Laurie Seaver

Laurie Seaver

UNVERIFIED PROFILE

Are you Laurie Seaver?   Register this Author

Register author
Laurie Seaver

Laurie Seaver

Publications by authors named "Laurie Seaver"

Are you Laurie Seaver?   Register this Author

32Publications

666Reads

42Profile Views

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

Pediatr Neurol 2019 04 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.

View Article

Download full-text PDF

Source
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 04 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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S08878994183049
Publisher Site
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:

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.34161
Publisher Site
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
June 2002