Carol Nelson-Williams

Carol Nelson-Williams

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Carol Nelson-Williams

Carol Nelson-Williams

Publications by authors named "Carol Nelson-Williams"

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Recessive Mutations in Cause High Gamma-Glutamyltransferase Cholestasis.

Hepatol Commun 2019 Apr 13;3(4):471-477. Epub 2019 Feb 13.

Department of Internal Medicine, Section of Digestive Diseases Yale University School of Medicine New Haven CT.

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http://doi.wiley.com/10.1002/hep4.1320
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http://dx.doi.org/10.1002/hep4.1320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6442693PMC
April 2019

Hypokalemia Associated With a Claudin 10 Mutation: A Case Report.

Am J Kidney Dis 2019 Mar 25;73(3):425-428. Epub 2018 Oct 25.

Division of Nephrology, Department of Pediatrics, NYU Langone Health, New York, NY. Electronic address:

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http://dx.doi.org/10.1053/j.ajkd.2018.08.015DOI Listing
March 2019

A novel de novo frameshift mutation in NR0B1 and low prenatal estriol in adrenal hypoplasia congenita.

Ann N Y Acad Sci 2018 12 21;1433(1):7-11. Epub 2018 Aug 21.

Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York.

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http://dx.doi.org/10.1111/nyas.13962DOI Listing
December 2018

9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus.

Cold Spring Harb Mol Case Stud 2018 10 1;4(5). Epub 2018 Oct 1.

Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA.

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http://dx.doi.org/10.1101/mcs.a003145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169828PMC
October 2018

Exome analysis of the evolutionary path of hepatocellular adenoma-carcinoma transition, vascular invasion and brain dissemination.

J Hepatol 2017 07 18;67(1):186-191. Epub 2017 Mar 18.

Department of Internal Medicine, Section of Digestive Diseases, Yale University School of Medicine, New Haven, CT, USA; VA Connecticut Healthcare System, West Haven, CT, USA.

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http://dx.doi.org/10.1016/j.jhep.2017.03.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5497691PMC
July 2017

Digenic mutations of human paralogs in Dent's disease type 2 associated with Chiari I malformation.

Hum Genome Var 2016 8;3:16042. Epub 2016 Dec 8.

Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA; Department of Pediatrics, Yale School of Medicine, New Haven, CT, USA; Department of Cellular & Molecular Physiology, Yale School of Medicine, New Haven, CT, USA.

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http://dx.doi.org/10.1038/hgv.2016.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5143364PMC
December 2016

Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.

Am J Hum Genet 2016 06 12;98(6):1082-1091. Epub 2016 May 12.

Cardiovascular Research Center, Department of Internal Medicine, Yale University School of Medicine and Howard Hughes Medical Institute, New Haven, CT 06520, USA; Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908195PMC
June 2016

Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma.

J Clin Endocrinol Metab 2015 Mar 9;100(3):E493-502. Epub 2014 Dec 9.

Yale Endocrine Neoplasia Laboratory (C.C.J., J.M.H., A.L.F., J.W.K., T.C.B., R.K., T.C.), Yale School of Medicine, New Haven, Connecticut 06520; Department of Surgery (C.C.J., J.M.H., A.L.F., J.W.K., T.C.B., R.K., T.C.), Yale School of Medicine, New Haven, Connecticut, 06520; Department of Genetics (G.G., C.N.W., M.C., R.P.L.), Yale School of Medicine and Howard Hughes Medical Institute, New Haven, Connecticut, 06520; Department of Oncology-Pathology (C.C.J., A.S., A.H., C.L.), Karolinska Institutet, Karolinska University Hospital, CCK, SE-171 76 Stockholm, Sweden; Yale Center for Genome Analysis (JDO, SMM), Orange, Connecticut, 06477; Department of Pathology (D.L.R., M.L.P.), Yale School of Medicine, New Haven, Connecticut, 06520; Department of Pharmacology (J.S.), Yale School of Medicine, New Haven, Connecticut 06520; Department of Molecular Medicine and Surgery (M.B.), Karolinska Institutet, Karolinska University Hospital, SE-171 76 Stockholm, Sweden; Division of Nephrology (U.I.S.), University Hospital Düsseldorf, 40225 Düsseldorf, Germany; Department of Pathology (A.C.S.), University Hospital Düsseldorf, 40225 Düsseldorf, Germany; and Division of Endocrinology and Diabetology (M.H.), University Hospital Düsseldorf, 40225 Düsseldorf, Germany.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2014-3282DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393505PMC
March 2015

Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas.

Proc Natl Acad Sci U S A 2015 Mar 18;112(13):4062-7. Epub 2015 Mar 18.

