William Rhead

William Rhead

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William Rhead

William Rhead

Publications by authors named "William Rhead"

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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

Characteristic Pulvinar Sign in Pseudo-α-galactosidase Deficiency Syndrome.

JAMA Neurol 2016 08;73(8):1020-1

Department of Neurology, Medical College of Wisconsin, Milwaukee.

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http://dx.doi.org/10.1001/jamaneurol.2016.0268DOI Listing
August 2016

Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase.

Mol Genet Metab 2016 Feb 1;117(2):164-71. Epub 2015 Jun 1.

Department of Medicine/National Centre for Inherited Metabolic Disorders, Mater Misericordiae University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1016/j.ymgme.2015.05.012DOI Listing
February 2016

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

Am J Med Genet A 2015 Sep 29;167A(9):2122-31. Epub 2015 Apr 29.

Medical Genetics Institute, Cedars Sinai Medical Center, Division of Medical Genetics, Harbor-UCLA Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California.

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http://doi.wiley.com/10.1002/ajmg.a.37131
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http://dx.doi.org/10.1002/ajmg.a.37131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4760347PMC
September 2015

Mutation Update for UBE3A variants in Angelman syndrome.

Hum Mutat 2014 Dec;35(12):1407-17

Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.

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http://dx.doi.org/10.1002/humu.22687DOI Listing
December 2014

Pancreatic insufficiency in Toriello-Carey syndrome: report of a second patient.

Am J Med Genet A 2012 May 11;158A(5):1208-11. Epub 2012 Apr 11.

Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.

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http://doi.wiley.com/10.1002/ajmg.a.35304
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http://dx.doi.org/10.1002/ajmg.a.35304DOI Listing
May 2012

Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.

J Inherit Metab Dis 2010 Dec 19;33 Suppl 3:S481-7. Epub 2010 Nov 19.

Division of Medical Genetics, Department of Pediatrics, Children's Hospital of UPMC, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1007/s10545-010-9246-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3970109PMC
December 2010

Identification of urine organic acids for the detection of inborn errors of metabolism using urease and gas chromatography-mass spectrometry (GC-MS).

Methods Mol Biol 2010 ;603:433-43

Department of Pathology, Medical College of Wisconsin, Milwaukee, WI, USA.

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http://dx.doi.org/10.1007/978-1-60761-459-3_42DOI Listing
April 2010

Agalsidase alfa and kidney dysfunction in Fabry disease.

J Am Soc Nephrol 2009 May 8;20(5):1132-9. Epub 2009 Apr 8.

Division of Nephrology, Department of Medicine, Dalhousie University, 5090 ACC QE II Health Sciences Centre, 5820 University Avenue, Halifax, NS, Canada B3H 1V8.

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http://dx.doi.org/10.1681/ASN.2008080870DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2678048PMC
May 2009

Creating genetics-based infusion centers: a case study of two models.

Genet Med 2008 Aug;10(8):626-32

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

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http://dx.doi.org/10.1097/gim.0b013e31818050a2DOI Listing
August 2008

Rescue from neonatal death in the murine model of hereditary tyrosinemia by glutathione monoethylester and vitamin C treatment.

Mol Genet Metab 2008 Mar 26;93(3):306-13. Epub 2007 Nov 26.

Laboratory of Cellular and Developmental Genetics, CREFSIP, Department of Medicine, Pav. C-E Marchand, 1030 Av. De la Médecine, Université Laval, Que., Canada G1K 7P4.

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http://dx.doi.org/10.1016/j.ymgme.2007.09.018DOI Listing
March 2008

Survival after treatment with phenylacetate and benzoate for urea-cycle disorders.

N Engl J Med 2007 May;356(22):2282-92

Department of Pediatrics, Division of Medical Genetics, Stanford University, School of Medicine, Lucile Packard Children's Hospital, Stanford, CA 94305-5208, USA.

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http://dx.doi.org/10.1056/NEJMoa066596DOI Listing
May 2007

2-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen.

WMJ 2007 Feb;106(1):12-5

Biochemical Genetics Program, Waisman Center, University of Wisconsin-Madison, Madison, WI, USA.

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February 2007

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.

Authors:
William J Rhead

J Inherit Metab Dis 2006 Apr-Jun;29(2-3):370-7

Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.

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http://dx.doi.org/10.1007/s10545-006-0292-1DOI Listing
January 2007

'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.

J Inherit Metab Dis 2006 Apr-Jun;29(2-3):383-9

Division of Metabolism, Bambino Gesù Children's Hospital, Piazza S. Onofrio 4, I-00165, Rome, Italy.

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http://dx.doi.org/10.1007/s10545-006-0278-zDOI Listing
January 2007

Unmasked adult-onset urea cycle disorders in the critical care setting.

Crit Care Clin 2005 Oct;21(4 Suppl):S1-8

Center for Human Genetic Research, Division of Medical Genetics, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232-0165, USA.

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http://dx.doi.org/10.1016/j.ccc.2005.05.002DOI Listing
October 2005

Considerations in the difficult-to-manage urea cycle disorder patient.

Crit Care Clin 2005 Oct;21(4 Suppl):S19-25

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.ccc.2005.05.001DOI Listing
October 2005

Nutritional management of urea cycle disorders.

Crit Care Clin 2005 Oct;21(4 Suppl):S27-35

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30032, USA.

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http://dx.doi.org/10.1016/j.ccc.2005.08.003DOI Listing
October 2005

Genetic counseling issues in urea cycle disorders.

Crit Care Clin 2005 Oct;21(4 Suppl):S37-44

Department of Pediatrics, Division of Genetics and Development, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1016/j.ccc.2005.08.001DOI Listing
October 2005

Urea cycle disorders: clinical presentation outside the newborn period.

Crit Care Clin 2005 Oct;21(4 Suppl):S9-17

Maine Pediatric Specialty Group, Portland, ME 04102, USA.

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http://dx.doi.org/10.1016/j.ccc.2005.05.007DOI Listing
October 2005

The call from the newborn screening laboratory: frustration in the afternoon.

Pediatr Clin North Am 2004 Jun;51(3):803-18, xii

Departments of Pediatrics and Pathology, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S003139550400011
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http://dx.doi.org/10.1016/j.pcl.2004.01.009DOI Listing
June 2004

Genitopatellar syndrome: expanding the phenotype.

Am J Med Genet A 2003 Sep;122A(1):80-3

Department of Pediatrics, Section of Genetics, Children's Hospital of Wisconsin, Milwaukee, Wisconsin 53201, USA.

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http://doi.wiley.com/10.1002/ajmg.a.20268
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http://dx.doi.org/10.1002/ajmg.a.20268DOI Listing
September 2003

Evaluation of liver fatty acid oxidation in the leptin-deficient obese mouse.

Mol Genet Metab 2002 Mar;75(3):219-26

Departments of Genomics and Pathobiology, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA.

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http://dx.doi.org/10.1006/mgme.2002.3298DOI Listing
March 2002