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.
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
3.
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 361-372, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35051358
4.
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
5.
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
6.
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
7.
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
8.
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
J Med Genet
; 59(5): 511-516, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34183358
9.
[NEXT-GENERATION SEQUENCING PERFORMED IN PATIENTS RAISING THE SUSPICION OF AN INBORN ERROR OF METABOLISM UNCOVERED A HOMOZYGOUS VARIANT IN YARS1 ALLOWING A NOVEL THERAPEUTIC TRIAL].
Harefuah
; 162(6): 344-351, 2023 Jun.
Artigo
em Hebraico
| MEDLINE | ID: mdl-37394435
10.
Combining cytogenetic and genomic technologies for deciphering challenging complex chromosomal rearrangements.
Mol Genet Genomics
; 297(4): 925-933, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35488049
11.
Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population.
Am J Med Genet A
; 188(10): 3110-3117, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35943032
12.
Bi-allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families.
Am J Med Genet A
; 188(1): 336-342, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34585832
13.
The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencing.
Prenat Diagn
; 42(7): 881-889, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34132406
14.
A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System.
Int J Mol Sci
; 23(4)2022 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35216494
15.
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
16.
Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay.
Clin Genet
; 99(4): 577-582, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33410501
17.
De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features.
Am J Med Genet A
; 185(1): 190-195, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33026150
18.
Pathogenic Variants of Scavenger Receptor CD36 Lead to Decreased Efferocytosis and Predispose to Myocarditis Following Vaccination With Pfizer-BioNTech BNT162b2 Against Coronavirus Infection (COVID-19).
Circulation
; 149(3): 270-273, 2024 01 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38227712
19.
Grandparental genotyping enhances exome variant interpretation.
Am J Med Genet A
; 182(4): 689-696, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32027463
20.
Homozygous variants in MAPRE2 and CDON in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis.
Am J Med Genet A
; 179(12): 2454-2458, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31502381