E. Sweeney

发表

Large-scale discovery of novel genetic causes of developmental disorders

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

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Davis J. McCarthy, Calliope A. Dendrou, Lisa J. Murray, 2015, Nature Genetics.

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.

Dian Donnai, Dominik Seelow, Elizabeth Sweeney, 2007, American journal of human genetics.

The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.

H. Brunner, J. Mulliken, S. Twigg, 2006, American journal of human genetics.

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.

A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis

Jeremy A. Sabourin, Alexander F. Wilson, A. F. Wilson, 2020, Human Genetics.

Functional characterization of a novel insulin receptor mutation contributing to Rabson–Mendenhall syndrome

M. Soos, A. Tuthill, E. Sweeney, 2006, Clinical endocrinology.

Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.

B. Gelb, M. Pierpont, E. Sweeney, 2001, American journal of human genetics.

Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans

S. Twigg, A. Wilkie, S. McGowan, 2017, Human molecular genetics.

Pontomedullary disconnection: fetal and neonatal considerations

D. Roberts, E. McCann, E. Sweeney, 2005, Pediatric Radiology.

Altered matrix at the chondro–osseous junction leads to defects in lymphopoiesis

E. Sweeney, O. Jacenko, Douglas W Roberts, 2011, Annals of the New York Academy of Sciences.

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype

R. Pfundt, B. D. de Vries, J. Veltman, 2008, American journal of medical genetics. Part A.

Char syndrome: a new family and review of the literature emphasising the presence of symphalangism and the variable phenotype.

A. Fryer, E. Sweeney, M. Walters, 2000, Clinical dysmorphology.

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

W. Reardon, D. Cooper, Y. Crow, 2005, Journal of Medical Genetics.

Enhancer‐adoption as a mechanism of human developmental disease

Harris Morrison, E. Sweeney, L. Lettice, 2011, Human mutation.

series of 50 patients Molecular and clinical spectrum of type I plasminogen deficiency: a

S. Klebe, S. Seregard, S. Joss, 2012 .

Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients.

G. Veres, M. Irkec, S. Klebe, 2006, Blood.

Nail patella syndrome: a review of the phenotype aided by developmental biology

A. Green, A. Fryer, R. Mountford, 2003, Journal of medical genetics.

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

M. Dattani, P. Hindmarsh, M. Kempers, 2011, The Journal of clinical endocrinology and metabolism.

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

S. Holland, D. Schmidt-Arras, S. Twigg, 2017, The Journal of experimental medicine.

Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)

P. Robinson, H. Brunner, T. Roscioli, 2012, American journal of medical genetics. Part A.

Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.

M. Nöthen, H. Hennies, A. Fryer, 2013, American journal of human genetics.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, 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 .

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.

Mutations in two regions of FLNB result in atelosteogenesis I and III

S. Robertson, D. Rimoin, J. Roume, 2006, Human mutation.

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

S. Robertson, T. de Ravel, H. Firth, 2006, Journal of Medical Genetics.

Skeletogenesis and the Hematopoietic Niche

E. Sweeney, O. Jacenko, 2012 .

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

John Broxholme, Elizabeth Sweeney, Angela F Brady, 2013, Nature Genetics.

Craniofacial anomalies: genetics and management

E. Sweeney, D. Kissun, P. May, 2008 .

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Dagmar Wieczorek, William B. Dobyns, Laurence Faivre, 2014, Nature Genetics.

Congenital Cystic Adenomatoid Malformation of the Lung Coexisting with Recombinant Chromosome 18

E. Sweeney, S. Walkinshaw, D. Roberts, 2001, Fetal Diagnosis and Therapy.

Diagnostic value of exome and whole genome sequencing in craniosynostosis

J. Hurst, Jenny C. Taylor, S. Twigg, 2016, Journal of Medical Genetics.

Defective endochondral ossification-derived matrix and bone cells alter the lymphopoietic niche in collagen X mouse models.

R. Guldberg, E. Sweeney, A. Lin, 2013, Stem cells and development.

Congenic Mice Confirm That Collagen X Is Required for Proper Hematopoietic Development

E. Sweeney, O. Jacenko, Douglas W Roberts, 2010, PloS one.

Altered endochondral ossification in collagen X mouse models leads to impaired immune responses

C. Hunter, E. Sweeney, O. Jacenko, 2008, Developmental dynamics : an official publication of the American Association of Anatomists.

Smith-Magenis syndrome and tetralogy of Fallot

B. Kerr, M. Tofeig, E. Sweeney, 1999, Journal of medical genetics.

Nail Patella Syndrome Revisited: 50 Years After Linkage

J. Hoover-Fong, E. Sweeney, J. A. Dunston, 2005, Annals of human genetics.

, patients in both classical and atypical Rett syndrome gene are foundMECP 2 Gross rearrangements

W. Reardon, D. Cooper, Y. Crow, 2006 .

, in both classical and atypical Rett Syndrome Gross rearrangements of the MECP 2 gene are found

W. Reardon, D. Cooper, Y. Crow, 2005 .

Sotos syndrome: two cases with severe scoliosis.

A. Fryer, E. Sweeney, D. Donnai, 2002, Clinical dysmorphology.

aided by developmental biology Nail patella syndrome: a review of the phenotype

A. Fryer, R. Mountford, E. Sweeney, 2010 .

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.

The human LMX1B gene: transcription unit, promoter, and pathogenic mutations.

R. Mountford, E. Sweeney, J. Sibbring, 2004, Genomics.

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved

M. Warman, L. Racacho, D. Bulman, 2002, Human Genetics.

Dimethyl Fumarate Reduces Inflammation in Chronic Active Multiple Sclerosis Lesions

S. Gauthier, D. Pitt, Thanh D. Nguyen, 2022, Neurology: Neuroimmunology & Neuroinflammation.

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.

A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression

Yu-Qiang Ding, E. Sweeney, Zhou-Feng Chen, 2005, European Journal of Human Genetics.

Nail Patella Syndrome.

J. Hoover-Fong, E. Sweeney, I. Mcintosh, 2014 .

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

Alexander Kanapin, J. Mulliken, J. Broxholme, 2013, Nature Genetics.

Pfeiffer-type cardiocranial syndrome: a patient with features of this condition and with an unbalanced subtelomeric rearrangement involving chromosomes 1p and 17q

E. McCann, E. Sweeney, J. Sills, 2006, Clinical Dysmorphology.

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 molecular and clinical study of Larsen syndrome caused by mutations in FLNB

S. Robertson, H. Firth, D. Rimoin, 2006, Journal of Medical Genetics.

Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap.

D. Roberts, E. Sweeney, Christopher Barton, 2010, Clinical dysmorphology.