Detalhe da pesquisa
1.
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.
Am J Hum Genet
; 110(4): 551-564, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36933558
2.
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
Am J Hum Genet
; 110(5): 809-825, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37075751
3.
Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.
Hum Mol Genet
; 31(18): 3083-3094, 2022 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35512351
4.
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Am J Hum Genet
; 108(6): 1053-1068, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909990
5.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Am J Hum Genet
; 108(6): 1138-1150, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909992
6.
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
7.
Biallelic OTUD6B variants associated with a Kabuki syndrome-like disorder in three siblings: A clinical report and literature review.
Am J Med Genet A
; 2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38389298
8.
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Am J Med Genet A
; : e63559, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421105
9.
Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.
N Engl J Med
; 383(18): 1746-1756, 2020 10 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33027564
10.
Information-seeking preferences in diverse patients receiving a genetic testing result in the Clinical Sequencing Evidence-Generating Research (CSER) study.
Genet Med
; 25(9): 100899, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37212252
11.
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.
Genet Med
; 25(8): 100863, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37125634
12.
Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.
Clin Genet
; 103(1): 97-102, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36071576
13.
TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy.
Am J Med Genet A
; 191(4): 1077-1082, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36574751
14.
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
Am J Med Genet A
; 191(4): 930-940, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36651673
15.
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
J Med Genet
; 59(9): 865-877, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34815299
16.
Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.
Hum Mol Genet
; 29(7): 1068-1082, 2020 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31625560
17.
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.
Hum Mol Genet
; 29(13): 2218-2239, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32504085
18.
Predicting genes from phenotypes using human phenotype ontology (HPO) terms.
Hum Genet
; 141(11): 1749-1760, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35357580
19.
Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications.
Am J Hum Genet
; 111(4): 621-623, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38479392
20.
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Am J Hum Genet
; 105(2): 413-424, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31327508