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R. Simensen · SciRah

Researcher profile · Semantic Scholar

R. Simensen

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R. Simensen — researcher profile on SciRah

h-index: 28
Works: 71
Citations: 3,480

Most-cited papers

Autism and maternally derived aberrations of chromosome 15q.
R. Schroer, M. Phelan, R. Michaelis, E. Crawford +7 more
1998American journal of medical genetics375 citations
Semantic Scholar
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.
Charles E. Schwartz, M. May, N. Carpenter, R. C. Rogers +11 more
2005American Journal of Human Genetics356 citations Open access
Semantic Scholar
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
P. Tarpey, F. Raymond, L. Nguyen, Jayson D. Rodriguez +53 more
2007Nature Genetics290 citations Open access
Semantic Scholar
Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28
M. Friez, Julie R. Jones, K. Clarkson, H. Lubs +8 more
2006Pediatrics207 citations
Semantic Scholar
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene
C. Schwartz, P. Tarpey, H. Lubs, A. Verloes +16 more
2007Journal of Medical Genetics180 citations Open access
Semantic Scholar
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome
A. Cason, Yoshihiko Ikeguchi, C. Skinner, T. Wood +7 more
2003European Journal of Human Genetics173 citations
Semantic Scholar
Phenotype and Genotype in Mucolipidoses II and III alpha/beta: A Study of 61 Probands
S. Cathey, Jules G. Leroy, T. Wood, Karisa Eaves +4 more
2009Journal of Medical Genetics156 citations Open access
Semantic Scholar
Autism and macrocephaly.
R. Stevenson, R. Schroer, C. Skinner, D. Fender +1 more
1997The Lancet150 citations
Semantic Scholar
Longitudinal Changes in Cognitive and Adaptive Behavior Scores in Children and Adolescents with the Fragile X Mutation or Autism
G. Fisch, R. Simensen, R. Schroer
2002Journal of Autism and Developmental Disorders122 citations
Semantic Scholar
Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.
P. Tarpey, C. Stevens, J. Teague, S. Edkins +45 more
2006American Journal of Human Genetics108 citations Open access
Semantic Scholar
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia
F. Abidi, L. Holloway, C. Moore, D. Weaver +4 more
2008Journal of Medical Genetics103 citations Open access
Semantic Scholar
Renpenning syndrome comes into focus
R. Stevenson, C. Bennett, F. Abidi, T. Kleefstra +5 more
2005American Journal of Medical Genetics. Part A97 citations
Semantic Scholar
Longitudinal study of cognitive abilities and adaptive behavior levels in fragile X males: a prospective multicenter analysis.
G. Fisch, R. Simensen, J. Tarleton, M. Chalifoux +4 more
1996American journal of medical genetics90 citations
Semantic Scholar
Natural History of Christianson Syndrome
Richard J. Schroer, K. Holden, P. Tarpey, Maria Giselle Matheus +8 more
2010American Journal of Medical Genetics. Part A79 citations Open access
Semantic Scholar
Fragile X syndrome: growth, development, and intellectual function.
L. Prouty, R. C. Rogers, R. E. Stevenson, Jane H. Dean +4 more
1988American journal of medical genetics60 citations
Semantic Scholar
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study
M. Friez, S. Brooks, R. Stevenson, M. Field +20 more
2016BMJ Open59 citations Open access
Semantic Scholar
Absence of MeCP2 mutations in patients from the South Carolina autism project
Fe Lobo-Menendez, K. Sossey-Alaoui, J. M. Bell, Susan A. Copeland-Yates +6 more
2003American Journal of Medical Genetics Part B: Neuropsychiatric Genetics55 citations
Semantic Scholar
Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism
Shambhu S. Bhat, S. Ladd, F. Grass, J. E. Spence +6 more
2007Clinical Genetics51 citations
Semantic Scholar
Allan-Herndon syndrome. I. Clinical studies.
R. Stevenson, H. Goodman, Charles E. Schwartz, R. Simensen +2 more
1990American Journal of Human Genetics51 citations
Semantic Scholar
Studies of age‐correlated features of cognitive‐behavioral development in children and adolescents with genetic disorders
G. Fisch, N. Carpenter, P. Howard-Peebles, J. J. A. Holden +3 more
2007American Journal of Medical Genetics. Part A48 citations
Semantic Scholar
Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X‐linked intellectual disability associated with behavioral problems and mild dysmorphism
Karl J. Franek, J. Butler, John P. Johnson, R. Simensen +9 more
2011American Journal of Medical Genetics. Part A44 citations
Semantic Scholar
Longitudinal assessment of adaptive and maladaptive behaviors in fragile X males: growth, development, and profiles.
G. Fisch, N. Carpenter, J. J. A. Holden, R. Simensen +4 more
1999American journal of medical genetics42 citations
Semantic Scholar
Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin–Lowry syndrome
S. Kesler, R. Simensen, Kytja K. S. Voeller, F. Abidi +3 more
2007Neurogenetics35 citations Open access
Semantic Scholar
Cognitive‐behavioral features of Wolf–Hirschhorn syndrome and other subtelomeric microdeletions
G. Fisch, P. Grossfeld, R. Falk, A. Battaglia +2 more
2010American Journal of Medical Genetics. Part C, Seminars in Medical Genetics32 citations
Semantic Scholar
Cognitive‐behavioral features of children with Wolf–Hirschhorn syndrome: Preliminary report of 12 cases
G. Fisch, A. Battaglia, B. Parrini, J. Youngblom +1 more
2008American Journal of Medical Genetics. Part C, Seminars in Medical Genetics30 citations