Departments of Genetics, Howard Hughes Medical Institute, Yale Center for Genome Analysis, Yale University School of Medicine, New Haven, CT 06510; Internal Medicine,

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http://dx.doi.org/10.1073/pnas.1503696112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386328PMC
March 2015

Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.

Nat Genet 2014 Jun 20;46(6):613-7. Epub 2014 Apr 20.

1] Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA. [2] Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, Connecticut, USA. [3] Yale Center for Mendelian Genomics, New Haven, Connecticut, USA.

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http://dx.doi.org/10.1038/ng.2956DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4074779PMC
June 2014

SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.

Pediatr Nephrol 2012 Nov 21;27(11):2081-2090. Epub 2012 Aug 21.

Departments of Genetics and Internal Medicine, Howard Hughes Medical Institute, Yale University School of Medicine, 300 Cedar Street, New Haven, CT, 06510, USA.

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http://dx.doi.org/10.1007/s00467-012-2219-4DOI Listing
November 2012

Identification of somatic mutations in parathyroid tumors using whole-exome sequencing.

J Clin Endocrinol Metab 2012 Sep 27;97(9):E1774-81. Epub 2012 Jun 27.

Department of Genetics, Yale Cancer Center, Yale University School of Medicine, New Haven, Connecticut 06520, USA.

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http://dx.doi.org/10.1210/jc.2012-1743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393442PMC
September 2012

Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.

Proc Natl Acad Sci U S A 2012 Feb 30;109(7):2533-8. Epub 2012 Jan 30.

Departments of Genetics and Internal Medicine and Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510, USA.

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http://dx.doi.org/10.1073/pnas.1121407109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3289329PMC
February 2012

Apolipoprotein C3 gene variants in nonalcoholic fatty liver disease.

N Engl J Med 2010 Mar;362(12):1082-9

Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA.

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http://dx.doi.org/10.1056/NEJMoa0907295DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2976042PMC
March 2010

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.

Proc Natl Acad Sci U S A 2009 Nov 27;106(45):19096-101. Epub 2009 Oct 27.

Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510, USA.

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http://dx.doi.org/10.1073/pnas.0910672106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2768590PMC
November 2009

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.

Proc Natl Acad Sci U S A 2009 Apr 16;106(14):5842-7. Epub 2009 Mar 16.

Department of Genetics, The Howard Hughes Medical Institute, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06510, USA.

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http://www.pnas.org/cgi/doi/10.1073/pnas.0901749106
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http://dx.doi.org/10.1073/pnas.0901749106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2656559PMC
April 2009

A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism.

Proc Natl Acad Sci U S A 2008 Mar 28;105(9):3455-60. Epub 2008 Feb 28.

Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510.

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http://dx.doi.org/10.1073/pnas.0712361105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2265125PMC
March 2008

LRP6 mutation in a family with early coronary disease and metabolic risk factors.

Science 2007 Mar;315(5816):1278-82

Department of Internal Medicine, Howard Hughes Medical Institute and Yale University School of Medicine, New Haven, CT 06510, USA.

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http://dx.doi.org/10.1126/science.1136370DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2945222PMC
March 2007

Wnk4 controls blood pressure and potassium homeostasis via regulation of mass and activity of the distal convoluted tubule.

Nat Genet 2006 Oct 10;38(10):1124-32. Epub 2006 Sep 10.

Department of Genetics, Howard Hughes Medical, Institute, Yale University School of Medicine, New Haven, Connecticut 06520, USA.

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http://www.nature.com/articles/ng1877
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http://dx.doi.org/10.1038/ng1877DOI Listing
October 2006

Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.

Proc Natl Acad Sci U S A 2005 Feb 31;102(8):2975-9. Epub 2005 Jan 31.

Department of Medicine, Howard Hughes Medical Institute and Yale University School of Medicine, New Haven, CT 06510, USA.

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http://dx.doi.org/10.1073/pnas.0409852102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC549488PMC
February 2005

WNK1, a kinase mutated in inherited hypertension with hyperkalemia, localizes to diverse Cl- -transporting epithelia.

Proc Natl Acad Sci U S A 2003 Jan 8;100(2):663-8. Epub 2003 Jan 8.

Department of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, 295 Congress Avenue, New Haven, CT 06510, USA.

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http://dx.doi.org/10.1073/pnas.242728499DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC141053PMC
January 2003

KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein.

Proc Natl Acad Sci U S A 2002 Aug 24;99(16):10677-82. Epub 2002 Jul 24.

Department of Neurosurgery, Yale Neurovascular Surgery Program, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06510, USA.

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http://dx.doi.org/10.1073/pnas.122354499DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC125011PMC
August 2002