Publications by authors named "Allyn McConkie-Rosell"

42Publications

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

Am J Hum Genet 2020 06 21;106(6):830-845. Epub 2020 May 21.

Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, 44000 Nantes, France; Centre Hospitalier Universitaire Toulouse, Service de Génétique Médicale, 31000 Toulouse, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.04.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7273536PMC
June 2020

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses.

Genet Med 2020 Jul 5;22(7):1269-1275. Epub 2020 May 5.

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

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http://dx.doi.org/10.1038/s41436-020-0781-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7335342PMC
July 2020

INTRODUCTION TO EXPLORING THE EXOME SPECIAL ISSUE.

J Genet Couns 2019 04;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

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

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

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

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

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

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
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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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http://dx.doi.org/10.1023/b:jogc.0000013379.90587.efDOI Listing
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