Detalhe da pesquisa
1.
Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability.
Proc Natl Acad Sci U S A
; 121(9): e2322582121, 2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38381787
2.
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Am J Hum Genet
; 110(4): 663-680, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36965478
3.
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Hum Mol Genet
; 32(21): 3063-3077, 2023 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37552066
4.
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.
Hum Genet
; 143(3): 279-291, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38451290
5.
Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome.
Brain
; 146(3): 968-976, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36181424
6.
Genetic counseling for congenital disorders of glycosylation (CDG).
J Genet Couns
; 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38240170
7.
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.
Genet Med
; 25(6): 100833, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37013900
8.
Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program.
Mol Genet Metab
; 140(3): 107707, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37883914
9.
The contribution of mosaicism to genetic diseases and de novo pathogenic variants.
Am J Med Genet A
; 191(10): 2482-2492, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37246601
10.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Brain
; 145(1): 208-223, 2022 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34382076
11.
Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
PLoS Genet
; 16(10): e1009156, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33104717
12.
yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
PLoS Genet
; 16(6): e1008841, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32544203
13.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet
; 104(1): 139-156, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595372
14.
PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation.
Mol Genet Metab
; 135(3): 221-229, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35144859
15.
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.
J Inherit Metab Dis
; 45(5): 907-918, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35490291
16.
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
Am J Hum Genet
; 103(5): 794-807, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401460
17.
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Am J Hum Genet
; 103(1): 154-162, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961569
18.
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Am J Hum Genet
; 103(4): 553-567, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290151
19.
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
Genet Med
; 23(2): 396-407, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33005041
20.
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Genet Med
; 23(4): 740-750, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33239752