T. Prescott

发表

Syndromic X-linked intellectual disability segregating with a missense variant in RLIM

A. Hoischen, H. Brunner, V. Steen, 2015, European Journal of Human Genetics.

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

Christian Gilissen, Annette Schenck, Koenraad Devriendt, 2012, American journal of human genetics.

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Ivan K. Chinn, Eric A. Smith, J. Lupski, 2017, The Journal of allergy and clinical immunology.

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

E. Zackai, M. Simpson, M. Patton, 2007, American journal of human genetics.

Clinical and mutational spectrum of Mowat-Wilson syndrome.

I. Krantz, K. Devriendt, H. Firth, 2005, European journal of medical genetics.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

R. Pfundt, S. Mehta, M. Roselló, 2017, European Journal of Human Genetics.

Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes.

R. Lyle, G. Matthijs, G. Houge, 2012, European journal of medical genetics.

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

E. Bertini, A. Vanderver, D. Timmann, 2019, Neurology. Genetics.

Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)

O. Mäkitie, W. Cole, T. Prescott, 2011, European Journal of Human Genetics.

Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis

C. Bolger, D. Evans, W. Newman, 2008, Journal of Medical Genetics.

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.

J. Gécz, B. Bloem, S. Berkovic, 2013, Brain : a journal of neurology.

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

J. Hardelin, Jacques Young, D. Lacombe, 2014, The Journal of clinical endocrinology and metabolism.

Partial Response to Sorafenib in a Child With a Myeloid/Lymphoid Neoplasm, Eosinophilia, and a ZMYM2-FLT3 Fusion.

L. Osnes, T. Prescott, R. Hovland, 2020, Journal of pediatric hematology/oncology.

Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life.

T. Prescott, A. Ø. Geirdal, C. Rustad, 2013, European journal of medical genetics.

Microdeletions Including FMR1 in Three Female Patients with Intellectual Disability - Further Delineation of the Phenotype and Expression Studies

Z. Tümer, P. Hoffmann, T. Prescott, 2014, Molecular Syndromology.

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

R. Hennekam, T. Prescott, L. Al-Gazali, 2009, Nature Genetics.

Cherubism: panoramic and CT features in adults.

T. Prescott, J. L. Jensen, K. Storhaug, 2013, Dento maxillo facial radiology.

Prophylactic Allogeneic Hematopoietic Stem Cell Therapy for CSF1R ‐Related Leukoencephalopathy

T. Prescott, J. Aasly, M. Horn, 2022, Movement disorders : official journal of the Movement Disorder Society.

[Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway].

A. Molven, P. Njølstad, O. Søvik, 2009, Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke.

KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.

H. Rehm, H. Lerche, H. Bolz, 2021, Human molecular genetics.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Meghan C Towne, Sharyn A. Lincoln, Stephan J Sanders, 2017, American journal of human genetics.

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.

P. Kwok, K. Devriendt, R. Desnick, 2013, Human molecular genetics.

Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distribution.

H. Peeters, K. Devriendt, B. Hamel, 2006, European journal of medical genetics.

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

J. Clayton-Smith, B. Lorenz, I. Temple, 2016, PloS one.

Syddansk Universitet Genetic Analysis of ' PAX 6-Negative ' Individuals with Aniridia or Gillespie Syndrome

Stephen, Anthony, I.., 2016 .

Two male sibs with severe micrognathia and a missense variant in MED12.

J. Lupski, R. Gibbs, D. Muzny, 2016, European journal of medical genetics.

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.

J. Lupski, D. Muzny, S. Jhangiani, 2016, American journal of human genetics.

Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin

J. Hoenicka, J. Baptista, A. Fry, 2021, American journal of medical genetics. Part A.

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.

Gunnar Houge, Stefan Johansson, Martin S. Taylor, 2014, American journal of human genetics.

Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b

T. Prescott, F. Rezwan, D. Mackay, 2014, European Journal of Human Genetics.

Posterior helical pits.

R. Hennekam, T. Prescott, 2007, European Journal of Medical Genetics.

Distal phalangeal creases--a distinctive dysmorphic feature in disorders of the RAS signalling pathway?

A. Molven, T. Prescott, T. Tangeraas, 2007, European journal of medical genetics.

[Determination of chromosome aberrations with the help of DNA arrays].

G. Houge, T. Prescott, R. Hovland, 2010, Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Neil H. Parker, Dylan M. Marchione, R. Redon, 2020, Science Advances.

Positive response to imatinib in PDGFRB‐related Kosaki overgrowth syndrome

T. Prescott, C. Rustad, C. Bredrup, 2021, American journal of medical genetics. Part A.

A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus

T. Kleefstra, T. Prescott, M. Jongmans, 2018, Genetics in Medicine.

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.

Tzung-Chien Hsieh, P. Krawitz, C. Gilissen, 2019, American journal of human genetics.

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

Mark T. Handley, I. Temple, P. Clouston, 2016, American journal of human genetics.

Exon trapping analysis of c.301-19G > A in intron 1 of the SHH gene in a patient with a microform of holoprosencephaly.

R. Lyle, T. Prescott, H. Sorte, 2011, European journal of medical genetics.

Neurofibromatosis type 2: Multiple intra‐dermal tumors in a toddler

D. Evans, S. Huson, T. Prescott, 2017, American journal of medical genetics. Part A.

Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene

E. Ormerod, G. Houge, T. Prescott, 2007, American journal of medical genetics. Part A.

Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection

A. Stray-Pedersen, T. Prescott, O. Rødningen, 2009, Clinical dysmorphology.

An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion

V. Steen, G. Houge, H. Breilid, 2009, European Journal of Human Genetics.

A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation.

D. Horn, K. Rosendahl, D. Fitzpatrick, 2015, European journal of medical genetics.

Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG.

J. Aicardi, A. Server, T. Prescott, 2004, Clinical dysmorphology.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

R. Pfundt, S. Mehta, M. Roselló, 2017, European Journal of Human Genetics.

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

J. Hurst, A. Clarke, M. Greenslade, 2017, European Journal of Human Genetics.

Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis

M. Vikkula, T. Prescott, L. Boon, 2021, Journal of Medical Genetics.

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.

A 5.8 kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome.

T. Prescott, T. Lundar, B. Stadheim, 2013, Gene.

Biallelic mutation of SUPV3L1 causes an inherited leukodystrophy-associated neurodevelopmental disorder due to aberrant mitochondrial double stranded RNA processing

R. Maroofian, D. Calame, K. Õunap, 2023, medRxiv.

Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life.

T. Prescott, C. Rustad, J. L. Jensen, 2013, European journal of medical genetics.

[Determination of chromosome aberrations with the help of DNA arrays].

G. Houge, T. Prescott, R. Hovland, 2010, Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke.

1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype.

A. Eriksson, T. Prescott, O. Rødningen, 2008, European journal of medical genetics.