|
1
|
Leonard H and Wen X: The epidemiology of
mental retardation: Challenges and opportunities in the new
millennium. Ment Retard Dev Disabil Res Rev. 8:117–134. 2002.
View Article : Google Scholar : PubMed/NCBI
|
|
2
|
De Brouwer AP, Yntema HG, Kleefstra T,
Lugtenberg D, Oudakker AR, de Vries BB, van Bokhoven H, Van Esch H,
Frints SG, Froyen G, et al: Mutation frequencies of X-linked mental
retardation genes in families from the EuroMRX consortium. Hum
Mutat. 28:207–208. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Tarpey PS, Smith R, Pleasance E, Whibley
A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, et
al: A systematic, large-scale resequencing screen of X-chromosome
coding exons in mental retardation. Nat Genet. 41:535–543. 2009.
View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Bassani S, Zapata J, Gerosa L, Moretto E,
Murru L and Passafaro M: The neurobiology of X-linked intellectual
disability. Neuroscientist. 19:541–552. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Li H and Durbin R: Fast and accurate short
read alignment with Burrows-Wheeler Transform. Bioinformatics.
25:1754–1760. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
McKenna A, Hanna M, Banks E, Sivachenko A,
Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly
M and DePristo MA: The Genome Analysis Toolkit: A MapReduce
framework for analyzing next-generation DNA sequencing data. Genome
Res. 20:1297–1303. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Wheeler DL, Barrett T, Benson DA, et al:
Database resources of the National Center for Biotechnology
Information. Nucleic Acids Res. 35(Database issue): D5–D12. 2007.
View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Yu HC, Sloan JL, Scharer G, Brebner A,
Quintana AM, Achilly NP, Manoli I, Coughlin CR II, Geiger EA,
Schneck U, et al: An X-linked cobalamin disorder caused by
mutations in transcriptional coregulator HCFC1. Am J Hum Genet.
93:506–514. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Gérard M, Morin G, Bourillon A, Colson C,
Mathieu S, Rabier D, de Villemeur Billette T, de Baulny Ogier H and
Benoist JF: Multiple congenital anomalies in two boys with mutation
in HCFC1 and cobalamin disorder. Eur J Med Genet. 58:148–153. 2015.
View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Jolly LA, Nguyen LS, Domingo D, Sun Y,
Barry S, Hancarova M, Plevova P, Vlckova M, Havlovicova M,
Kalscheuer VM, et al: HCFC1 loss-of-function mutations disrupt
neuronal and neural progenitor cells of the developing brain. Hum
Mol Genet. 24:3335–3347. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Quintana AM, Geiger EA, Achilly N,
Rosenblatt DS, Maclean KN, Stabler SP, Artinger KB, Appel B and
Shaikh TH: Hcfc1b, a zebrafish ortholog of HCFC1, regulates
craniofacial development by modulating mmachc expression. Dev Biol.
396:94–106. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Michaud J, Praz V, Faresse James N,
Jnbaptiste CK, Tyagi S, Schütz F and Herr W: HCFC1 is a common
component of active human CpG-island promoters and coincides with
ZNF143, THAP11, YY1 and GABP transcription factor occupancy. Genome
Res. 23:907–916. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Piton A, Gauthier J, Hamdan FF, Lafrenière
RG, Yang Y, Henrion E, Laurent S, Noreau A, Thibodeau P, Karemera
L, et al: Systematic resequencing of X-chromosome synaptic genes in
autism spectrum disorder and schizophrenia. Mol Psychiatry.
16:867–880. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Huang L, Jolly LA, Willis-Owen S, Gardner
A, Kumar R, Douglas E, Shoubridge C, Wieczorek D, Tzschach A, Cohen
M, Hackett A, Field M, Froyen G, Hu H, Haas SA, Ropers HH,
Kalscheuer VM, Corbett MA and Gecz J: A noncoding, regulatory
mutation implicates HCFC1 in nonsyndromic intellectual disability.
Am J Hum Genet. 91:694–702. 2012. View Article : Google Scholar : PubMed/NCBI
|
