20052020

Research output per year

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Research Output

2020
Open Access
2019

A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy

Wiens, K., Berry, S. A., Choi, H., Gaviglio, A., Gupta, A., Hietala, A., Kenney-Jung, D., Lund, T., Miller, W., Pierpont, E. I., Raymond, G., Winslow, H., Zierhut, H. A. & Orchard, P. J., Jul 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1205-1213 9 p.

Research output: Contribution to journalArticle

Open Access
7 Scopus citations
Open Access
1 Scopus citations

Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome

McNeill, A. M., Hudock, R. L., Foy, A. M. H., Shanley, R., Semrud-Clikeman, M., Pierpont, M. E., Berry, S. A., Sommer, K., Moertel, C. L. & Pierpont, E. I., Dec 1 2019, In : American Journal of Medical Genetics, Part A. 179, 12, p. 2433-2446 14 p.

Research output: Contribution to journalArticle

Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes

Eisengart, J. B., Pierpont, E. I., Kaizer, A. M., Rudser, K. D., King, K. E., Pasquali, M., Polgreen, L. E., Dickson, P. I., Le, S. Q., Miller, W. P., Tolar, J., Orchard, P. J. & Lund, T. C., Nov 1 2019, In : Genetics in Medicine. 21, 11, p. 2552-2560 9 p.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations
2018

Associations between medical history, cognition, and behavior in youth with down syndrome: A report from the down syndrome cognition project

Rosser, T. C., Edgin, J. O., Capone, G. T., Hamilton, D. R., Allen, E. G., Dooley, K. J., Anand, P., Strang, J. F., Armour, A. C., Frank-Crawford, M. A., Channell, M. M., Pierpont, E. I., Feingold, E., Maslen, C. L., Reeves, R. H. & Sherman, S. L., Nov 2018, In : American journal on intellectual and developmental disabilities. 123, 6, p. 514-528 15 p.

Research output: Contribution to journalArticle

6 Scopus citations
Open Access
5 Scopus citations
Open Access
1 Scopus citations
Open Access
7 Scopus citations
2017
Open Access
19 Scopus citations

The Arizona cognitive test battery for down syndrome: Test-retest reliability & practice effects

Edgin, J. O., Anand, P., Rosser, T., Pierpont, E. I., Figueroa, C., Hamilton, D., Huddleston, L., Mason, G., Spaǹo, G., Toole, L., Nguyen-Driver, M., Capone, G., Abbeduto, L., Maslen, C., Reeves, R. H. & Sherman, S., May 2017, In : American journal on intellectual and developmental disabilities. 122, 3, p. 215-234 20 p.

Research output: Contribution to journalArticle

Open Access
10 Scopus citations

Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations

Pierpont, E. I., Semrud-Clikeman, M. & Pierpont, M. E., Feb 1 2017, In : American Journal of Medical Genetics, Part A. 173, 2, p. 452-459 8 p.

Research output: Contribution to journalArticle

3 Scopus citations
2016

Behavioral functioning in cardiofaciocutaneous syndrome: Risk factors and impact on parenting experience

Pierpont, R. & Wolford, M., Aug 1 2016, In : American Journal of Medical Genetics, Part A. 170, 8, p. 1974-1988 15 p.

Research output: Contribution to journalArticle

5 Scopus citations
2015

Attention skills and executive functioning in children with Noonan syndrome and their unaffected siblings

Pierpont, E. I., Tworog-Dube, E. & Roberts, A. E., Apr 1 2015, In : Developmental Medicine and Child Neurology. 57, 4, p. 385-392 8 p.

Research output: Contribution to journalArticle

20 Scopus citations
2014

Cardio-facio-cutaneous syndrome: Clinical features, diagnosis, and management guidelines

Pierpont, M. E. L. M., Magoulas, P. L., Adi, S., Kavamura, M. I. N., Neri, G., Noonan, J., Pierpont, E. I., Reinker, K., Roberts, A. E., Shankar, S., Sullivan, J., Wolford, M., Conger, B., Santa Cruz, M. & Rauen, K. A., 2014, In : Pediatrics. 134, 4, p. e1149-e1162

Research output: Contribution to journalReview article

65 Scopus citations
2013

A neurodevelopmental perspective on the acquisition of nonverbal cognitive skills in adolescents with fragile X syndrome

Kover, S. T., Pierpont, E. I., Kim, J. S., Ted Brown, W. & Abbeduto, L., Oct 1 2013, In : Developmental Neuropsychology. 38, 7, p. 445-460 16 p.

Research output: Contribution to journalArticle

24 Scopus citations

Learning and memory in children with Noonan syndrome

Pierpont, E. I., Tworog-Dube, E. & Roberts, A. E., Sep 1 2013, In : American Journal of Medical Genetics, Part A. 161, 9, p. 2250-2257 8 p.

Research output: Contribution to journalArticle

22 Scopus citations
2011

Contributions of phonological and verbal working memory to language development in adolescents with fragile X syndrome

Pierpont, E. I., Richmond, E. K., Abbeduto, L., Kover, S. T. & Brown, W. T., Dec 2011, In : Journal of neurodevelopmental disorders. 3, 4, p. 335-347 13 p.

Research output: Contribution to journalArticle

30 Scopus citations
6 Scopus citations
2010

Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: Cardiofaciocutaneous syndrome and Noonan syndrome

Pierpont, R., Pierpont, M. E. M., Mendelsohn, N. J., Roberts, A. E., Tworog-Dube, E., Rauen, K. A. & Seidenberg, M. S., Mar 2010, In : American Journal of Medical Genetics, Part A. 152, 3, p. 591-600 10 p.

Research output: Contribution to journalArticle

22 Scopus citations

The language phenotype of children and adolescents with noonan syndrome

Pierpont, E. I., Weismer, S. E., Roberts, A. E., Tworog-Dube, E., Pierpont, M. E., Mendelsohn, N. J. & Seidenberg, M. S., Aug 1 2010, In : Journal of Speech, Language, and Hearing Research. 53, 4, p. 917-932 16 p.

Research output: Contribution to journalArticle

21 Scopus citations
2009

Genotype differences in cognitive functioning in Noonan syndrome

Pierpont, E. I., Pierpont, M. E., Mendelsohn, N. J., Roberts, A. E., Tworog-Dube, E. & Seidenberg, M. S., Apr 2009, In : Genes, Brain and Behavior. 8, 3, p. 275-282 8 p.

Research output: Contribution to journalArticle

62 Scopus citations
2005

Specific language impairment is not specific to language: The procedural deficit hypothesis

Ullman, M. T. & Pierpont, E. I., Jun 2005, In : Cortex. 41, 3, p. 399-433 35 p.

Research output: Contribution to journalArticle

433 Scopus citations