I. Aligianis

发表

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Colin A. Johnson, D. Horn, S. Mundlos, 2005, Nature Genetics.

Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the α-subunit of cone specific transducin (GNAT2)

J. Mollon, D. Hunt, M. Michaelides, 2003, The British journal of ophthalmology.

Achromatopsia caused by novel mutations in both CNGA3 and CNGB3

J. Mollon, D. Hunt, M. Michaelides, 2004, Journal of Medical Genetics.

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins

Mark T. Handley, I. Jackson, R. Ribchester, 2017, American journal of human genetics.

Mutations in PLAA cause a lethal infantile epileptic encephalopathy by disrupting ubiquitin-mediated endolysosomal degradation of synaptic proteins

Mark T. Handley, R. Ribchester, C. Woods, 2017 .

Progressive cone dystrophy associated with mutation in CNGB3.

J. Mollon, D. Hunt, M. Michaelides, 2004, Investigative ophthalmology & visual science.

A Novel Mouse Model of Warburg Micro Syndrome Reveals Roles for RAB18 in Eye Development and Organisation of the Neuronal Cytoskeleton Running title: Pathology of WARBM in RAB18 mice

Mark T. Handley, I. Jackson, Harris Morrison, 2014 .

A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton

Mark T. Handley, I. Jackson, Harris Morrison, 2014, Disease Models & Mechanisms.

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

Mark T. Handley, J. Graham, F. Müller, 2011, American journal of human genetics.

Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.

Mark T. Handley, B. Hartmann, A. Ebert, 2013, American journal of human genetics.

Sacrococcygeal chordomas in patients with tuberous sclerosis complex show somatic loss of TSC1 or TSC2

A. Stemmer-Rachamimov, J. Sampson, V. Ramesh, 2004, Genes, chromosomes & cancer.

Explorer A novel mouse model of Warburg Micro Syndrome reveals roles for RAB 18 in eye development and organisation of the neuronal cytoskeleton

Mark T. Handley, I. Jackson, Harris Morrison, 2016 .

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

Colin A. Johnson, J. Tolmie, H. Brunner, 2006, American journal of human genetics.

Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the α subunit of cone transducin (GNAT2)

D. Hunt, T. Forshew, R. Trembath, 2002, Journal of medical genetics.

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat

Colin A. Johnson, R. Trembath, V. Torres, 2006, Nature Genetics.

Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

Mark T. Handley, I. Jackson, I. Glass, 2013, Human mutation.

RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.

Mark T. Handley, I. Aligianis, 2012, Biochemical Society transactions.

Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.

Colin A. Johnson, R. Hennekam, R. Trembath, 2006, American journal of human genetics.

Germline SDHD mutation in familial phaeochromocytoma

D. Evans, C. Eng, E. Maher, 2001, The Lancet.

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

Martin S. Taylor, Mark T. Handley, I. Jackson, 2014, Molecular genetics & genomic medicine.

22q11 deletion: a multisystem disorder requiring multidisciplinary input

H. Cox, I. Aligianis, P. Lunt, 2003, Archives of disease in childhood.

Explorer Loss of ALDH 18 A 1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3 A and Warburg Micro syndrome

Martin S. Taylor, Mark T. Handley, I. Jackson, 2017 .

Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

Mark T. Handley, I. Jackson, D. Fitzpatrick, 2015, Open Biology.

Rab18 and a Rab18 GEF complex are required for normal ER structure

Mark T. Handley, F. Barr, S. Yoshimura, 2014, The Journal of cell biology.

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy

Robert W. Taylor, Mark T. Handley, A. von Kriegsheim, 2019, PLoS genetics.

ITPase Deficiency Causes Martsolf Syndrome With a Lethal Infantile Dilated Cardiomyopathy

Robert W. Taylor, Mark T. Handley, A. von Kriegsheim, 2018, bioRxiv.

Phenotypic variability in Micro syndrome: report of new cases.

I. Aligianis, G. Abdel-Salam, N. Hassan, 2007, Genetic counseling.

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

Mark T. Handley, J. Graham, F. Müller, 2011, American journal of human genetics.

Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis

Mark T. Handley, D. Lütjohann, I. Aligianis, 2023, The Journal of biological chemistry.

Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome (vol 88, pg 499, 2011)

J. Graham, F. Müller, W. Dobyns, 2011 .