K. Prescott

发表

Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice.

K. Steel, P. Scambler, K. Devriendt, 2009, The Journal of clinical investigation.

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

R. Pfundt, O. Pietiläinen, A. Palotie, 2019, Genetics in Medicine.

Large-scale discovery of novel genetic causes of developmental disorders

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

Contribution of retrotransposition to developmental disorders

Patrick J. Short, M. Hurles, P. Danecek, 2018, Nature Communications.

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.

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome

J. Tolmie, E. Tobias, B. Gener, 2010, Human mutation.

Contribution of retrotransposition to developmental disorders

Patrick J. Short, M. Hurles, P. Danecek, 2018, bioRxiv.

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

W. Chung, K. Devriendt, Alison M. Male, 2020, Genetics in Medicine.

PORCN mutations in focal dermal hypoplasia: coping with lethality

K. Grzeschik, K. Prescott, R. Happle, 2009, Human Mutation.

Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature

K. Prescott, A. Fry, S. Berland, 2021, European Journal of Human Genetics.

DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

A. Nicholson, M. Stratton, N. Rahman, 2011, Journal of Medical Genetics.

Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa

K. Heimdal, K. Prescott, F. Sciurba, 2013, Human Mutation.

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Jay F Rowland, M. Hurles, Soo-Mi Park, 2019, The Lancet.

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

J. Rosenfeld, C. Shaw, Soo-Mi Park, 2022, American journal of medical genetics. Part A.

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders

J. Sahel, C. Jubin, T. de Ravel, 2019, Human mutation.

The face of Ulnar Mammary syndrome?

S. Mundlos, J. Tolmie, K. Prescott, 2011, European journal of medical genetics.

Microarray analysis of the Df1 mouse model of the 22q11 deletion syndrome

P. Scambler, K. Prescott, A. Baldini, 2005, Human Genetics.

De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.

Michael F. Wangler, J. Rosenfeld, K. Prescott, 2022, American journal of human genetics.

Focal segmental glomerulosclerosis in a female patient with Donnai-Barrow syndrome.

K. Prescott, S. Joss, M. Longoni, 2010, Clinical dysmorphology.

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

Steven A. Brown, A. Munnich, A. Schröter, 2015, Nature Neuroscience.

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 .

A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome

N. Carter, P. Scambler, K. Prescott, 2004, Human Genetics.

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

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

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

Olivier Poch, Sabine Defoort-Dhellemmes, Xavier Zanlonghi, 2012, American journal of human genetics.

Genetic aspects of birth defects: new understandings of old problems

K. Prescott, A. Wilkie, 2007, Archives of Disease in Childhood - Fetal and Neonatal Edition.

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators

Tomas W. Fitzgerald, Stephen W. Wilson, N. Carter, 2009, Human Genetics.

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

Bradley P. Coe, Jessie H. Conta, B. Coe, 2015, European Journal of Human Genetics.

Velo-Cardio-Facial Syndrome: Molecular genetics of velo-cardio-facial syndrome

P. Scambler, K. Prescott, 2005 .

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Martin S. Taylor, A. Green, M. Bitner-Glindzicz, 2014, Journal of Medical Genetics.

Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome

P. Jeggo, K. Prescott, G. Stewart, 2012, PLoS genetics.

Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome

K. Prescott, W. Newman, R. O’Keefe, 2021, Clinical genetics.

Cystic fibrosis and Russell‐Silver syndrome in a child with maternal isodisomy of chromosome 7

K. Prescott, R. Dinwiddie, C. Wallis, 2005, Pediatric pulmonology.

Mosaicism in ASXL3-related syndrome: Description of five patients from three families.

K. Prescott, N. Hauser, S. Mansour, 2020, European journal of medical genetics.

Whole genome sequencing of mutation-negative individuals with Cornelia de Lange Syndrome

K. Prescott, S. Holden, N. Whiffin, 2022, medRxiv.

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency

Colin A. Johnson, K. Prescott, G. Cook, 2016, The Journal of allergy and clinical immunology.

Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa.

S. Jacobson, D. Burt, K. Prescott, 2011, Investigative ophthalmology & visual science.

Working From Home During the COVID-19 Pandemic

K. Prescott, A. Anis, Wei Zhang, 2022, Journal of occupational and environmental medicine.

Valuation of Lost Productivity in Caregivers: A Validation Study

K. Prescott, A. Anis, Wei Zhang, 2021, Frontiers in Psychology.

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.

Arterial tortuosity syndrome: 40 new families and literature review

K. Devriendt, K. Prescott, H. Dietz, 2018, Genetics in Medicine.

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.

J. Roach, B. D. de Vries, K. Prescott, 2015, American journal of human genetics.

Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease

K. Prescott, A. Childs, M. S. van der Knaap, 2017, Neuropediatrics.

Arterial tortuosity syndrome: 40 new families and literature review

K. Devriendt, K. Prescott, H. Dietz, 2017, Genetics in Medicine.

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.

Heterozygous Loss-of-Function Mutations in DLL 4 Cause Adams-Oliver Syndrome Report

J. Roach, K. Prescott, P. Itin, 2018 .

Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa

K. Heimdal, K. Prescott, F. Sciurba, 2013 .

Velo-Cardio-Facial Syndrome: Molecular genetics of velo-cardio-facial syndrome

P. Scambler, K. Prescott, 2005 .