Publications by authors named "Richard Simensen"

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Autistic Disorder: A 20 Year Chronicle.
Cindy Skinner, Rini Pauly, Steven A Skinner, Richard J Schroer, Richard J Simensen

J Autism Dev Disord· February 2021

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Intellectual functioning in alpha-mannosidosis.
Sara S Cathey, Sara M Sarasua, Richard Simensen, Katie Pietris, Gordon Kimbrell

JIMD Rep· November 2019

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HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.
Michael J Friez, Susan Sklower Brooks, Roger E Stevenson, Michael Field, Monica J Basehore, Richard J Simensen

BMJ Open· April 2016

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Developmental trajectories in syndromes with intellectual disability, with a focus on Wolf-Hirschhorn and its cognitive-behavioral profile.
Gene S Fisch, Nancy Carpenter, Patricia N Howard-Peebles, Jeanette J A Holden, Jack Tarleton, Richard Simensen

Am J Intellect Dev Disabil· March 2012

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Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism.
Karl J Franek, Julia Butler, John Johnson, Richard Simensen, Michael J Friez

Am J Med Genet A· May 2011

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Natural history of Christianson syndrome.
Richard J Schroer, Kenton R Holden, Patrick S Tarpey, Maria Giselle Matheus, David A Griesemer, Richard J Simensen

Am J Med Genet A· November 2010

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Cognitive-behavioral features of Wolf-Hirschhorn syndrome and other subtelomeric microdeletions.
Gene S Fisch, Paul Grossfeld, Rena Falk, Agatino Battaglia, Janey Youngblom, Richard Simensen

Am J Med Genet C Semin Med Genet· November 2010

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The course of cognitive-behavioral development in children with the FMR1 mutation, Williams-Beuren syndrome, and neurofibromatosis type 1: The effect of gender.
Gene S Fisch, Nancy Carpenter, Patricia N Howard-Peebles, Jeanette J A Holden, Jack Tarleton, Richard Simensen

Am J Med Genet A· June 2010

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Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.
Fatima Abidi, Lynda Holloway, Cynthia A Moore, David D Weaver, Richard J Simensen

Hum Genet· April 2009

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Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.
Fatima Abidi, Lynda Holloway, Cynthia A Moore, David D Weaver, Richard J Simensen

Hum Genet· April 2009

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Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.
Fatima Abidi, Lynda Holloway, Cynthia A Moore, David D Weaver, Richard J Simensen

Hum Genet· April 2009

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Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene.
John M Graham, Jeannie Visootsak, Elisabeth Dykens, Lillie Huddleston, Robin D Clark, Richard Simensen

Am J Med Genet A· December 2008

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Cognitive-behavioral features of children with Wolf-Hirschhorn syndrome: preliminary report of 12 cases.
Gene S Fisch, Agatino Battaglia, Barbara Parrini, Janey Youngblom, Richard Simensen

Am J Med Genet C Semin Med Genet· November 2008

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Evidence that SIZN1 is a candidate X-linked mental retardation gene.
Ginam Cho, Shambhu S Bhat, Jinsong Gao, Julianne S Collins, R Curtis Rogers, Richard J Simensen

Am J Med Genet A· October 2008

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Finding new etiologies of mental retardation and hypotonia: X marks the spot.
R Curtis Rogers, Roger E Stevenson, Richard J Simensen, Kenton R Holden, Charles E Schwartz

Dev Med Child Neurol· February 2008

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Studies of age-correlated features of cognitive-behavioral development in children and adolescents with genetic disorders.
Gene S Fisch, Nancy Carpenter, Patricia N Howard-Peebles, Jeanette J A Holden, Jack Tarleton, Richard Simensen

Am J Med Genet A· October 2007

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Craniofacioskeletal syndrome: an X-linked dominant disorder with early lethality in males.
Roger E Stevenson, Cam K Brasington, Cindy Skinner, Richard J Simensen, J Edward Spence

Am J Med Genet A· October 2007

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Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
Patrick S Tarpey, F Lucy Raymond, Lam S Nguyen, Jayson Rodriguez, Anna Hackett, Richard J Simensen

Nat Genet· September 2007

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The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.
Charles E Schwartz, Patrick S Tarpey, Herbert A Lubs, Alain Verloes, Melanie M May, Richard J Simensen

J Med Genet· July 2007

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Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestations.
Michael Marble, Kytja S Voeller, Melanie M May, Roger E Stevenson, Charles E Schwartz, Richard J Simensen

Am J Med Genet A· July 2007

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Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome.
Shelli R Kesler, Richard J Simensen, Kytja Voeller, Fatima Abidi, Roger E Stevenson

Neurogenetics· April 2007

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Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.
Michael J Friez, Julie R Jones, Katie Clarkson, Herbert Lubs, Dianne Abuelo, Richard Simensen

Pediatrics· December 2006

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Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.
Patrick S Tarpey, Claire Stevens, Jon Teague, Sarah Edkins, Sarah O'Meara, Richard J Simensen

Am J Hum Genet· December 2006

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Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.
Charles E Schwartz, Melanie M May, Nancy J Carpenter, R Curtis Rogers, Judith Martin, Richard J Simensen

Am J Hum Genet· July 2005

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X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.
A Lauren Cason, Yoshihiko Ikeguchi, Cindy Skinner, Tim C Wood, Kenton R Holden, Richard J Simensen

Eur J Hum Genet· December 2003

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