R. Simensen

发表

Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

R. Stevenson, C. Schwartz, H. Lubs, 2005, American journal of human genetics.

Evidence that SIZN1 is a candidate X‐linked mental retardation gene

C. Schwartz, J. Golden, J. Golden, 2008, American journal of medical genetics. Part A.

Autism and macrocephaly

C. Skinner, R. Stevenson, R. Simensen, 1997, The Lancet.

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands

R. Stevenson, M. Friez, R. Simensen, 2009, Journal of Medical Genetics.

Finding new etiologies of mental retardation and hypotonia: X marks the spot

R. Stevenson, C. Schwartz, R. C. Rogers, 2008, Developmental medicine and child neurology.

Cognitive‐behavioral features of children with Wolf–Hirschhorn syndrome: Preliminary report of 12 cases

A. Battaglia, B. Parrini, G. Fisch, 2008, American journal of medical genetics. Part C, Seminars in medical genetics.

Cognitive‐behavioral features of Wolf–Hirschhorn syndrome and other subtelomeric microdeletions

A. Battaglia, G. Fisch, R. Simensen, 2010, American journal of medical genetics. Part C, Seminars in medical genetics.

Behavior of 10 patients with FG syndrome (Opitz–Kaveggia syndrome) and the p.R961W mutation in the MED12 gene

J. Opitz, R. Stevenson, C. Schwartz, 2008, American journal of medical genetics. Part A.

Longitudinal changes in cognitive-behavioral levels in three children with FRAXE.

B. Hamel, A. Smits, G. Fisch, 1999, American journal of medical genetics.

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia

R. Stevenson, C. Schwartz, C. Moore, 2008, Journal of Medical Genetics.

Intellectual functioning in alpha‐mannosidosis

D. Sillence, R. Simensen, Callum Wilson, 2019, JIMD reports.

Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism

Rebekah K. Stevenson, R. Stevenson, C. Schwartz, 2007, Clinical genetics.

Longitudinal assessment of adaptive and maladaptive behaviors in fragile X males: growth, development, and profiles.

A. Pandya, G. Fisch, W. Nance, 1999, American journal of medical genetics.

Longitudinal study of cognitive abilities and adaptive behavior levels in fragile X males: a prospective multicenter analysis.

G. Fisch, N. Carpenter, R. Simensen, 1996, American journal of medical genetics.

Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X‐linked intellectual disability associated with behavioral problems and mild dysmorphism

C. Skinner, R. Stevenson, C. Schwartz, 2011, American journal of medical genetics. Part A.

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

M. Shaw, J. Gécz, P. Tarpey, 2016, BMJ Open.

Renpenning syndrome comes into focus

R. Stevenson, C. Schwartz, H. Lubs, 2005, American journal of medical genetics. Part A.

Allan-Herndon syndrome. I. Clinical studies.

R. Stevenson, C. Schwartz, R. Simensen, 1990, American journal of human genetics.

Is fragile X syndrome a pervasive developmental disability? Cognitive ability and adaptive behavior in males with the full mutation.

G. Fisch, N. Carpenter, R. Simensen, 1994, American journal of medical genetics.

Longitudinal changes in IQ among fragile X females: a preliminary multicenter analysis.

J. Fryns, T. Arinami, G. Fisch, 1994, American journal of medical genetics.

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

M. Stratton, P. Futreal, S. Edkins, 2007, Journal of Medical Genetics.

Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome

R. Stevenson, C. Schwartz, M. Lyons, 2008, Journal of Medical Genetics.

Craniofacioskeletal syndrome: An X‐linked dominant disorder with early lethality in males

A. Reiss, S. Kesler, C. Skinner, 2007, American journal of medical genetics. Part A.

Autistic Disorder: A 20 Year Chronicle

C. Skinner, R. Stevenson, S. Skinner, 2020, Journal of autism and developmental disorders.

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome

C. Skinner, R. Stevenson, C. Schwartz, 2003, European Journal of Human Genetics.

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

J. Gécz, M. Stratton, P. Futreal, 2007, Nature Genetics.

Autistic Disorder: A 20 Year Chronicle

C. Skinner, R. Stevenson, S. Skinner, 2020, Journal of Autism and Developmental Disorders.

gene MED12 missense mutation (p.N1007S) in the The original Lujan syndrome family has a novel

M. Stratton, S. Edkins, J. Teague, 2008 .

Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28

R. Stevenson, C. Schwartz, P. Giampietro, 2006, Pediatrics.

Relationship between age and IQ among fragile X males: a multicenter study.

