of adolescent girls and young women from families with fragile X syndrome.

J Genet Couns 2009 Aug 11;18(4):313-25. Epub 2009 Mar 11.

Division of Medical Genetics, Duke University Health System, Durham, NC 27710, USA.

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http://dx.doi.org/10.1007/s10897-009-9215-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2756689PMC
August 2009

Living with genetic risk: effect on adolescent self-concept.

Am J Med Genet C Semin Med Genet 2008 Feb;148C(1):56-69

Division of Medical Genetics, Department of Pediatrics, Duke University Health System, Durham, NC 27710, USA.

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http://doi.wiley.com/10.1002/ajmg.c.30161
Publisher Site
http://dx.doi.org/10.1002/ajmg.c.30161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2756030PMC
February 2008

The FMR1 premutation and reproduction.

Fertil Steril 2007 Mar 30;87(3):456-65. Epub 2006 Oct 30.

Intramural Research Program, Section on Women's Health Research, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1103, USA.

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http://dx.doi.org/10.1016/j.fertnstert.2006.09.004DOI Listing
March 2007

Arithmetic difficulties in females with the fragile X premutation.

Am J Med Genet A 2006 Apr;140(7):665-72

Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.

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http://dx.doi.org/10.1002/ajmg.a.31082DOI Listing
April 2006

"Family matters": a conceptual framework for genetic testing in children.

J Genet Couns 2004 Feb;13(1):9-29

Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.

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February 2004

Editorial Notes.

J Genet Couns 2003 Feb;12(1):1-3

Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina,

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http://dx.doi.org/10.1023/A:1021404732760DOI Listing
February 2003

Editorial.

J Genet Couns 2002 Aug;11(4):237-9

Duke University Medical Center, Durham, North Carolina,

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http://dx.doi.org/10.1023/A:1016322430535DOI Listing
August 2002

Carrier testing in fragile X syndrome: when to tell and test.

Am J Med Genet 2002 Jun;110(1):36-44

Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.

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http://dx.doi.org/10.1002/ajmg.10396DOI Listing
June 2002

Instructions to Contributors.

J Genet Couns 2002 Apr;11(2):149-53

Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina,

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http://dx.doi.org/10.1023/A:1014549622661DOI Listing
April 2002

Editorial Introduction.

J Genet Couns 2002 Feb;11(1):1-3

Duke University Medical Center, Durham, North Carolina,

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http://dx.doi.org/10.1023/A:1013889613786DOI Listing
February 2002