Detalhe da pesquisa
1.
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.
Am J Hum Genet
; 2024 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38866022
2.
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
Hum Genet
; 143(3): 437-453, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38520561
3.
Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy.
J Pediatr
; 265: 113808, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37923198
4.
Expansion of the prenatal phenotype of Baraitser-Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome.
Am J Med Genet A
; : e63719, 2024 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38789278
5.
Hospital-level variation in genetic testing in children's hospitals' neonatal intensive care units from 2016 to 2021.
Genet Med
; 25(3): 100357, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36521640
6.
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
7.
Retrospective identification of patients with SRRM2-related neurodevelopmental disorder in a single tertiary children's hospital.
Am J Med Genet A
; 191(8): 2149-2155, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37212523
8.
Expanding the reproductive organ phenotype of CHD7-spectrum disorder.
Am J Med Genet A
; 191(5): 1418-1424, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36794641
9.
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Am J Hum Genet
; 104(3): 530-541, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827496
10.
Expanding the phenotypic spectrum of ARCN1-related syndrome.
Genet Med
; 24(6): 1227-1237, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35300924
11.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Am J Hum Genet
; 102(5): 995-1007, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656858
12.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 1922-1932, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34163037
13.
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
14.
Ciliopathies: Coloring outside of the lines.
Am J Med Genet A
; 185(3): 687-694, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33369054
15.
Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.
Am J Med Genet A
; 185(12): 3762-3769, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34355836
16.
Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia.
Am J Med Genet A
; 185(12): 3675-3682, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34272929
17.
Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome.
Am J Med Genet A
; 185(9): 2766-2775, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34160123
18.
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
Am J Hum Genet
; 101(1): 139-148, 2017 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28686853
19.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Am J Hum Genet
; 100(2): 343-351, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132692
20.
Clinical utility of exome sequencing in infantile heart failure.
Genet Med
; 22(2): 423-426, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31527676