Lois J Starr, MD

Assistant Professor

  • 628 Citations
  • 8 h-Index
20042019
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Research Output 2004 2019

  • 628 Citations
  • 8 h-Index
  • 22 Article
  • 1 Comment/debate
  • 1 Review article
2019

Correction to: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation (Genetics in Medicine, (2018), 10.1038/s41436-018-0269-0)

Koczkowska, M., Callens, T., Gomes, A., Sharp, A., Chen, Y., Hicks, A. D., Aylsworth, A. S., Azizi, A. A., Basel, D. G., Bellus, G., Bird, L. M., Blazo, M. A., Burke, L. W., Cannon, A., Collins, F., DeFilippo, C., Denayer, E., Digilio, M. C., Dills, S. K., Dosa, L. & 50 others, Greenwood, R. S., Griffis, C., Gupta, P., Hachen, R. K., Hernández-Chico, C., Janssens, S., Jones, K. J., Jordan, J. T., Kannu, P., Korf, B. R., Lewis, A. M., Listernick, R. H., Lonardo, F., Mahoney, M. J., Ojeda, M. M., McDonald, M. T., McDougall, C., Mendelsohn, N., Miller, D. T., Mori, M., Oostenbrink, R., Perreault, S., Pierpont, M. E., Piscopo, C., Pond, D. A., Randolph, L. M., Rauen, K. A., Rednam, S., Rutledge, S. L., Saletti, V., Schaefer, G. B., Schorry, E. K., Scott, D. A., Shugar, A., Siqveland, E., Starr, L. J., Syed, A., Trapane, P. L., Ullrich, N. J., Wakefield, E. G., Walsh, L. E., Wangler, M. F., Zackai, E., Claes, K. B. M., Wimmer, K., van Minkelen, R., De Luca, A., Martin, Y., Legius, E. & Messiaen, L. M., Mar 1 2019, In : Genetics in Medicine. 21, 3, p. 764-765 2 p.

Research output: Contribution to journalComment/debate

Gene Deletion
Medicine
Phenotype
8 Citations (Scopus)

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Koczkowska, M., Callens, T., Gomes, A., Sharp, A., Chen, Y., Hicks, A. D., Aylsworth, A. S., Azizi, A. A., Basel, D. G., Bellus, G., Bird, L. M., Blazo, M. A., Burke, L. W., Cannon, A., Collins, F., DeFilippo, C., Denayer, E., Digilio, M. C., Dills, S. K., Dosa, L. & 50 others, Greenwood, R. S., Griffis, C., Gupta, P., Hachen, R. K., Hernández-Chico, C., Janssens, S., Jones, K. J., Jordan, J. T., Kannu, P., Korf, B. R., Lewis, A. M., Listernick, R. H., Lonardo, F., Mahoney, M. J., Ojeda, M. M., McDonald, M. T., McDougall, C., Mendelsohn, N., Miller, D. T., Mori, M., Oostenbrink, R., Perreault, S., Pierpont, M. E., Piscopo, C., Pond, D. A., Randolph, L. M., Rauen, K. A., Rednam, S., Rutledge, S. L., Saletti, V., Schaefer, G. B., Schorry, E. K., Scott, D. A., Shugar, A., Siqveland, E., Starr, L. J., Syed, A., Trapane, P. L., Ullrich, N. J., Wakefield, E. G., Walsh, L. E., Wangler, M. F., Zackai, E., Claes, K. B. M., Wimmer, K., van Minkelen, R., De Luca, A., Martin, Y., Legius, E. & Messiaen, L. M., Apr 1 2019, In : Genetics in Medicine. 21, 4, p. 867-876 10 p.

Research output: Contribution to journalArticle

Neurofibromatosis 1 Genes
Neurofibromatosis 1
Phenotype
Neurofibroma
Skin

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

Wolf, A., Rohr, J. M., Amador, C., Starr, L. J., Hoyer, J. D. & Ford, J. B., May 4 2019, In : Hemoglobin. 43, 3, p. 207-209 3 p.

Research output: Contribution to journalArticle

Hylobates
Screening
Hemoglobins
Newborn Infant
Hemoglobinopathies
1 Citation (Scopus)
Skin Pigmentation
Intellectual Disability
Phenotype
Nails
Mutation
1 Citation (Scopus)

PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype

Starr, L. J., Spranger, J. W., Rao, V. K., Lutz, R. & Yetman, A. T., Jul 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1270-1275 6 p.

