Laurie H Seaver

Laurie H Seaver

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Laurie H Seaver

Laurie H Seaver

Publications by authors named "Laurie H Seaver"

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28Publications

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Reply to Finsterer Regarding Lethal NARS2-Related Disorder Associated With Rapidly Progressive Intractable Epilepsy and Global Brain Atrophy.

Pediatr Neurol 2019 Apr 28;93:65. Epub 2018 Nov 28.

Helen DeVos Children's Hospital, Grand Rapids, MI, USA; College of Human Medicine Department of Pediatrics and Human Development, Michigan State University, Grand Rapids, MI, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.11.013DOI Listing
April 2019

Evolution of the phenotype of craniosynostosis with dental anomalies syndrome and report of IL11RA variant population frequencies in a Crouzon-like autosomal recessive syndrome.

Am J Med Genet A 2019 Apr 27;179(4):668-673. Epub 2019 Feb 27.

Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, Michigan.

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http://dx.doi.org/10.1002/ajmg.a.61070DOI Listing
April 2019

Lethal NARS2-Related Disorder Associated With Rapidly Progressive Intractable Epilepsy and Global Brain Atrophy.

Pediatr Neurol 2018 12 4;89:26-30. Epub 2018 Aug 4.

Helen DeVos Children's Hospital, Grand Rapids, Michigan; College of Human Medicine Department of Pediatrics and Human Development, Michigan State University, Grand Rapids, Michigan.

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https://linkinghub.elsevier.com/retrieve/pii/S08878994183049
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http://dx.doi.org/10.1016/j.pediatrneurol.2018.07.014DOI Listing
December 2018

βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy.

Am J Hum Genet 2018 06 31;102(6):1158-1168. Epub 2018 May 31.

Department of Neuroscience and Integrative Molecular and Biomedical Sciences Graduate Program, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.04.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992132PMC
June 2018

Three cases of Troyer syndrome in two families of Filipino descent.

Am J Med Genet A 2016 07 26;170(7):1780-5. Epub 2016 Apr 26.

Department of Pediatrics, San Antonio Military Medical Center, JBSA Ft Sam Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.37658DOI Listing
July 2016

Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between Timothy syndrome types 1 and 2?

Am J Med Genet A 2015 Nov 31;167A(11):2780-5. Epub 2015 Jul 31.

Department of Pediatrics, University of Hawaii', John A. Burns School of Medicine, Honolulu, Hawaii.

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http://dx.doi.org/10.1002/ajmg.a.37258DOI Listing
November 2015

Mosaic tetrasomy 20p associated with osteoporosis and recurrent fractures.

Am J Med Genet A 2015 Jul 21;167(7):1582-6. Epub 2015 Apr 21.

Department of Pediatrics, University of Hawaii John A. Burns School of Medicine, Honolulu, Hawaii.

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http://dx.doi.org/10.1002/ajmg.a.37074DOI Listing
July 2015

Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.

Am J Med Genet A 2014 Nov 22;164A(11):2814-21. Epub 2014 Sep 22.

Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, California.

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http://dx.doi.org/10.1002/ajmg.a.36737DOI Listing
November 2014

The perinatal presentation of cardiofaciocutaneous syndrome.

Am J Med Genet A 2014 Aug 9;164A(8):2036-42. Epub 2014 Apr 9.

Department of Pediatrics, University of Hawaii, Honolulu, Hawaii.

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http://dx.doi.org/10.1002/ajmg.a.36558DOI Listing
August 2014

Atypical amyoplasia congenita in an infant with Leigh syndrome: a mitochondrial cause of severe contractures?

Am J Med Genet A 2012 Sep 7;158A(9):2353-7. Epub 2012 Aug 7.

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

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http://dx.doi.org/10.1002/ajmg.a.35533DOI Listing
September 2012

Limb-body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies?

Am J Med Genet A 2011 Sep 3;155A(9):2045-59. Epub 2011 Aug 3.

JC Self Research Institute, Greenwood Genetic Center, Greenwood, South Carolina, USA.

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http://doi.wiley.com/10.1002/ajmg.a.34161
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http://dx.doi.org/10.1002/ajmg.a.34161DOI Listing
September 2011

A neonatal death due to medium-chain acyl-CoA dehydrogenase deficiency: utilization of the neonatal metabolic screen in a functional approach to sudden unexplained infant death.

Am J Forensic Med Pathol 2009 Sep;30(3):284-6

Clinical Laboratories of Hawaii, Inc, Department of Pathology, John A. Burns School of Medicine, Honolulu, Hawaii.

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http://dx.doi.org/10.1097/PAF.0b013e318187e09bDOI Listing
September 2009

ACMG practice guideline: genetic evaluation of short stature.

Genet Med 2009 Jun;11(6):465-70

Kapi'olani Medical Specialists, Honolulu, Hawaii, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181a7e8f8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3111030PMC
June 2009

Noncirrhotic portal hypertension in a child with velocardiofacial syndrome.

Am J Med Genet A 2007 Nov;143A(21):2623-4

Hawaii Community Genetics, Kapi'olani Medical Center for Women and Children, 1441 Kapi'olani Blvd. Suite 1800, Honolulu, HI 96814, USA.

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http://dx.doi.org/10.1002/ajmg.a.31973DOI Listing
November 2007

Birth defects research: improving surveillance methods and addressing epidemiologic questions and public health issues.

Birth Defects Res A Clin Mol Teratol 2005 Oct;73(10):645

Department of Maternal and Child Health, School of Public Health, University of Alabama at Birmingham, 35294, USA.

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http://dx.doi.org/10.1002/bdra.20204DOI Listing
October 2005

Neural tube defects and associated anomalies in South Carolina.

Birth Defects Res A Clin Mol Teratol 2004 Sep;70(9):554-8

Greenwood Genetic Center, South Carolina 29646, USA.

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http://dx.doi.org/10.1002/bdra.20062DOI Listing
September 2004

Adverse environmental exposures in pregnancy: teratology in adolescent medicine practice.

Authors:
Laurie H Seaver

Adolesc Med 2002 Jun;13(2):269-91, vi

Greenwood Genetic Center, South Carolina 29646, USA.

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June 2002