Susan L Christian


Ontology type: schema:Person     


Person Info

NAME

Susan L

SURNAME

Christian

Publications in SciGraph latest 50 shown

  • 2014-05 Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2012-04 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome in NATURE GENETICS
  • 2011-12 Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-04 Microcephaly, sensorineural deafness and Currarino triad with duplication–deletion of distal 7q in EUROPEAN JOURNAL OF PEDIATRICS
  • 2009-11 Microduplications of 16p11.2 are associated with schizophrenia in NATURE GENETICS
  • 2009-05 Genetics of autism spectrum disorders in CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS
  • 2009-04 Singleton deletions throughout the genome increase risk of bipolar disorder in MOLECULAR PSYCHIATRY
  • 2008-11 Corrigendum: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum in NATURE GENETICS
  • 2008-09 Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum in NATURE GENETICS
  • 2002-12 Mutation screening of two candidate genes from 13q32 in families affected with Bipolar disorder: human peptide transporter (SLC15A1) and human glypican5 (GPC5) in BMC GENOMICS
  • 1999-11 Intrauterine Growth Retardation Associated with Maternal Uniparental Disomy for Chromosome 6 Unmasked by Congenital Adrenal Hyperplasia in PEDIATRIC RESEARCH
  • 1996-12 Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes in HUMAN GENETICS
  • 1994-09 Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region in NATURE GENETICS
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