C. Schwartz, J. Fryns, U. Froster-Iskenius, 1991, American journal of medical genetics.

Fragile X syndrome: growth, development, and intellectual function.

R. Stevenson, C. Schwartz, R. C. Rogers, 1988, American journal of medical genetics.

Autism and maternally derived aberrations of chromosome 15q.

M. Cuccaro, C. Skinner, R. Stevenson, 1998, American journal of medical genetics.

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, R. Simensen, 2010, American journal of medical genetics. Part A.

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, 2002, Journal of autism and developmental disorders.

Lack of association between mutation size and cognitive/behavior deficits in fragile X males: a brief report.

G. Fisch, N. Carpenter, R. Simensen, 1996, American journal of medical genetics.

Developmental trajectories in syndromes with intellectual disability, with a focus on Wolf-Hirschhorn and its cognitive-behavioral profile.

A. Battaglia, G. Fisch, N. Carpenter, 2012, American journal on intellectual and developmental disabilities.

Longitudinal Changes in Cognitive Ability and Adaptive Behavior in Children and Adolescents with the Fragile X Mutation or Autism.

G. Fisch, R. Simensen, R. Schroer, 2000 .

Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies

R. Stevenson, C. Schwartz, A. Srivastava, 2005, Cytogenetic and Genome Research.

School psychology and medical diagnosis: The fragile X syndrome

R. C. Rogers, R. Simensen, 1989 .

Fragile X syndrome: a common etiology of mental retardation.

R. C. Rogers, R. Simensen, 1987, American journal of mental deficiency.

Studies of age‐correlated features of cognitive‐behavioral development in children and adolescents with genetic disorders

G. Fisch, W. Nance, N. Carpenter, 2007, American journal of medical genetics. Part A.

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.

J. Gécz, M. Stratton, P. Futreal, 2006, American journal of human genetics.

Longitudinal changes in IQ among fragile X males: clinical evidence of more than one mutation?

C. Schwartz, J. Fryns, T. Arinami, 1992, American journal of medical genetics.

Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.

R. Stevenson, C. Schwartz, C. Moore, 2009, Human genetics.

Deletion involving D15S113 in a mother and son without Angelman syndrome: refinement of the Angelman syndrome critical deletion region.

S. Skinner, T. Donlon, R. Simensen, 1995, American journal of medical genetics.

Gene for apparently nonsyndromic X-linked mental retardation (MRX32) maps to an 18-Mb region of Xp21.2-p22.

R. Stevenson, C. Schwartz, H. Lubs, 1999, American journal of medical genetics.

Natural history of Christianson syndrome

M. Stratton, P. Tarpey, R. Stevenson, 2010, American journal of medical genetics. Part A.

State certification of teachers of the MR.

R. Simensen, M. Redding, 1972, Mental retardation.

The HOPA Gene Dodecamer Duplication Is Not a Significant Etiological Factor in Autism

C. Skinner, R. Stevenson, M. Friez, 2000, Journal of autism and developmental disorders.

Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin–Lowry syndrome

A. Reiss, S. Kesler, R. Stevenson, 2007, Neurogenetics.

Short-term memory deficits in carrier females with KDM5C mutations.

R. Stevenson, C. Schwartz, R. C. Rogers, 2012, Genetic counseling.

Absence of MeCP2 mutations in patients from the South Carolina autism project

C. Skinner, K. Sossey-Alaoui, R. Simensen, 2003, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Duplication‐deletion syndrome in a family with pericentric inversion of chromosome 6

R. Stevenson, R. Simensen, R. Schroer, 1980, Clinical genetics.

Pelizaeus‐Merzbacher syndrome: Neurocognitive function in a family with carrier manifestations

R. Stevenson, C. Schwartz, M. Marble, 2007, American journal of medical genetics. Part A.

Bender-Gestalt correlates among normal and retarded students: CA, IQ, and pursuit rotor performance.

R. Simensen, 1974, Journal of clinical psychology.