Detalhe da pesquisa
1.
Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis.
Cell
; 173(1): 90-103.e19, 2018 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29551269
2.
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Am J Hum Genet
; 111(3): 487-508, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38325380
3.
A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Am J Hum Genet
; 108(1): 8-15, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33417889
4.
Novel biallelic ZNF335 variant causing primary microcephaly: A case report and radiological review.
Am J Med Genet A
; : e63593, 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38549403
5.
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.
Am J Med Genet A
; 194(4): e63477, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37969032
6.
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Genet Med
; 25(11): 100938, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37454282
7.
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy.
Am J Med Genet A
; 191(3): 776-785, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36537114
8.
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Am J Med Genet A
; 191(8): 2113-2131, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37377026
9.
Central nervous system involvement in individuals with RASopathies.
Am J Med Genet C Semin Med Genet
; 190(4): 494-500, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36454176
10.
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.
Am J Hum Genet
; 104(6): 1139-1157, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155282
11.
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
Am J Hum Genet
; 104(1): 35-44, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30554721
12.
Craniosynostosis is a feature of Costello syndrome.
Am J Med Genet A
; 188(4): 1280-1286, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34964243
13.
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.
Am J Med Genet A
; 188(6): 1915-1927, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266292
14.
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
Hum Mutat
; 42(4): 445-459, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33565190
15.
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Am J Hum Genet
; 102(1): 69-87, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290338
16.
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
17.
41st Annual David W. Smith workshop on malformations and morphogenesis: Abstracts of the 2020 annual meeting.
Am J Med Genet A
; : 1328-1337, 2021 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33433062
18.
Inherited intragenic PBX1 deletion: Expanding the phenotype.
Am J Med Genet A
; 185(1): 234-237, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098248
19.
Novel genetic testing model: A collaboration between genetic counselors and nephrology.
Am J Med Genet A
; 185(4): 1142-1150, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33475249
20.
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Am J Med Genet A
; 185(6): 1649-1665, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33783954