Kristin G Monaghan

Kristin G Monaghan

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Kristin G Monaghan

Kristin G Monaghan

Publications by authors named "Kristin G Monaghan"

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56Publications

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Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.

Am J Hum Genet 2019 Sep 15;105(3):509-525. Epub 2019 Aug 15.

Institute of Genetics and Molecular and Cellular Biology, Illkirch, France; French National Center for Scientific Research, UMR7104, 67400 Illkirch, France; National Institute of Health and Medical Research U964, 67400 Illkirch, France; University of Strasbourg, 67081 Illkirch, France; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731366PMC
September 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 Jul 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature.

Child Neurol Open 2017 Jan-Dec;4:2329048X17733214. Epub 2017 Oct 8.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA.

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http://dx.doi.org/10.1177/2329048X17733214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5638153PMC
October 2017

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.

Am J Hum Genet 2016 09 18;99(3):728-734. Epub 2016 Aug 18.

Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA; Department of Medicine, Columbia University Medical Center, New York, NY 10032, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.06.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011042PMC
September 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

Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.

J Med Genet 2015 Sep 16;52(9):627-35. Epub 2015 Jul 16.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103140DOI Listing
September 2015

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

Post-transplant course of hepatitis C after living donor liver transplantation in association with polymorphisms near IFNL3.

J Interferon Cytokine Res 2015 Apr 24;35(4):313-6. Epub 2014 Oct 24.

1 Medical Genetics, Henry Ford Health System, Detroit, Michigan.

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http://dx.doi.org/10.1089/jir.2014.0111DOI Listing
April 2015

ACMG position statement on prenatal/preconception expanded carrier screening.

Genet Med 2013 Jun 25;15(6):482-3. Epub 2013 Apr 25.

Division of Medical Genetics, UCLA School of Medicine, Los Angeles, California, USA.

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http://dx.doi.org/10.1038/gim.2013.47DOI Listing
June 2013

ACMG Policy Statement. Risk categorization for oversight of laboratory-developed tests for inherited conditions.

Genet Med 2013 Apr 24;15(4):314-5. Epub 2013 Jan 24.

Department of Medical Genetics, Henry Ford Health System, Detroit, Michigan, USA.

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http://dx.doi.org/10.1038/gim.2012.178DOI Listing
April 2013

Disparity between tissue and serum calcitonin and carcinoembryonic antigen in a patient with medullary thyroid carcinoma.

Endocrine 2011 Apr 18;39(2):148-52. Epub 2011 Jan 18.

Department of Pathology and Laboratory Medicine, University of Kentucky Medical Center, 800 Rose Street, Lexington, KY 40536, USA.

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http://dx.doi.org/10.1007/s12020-010-9433-2DOI Listing
April 2011

The future is now: carrier screening for all populations.

Genet Med 2008 Jan;10(1):33-6

Department of Pediatrics, University of Medicine and Dentistry of New Jersey - New Jersey Medical School, Newark, New Jersey, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31815f5934DOI Listing
January 2008

Carrier screening in individuals of Ashkenazi Jewish descent.

Genet Med 2008 Jan;10(1):54-6

Albert Einstein College of Medicine, Bronx, New York, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31815f247cDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110977PMC
January 2008

Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population.

Genet Med 2008 Jan;10(1):57-72

Department of Medical Genetics, Henry Ford Hospital, Detroit, Michigan, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31815f6eacDOI Listing
January 2008

Cystic Fibrosis testing among Arab-Americans.

Genet Med 2006 Apr;8(4):255-8

Medical Genetics, Henry Ford Hospital, Detroit, MI 48202, USA.

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http://dx.doi.org/10.109701.gim.0000214453.74456.f3DOI Listing
April 2006

Preconception and prenatal cystic fibrosis carrier screening of African Americans reveals unanticipated frequencies for specific mutations.

Genet Med 2004 May-Jun;6(3):141-4

Department of Medical Genetics, Henry Ford Hospital, 2799 West Grand Boulevard, CFP 466, Detroit, MI 48202, USA.

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http://dx.doi.org/10.109701.GIM.0000127269.42279.83DOI Listing
February 2005

Diagnostic testing for Prader-Willi syndrome and Angelman syndrome: a cost comparison.

Genet Med 2002 Nov-Dec;4(6):448-50

Department of Medical Genetics, Henry Ford Hospital, Detroit, Michigan 48202, USA.

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http://dx.doi.org/10.1097/01.GIM.0000035619.13886.AEDOI Listing
May 2003