Publications of H. Hu
All genres
Journal Article (36)
21.
Journal Article
109 (36), pp. 14514 - 14519 (2012)
Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. Proceedings of the National Academy of Sciences of the United States of America 22.
Journal Article
155A (8), pp. 1976 - 80 (2011)
A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. Am J Med Genet A 23.
Journal Article
89 (3), pp. 407 - 14 (2011)
ST3GAL3 mutations impair the development of higher cognitive functions. Am J Hum Genet 24.
Journal Article
129 (2), pp. 141 - 8 (2011)
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. Hum Genet 25.
Journal Article
478 (7367), pp. 57 - 63 (2011)
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 26.
Journal Article
108 (30), pp. 12390 - 5 (2011)
Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans. Proc Natl Acad Sci U S A 27.
Journal Article
89 (1), pp. 176 - 82 (2011)
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet 28.
Journal Article
20 (13), pp. 2585 - 90 (2011)
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. Hum Mol Genet 29.
Journal Article
88 (5), pp. 628 - 34 (2011)
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. Am J Hum Genet 30.
Journal Article
88 (5), pp. 628 - 34 (2011)
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. Am J Hum Genet 31.
Journal Article
155A (12), pp. 3067 - 70 (2011)
Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability. Am J Med Genet A 32.
Journal Article
129 (2), pp. 141 - 148 (2010)
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 nvel loci and several mutation hotspots. Human Genetics 33.
Journal Article
3 (1-4), p. 83 - 83 (2010)
Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. The Hugo Journal 34.
Journal Article
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing. European Journal of Human Genetics (2010)
35.
Journal Article
10, p. 413 - 413 (2009)
Sequence features associated with microRNA strand selection in humans and flies. BMC Genomics 36.
Journal Article
10, p. 161 - 161 (2009)
Estimating accuracy of RNA-Seq and microarrays with proteomics. BMC Genomics