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Functional characterization of AC5 gain-of-function variants: Impact on the molecular basis of ADCY5-related dyskinesia

Biochemical pharmacology, 2019-05, Vol.163, p.169-177

2019

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A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations

Neurology, 2005-09, Vol.65 (5), p.741-744

2005

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Mutation of a Putative Mitochondrial Iron Transporter Gene (ABC7) in X-Linked Sideroblastic Anemia and Ataxia (XLSA/A)

Human molecular genetics, 1999-05, Vol.8 (5), p.743-749

1999

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X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction

Blood, 2002-09, Vol.100 (6), p.2040-2045

2002

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Missense Mutations in the Regulatory Domain of PKCγ: A New Mechanism for Dominant Nonepisodic Cerebellar Ataxia

American journal of human genetics, 2003-04, Vol.72 (4), p.839-849

2003

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A p53-Dependent Mouse Spindle Checkpoint

Science (American Association for the Advancement of Science), 1995-03, Vol.267 (5202), p.1353-1356

1995

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Identification of a Novel Gene on Chromosome 7q11.2 Interrupted by a Translocation Breakpoint in a Pair of Autistic Twins

Genomics (San Diego, Calif.), 2002-08, Vol.80 (2), p.129-134

2002

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The natural history of hereditary multiple exostoses

Journal of bone and joint surgery. American volume, 1994-07, Vol.76 (7), p.986-992

1994

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The clinical and genetic spectrum of spinocerebellar ataxia 14

Neurology, 2005-04, Vol.64 (7), p.1258-1260

2005

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A genome scan in multigenerational families with dyslexia: Identification of a novel locus on chromosome 2q that contributes to phonological decoding efficiency

Molecular psychiatry, 2005-07, Vol.10 (7), p.699-711

2005

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Linkage analyses of four regions previously implicated in dyslexia: Confirmation of a locus on chromosome 15q

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2004-11, Vol.131B (1), p.67-75

2004

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Mutations in the EXT1 and EXT2 Genes in Hereditary Multiple Exostoses

American journal of human genetics, 1998-02, Vol.62 (2), p.346-354

1998

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Genomewide scan for real-word reading subphenotypes of dyslexia: Novel chromosome 13 locus and genetic complexity

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2006-01, Vol.141B (1), p.15-27

2006

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Presence of Large Deletions in Kindreds with Autism

American journal of human genetics, 2002-07, Vol.71 (1), p.100-115

2002

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Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32

American journal of medical genetics, 2002-05, Vol.114 (4), p.450-457

2002

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Current Understanding of the Genetic Basis of Reading and Spelling Disability

Learning disability quarterly, 2001-08, Vol.24 (3), p.141-157

Raskind, Wendy H.

2001

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Segregation Analysis of Phenotypic Components of Learning Disabilities. I. Nonword Memory and Digit Span

American journal of human genetics, 2000-09, Vol.67 (3), p.631-646

2000

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Clonal development of myeloproliferative disorders: clues to hematopoietic differentiation and multistep pathogenesis of cancer

Leukemia, 1998-02, Vol.12 (2), p.108-116

1998

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Segregation analysis of phenotypic components of learning disabilities. II. Phonological decoding

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2003-08, Vol.121B (1), p.60-70

2003

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Familial aggregation of dyslexia phenotypes

Behavior genetics, 2000-09, Vol.30 (5), p.385-396

2000

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Phenotype and X inactivation in 45,X/46,X,r(X) cases

American journal of medical genetics, 2004-07, Vol.128A (3), p.276-284

2004

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Loss of Heterozygosity Involving the APC and MCC Genetic Loci Occurs in the Majority of Human Esophageal Cancers

Proceedings of the National Academy of Sciences - PNAS, 1992-04, Vol.89 (8), p.3385-3388

1992

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Converging evidence for attentional influences on the orthographic word form in child dyslexics

Journal of neurolinguistics, 2005-03, Vol.18 (2), p.93-126

2005

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Familial aggregation of dyslexia phenotypes. II: Paired correlated measures

American journal of medical genetics, 2002-05, Vol.114 (4), p.471-478

2002

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Functional characterization of AC5 gain-of-function variants: Impact on the molecular basis of ADCY5-related dyskinesia

A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations

Mutation of a Putative Mitochondrial Iron Transporter Gene (ABC7) in X-Linked Sideroblastic Anemia and Ataxia (XLSA/A)

In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis

X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction

Missense Mutations in the Regulatory Domain of PKCγ: A New Mechanism for Dominant Nonepisodic Cerebellar Ataxia

A p53-Dependent Mouse Spindle Checkpoint

Identification of a Novel Gene on Chromosome 7q11.2 Interrupted by a Translocation Breakpoint in a Pair of Autistic Twins

The natural history of hereditary multiple exostoses

The clinical and genetic spectrum of spinocerebellar ataxia 14

A genome scan in multigenerational families with dyslexia: Identification of a novel locus on chromosome 2q that contributes to phonological decoding efficiency

Linkage analyses of four regions previously implicated in dyslexia: Confirmation of a locus on chromosome 15q

Mutations in the EXT1 and EXT2 Genes in Hereditary Multiple Exostoses

Genomewide scan for real-word reading subphenotypes of dyslexia: Novel chromosome 13 locus and genetic complexity

Presence of Large Deletions in Kindreds with Autism

Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32

Current Understanding of the Genetic Basis of Reading and Spelling Disability

Segregation Analysis of Phenotypic Components of Learning Disabilities. I. Nonword Memory and Digit Span

Clonal development of myeloproliferative disorders: clues to hematopoietic differentiation and multistep pathogenesis of cancer

Segregation analysis of phenotypic components of learning disabilities. II. Phonological decoding

Familial aggregation of dyslexia phenotypes

Phenotype and X inactivation in 45,X/46,X,r(X) cases

Loss of Heterozygosity Involving the APC and MCC Genetic Loci Occurs in the Majority of Human Esophageal Cancers

Converging evidence for attentional influences on the orthographic word form in child dyslexics

Familial aggregation of dyslexia phenotypes. II: Paired correlated measures

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