Semantic Scholar
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome
Michael J. Lyons, John M. Graham, Giovanni Neri, Alasdair G. W. Hunter +11 more
2008Journal of Medical Genetics29 citations
Semantic Scholar
Evidence that SIZN1 is a Candidate X-Linked Mental Retardation Gene
Ginam Cho, Shambhu S. Bhat, Jin-Song Gao, J. S. Collins +5 more
2008American Journal of Medical Genetics. Part A29 citations Open access
Semantic Scholar
Relationship between age and IQ among fragile X males: a multicenter study.
G. Fisch, T. Arinami, Ursula G. Froster-Iskenius, J. Fryns +6 more
1991American journal of medical genetics28 citations
Semantic Scholar
The course of cognitive‐behavioral development in children with the FMR1 mutation, Williams–Beuren syndrome, and neurofibromatosis type 1: The effect of gender
G. Fisch, N. Carpenter, P. Howard-Peebles, J. J. A. Holden +2 more
2010American Journal of Medical Genetics. Part A27 citations
Semantic Scholar
Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies
Shambhu S. Bhat, K. Schmidt, S. Ladd, K. C. Kim +5 more
2005Cytogenetic and Genome Research27 citations
Semantic Scholar
Duplication‐deletion syndrome in a family with pericentric inversion of chromosome 6
R. Schroer, Donna M. Culp, R. E. Stevenson, W. Potts +2 more
1980Clinical Genetics26 citations
Semantic Scholar
Developmental trajectories in syndromes with intellectual disability, with a focus on Wolf-Hirschhorn and its cognitive-behavioral profile.
G. Fisch, N. Carpenter, P. Howard-Peebles, J. Holden +3 more
2012American Journal on Intellectual and Developmental Disabilities25 citations
Semantic Scholar
Behavior of 10 patients with FG Syndrome (Opitz-Kaveggia Syndrome) and the p.R961W Mutation in the MED12 Gene
John M. Graham, J. Visootsak, E. Dykens, Lillie Huddleston +10 more
2008American Journal of Medical Genetics. Part A24 citations Open access
Semantic Scholar
Fragile X syndrome: a common etiology of mental retardation.
R. C. Rogers, R. Simensen
1987American journal of mental deficiency22 citations
Semantic Scholar
Cognitive function in Coffin–Lowry syndrome
R. Simensen, F. Abidi, J. S. Collins, Charles E. Schwartz +1 more
2002Clinical Genetics20 citations
Semantic Scholar
Longitudinal changes in IQ among fragile X males: clinical evidence of more than one mutation?
G. Fisch, L. Shapiro, R. Simensen, Charles E. Schwartz +6 more
1992American journal of medical genetics18 citations
Semantic Scholar
Short-term memory deficits in carrier females with KDM5C mutations.
R. Simensen, R. C. Rogers, J. S. Collins, F. Abidi +2 more
2012Genetic Counseling15 citations
Semantic Scholar
Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome.
Roger E. Stevenson, M. May, J. Arena, E. Millar +5 more
1994American journal of medical genetics15 citations
Semantic Scholar
Intellectual functioning in alpha‐mannosidosis
S. Cathey, Sara M. Sarasua, R. Simensen, K. Pietris +4 more
2019JIMD Reports14 citations Open access
Semantic Scholar
Is fragile X syndrome a pervasive developmental disability? Cognitive ability and adaptive behavior in males with the full mutation.
G. Fisch, J. J. A. Holden, R. Simensen, N. Carpenter +5 more
1994American journal of medical genetics14 citations
Semantic Scholar
Asymmetry of methylation with FMR-1 full mutation in two 45,X/46,XX mosaic females associated with normal intellect.
L. Shapiro, R. Simensen, Patrick L. Wilmot, G. Fisch +4 more
1994American journal of medical genetics13 citations
Semantic Scholar
Deletion involving D15S113 in a mother and son without Angelman syndrome: refinement of the Angelman syndrome critical deletion region.
Ron C. Michaelis, Steven A. Skinner, Bonné A. Lethco, R. Simensen +3 more
1995American journal of medical genetics12 citations
Semantic Scholar
Longitudinal changes in IQ among fragile X females: a preliminary multicenter analysis.
G. Fisch, R. Simensen, T. Arinami, M. Borghgraef +1 more
1994American journal of medical genetics12 citations
Semantic Scholar
Autistic Disorder: A 20 Year Chronicle
C. Skinner, R. Pauly, S. Skinner, R. Schroer +5 more
2020Journal of Autism and Developmental Disorders11 citations
Semantic Scholar
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.
F. Abidi, L. Holloway, C. Moore, D. Weaver +4 more
2009Human Genetics11 citations
Semantic Scholar
Finding new etiologies of mental retardation and hypotonia: X marks the spot
R. Rogers, R. E. Stevenson, R. Simensen, K. Holden +1 more
2008Developmental Medicine & Child Neurology11 citations
Semantic Scholar
Fragile-X syndrome.
R. Simensen, R. C. Rogers
1989American Family Physician11 citations
Semantic Scholar
Lack of association between mutation size and cognitive/behavior deficits in fragile X males: a brief report.
G. Fisch, N. Carpenter, P. Howard-Peebles, A. Maddalena +5 more
1996American journal of medical genetics10 citations
Semantic Scholar
The HOPA Gene Dodecamer Duplication Is Not a Significant Etiological Factor in Autism
R. Michaelis, Susan A. Copeland-Yates, K. Sossey-Alaoui, C. Skinner +5 more
2000Journal of Autism and Developmental Disorders9 citations
Semantic Scholar
Longitudinal changes in cognitive-behavioral levels in three children with FRAXE.
G. Fisch, N. Carpenter, R. Simensen, Arie P. T. Smits +2 more
1999American journal of medical genetics9 citations
Semantic Scholar

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P. Tarpey — researcher profile on SciRah