Detalhe da pesquisa
1.
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
2.
Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology.
Graefes Arch Clin Exp Ophthalmol
; 262(6): 1737-1744, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38206414
3.
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.
Am J Hum Genet
; 107(3): 564-574, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32822602
4.
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
Am J Hum Genet
; 107(1): 34-45, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32497488
5.
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.
Genet Med
; 23(10): 1912-1921, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113010
6.
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.
Clin Genet
; 99(6): 780-788, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33586135
7.
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.
Brain
; 143(1): 303-319, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31855245
8.
Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
Am J Hum Genet
; 96(3): 412-24, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25728776
9.
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.
J Hum Genet
; 63(7): 847-850, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29717186
10.
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.
Hum Mutat
; 38(4): 409-425, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28055140
11.
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Hum Genet
; 136(4): 463-479, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28283832
12.
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster.
Genome Res
; 24(2): 349-55, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24389049
13.
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.
Am J Med Genet A
; 173(9): 2456-2460, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28631894
14.
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Nature
; 478(7367): 97-102, 2011 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-21881559
15.
[Pectus excavatumn and carinatum in children and adolescents : what to say, what to do ?] / Pectus excavatum et carinatum chez l'enfant et l'adolescent : que dire, que faire ?
Rev Med Suisse
; 13(550): 414-420, 2017 Feb 15.
Artigo
em Francês
| MEDLINE | ID: mdl-28714634
16.
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
Hum Mutat
; 35(10): 1203-10, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25044680
17.
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.
J Med Genet
; 50(4): 255-63, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23335809
18.
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.
PLoS Genet
; 7(7): e1002173, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21779178
19.
Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.
Hum Mutat
; 34(1): 88-92, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22965468
20.
Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation.
Eur J Pediatr
; 172(7): 877-81, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21845392