Detalhe da pesquisa
1.
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Am J Hum Genet
; 111(3): 594-613, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38423010
2.
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Am J Hum Genet
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38772379
3.
Identification of a robust DNA methylation signature for Fanconi anemia.
Am J Hum Genet
; 110(11): 1938-1949, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37865086
4.
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
Hum Mol Genet
; 32(3): 473-488, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36018820
5.
RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma-like mesenchymal tumors.
J Pathol
; 263(2): 166-177, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38629245
6.
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
Hum Mol Genet
; 31(16): 2766-2778, 2022 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35348676
7.
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Am J Hum Genet
; 108(1): 115-133, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33308444
8.
Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.
Mov Disord
; 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38685873
9.
Reversing vemurafenib-resistance in primary melanoma cells by combined romidepsin and type I IFN treatment through blocking of tumorigenic signals and induction of immunogenic effects.
Int J Cancer
; 153(5): 1080-1095, 2023 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37293858
10.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Am J Hum Genet
; 107(3): 499-513, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32721402
11.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 356-370, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109418
12.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Genet Med
; 25(4): 100018, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36681873
13.
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
Clin Genet
; 103(2): 156-166, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36224108
14.
Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder.
Haematologica
; 2023 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37981895
15.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Brain
; 145(1): 208-223, 2022 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34382076
16.
CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia.
Cell Mol Life Sci
; 79(10): 526, 2022 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36136249
17.
Maternal hemodynamics and computerized cardiotocography during labor with epidural analgesia.
Arch Gynecol Obstet
; 307(6): 1789-1794, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35704115
18.
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Am J Hum Genet
; 105(3): 493-508, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31447100
19.
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Genet Med
; 24(3): 631-644, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906488
20.
Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant.
Am J Med Genet A
; 188(9): 2796-2802, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35689525