Detalhe da pesquisa
1.
ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification.
Am J Hum Genet
; 111(1): 24-38, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38103548
2.
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
Am J Hum Genet
; 110(7): 1046-1067, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37352859
3.
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Am J Hum Genet
; 109(12): 2163-2177, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36413997
4.
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
J Med Genet
; 59(5): 511-516, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34183358
5.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 24(8): 1753-1760, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35579625
6.
Gender Distribution Associated With the Journal Wilderness & Environmental Medicine.
Wilderness Environ Med
; 33(3): 267-274, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35753901
7.
Gender Equity in Membership, Leadership, and Award Recognition in the Wilderness Medical Society.
Wilderness Environ Med
; 33(3): 275-283, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35753902
8.
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.
J Med Genet
; 57(7): 454-460, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31988067
9.
Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome.
Am J Med Genet A
; 182(5): 1273-1277, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32141698
10.
Causes of cetacean stranding and death on the Catalonian coast (western Mediterranean Sea), 2012-2019.
Dis Aquat Organ
; 142: 239-253, 2020 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33331291
11.
matchbox: An open-source tool for patient matching via the Matchmaker Exchange.
Hum Mutat
; 39(12): 1827-1834, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30240502
12.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 25(2): 100004, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745127
13.
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.
medRxiv
; 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38496501
14.
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
medRxiv
; 2023 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36865205
15.
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Nat Med
; 29(1): 180-189, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36658419
16.
Faculty Biographies.
Wilderness Environ Med
; 28(2S): S1-S2, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28601202
17.
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema.
Sci Transl Med
; 14(634): eabm4869, 2022 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35235341
18.
Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia.
BMC Med Genomics
; 14(1): 64, 2021 02 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33639934
19.
Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5.
Neuron
; 106(2): 246-255.e6, 2020 04 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32097629
20.
Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6.
NPJ Genom Med
; 4: 28, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31754459