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.
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
3.
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
Am J Hum Genet
; 108(11): 2112-2129, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34626534
4.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet
; 108(3): 502-516, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33596411
5.
Natural history of MRAS-related Noonan syndrome: Evidence of mild adult-onset left ventricular hypertrophy and neuropsychiatric features.
Am J Med Genet C Semin Med Genet
; 193(2): 160-166, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36734411
6.
Bi-allelic LoF NRROS Variants Impairing Active TGF-ß1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.
Am J Hum Genet
; 106(4): 559-569, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32197075
7.
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
8.
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
9.
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
10.
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
J Med Genet
; 59(2): 170-179, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33323470
11.
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
Am J Med Genet C Semin Med Genet
; 190(2): 231-242, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35872606
12.
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
13.
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
14.
SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.
Clin Genet
; 102(1): 12-21, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35396703
15.
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.
Am J Hum Genet
; 103(4): 621-630, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290154
16.
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.
Genet Med
; 23(6): 1116-1124, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33568805
17.
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.
Am J Med Genet A
; 185(10): 3153-3160, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34159694
18.
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.
Am J Med Genet A
; 185(6): 1712-1720, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33675273
19.
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Am J Med Genet A
; 185(8): 2417-2433, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34042254
20.
Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation.
Hum Mutat
; 41(6): 1171-1182, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32112654