Detalhe da pesquisa
1.
Mendelian inheritance revisited: dominance and recessiveness in medical genetics.
Nat Rev Genet
; 24(7): 442-463, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36806206
2.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 750-758, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202563
3.
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.
J Med Genet
; 61(4): 363-368, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38290823
4.
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.
J Med Genet
; 61(5): 490-501, 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38296633
5.
Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis.
J Anat
; 2024 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38760592
6.
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function.
J Med Genet
; 60(7): 712-716, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36543535
7.
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
J Med Genet
; 60(12): 1235-1244, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37558402
8.
Speech and Language Development, Hearing, and Feeding in Patients With Genetically Confirmed Crouzon Syndrome With Acanthosis Nigricans: A 36-Year Longitudinal Retrospective Review of Patients at the Oxford Craniofacial Unit.
J Craniofac Surg
; 2024 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38506523
9.
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Am J Hum Genet
; 106(6): 830-845, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32442410
10.
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Genet Med
; 25(9): 100883, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37154149
11.
Gregor Mendel and the concepts of dominance and recessiveness.
Nat Rev Genet
; 23(7): 387-388, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35508637
12.
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis.
J Med Genet
; 59(8): 776-780, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34353863
13.
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.
J Med Genet
; 59(2): 165-169, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33436522
14.
Development of Erf-Mediated Craniosynostosis and Pharmacological Amelioration.
Int J Mol Sci
; 24(9)2023 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37175668
15.
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
Am J Hum Genet
; 104(4): 709-720, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30905399
16.
The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.
Genet Med
; 24(12): 2501-2515, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36178483
17.
Cognitive, Behavioural, Speech, Language and Developmental Outcomes Associated with Pathogenic Variants in the ERF Gene.
J Craniofac Surg
; 33(6): 1847-1852, 2022 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35761471
18.
Hearing, Speech, Language, and Communicative Participation in Patients With Apert Syndrome: Analysis of Correlation With Fibroblast Growth Factor Receptor 2 Mutation.
J Craniofac Surg
; 33(1): 243-250, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34310431
19.
Dissection of contiguous gene effects for deletions around ERF on chromosome 19.
Hum Mutat
; 42(7): 811-817, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33993607
20.
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
Hum Mutat
; 42(4): 445-459, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33565190