M. Whiteford

发表

Mutations in Kelch-like 3 and Cullin 3 cause hypertension and electrolyte abnormalities

Jai Radhakrishnan, Murim Choi, Robert Bjornson, 2012, Nature.

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

Aetiopathology and genetic basis of neonatal diabetes

I. Temple, M. Whiteford, J. Shield, 1997, Archives of disease in childhood. Fetal and neonatal edition.

2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Alessandro, G. J. Swaminathan, A. Green, 2019 .

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

A. Hoischen, B. D. de Vries, L. S. Lucas, 2013, Orphanet Journal of Rare Diseases.

Genetic Aspects of Hypospadias

M. Whiteford, 2004 .

De novo translocation (1; 2)(q32; p25) associated with bilateral renal dysplasia

D. Fitzpatrick, M. Whiteford, S. Joss, 2003, Clinical genetics.

Differential cytokine secretion results from p65 and c-Rel NF-κB subunit signaling in peripheral blood mononuclear cells of TNF receptor-associated periodic syndrome patients.

G. Hitman, K. Minden, S. McKee, 2011, Cellular immunology.

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

B. V. van Bon, A. Hoischen, H. Brunner, 2017, Journal of Medical Genetics.

Bilateral Renal Agenesis/Hypoplasia/Dysplasia (BRAHD): Postmortem Analysis of 45 Cases with Breakpoint Mapping of Two De Novo Translocations

D. Fitzpatrick, M. Whiteford, J. Fantes, 2010, PloS one.

Bilateral renal agenesis / hypoplasia / dysplasia ( BRAHD )

D. Fitzpatrick, M. Whiteford, J. Fantes, 2010 .

Townes‐Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region

E. Zackai, V. Shashi, F. Elmslie, 2007, Human mutation.

Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility

N. Burrows, M. Whiteford, D. Baker, 2019, Genetics in Medicine.

Uniparental isodisomy for chromosome 16 in a growth‐retarded infant with congenital heart disease

J. Tolmie, M. Whiteford, G. Lowther, 1995, Prenatal diagnosis.

Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome

W. Reardon, G. Mortier, O. Klein, 2011, American journal of medical genetics. Part A.

The phenotype of Floating–Harbor syndrome in 10 patients

S. Knight, R. Houlston, J. Hurst, 2010, American journal of medical genetics. Part A.

The phenotype of floating-harbor syndrome

A. Hoischen, L. S. Lucas, J. Allanson, 2016 .

Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes.

J. Tolmie, M. Whiteford, A. Cooke, 1997, Journal of medical genetics.

SALL1 mutation analysis in Townes‐Brocks syndrome: twelve novel mutations and expansion of the phenotype

A. Green, J. Mcgaughran, M. Whiteford, 2005, Human mutation.

Holoprosencephaly in the west of Scotland 1975-1994.

J. Tolmie, M. Whiteford, M. L. Whiteford, 1996, Journal of medical genetics.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

A. Green, D. Bonthron, E. Bertini, 2007, American journal of human genetics.

The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects

R. Trembath, W. Wuyts, M. Zenker, 2009, American journal of medical genetics. Part A.

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Jacek Majewski, 2012, American journal of human genetics.

A case of Acro-renal-mandibular syndrome in an 18 week male fetus.

M. Whiteford, J. MacKenzie, E. Tobias, 2001, Clinical dysmorphology.

Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.

R. Spritz, E. Legius, E. Héon, 1998, American journal of human genetics.

A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: Genetic heterogeneity of McKusick–Kaufman syndrome or a unique syndrome?

A. Dutra, L. Biesecker, A. Slavotinek, 2004, American journal of medical genetics. Part A.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, G. J. Swaminathan, A. Green, 2019 .

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Mark T. Handley, M. Hurles, D. Grozeva, 2017, Genetics in Medicine.

Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing

Sancha Martin, E. Tobias, A. Biankin, 2022, European Journal of Human Genetics.

Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

W. Reardon, F. McKenzie, P. Itin, 2018, Human mutation.

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Marc S. Williams, J. Shendure, D. Nickerson, 2014, American journal of human genetics.

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Sahar Mansour, Dierk Niessing, James J Dowling, 2017, Journal of Medical Genetics.

FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.

