Detalhe da pesquisa
1.
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
Cell
; 159(1): 200-214, 2014 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25259927
2.
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
3.
A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35.
J Biol Chem
; 300(4): 107124, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38432637
4.
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
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.
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.
Hum Mol Genet
; 31(19): 3231-3244, 2022 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35234901
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.
Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a "virtual fetus" model-a pilot study.
Prenat Diagn
; 44(4): 511-518, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38353311
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.
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
Am J Hum Genet
; 107(2): 293-310, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32707087
13.
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
Am J Hum Genet
; 106(2): 272-279, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32004445
14.
A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay.
Clin Genet
; 104(1): 73-80, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37005340
15.
Homozygous 22q11.2 distal type II microdeletion is associated with syndromic neurodevelopmental delay.
Am J Med Genet A
; 191(10): 2623-2630, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37365930
16.
Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity.
Brain
; 145(3): 872-878, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34788402
17.
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
18.
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
19.
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
Am J Med Genet A
; 188(8): 2360-2366, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35751429
20.
De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features.
J Med Genet
; 58(3): 205-212, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32430360