Detalhe da pesquisa
1.
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Am J Hum Genet
; 108(5): 951-961, 2021 05 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33894126
2.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Am J Hum Genet
; 108(5): 857-873, 2021 05 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33961779
3.
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Am J Hum Genet
; 105(5): 987-995, 2019 11 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31587868
4.
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
Am J Hum Genet
; 105(2): 283-301, 2019 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31353023
5.
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Genet Med
; 23(7): 1234-1245, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33824499
6.
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
PLoS Genet
; 14(11): e1007671, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30500825
7.
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Genet Med
; 22(11): 1838-1850, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32694869
8.
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genet Med
; 21(4): 837-849, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30206421
9.
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genet Med
; 21(8): 1897-1898, 2019 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-30279470
10.
Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome.
Am J Med Genet A
; 179(10): 2119-2123, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31369202
11.
Teaching a difficult topic using a problem-based concept resembling a computer game: development and evaluation of an e-learning application for medical molecular genetics.
BMC Med Educ
; 19(1): 390, 2019 Oct 24.
Artigo
Inglês
| MEDLINE | ID: mdl-31651301
12.
Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly.
Hum Mutat
; 39(5): 709-716, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29405539
13.
Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers.
Cytogenet Genome Res
; 154(4): 187-195, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29739006
14.
Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres.
Am J Med Genet A
; 176(6): 1438-1442, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29696806
15.
FOXP1-related intellectual disability syndrome: a recognisable entity.
J Med Genet
; 54(9): 613-623, 2017 09.
Artigo
Inglês
| MEDLINE | ID: mdl-28735298
16.
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.
Hum Mol Genet
; 24(12): 3335-47, 2015 Jun 15.
Artigo
Inglês
| MEDLINE | ID: mdl-25740848
17.
Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.
BMC Med Genet
; 18(1): 62, 2017 06 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28576131
18.
Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8.
Am J Med Genet A
; 167A(4): 837-41, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25735987
19.
Monozygotic twins with 17q21.31 microdeletion syndrome.
Twin Res Hum Genet
; 17(5): 405-10, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-24909117
20.
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
J Clin Invest
; 134(1)2024 Jan 02.
Artigo
Inglês
| MEDLINE | ID: mdl-37962958