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Bill H. Diplas

Bill H. Diplas,Duke University,Genetics & Genealogy,Medicine,Cell Biology

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Bill H. Diplas

Duke University

Publications: 5 | Citations: 31

Fields: Genetics & Genealogy, Medicine, Cell Biology

Collaborated with 109 co-authors from 2010 to 2011 | Cited by 280 authors

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Publications (5)

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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum (Citations: 1)

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Journal: Nature Genetics - NAT GENET , vol. 43, no. 3, pp. 189-196, 2011

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes (Citations: 14)

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Journal: Nature Genetics - NAT GENET , vol. 42, no. 7, pp. 619-625, 2010

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping (Citations: 10)

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Journal: Journal of Medical Genetics - J MED GENET , vol. 47, no. 4, pp. 262-267, 2010

Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p (Citations: 4)

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Journal: American Journal of Human Genetics - AMER J HUM GENET , vol. 86, no. 1, pp. 45-53, 2010

Pitchfork Regulates Primary Cilia Disassembly and Left-Right Asymmetry (Citations: 2)

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Journal: Developmental Cell - DEV CELL , vol. 19, no. 1, pp. 66-77, 2010

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Citations (31 times by 30 publications)

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

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Journal: Nature Genetics - NAT GENET , vol. 44, no. 2, pp. 193-199, 2012

Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals (Citations: 7)

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Journal: Human Genetics - HUM GENET , vol. 129, no. 1, pp. 79-90, 2011

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Co-authors (109)

Journals (4)

Keywords (16)

Bill H. Diplas,Duke University,Genetics & Genealogy,Medicine,Cell Biology

Publications (5)

BibTeX | RIS | RefWorks Download

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum (Citations: 1)

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes (Citations: 14)

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping (Citations: 10)

Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p (Citations: 4)

Pitchfork Regulates Primary Cilia Disassembly and Left-Right Asymmetry (Citations: 2)

Citations (31 times by 30 publications)

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals (Citations: 7)

Revisiting Mendelian disorders through exome sequencing (Citations: 5)

Regions of homozygosity and their impact on complex diseases and traits (Citations: 4)

Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms (Citations: 4)


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Co-authors (109)

Journals (4)

Keywords (16)

Bill H. Diplas,Duke University,Genetics & Genealogy,Medicine,Cell Biology

Publications (5) BibTeX | RIS | RefWorks Download

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum (Citations: 1)

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes (Citations: 14)

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping (Citations: 10)

Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p (Citations: 4)

Pitchfork Regulates Primary Cilia Disassembly and Left-Right Asymmetry (Citations: 2)

Citations (31 times by 30 publications)

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals (Citations: 7)

Revisiting Mendelian disorders through exome sequencing (Citations: 5)

Regions of homozygosity and their impact on complex diseases and traits (Citations: 4)

Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms (Citations: 4)

Publications (5)

BibTeX | RIS | RefWorks Download