Lois J Starr, MD

  • 695 Citations
  • 10 h-Index
20042020

Research output per year

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Research Output

  • 695 Citations
  • 10 h-Index
  • 24 Article
  • 1 Comment/debate
  • 1 Review article
2004

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 2004, In : Journal of Nutrition. 134, 4, p. 711-716 6 p.

Research output: Contribution to journalReview article

Open Access
403 Scopus citations
2005

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

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

Research output: Contribution to journalArticle

129 Scopus citations
2006

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

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

Research output: Contribution to journalArticle

25 Scopus citations
2010

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 2010, In : Journal of Child Neurology. 25, 12, p. 1498-1503 6 p.

Research output: Contribution to journalArticle

21 Scopus citations
2012

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 2012, In : American Journal of Medical Genetics, Part A. 158 A, 6, p. 1285-1291 7 p.

Research output: Contribution to journalArticle

12 Scopus citations
2013

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., Hess, M., Starr, L., Grove, J., Dave, B. & Sanger, W., Mar 2013, In : Computational and Structural Biotechnology Journal. 6, 7, p. e201303007 a10.

Research output: Contribution to journalArticle

2 Scopus citations
2014

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

2 Scopus citations
5 Scopus citations
2015

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

3 Scopus citations

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

12 Scopus citations

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

1 Scopus citations

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

10 Scopus citations

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., 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

23 Scopus citations
2016

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

1 Scopus citations
2018
4 Scopus citations

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

2 Scopus citations
10 Scopus citations
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

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

18 Scopus citations

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

1 Scopus citations
2 Scopus citations

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

5 Scopus citations

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

4 Scopus citations
2020

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

Lin, A. E., Alali, A., Starr, L. J., Shah, N., Beavis, A., Pereira, E. M., Lindsay, M. E. & Klugman, S., Feb 1 2020, In : American Journal of Medical Genetics, Part A. 182, 2, p. 328-337 10 p.

Research output: Contribution to journalArticle