Publications by authors named "Paul R Mark"

15Publications

Lethal renal anomalies in a fetus with 21q22.11-q22.12 deletion.

Am J Med Genet A 2020 Dec 18;182(12):3060-3063. Epub 2020 Sep 18.

Division of Medical Genetics, Spectrum Health, Grand Rapids, Michigan, USA.

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http://dx.doi.org/10.1002/ajmg.a.61868DOI Listing
December 2020

SLC6A1 G443D associated with developmental delay and epilepsy.

Cold Spring Harb Mol Case Stud 2020 Aug 25;6(4). Epub 2020 Aug 25.

Spectrum Health Division of Medical Genetics, Grand Rapids, Michigan 49503, USA.

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http://dx.doi.org/10.1101/mcs.a005371DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7476406PMC
August 2020

Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.

Am J Med Genet A 2020 03 5;182(3):493-497. Epub 2020 Feb 5.

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.61484DOI Listing
March 2020

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 06 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships.

Am J Med Genet A 2019 03 24;179(3):373-380. Epub 2018 Dec 24.

Spectrum Health Medical Group, Department of Medical Genetics, Grand Rapids, Michigan.

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http://doi.wiley.com/10.1002/ajmg.a.61019
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http://dx.doi.org/10.1002/ajmg.a.61019DOI Listing
March 2019

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

N Engl J Med 2017 08;377(6):544-552

From the Divisions of Developmental and Stem Cell Biology (H.S., A.E., M.R., E.M.M.A.M., R.W., J.M., J.O.S., E.I., K.S., J.H., K.K., G.C., D.B.S., S.L.D.), Vascular Biology (G.J.M., R.S.), and Molecular, Structural, and Computational Biology (D.T.H., J.W.K.H., E.G.), Victor Chang Cardiac Research Institute, the Faculties of Medicine and Science, University of New South Wales (H.S., A.E., J.O.S., E.I., D.T.H., G.J.M., J.W.K.H., K.K., R.S., E.G., G.C., D.B.S., S.L.D.), Liverpool Hospital, Department of Clinical Genetics (A.E., A.C.), the Department of Clinical Genetics (A.E., J.S., F.C., D.O.S.) and the Heart Centre for Children (D.S.W.), Children's Hospital at Westmead, the Discipline of Genetic Medicine (A.E., J.S., F.C., D.O.S.) and the Medical School (D.S.W.), University of Sydney, and the Faculty of Medicine and Health Sciences, Macquarie University (C.K.L., G.J.G.) - all in Sydney, the School of Biological Sciences, University of Adelaide, Adelaide, SA (J.N.H., P.Q.T.), and the Institute of Health and Biomedical Innovation, Queensland University of Technology (A.M.M.-L., P.J.L., M.A.B., E.L.D.), the Translational Research Institute (A.M.M.-L., P.J.L., M.A.B., E.L.D.), the Department of Endocrinology, Royal Brisbane and Women's Hospital (E.L.D.), and the University of Queensland School of Medicine (E.L.D.), Brisbane - all in Australia; and Spectrum Health Medical Group, Medical Genetics, Grand Rapids, MI (P.R.M.).

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http://dx.doi.org/10.1056/NEJMoa1616361DOI Listing
August 2017

Comment on critical region for talipes equinovarus in patients with 5q23 deletions.

Eur J Med Genet 2015 Apr 10;58(4):243. Epub 2015 Feb 10.

Department of Medical Genetics, Spectrum Health, Grand Rapids, MI, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.01.010DOI Listing
April 2015

Narrowing the critical region for congenital vertical talus in patients with interstitial 18q deletions.

Am J Med Genet A 2013 May 13;161A(5):1117-21. Epub 2013 Mar 13.

Department of Medical Genetics, Spectrum Health, Grand Rapids, MI 49503, USA.

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http://dx.doi.org/10.1002/ajmg.a.35791DOI Listing
May 2013

Understanding nanoparticle assembly: a simulation approach to SERS-active dimers.

J Colloid Interface Sci 2012 Mar 3;369(1):134-43. Epub 2011 Dec 3.

Department of Materials Science and Engineering, Rutgers, The State University of New Jersey, Piscataway, NJ 08854, United States.

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http://dx.doi.org/10.1016/j.jcis.2011.11.052DOI Listing
March 2012

Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family.

Am J Med Genet A 2011 Jan;155A(1):174-9

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, 46202-5251, USA.

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http://dx.doi.org/10.1002/ajmg.a.33762DOI Listing
January 2011