Publications by Trine Elisabeth Prescott
74 publications found
Original articles
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia
J Med Genet, 61 (3), 250-261
DOI 10.1136/jmg-2023-109181, PubMed 38050128
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
Am J Hum Genet, 110 (11), 1919-1937
DOI 10.1016/j.ajhg.2023.09.009, PubMed 37827158
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites
Sci Adv, 9 (7), eade4814
DOI 10.1126/sciadv.ade4814, PubMed 36800428
Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis
J Med Genet, 60 (1), 57-64
DOI 10.1136/jmedgenet-2021-108179, PubMed 34876502
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating
Hum Mol Genet, 30 (23), 2300-2314
DOI 10.1093/hmg/ddab192, PubMed 34245260
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin
Am J Med Genet A, 188 (1), 272-282
DOI 10.1002/ajmg.a.62492, PubMed 34515416
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Genome Med, 13 (1), 90
DOI 10.1186/s13073-021-00900-3, PubMed 34020708
Partial Response to Sorafenib in a Child With a Myeloid/Lymphoid Neoplasm, Eosinophilia, and a ZMYM2-FLT3 Fusion
J Pediatr Hematol Oncol, 43 (4), e508-e511
DOI 10.1097/MPH.0000000000001890, PubMed 32852395
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
Sci Adv, 6 (49)
DOI 10.1126/sciadv.abc9207, PubMed 33268356
[Gene panel testing]
Tidsskr Nor Laegeforen, 140 (3)
DOI 10.4045/tidsskr.19.0535, PubMed 32105034
A pregnant woman with pancytopenia
Tidsskr. Nor. Laegeforen., 139 (17), 1671-1674
A pregnant woman with pancytopenia
Tidsskr Nor Laegeforen, 139 (17)
DOI 10.4045/tidsskr.19.0022, PubMed 31746163
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants
Neurol Genet, 5 (6), e369
DOI 10.1212/NXG.0000000000000369, PubMed 32042905
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping
Am J Hum Genet, 104 (4), 749-757
DOI 10.1016/j.ajhg.2019.02.021, PubMed 30905398
A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus
Genet Med, 21 (3), 572-579
DOI 10.1038/s41436-018-0079-4, PubMed 29907796
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients
Eur J Hum Genet, 26 (1), 64-74
DOI 10.1038/s41431-017-0038-6, PubMed 29180823
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Am J Hum Genet, 101 (5), 768-788
DOI 10.1016/j.ajhg.2017.10.003, PubMed 29100089
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features
Eur J Hum Genet, 25 (5), 552-559
DOI 10.1038/ejhg.2017.27, PubMed 28327570
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
J Allergy Clin Immunol, 139 (1), 232-245
DOI 10.1016/j.jaci.2016.05.042, PubMed 27577878
Two male sibs with severe micrognathia and a missense variant in MED12
Eur J Med Genet, 59 (8), 367-72
DOI 10.1016/j.ejmg.2016.06.001, PubMed 27286923
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome
PLoS One, 11 (4), e0153757
DOI 10.1371/journal.pone.0153757, PubMed 27124303
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
Am J Hum Genet, 98 (5), 981-992
DOI 10.1016/j.ajhg.2016.03.018, PubMed 27108798
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
Am J Hum Genet, 98 (1), 202-9
DOI 10.1016/j.ajhg.2015.11.004, PubMed 26708751
A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation
Eur J Med Genet, 58 (8), 387-91
DOI 10.1016/j.ejmg.2015.06.003, PubMed 26116559
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM
Eur J Hum Genet, 23 (12), 1652-6
DOI 10.1038/ejhg.2015.30, PubMed 25735484
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients
J Clin Endocrinol Metab, 99 (10), E2138-43
DOI 10.1210/jc.2014-2110, PubMed 25077900
Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b
Eur J Hum Genet, 23 (4), 494-9
DOI 10.1038/ejhg.2014.133, PubMed 25005734
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations
Am J Hum Genet, 94 (6), 915-23
DOI 10.1016/j.ajhg.2014.05.005, PubMed 24906020
Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies
Mol Syndromol, 5 (2), 65-75
DOI 10.1159/000357962, PubMed 24715853
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation
Brain, 136 (Pt 4), 1146-54
DOI 10.1093/brain/awt021, PubMed 23449775
A 5.8 kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome
Gene, 518 (2), 457-60
DOI 10.1016/j.gene.2013.01.029, PubMed 23370340
Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life
Eur J Med Genet, 56 (3), 131-7
DOI 10.1016/j.ejmg.2012.12.008, PubMed 23298620
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1
Hum Mol Genet, 22 (4), 696-703
DOI 10.1093/hmg/dds477, PubMed 23161670
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability
Am J Hum Genet, 91 (1), 73-82
DOI 10.1016/j.ajhg.2012.05.003, PubMed 22726846
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity
Hum Mutat, 33 (4), 665-73
DOI 10.1002/humu.22012, PubMed 22190451
Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes
Eur J Med Genet, 55 (3), 196-202
DOI 10.1016/j.ejmg.2012.01.003, PubMed 22306853
Exon trapping analysis of c.301-19G > A in intron 1 of the SHH gene in a patient with a microform of holoprosencephaly
Eur J Med Genet, 54 (2), 130-5
DOI 10.1016/j.ejmg.2010.10.011, PubMed 21044704
[Determination of chromosome aberrations with the help of DNA arrays]
Tidsskr Nor Laegeforen, 130 (9), 944-7
DOI 10.4045/tidsskr.10.0101, PubMed 20453958
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
Nat Genet, 41 (12), 1272-4
DOI 10.1038/ng.484, PubMed 19935664
[Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway]
Tidsskr Nor Laegeforen, 129 (22), 2358-61
DOI 10.4045/tidsskr.09.0267, PubMed 19935936
Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection
Clin Dysmorphol, 18 (2), 78-82
DOI 10.1097/MCD.0b013e32831e19cd, PubMed 19057379
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
Eur J Hum Genet, 17 (7), 904-10
DOI 10.1038/ejhg.2008.261, PubMed 19156171
Investigations as a prerequisite for genetic counseling after termination of pregnancy based on sonographic detection of serious central nervous system--or skeletal anomalies
Acta Obstet Gynecol Scand, 87 (10), 998-1005
DOI 10.1080/00016340802415630, PubMed 18798055
1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype
Eur J Med Genet, 51 (6), 646-50
DOI 10.1016/j.ejmg.2008.07.007, PubMed 18725332
Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development
Am J Hum Genet, 81 (5), 906-12
DOI 10.1086/522240, PubMed 17924334
Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene
Am J Med Genet A, 143A (13), 1510-3
DOI 10.1002/ajmg.a.31797, PubMed 17568423
Distal phalangeal creases--a distinctive dysmorphic feature in disorders of the RAS signalling pathway?