Research output: Contribution to journalArticle

Protein Deficiency
Glycosylphosphatidylinositols
Phenotype
Protein Biosynthesis
N-Acetylglucosaminyltransferases

Utilization of echocardiography in Ehlers-Danlos syndrome

Rauser-Foltz, K. K., Starr, L. J. & Yetman, A. T., Sep 1 2019, In : Congenital Heart Disease. 14, 5, p. 864-867 4 p.

Research output: Contribution to journalArticle

Ehlers-Danlos Syndrome
Echocardiography
Pathology
Musculoskeletal Pain
Mitral Valve Prolapse
2018

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

Hanish, A. E., Cohen, M. Z. & Starr, L. J., Apr 2018, In : Journal for Specialists in Pediatric Nursing. 23, 2, e12211.

Research output: Contribution to journalArticle

Genetic Testing
Decision Making
Parents
Social Responsibility
Microarray Analysis
2 Citations (Scopus)
Turner Syndrome
Echocardiography
Aortic Coarctation
Heart Diseases
Hemodynamics
2 Citations (Scopus)

Eliciting narratives to inform for infants with Trisomy 18

Weaver, M. S., Starr, L. J., Austin, P. N., Stevenson, C. L. & Hammel, J. M., Oct 2018, In : Pediatrics. 142, 4, e20180321.

Research output: Contribution to journalArticle

Trisomy 18
5 Citations (Scopus)
Smooth Muscle
Pupil Disorders
Exome
Heterozygote
Urinary Bladder
2016
1 Citation (Scopus)

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

Sanmann, J. N., Casas, K. A., Bevilacqua, J., Bishay, D. L., Clark, T., Van Dyke, A. Z., Leiferman, P. C., Reddi, H. V. & Starr, L. J., Sep 1 2016, In : American Journal of Medical Genetics, Part A. 170, 9, p. 2416-2420 5 p.

Research output: Contribution to journalArticle

Chromosomes, Human, Pair 6
Chromosome Duplication
Sensorineural Hearing Loss
Intellectual Disability
Hearing
2015
2 Citations (Scopus)

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

Sanmann, J. N., Pickering, D. L., Golden, D. M., Stevens, J. M., Hempel, T. E., Althof, P. A., Wiggins, M. L., Starr, L. J., Dave, B. J. & Sanger, W. G., Nov 1 2015, In : Genetics in Medicine. 17, 11, p. 875-879 5 p.

Research output: Contribution to journalArticle

Technology
Microarray Analysis
Fluorescence In Situ Hybridization
9 Citations (Scopus)

Myhre syndrome: Clinical features and restrictive cardiopulmonary complications

Starr, L. J., Grange, D. K., Delaney, J. W., Yetman, A. T., Hammel, J. M., Sanmann, J. N., Perry, D. A., Schaefer, G. B. & Olney, A. H., Dec 1 2015, In : American Journal of Medical Genetics, Part A. 167, 12, p. 2893-2901 9 p.

Research output: Contribution to journalArticle

Patent Ductus Arteriosus
Aortic Coarctation
Pericarditis
Deafness
Heart Transplantation
1 Citation (Scopus)

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

Zarate, Y. A., Bosanko, K. A., Bhoj, E., Ganetzky, R., Starr, L. J., Zackai, E. H. & Schaefer, G. B., Sep 1 2015, In : American Journal of Medical Genetics, Part A. 167, 9, p. 2168-2175 8 p.

Research output: Contribution to journalArticle

Aneuploidy
Chromosomes
Down Syndrome
Goldenhar Syndrome
Marfan Syndrome
9 Citations (Scopus)

Progressive aortic dilation associated with ACTA2 mutations presenting in infancy

Yetman, A. T., Starr, L. J., Bleyl, S. B., Meyers, L. & Delaney, J. W., Jul 1 2015, In : Pediatrics. 136, 1, p. e262-e266

Research output: Contribution to journalArticle

Dilatation
Mutation
Aortic Diseases
Patent Ductus Arteriosus
Aortic Aneurysm
21 Citations (Scopus)

The SMAD-binding domain of SKI: A hotspot for de novo mutations causing Shprintzen-Goldberg syndrome

Schepers, D., Doyle, A. J., Oswald, G., Sparks, E., Myers, L., Willems, P. J., Mansour, S., Simpson, M. A., Frysira, H., Maat-Kievit, A., Van Minkelen, R., Hoogeboom, J. M., Mortier, G. R., Titheradge, H., Brueton, L., Starr, L. J., Stark, Z., Ockeloen, C., Lourenco, C. M., Blair, E. & 9 others, Hobson, E., Hurst, J., Maystadt, I., Destrée, A., Girisha, K. M., Miller, M., Dietz, H. C., Loeys, B. & Van Laer, L., Feb 20 2015, In : European Journal of Human Genetics. 23, 2, p. 224-228 5 p.

