1 |
Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.
61
25
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Yoshida M...Chiyonobu T
|
28589569 |
2018 |
2 |
Chromosome 2p15-p16.1 microduplication in a boy with congenital anomalies: Is it a distinctive syndrome?
25
|
Pavone P...Ruggieri M
|
29864511 |
2019 |
3 |
Direct Promoter Repression by BCL11A Controls the Fetal to Adult Hemoglobin Switch.
25
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Liu N...Orkin SH
|
29606353 |
2018 |
4 |
BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.
25
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Soblet J...Deconinck N
|
28960836 |
2018 |
5 |
ClinVar: improving access to variant interpretations and supporting evidence.
25
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Landrum MJ...Maglott DR
|
29165669 |
2018 |
6 |
Spatiotemporal gene expression trajectories reveal developmental hierarchies of the human cortex.
25
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Nowakowski TJ...Kriegstein AR
|
29217575 |
2017 |
7 |
Identification of novel mutations in the HbF repressor gene BCL11A in patients with autism and intelligence disabilities.
25
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Cai T...Liu PP
|
28891213 |
2017 |
8 |
Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.
25
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Levy J...Tabet AC
|
28573701 |
2017 |
9 |
Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome.
25
|
Shimbo H...Kurosawa K
|
28717667 |
2017 |
10 |
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.
25
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Dias C...Logan DW
|
27453576 |
2016 |
11 |
Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.
25
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Bagheri H...Rajcan-Separovic E
|
27699255 |
2016 |
12 |
Timing, rates and spectra of human germline mutation.
25
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Rahbari R...Hurles ME
|
26656846 |
2016 |
13 |
A de-novo interstitial microduplication involving 2p16.1-p15 and mirroring 2p16.1-p15 microdeletion syndrome: Clinical and molecular analysis.
25
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Mimouni-Bloch A...Basel-Vanagaite L
|
26278498 |
2015 |
14 |
Bcl11a (Ctip1) Controls Migration of Cortical Projection Neurons through Regulation of Sema3c.
25
|
Wiegreffe C...Britsch S
|
26182416 |
2015 |
15 |
Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A.
25
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Balci TB...Dyment DA
|
25979662 |
2015 |
16 |
The Specification of Cortical Subcerebral Projection Neurons Depends on the Direct Repression of TBR1 by CTIP1/BCL11a.
25
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Canovas J...Kukuljan M
|
25972180 |
2015 |
17 |
Calcium signaling in neocortical development.
25
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Uhlen P...Kanatani S
|
25652687 |
2015 |
18 |
Large-scale discovery of novel genetic causes of developmental disorders.
25
|
Deciphering Developmental Disorders Study
|
25533962 |
2015 |
19 |
Synaptic, transcriptional and chromatin genes disrupted in autism.
25
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De Rubeis S...Buxbaum JD
|
25363760 |
2014 |
20 |
The contribution of de novo coding mutations to autism spectrum disorder.
25
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Iossifov I...Wigler M
|
25363768 |
2014 |
21 |
Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.
25
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Kosho T...Carey JC
|
25169878 |
2014 |
22 |
De novo microdeletion of BCL11A is associated with severe speech sound disorder.
25
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Peter B...Raskind W
|
24810580 |
2014 |
23 |
Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.
25
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Jorgez CJ...Lamb DJ
|
25203062 |
2014 |
24 |
Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy.
25
|
Kadoch C...Crabtree GR
|
23644491 |
2013 |
25 |
Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome.
25
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Florisson JM...Verkerk AJ
|
23303641 |
2013 |
26 |
Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst.
25
|
Hucthagowder V...Kulkarni S
|
22579565 |
2012 |
27 |
Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.
25
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Piccione M...Corsello G
|
22406401 |
2012 |
28 |
Update on fetal hemoglobin gene regulation in hemoglobinopathies.
25
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Bauer DE...Orkin SH
|
21157349 |
2011 |
29 |
X-linked mental retardation gene CASK interacts with Bcl11A/CTIP1 and regulates axon branching and outgrowth.
25
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Kuo TY...Hsueh YP
|
20623620 |
2010 |
30 |
A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion.
25
|
Liang JS...Yamamoto T
|
19724011 |
2009 |
31 |
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
25
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Firth HV...Carter NP
|
19344873 |
2009 |
32 |
A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis.
25
|
de Leeuw N...Knoers NV
|
18245392 |
2008 |
33 |
Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1.
25
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Rajcan-Separovic E...Lewis ME
|
16963482 |
2007 |
34 |
ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.
25
|
Badens C...Edery P
|
16955409 |
2006 |
35 |
A missense variant, p.(Ile269Asn), in MC4R as a secondary finding in a child with BCL11A-related intellectual disability.
61
|
Beleford DT...Slavotinek AM
|
32534219 |
2020 |
36 |
BCL11A-Related Intellectual Disability
61
|
Peron A...Dias C
|
31556984 |
2019 |