Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Am J Hum Genet
; 110(12): 2112-2119, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37963460
2.
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.
Am J Hum Genet
; 109(3): 518-532, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35108495
3.
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses.
Mol Psychiatry
; 2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38418578
4.
Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.
Brain
; 2024 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38242634
5.
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.
Brain
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38753057
6.
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.
J Med Genet
; 61(3): 289-293, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37833060
7.
Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.
J Biol Chem
; 299(8): 105012, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37414152
8.
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
Am J Hum Genet
; 108(2): 346-356, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33513338
9.
Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.
Genet Med
; 26(4): 101068, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38193396
10.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Brain
; 146(4): 1420-1435, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36718090
11.
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.
J Med Genet
; 60(8): 791-796, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36581449
12.
Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK.
J Clin Immunol
; 44(1): 4, 2023 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38112969
13.
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.
Genet Med
; 25(7): 100859, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37092538
14.
A mutation in POLR3E impairs antiviral immune response and RNA polymerase III.
Proc Natl Acad Sci U S A
; 117(36): 22113-22121, 2020 09 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32843346
15.
Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.
Hum Mol Genet
; 29(9): 1489-1497, 2020 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32307552
16.
Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.
Am J Hum Genet
; 104(1): 179-185, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595371
17.
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.
Am J Hum Genet
; 105(1): 48-64, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31178128
18.
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.
Clin Genet
; 101(1): 127-133, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34612517
19.
Two separate functions of NME3 critical for cell survival underlie a neurodegenerative disorder.
Proc Natl Acad Sci U S A
; 116(2): 566-574, 2019 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30587587
20.
Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia.
Int J Mol Sci
; 23(15)2022 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35897654