Eur J Med Genet, 50 (2), 155-8
DOI 10.1016/j.ejmg.2006.12.003, PubMed 17324647
Posterior helical pits
Eur J Med Genet, 50 (2), 159-61
DOI 10.1016/j.ejmg.2006.11.003, PubMed 17223397
A surrealistic mega-analysis of redisorganization theories
Healthc Q, 9 (3), 50-4
DOI 10.12927/hcq..18228, PubMed 16830401
A surrealistic mega-analysis of redisorganization theories
J R Soc Med, 98 (12), 563-8
DOI 10.1177/014107680509801223, PubMed 16319441
Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distribution
Eur J Med Genet, 49 (2), 135-9
DOI 10.1016/j.ejmg.2005.06.005, PubMed 16530710
Clinical and mutational spectrum of Mowat-Wilson syndrome
Eur J Med Genet, 48 (2), 97-111
DOI 10.1016/j.ejmg.2005.01.003, PubMed 16053902
Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG
Clin Dysmorphol, 13 (4), 257-260
DOI 10.1097/00019605-200410000-00012, PubMed 15365465
Comparing treatment intensities of tactile-thermal application
Dysphagia, 13 (1), 1-9
DOI 10.1007/PL00009542, PubMed 9391220
Temperature acceleration in cold oral stimulation
Dysphagia, 9 (2), 83-7
DOI 10.1007/BF00714591, PubMed 8005011
Auditory event-related potential probes and behavioral measures of aphasia
Brain Lang, 36 (3), 377-90
DOI 10.1016/0093-934x(89)90074-6, PubMed 2468393
Cueing verbs: a treatment strategy for aphasic adults (CVT)
J Rehabil Res Dev, 25 (2), 47-60
PubMed 2452250
The effects of temporal expansion upon auditory comprehension in aphasic adults
Br J Disord Commun, 15 (2), 115-27
DOI 10.3109/13682828009011377, PubMed 7459246
Schizophrenic and aphasic language: discriminable or not?
J Consult Clin Psychol, 48 (1), 63-70
DOI 10.1037//0022-006x.48.1.63, PubMed 7365044
Speech and language findings in a chronic hemodialysis patient: a case report
J Speech Hear Disord, 40 (2), 245-52
DOI 10.1044/jshd.4002.245, PubMed 1234935
A method for quantification and description of clinical interactions with aurally handicapped children
J Speech Hear Disord, 39 (3), 235-43
DOI 10.1044/jshd.3903.235, PubMed 4411660
Content and sequence analyses of speech and hearing therapy
ASHA, 14 (2), 58-62
PubMed 4115941
Development of left-right discrimination in normal children
Percept Mot Skills, 26 (1), 267-74
DOI 10.2466/pms.1968.26.1.267, PubMed 5642535
Other articles
Phenotypic expansion of ARSK-related mucopolysaccharidosis
Am J Med Genet A, 188 (11), 3369-3373
DOI 10.1002/ajmg.a.62934, PubMed 35959767
Prophylactic Allogeneic Hematopoietic Stem Cell Therapy for CSF1R-Related Leukoencephalopathy
Mov Disord, 37 (5), 1108-1109
DOI 10.1002/mds.29011, PubMed 35587623
Positive response to imatinib in PDGFRB-related Kosaki overgrowth syndrome
Am J Med Genet A, 185 (8), 2597-2601
DOI 10.1002/ajmg.a.62264, PubMed 33979467
Gene panel testing
Tidsskr. Nor. Laegeforen., 140 (3), 224-227
Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler
Am J Med Genet A, 173 (5), 1447-1449
DOI 10.1002/ajmg.a.38177, PubMed 28371307
Predictive testing should be in the child's best interests
Tidsskr Nor Laegeforen, 136 (17), 1421
DOI 10.4045/tidsskr.16.0634, PubMed 27686188
A diagnostic revolution
Tidsskr Nor Laegeforen, 133 (15), 1550-1
DOI 10.4045/tidsskr.13.0747, PubMed 23970244
Comment on the article "Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri" by van den Munckhof et al
Neurogenetics, 13 (1), 103-4
DOI 10.1007/s10048-011-0309-2, PubMed 22203059
Books
Nevrofibromatose: type 1
Senteret, Siggerud ([3. utg.]), 48 s.
BIBSYS 010088946
Psykososial utvikling hos barn i barnehage (0-3 år): en litteraturstudie
In Monografiserien (Universitetet i Oslo. Barnepsykiatrisk klinikk), Universitetet, Oslo, 6, 46 bl.
BIBSYS 822095513
Være sammen: om ungdom og seksualitet
Pax, Oslo, 79 s.
BIBSYS 832188409, ISBN 82-530-0826-0