M. Tassabehji

M. Tassabehji, A. Read, C. Paterson, 1999, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel‐Feil syndrome

M. Tassabehji, J. Mcgaughran, C. D. de Bock, 2008, Human mutation.

A method for specific amplification and PCR sequencing of individual members of multigene families: application to the study of steroid 21-hydroxylase deficiency.

M. Tassabehji, T. Strachan, S. Collier, 1992, PCR methods and applications.

Autosomal dominant inheritance of Williams–Beuren syndrome in a father and son with haploinsufficiency for FKBP6

M. Tassabehji, K. Metcalfe, D. Donnai, 2005, Clinical dysmorphology.

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene

Andrew P. Read, M. Tassabehji, A. Read, 1994, Nature Genetics.

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

J. Clayton-Smith, M. Tassabehji, W. Newman, 2015, European journal of medical genetics.

The mutational spectrum in Waardenburg syndrome.

W. Reardon, M. Tassabehji, E. Obersztyn, 1994, Human molecular genetics.

Elastin: mutational spectrum in supravalvular aortic stenosis

C. Cytrynbaum, W. Reardon, M. Tassabehji, 2000, European Journal of Human Genetics.

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

R. Balling, M. Tassabehji, T. Strachan, 1992, Nature.

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2

M. Tassabehji, M. Patton, T. Strachan, 1993, Nature Genetics.

Williams–Beuren Syndrome: More or less? Segmental duplications and deletions in the Williams–Beuren syndrome region provide new insights into language development

M. Tassabehji, D. Donnai, 2006, European Journal of Human Genetics.

LIM–kinase deleted in Williams syndrome

M. Tassabehji, A. Read, D. Sheer, 1996, Nature Genetics.

Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams–Beuren syndrome

M. Tassabehji, A. Brass, H. Tipney, 2004, European Journal of Human Genetics.

Exploring Williams-Beuren syndrome using myGrid

Carole A. Goble, Andy Brass, Phillip W. Lord, 2004, ISMB/ECCB.

Genome Science performed with e-Science Tools

Robert Stevens, Carole Goble, Phillip Lord, 2004 .

Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients

A. V. Vulto-van Silfhout, A. Hoischen, D. Horn, 2013, Human mutation.

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

J. Clayton-Smith, M. Tassabehji, L. Biesecker, 2011, American journal of human genetics.

Mutation of the MITF gene in albinism‐deafness syndrome (Tietz syndrome)

M. Tassabehji, R. Winter, A. Read, 1998, Clinical dysmorphology.

PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.

M. Tassabehji, T. Strachan, A. Read, 1994, Human molecular genetics.

Claudin 13, a Member of the Claudin Family Regulated in Mouse Stress Induced Erythropoiesis

M. Tassabehji, A. Brass, H. Tipney, 2010, PloS one.

Comparison of TFII‐I gene family members deleted in Williams‐Beuren syndrome

May Tassabehji, M. Tassabehji, A. Brass, 2004, Protein science : a publication of the Protein Society.

Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome

A. Karmiloff-Smith, M. Tassabehji, A. Read, 2003, Journal of medical genetics.

TO JMG Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome

A. Karmiloff-Smith, M. Tassabehji, A. Read, 2003 .

Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.

A. Karmiloff-Smith, J. Grant, W. Reardon, 1999, American journal of human genetics.

Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.

L. Shaffer, J. Lupski, J. Korenberg, 1998, American journal of medical genetics.

Anxious, hypoactive phenotype combined with motor deficits in Gtf2ird1 null mouse model relevant to Williams syndrome

A. Karmiloff-Smith, J. Flint, M. Tassabehji, 2012, Behavioural Brain Research.

GTF2IRD1 in Craniofacial Development of Humans and Mice

Peter Hammond, Dian Donnai, Annette Karmiloff-Smith, 2005, Science.

DNA Copy Number Variations at Chromosome 7p14.1 and Chromosome 14q11.2 Are Associated with Dupuytren's Disease: Potential Role for MMP and Wnt Signaling Pathway

J. S. Watson, M. Tassabehji, A. Bayat, 2012, Plastic and reconstructive surgery.

Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis.

May Tassabehji, M. Tassabehji, Z. Urban, 2006, Methods in molecular medicine.

GTF2IRD1 regulates transcription by binding an evolutionarily conserved DNA motif ‘GUCE’

M. Tassabehji, A. Sharrocks, T. Jowitt, 2007, FEBS letters.

Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.

M. Tassabehji, M Tassabehji, 2003, Human molecular genetics.

A Challenge For Genotype - Phenotype Correlations

M. Tassabehji, 2003 .

A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome

M. Tassabehji, C. Wilmot, A. Read, 1999, European Journal of Human Genetics.

Genome-wide high-resolution screening in Dupuytren's disease reveals common regions of DNA copy number alterations.

J. S. Watson, M. Tassabehji, A. Bayat, 2010, The Journal of hand surgery.

Opposite effects on facial morphology due to gene dosage sensitivity

R. Hennekam, M. Tassabehji, P. Hammond, 2014, Human Genetics.

Social Cognition in Williams Syndrome: Genotype/Phenotype Insights from Partial Deletion Patients

A. Karmiloff-Smith, A. Senju, F. Happé, 2012, Front. Psychology.

Human genetic disease is greatly influenced by the underlying fragility of evolutionarily ancient genes

M. Tassabehji, D. Robertson, Benjamin P. Keith, 2019, bioRxiv.

In-depth analysis of spatial cognition in Williams syndrome: A critical assessment of the role of the LIMK1 gene

Annette Karmiloff-Smith, May Tassabehji, Elaine Funnell, 2006, Neuropsychologia.

Corrigendum: A de novo pathological point mutation at the 21–hydroxylase locus: implications for gene conversion in the human genome

M. Tassabehji, T. Strachan, S. Collier, 1993, Nature Genetics.

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

Christian R Marshall, Alexandre Reymond, Paige Kaplan, 2008, American journal of human genetics.

GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation

M. Tassabehji, C. Biot, J. Thomas-Oates, 2019, Nature Communications.

Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era

M. Tassabehji, A. Brass, Nikita Abramovs, 2019, bioRxiv.

A clinical and genetic study of the Say/Barber/Biesecker/Young‐Simpson type of Ohdo syndrome

J. Clayton-Smith, M. Tassabehji, S. Mansour, 2008, Clinical genetics.

Inefficient Search of Large-Scale Space in Williams Syndrome: Further Insights on the Role of LIMK1 Deletion in Deficits of Spatial Cognition

A. Karmiloff-Smith, B. Hood, M. Tassabehji, 2009, Perception.

Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes

M. Tassabehji, C. Graham, N. Nevin, 1996, Human mutation.

Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories

M. Tassabehji, D. Barton, G. Taylor, 1995, Human mutation.

Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24

S. Mundlos, K. Siminovitch, J. Clayton-Smith, 2008, American journal of medical genetics. Part A.

Functional basic reading skills in Williams syndrome

M. Tassabehji, M. Porter, S. Kohnen, 2018, Developmental neuropsychology.

Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients

A. Karmiloff-Smith, M. Tassabehji, E. Meaburn, 2014, Journal of Neurodevelopmental Disorders.

Spectrum of arterial obstructions caused by one elastin gene point mutation

M. Tassabehji, A. Rauch, G. Buheitel, 2002, European Journal of Pediatrics.