Detalhe da pesquisa
1.
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.
Am J Hum Genet
; 106(5): 623-631, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32275884
2.
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Am J Hum Genet
; 107(5): 963-976, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33157009
3.
A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity.
J Clin Immunol
; 43(8): 1927-1940, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37581646
4.
Comprehensive prenatal diagnostics: Exome versus genome sequencing.
Prenat Diagn
; 43(9): 1132-1141, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37355983
5.
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
Am J Hum Genet
; 105(3): 640-657, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31402090
6.
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
Am J Hum Genet
; 105(2): 283-301, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353023
7.
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.
Genet Med
; 24(4): 880-893, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35101335
8.
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans.
Genet Med
; 24(2): 319-331, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906466
9.
Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions.
Clin Genet
; 101(2): 208-213, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34708403
10.
Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures.
Clin Genet
; 102(3): 191-200, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35699227
11.
Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.
Am J Hum Genet
; 102(6): 1090-1103, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29805044
12.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Am J Hum Genet
; 103(5): 666-678, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30343943
13.
Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing.
N Engl J Med
; 389(21): 2017-2019, 2023 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37991863
14.
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Genet Med
; 23(6): 1028-1040, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33658631
15.
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.
Clin Genet
; 100(5): 607-614, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34296759
16.
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
Am J Med Genet A
; 185(12): 3740-3753, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34331327
17.
Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration.
Brain
; 143(1): 94-111, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31855247
18.
Trisomy 8 mosaicism in the placenta: A Danish cohort study of 37 cases and a literature review.
Prenat Diagn
; 41(4): 409-421, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33251614
19.
National data on the early clinical use of non-invasive prenatal testing in public and private healthcare in Denmark 2013-2017.
Acta Obstet Gynecol Scand
; 100(5): 884-892, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33230826
20.
Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect.
Clin Genet
; 97(5): 779-784, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32067224