Research output: Contribution to journalArticle

Mutation
Loeys-Dietz Syndrome
Oncogene Proteins
Missense Mutation
Intellectual Disability
2014
2 Citations (Scopus)

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

Starr, L. J., Truemper, E. J., Pickering, D. L., Sanger, W. G. & Olney, A. H., Aug 2014, In : American Journal of Medical Genetics, Part A. 164, 8, p. 2020-2024 5 p.

Research output: Contribution to journalArticle

Chin
Chromosome Duplication
Chromosomes, Human, Pair 20
Microphthalmos
Comparative Genomic Hybridization
4 Citations (Scopus)
Chromosome Duplication
Chromosomes, Human, Pair 18
Neoplasms
Wilms Tumor
Ultrasonography
2013
2 Citations (Scopus)

Searching for electrical properties, phenomena and mechanisms in the construction and function of chromosomes

Kanev, I., Mei, W. N., Mizuno, A., Dehaai, K., Sanmann, J. N., Hess, M., Starr, L. J., Grove, J., Dave, B. J. & Sanger, W., Mar 2013, In : Computational and Structural Biotechnology Journal. 6, 7, p. e201303007 a10.

Research output: Contribution to journalArticle

Electromagnetic Phenomena
Chromosomes
Electric properties
Inborn Genetic Diseases
Chromosomes, Human, Pair 3
2012
12 Citations (Scopus)

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

Sanmann, J. N., Bishay, D. L., Starr, L. J., Bell, C. A., Pickering, D. L., Stevens, J. M., Kahler, S. G., Olney, A. H., Schaefer, G. B. & Sanger, W. G., Jun 1 2012, In : American Journal of Medical Genetics, Part A. 158 A, 6, p. 1285-1291 7 p.

Research output: Contribution to journalArticle

Methyl-CpG-Binding Protein 2
X Chromosome
Chromosomes, Human, Pair 12
Chromosome Deletion
Cryptorchidism
2010
19 Citations (Scopus)

Array comparative genomic hybridization findings in a cohort referred for an autism evaluation

Schaefer, G. B., Starr, L. J., Pickering, D., Skar, G., Dehaai, K. & Sanger, W. G., Dec 1 2010, In : Journal of Child Neurology. 25, 12, p. 1498-1503 6 p.

Research output: Contribution to journalArticle

Comparative Genomic Hybridization
Autistic Disorder
Abnormal Karyotype
Routine Diagnostic Tests
2006
25 Citations (Scopus)

Failure of homocysteine to induce neural tube defects in a mouse model

Bennett, G. D., VanWaes, J., Moser, K., Chaudoin, T., Starr, L. J. & Rosenquist, T. H., Apr 1 2006, In : Birth Defects Research Part B - Developmental and Reproductive Toxicology. 77, 2, p. 89-94 6 p.

Research output: Contribution to journalArticle

Neural Tube Defects
Homocysteine
Defects
Chickens
Embryonic Structures
2005
120 Citations (Scopus)

Maternal fumonisin exposure and risk for neural tube defects: Mechanisms in an in vivo mouse model

Gelineau-Van Waes, J., Starr, L. J., Maddox, J., Aleman, F., Voss, K. A., Wilberding, J. & Riley, R. T., Jul 1 2005, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 73, 7, p. 487-497 11 p.

Research output: Contribution to journalArticle

Fumonisins
Maternal Exposure
Neural Tube Defects
Folic Acid
Mothers
2004
382 Citations (Scopus)

Fumonisins Disrupt Sphingolipid Metabolism, Folate Transport, and Neural Tube Development in Embryo Culture and In Vivo: A Potential Risk Factor for Human Neural Tube Defects among Populations Consuming Fumonisin-Contaminated Maize

Marasas, W. F. O., Riley, R. T., Hendricks, K. A., Stevens, V. L., Sadler, T. W., Gelineau-Van Waes, J., Missmer, S. A., Cabrera, J., Torres, O., Gelderblom, W. C. A., Allegood, J., Martínez, C., Maddox, J., Miller, J. D., Starr, L., Sullards, M. C., Roman, A. V., Voss, K. A., Wang, E. & Merrill, A. H., Apr 1 2004, In : Journal of Nutrition. 134, 4, p. 711-716 6 p.

Research output: Contribution to journalReview article

Fumonisins
neural tube defects
sphingolipids
Sphingolipids
Neural Tube