A. Donnelly

发表

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.

J. Gécz, M. Stratton, P. Futreal, 2004, American journal of human genetics.

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.

E. Haan, J. Gécz, N. Tommerup, 2003, American journal of human genetics.

Explanation for exclusive maternal origin for congenital form of myotonic dystrophy

A. Donnelly, J. Mulley, G. Sutherland, 1993, The Lancet.

How many X-linked genes for non-specific mental retardation (MRX) are there?

A. Donnelly, J. Mulley, G. Turner, 1996, American journal of medical genetics.

The characterisation of human X-linked polymorphic markers and their use in disease gene localisation and identification / Andrew James Donnelly.

A. Donnelly, 1997 .

Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis.

A. Donnelly, J. Mulley, M. Partington, 1994, American journal of medical genetics.

Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation.

J Liu, L Peltonen, J. Gécz, 1999, Genomics.

A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy

E. Haan, A. Donnelly, J. Mulley, 1998 .

Regional localisation of two non-specific X-linked mental retardation genes (MRX30 and MRX31).

A. Donnelly, J. Mulley, M. Partington, 1996, American journal of medical genetics.

Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22.

A. Donnelly, J. Mulley, D. Danks, 1994, American journal of medical genetics.

FRAXE and mental retardation.

D. Loesch, S. Yu, A. Donnelly, 1995, Journal of medical genetics.

Fragile-X syndrome: unique genetics of the heritable unstable element.

D. Loesch, R. Richards, S. Yu, 1992, American journal of human genetics.

A linkage map of microsatellite markers on the human X chromosome.

R. Richards, G. Sutherland, A. Donnelly, 1994, Genomics.

Experience with direct molecular diagnosis of fragile X.

D. Loesch, R. Richards, S. Yu, 1992, Journal of medical genetics.

Direct molecular diagnosis of myotonic dystrophy

E. Haan, A. Donnelly, R. Byard, 1993, Clinical genetics.

Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient

J. Gécz, E. Zackai, N. Spinner, 1999, Human Genetics.

A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia

A. Donnelly, J. Mulley, D. Crimmins, 1996, Human mutation.

A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy. Mutation in brief no. 125. Online.

E. Haan, A. Donnelly, J. Mulley, 1998, Human mutation.

Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence.

L. Kornman, S. Yu, G. Sutherland, 1991, The New England journal of medicine.

THE CHROMOSOME CONSTITUTION OF A HUMAN PHENOTYPIC INTERSEX: RECONFIRMATION OF A 46‐CHROMOSOME, XX, APPARENTLY NON‐MOSAIC “TRUE HERMAPHRODITE”

P. Nowell, D. Hungerford, A. Donnelly, 2009 .