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Graeme Charles M. Black

Graeme Charles M. Black,University of Manchester,Genetics & Genealogy,Ophthalmology,Molecular Biology

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Graeme Charles M. Black

University of Manchester

Publications: 100 | Citations: 1804

Fields: Genetics & Genealogy, Ophthalmology, Molecular Biology

Collaborated with 762 co-authors from 1993 to 2012 | Cited by 7140 authors

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Publications (100)

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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum (Citations: 1)

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Journal: European Journal of Human Genetics - EUR J HUMAN GENET , vol. 20, no. 4, pp. 381-388, 2012

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

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Journal: Nature Genetics - NAT GENET , vol. 43, no. 2, pp. 127-131, 2011

Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

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Journal: American Journal of Human Genetics - AMER J HUM GENET , vol. 89, no. 5, pp. 675-681, 2011

The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members

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Journal: Febs Letters - FEBS LETT , vol. 585, no. 14, pp. 2187-2192, 2011

Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Bandlike Calcification with Simplified Gyration and Polymicrogyria (Citations: 3)

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Journal: American Journal of Human Genetics - AMER J HUM GENET , vol. 87, no. 3, pp. 354-364, 2010

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Co-authors (762)

Journals (31)

Keywords (154)

Graeme Charles M. Black,University of Manchester,Genetics & Genealogy,Ophthalmology,Molecular Biology

Publications (100)

BibTeX | RIS | RefWorks Download

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum (Citations: 1)

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members

Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Bandlike Calcification with Simplified Gyration and Polymicrogyria (Citations: 3)

Citations (1804 times by 1564 publications)

WNT16 Influences Bone Mineral Density, Cortical Bone Thickness, Bone Strength, and Osteoporotic Fracture Risk

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44

Wnt5a-Ror2 signaling between osteoblast-lineage cells and osteoclast precursors enhances osteoclastogenesis

GRHL3/GET1 and Trithorax Group Members Collaborate to Activate the Epidermal Progenitor Differentiation Program

Rapid-Throughput Skeletal Phenotyping of 100 Knockout Mice Identifies 9 New Genes That Determine Bone Strength


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Graeme Charles M. Black,University of Manchester,Genetics & Genealogy,Ophthalmology,Molecular Biology

Publications (100) BibTeX | RIS | RefWorks Download

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum (Citations: 1)

Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Bandlike Calcification with Simplified Gyration and Polymicrogyria (Citations: 3)

Publications (100)

BibTeX | RIS | RefWorks Download