Detalhe da pesquisa
1.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Am J Hum Genet
; 109(10): 1867-1884, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130591
2.
Mutations in TP73 cause impaired mucociliary clearance and lissencephaly.
Am J Hum Genet
; 108(7): 1318-1329, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34077761
3.
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 108(6): 1069-1082, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34022130
4.
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.
N Engl J Med
; 384(25): 2406-2417, 2021 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34161705
5.
KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.
Hum Genet
; 142(3): 399-405, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36564622
6.
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Brain
; 145(3): 909-924, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34605855
7.
Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome.
Am J Hum Genet
; 105(5): 1016-1022, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630791
8.
ZNF668 deficiency causes a recognizable disorder of DNA damage repair.
Hum Genet
; 140(9): 1395-1401, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34313816
9.
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
Am J Hum Genet
; 103(6): 948-967, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30526868
10.
Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly.
Genet Med
; 23(11): 2213-2218, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34230638
11.
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.
Genet Med
; 23(4): 661-668, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33420346
12.
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Genet Med
; 23(9): 1715-1725, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34054129
13.
MYH1 is a candidate gene for recurrent rhabdomyolysis in humans.
Am J Med Genet A
; 185(7): 2131-2135, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33755318
14.
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.
Brain
; 143(8): 2388-2397, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32705143
15.
Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.
Hum Genet
; 139(4): 513-519, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31960134
16.
Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2.
Am J Hum Genet
; 101(4): 603-608, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28965844
17.
Further delineation of HIDEA syndrome.
Am J Med Genet A
; 182(12): 2999-3006, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32965080
18.
Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.
Hum Mutat
; 40(11): 1985-1992, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31209944
19.
Congenital glaucoma and CYP1B1: an old story revisited.
Hum Genet
; 138(8-9): 1043-1049, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29556725
20.
Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants.
Genet Med
; 21(5): 1164-1172, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30250217