Publications by authors named "Lois J Starr"

23Publications

The QT Interval in Patients With the Turner Syndrome.

Am J Cardiol 2021 Feb 2;140:118-121. Epub 2020 Nov 2.

Division of pediatric cardiology, University of Nebraska Medical Center, Children's Hospital & Medical Center, Omaha, Nebraska.

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February 2021

Vascular dissection in women with Turner syndrome.

Int J Cardiol 2020 Oct 9. Epub 2020 Oct 9.

Munroe Meyer Institute Human Genetics Lab, Omaha, NE, United States of America; Department of Pediatrics, Division of Medical Genetics, University of Nebraska, United States of america.

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October 2020

Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.

Am J Med Genet A 2020 02 14;182(2):328-337. Epub 2019 Dec 14.

Division of Reproductive and Medical Genetics, Department of Obstetrics & Gynecology and Women's Health, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York.

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February 2020

Hb Gibbon [β124(H2)Pro→Thr (: c.373C>A, p.P125T)], an Asymptomatic Novel Hemoglobin Variant Detected by Newborn Screening.

Hemoglobin 2019 May 6;43(3):207-209. Epub 2019 Aug 6.

Department of Pediatrics, Children's Hospital and Medical Center, University of Nebraska Medical Center , Omaha , NE , USA.

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May 2019

Utilization of echocardiography in Ehlers-Danlos syndrome.

Congenit Heart Dis 2019 Sep 22;14(5):864-867. Epub 2019 Jul 22.

Division of Cardiology, Department of Pediatrics, University of Nebraska Medical Center, Children's Hospital and Medical Center, Omaha, Nebraska.

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September 2019

PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype.

Am J Med Genet A 2019 07 30;179(7):1270-1275. Epub 2019 May 30.

Department of Pediatrics, Children's Hospital and Medical Center, University of Nebraska Medical Center, Omaha, Nebraska.

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July 2019

Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss-of-function disorder, a SWI/SNF-related intellectual disability.

Am J Med Genet A 2019 05 5;179(5):808-812. Epub 2019 Mar 5.

Munroe-Meyer Institute for Genetics & Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska.

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May 2019

Eliciting Narratives to Inform Care for Infants With Trisomy 18.

Pediatrics 2018 10 6;142(4). Epub 2018 Sep 6.

Cardiothoracic Surgery, Children's Hospital and Medical Center, Omaha, Nebraska.

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October 2018

Kawasaki Disease in a Patient With Williams Syndrome.

World J Pediatr Congenit Heart Surg 2020 Jul 24;11(4):NP144-NP147. Epub 2018 May 24.

University of Nebraska Medical Center, Nebraska Medical Center Omaha, NE, USA.

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July 2020

Newly described recessive MYH11 disorder with clinical overlap of Multisystemic smooth muscle dysfunction and Megacystis microcolon hypoperistalsis syndromes.

Am J Med Genet A 2018 04;176(4):1011-1014

Division of Medical Genetics, Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska.

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April 2018

Autism spectrum disorder and genetic testing: Parental perceptions and decision-making.

J Spec Pediatr Nurs 2018 04 23;23(2):e12211. Epub 2018 Feb 23.

Division of Clinical Genetics, Human Genetics Laboratory, University of Nebraska Medical Center, Omaha, USA.

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April 2018

Valve-Sparing Root and Total Arch Replacement for Cutis Laxa Aortopathy.

World J Pediatr Congenit Heart Surg 2019 05 4;10(3):376-379. Epub 2017 Jul 4.

4 Genetic Medicine, University of Nebraska Medical Center, Omaha, NE, USA.

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May 2019

The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization.

Am J Med Genet A 2016 09 23;170(9):2416-20. Epub 2016 Jun 23.

Division of Clinical Genetics, University of Nebraska Medical Center, Munroe-Meyer Institute for Genetics and Rehabilitation, Omaha, Nebraska.

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September 2016

Myhre syndrome: Clinical features and restrictive cardiopulmonary complications.

Am J Med Genet A 2015 Dec 30;167A(12):2893-901. Epub 2015 Sep 30.

Division of Clinical Genetics, University of Nebraska Medical Center, Munroe-Meyer Institute for Genetics and Rehabilitation, Omaha, Nebraska.

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December 2015

Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses.

Am J Med Genet A 2015 Sep 25;167A(9):2168-75. Epub 2015 Apr 25.

Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.

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September 2015

Assessing the utility of confirmatory studies following identification of large-scale genomic imbalances by microarray.

Genet Med 2015 Nov 15;17(11):875-9. Epub 2015 Jan 15.

Human Genetics Laboratory, Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska, USA.

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November 2015

Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: patient report and review of 20qter duplications.

Am J Med Genet A 2014 Aug 20;164A(8):2020-4. Epub 2014 Jun 20.

University of Nebraska Medical Center and the Munroe-Meyer Institute for Genetics and Rehabilitation, Omaha, Nebraska.

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August 2014

Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication.

Am J Med Genet A 2014 Apr 4;164A(4):1079-82. Epub 2014 Mar 4.

Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska.

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April 2014

Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome.

Am J Med Genet A 2012 Jun 11;158A(6):1285-91. Epub 2012 May 11.

Human Genetics Laboratories, University of Nebraska Medical Center and Munroe-Meyer Institute for Genetics and Rehabilitation, Omaha, Nebraska 68198-5440, USA.

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June 2012