Detalhe da pesquisa
1.
Why all MODY variants are dominantly inherited: a hypothesis.
Trends Genet
; 38(4): 321-324, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34696899
2.
Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals.
Mov Disord
; 39(2): 400-410, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38314870
3.
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
Hum Genet
; 142(7): 909-925, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183190
4.
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
Am J Hum Genet
; 105(4): 854-868, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31585109
5.
A novel pathogenic RHOA variant in a patient with patterned cutaneous hypopigmentation associated with extracutaneous findings.
Pediatr Dermatol
; 39(2): 281-287, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35178721
6.
A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever.
Hum Mutat
; 42(12): 1576-1583, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34570399
7.
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
Am J Hum Genet
; 102(3): 364-374, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29429573
8.
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Am J Hum Genet
; 103(5): 752-768, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30388402
9.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Am J Hum Genet
; 102(5): 995-1007, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656858
10.
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Genet Med
; 23(8): 1484-1491, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33833411
11.
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.
J Med Genet
; 57(12): 808-819, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32409512
12.
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.
Am J Hum Genet
; 101(3): 369-390, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28867142
13.
Correction: Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause.
Genet Med
; 22(7): 1280, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32483295
14.
Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause.
Genet Med
; 22(2): 432-436, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31462756
15.
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
Genet Med
; 22(3): 547-556, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31649276
16.
The incidence and carrier frequency of Tay-Sachs disease in the French-Canadian population of Quebec based on retrospective data from 24 years, 1992-2015.
J Genet Couns
; 29(6): 1173-1185, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32302469
17.
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Hum Mutat
; 2019 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31646703
18.
Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.
Neurogenetics
; 20(2): 103-108, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30924036
19.
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
Am J Hum Genet
; 99(6): 1368-1376, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27889060
20.
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.
PLoS Biol
; 14(3): e1002416, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26982032