J. Clayton-Smith, J. Goodship, H. Stewart, 2008, American journal of human genetics.

Towards earlier diagnosis of 22q11 deletions

J. Tolmie, E. Tobias, M. Whiteford, 1999, Archives of disease in childhood.

Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis

P. Soler-Palacín, V. Wahn, H. von Bernuth, 2021, Journal of Clinical Immunology.

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

R. Hennekam, H. Kayserili, P. Lapunzina, 2018, European Journal of Human Genetics.

Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes.

G. Hitman, J. Yagüe, K. Minden, 2003, Arthritis and rheumatism.

Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen

Ole Lund, Lisbeth Tranebjærg, Maria Bitner-Glindzicz, 2000, Human Genetics.

Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia

M. Whiteford, T. Johnston, G. Stewart, 1997, Prenatal diagnosis.

Clinical features and respiratory complications in Myhre syndrome.

J. Tolmie, R. McGowan, M. Whiteford, 2011, European journal of medical genetics.

A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the α-fucosidase gene

J. Connor, M. Whiteford, B. Winchester, 1998, Journal of Inherited Metabolic Disease.

Outcome of Burkholderia (Pseudomonas) cepacia colonisation in children with cystic fibrosis following a hospital outbreak.

M. Whiteford, J. Paton, J. Paton, 1995, Thorax.

Novel features in auriculo-condylar syndrome

R. McGowan, M. Whiteford, D. Koppel, 2011, Clinical dysmorphology.

Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays.

Richard S Houlston, J. Tolmie, R. Houlston, 2004, Nucleic acids research.

A child with bisatellited, dicentric chromosome 15 arising from a maternal paracentric inversion of chromosome 15q

M. Whiteford, S. Kinmond, H. Davidson, 2000, Journal of medical genetics.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

fibrosis following a hospital outbreak . cepacia colonisation in children with cystic Outcome of Burkholderia ( Pseudomonas )

M. Whiteford, J. Paton, J. Michie, 2022 .

Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis

E. Sprecher, M. Whiteford, P. Galloway, 2011, Journal of Bone and Mineral Metabolism.

Autosomal dominant spastic paraplegia

D. Rubinsztein, M. Rhodes, M. Whiteford, 1999, Neurology.

Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity

A. Green, S. Robertson, G. Mortier, 2006, American journal of medical genetics. Part A.

Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility

N. Burrows, M. Whiteford, D. Baker, 2019, Genetics in Medicine.

Disease‐associated mutations in the actin‐binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

S. Robertson, K. Devriendt, G. Scarano, 2012, Human mutation.

Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen

M. Pembrey, M. Bitner-Glindzicz, L. Larsen, 2000, Human Genetics.

Craniosynostosis associated with intracranial calcification: a novel recessive syndrome

J. Tolmie, M. Whiteford, D. Koppel, 2003, Clinical dysmorphology.

Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta

A. De Paepe, M. Whiteford, P. Coucke, 2015, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Differential cytokine secretion resulting from p65 and c-Rel NF-kappaB subunit signaling in peripheral blood mononuclear cells of TNFR-associated periodic fever syndrome patients

G. Hitman, K. Minden, S. McKee, 2011 .

The regulation of membrane 125I‐ and 86Rb+ permeability in a virally transformed cell line (NCL‐SG3) derived from the human sweat gland epithelium

Godfrey L. Smith, H. Y. Elder, J. Pediani, 1994, Experimental physiology.

Title The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Permalink

A. Hoischen, L. S. Lucas, E. Bongers, 2013 .

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, American journal of human genetics.

A new case of Myhre syndrome.

J. Tolmie, M. Whiteford, A. Hollman, 2001, Clinical dysmorphology.

Occurrence of nasal dermoid cysts in a family with a single maxillary median central incisor: extending the clinical spectrum.

G. Gazdagh, M. Whiteford, M. Sangra, 2017, Clinical dysmorphology.

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

R. Hennekam, H. Kayserili, P. Lapunzina, 2018, European Journal of Human Genetics.

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Ibitoye, Fitzpatrick, Connell, 2017, Genetics in Medicine.

Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

W. Reardon, F. McKenzie, P. Itin, 2018, Human mutation.

Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome

W. Reardon, G. Mortier, O. Klein, 2011, American journal of medical genetics. Part A.