Search details
1.
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.
Cell
; 157(3): 651-63, 2014 Apr 24.
Article
in English
| MEDLINE | ID: mdl-24766810
2.
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
Mol Cell
; 81(22): 4663-4676.e8, 2021 11 18.
Article
in English
| MEDLINE | ID: mdl-34637754
3.
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Am J Hum Genet
; 2024 May 28.
Article
in English
| MEDLINE | ID: mdl-38815585
4.
De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Hum Mol Genet
; 31(3): 440-454, 2022 02 03.
Article
in English
| MEDLINE | ID: mdl-34505148
5.
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Am J Med Genet A
; 194(7): e63559, 2024 Jul.
Article
in English
| MEDLINE | ID: mdl-38421105
6.
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.
Mol Cell
; 81(22): 4757, 2021 Nov 18.
Article
in English
| MEDLINE | ID: mdl-34798045
7.
In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2.
J Med Genet
; 60(6): 597-607, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36328423
8.
Clonal hematopoiesis of indeterminate potential is rare in pediatric patients undergoing autologous stem cell transplantation.
Pediatr Hematol Oncol
; : 1-10, 2024 Jun 06.
Article
in English
| MEDLINE | ID: mdl-38840569
9.
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
Am J Hum Genet
; 107(3): 544-554, 2020 09 03.
Article
in English
| MEDLINE | ID: mdl-32730804
10.
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
Genet Med
; 25(7): 100839, 2023 Jul.
Article
in English
| MEDLINE | ID: mdl-37057675
11.
Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development.
Cell
; 135(1): 37-48, 2008 Oct 03.
Article
in English
| MEDLINE | ID: mdl-18854153
12.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
J Med Genet
; 59(10): 965-975, 2022 Oct.
Article
in English
| MEDLINE | ID: mdl-34930816
13.
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Genet Med
; 24(6): 1261-1273, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35341651
14.
The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome.
Clin Genet
; 102(6): 517-523, 2022 12.
Article
in English
| MEDLINE | ID: mdl-35908153
15.
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.
Clin Genet
; 102(3): 182-190, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35662002
16.
Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome).
Am J Med Genet A
; 188(1): 292-297, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34533271
17.
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
Am J Hum Genet
; 102(1): 44-57, 2018 01 04.
Article
in English
| MEDLINE | ID: mdl-29276004
18.
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
Am J Hum Genet
; 103(2): 305-316, 2018 08 02.
Article
in English
| MEDLINE | ID: mdl-30057029
19.
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Genet Med
; 23(7): 1234-1245, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33824499
20.
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.
Genet Med
; 23(3): 543-554, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33149277