Associated Papers
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
Whole-exome sequencing detected a novel APP variant in a Han-Chinese family with Alzheimer's disease.
Zhaoxia W et al.
Molecular Biology Reports, 2023
The mutation screening in candidate genes related to thyroid dysgenesis by targeted next-generation sequencing panel in the Chinese congenital hypothyroidism.
Zhang RJ et al.
Clinical Endocrinology, 2022
Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans.
Zhang L et al.
Npj Genomic Medicine, 2021
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre- and postnatal diagnostic testing in Germany.
Hinreiner S et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018
Mutational screening of GLI3, SHH, preZRS, and ZRS in 102 Chinese children with nonsyndromic polydactyly.
Xiang Y et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2017
Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.
Mouden C et al.
Clinical Genetics, 2016
Maternal genetic effect in DNA analysis: egg on your traits.
Wilson GN
American Journal of Medical Genetics. Part A, 2012
Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2.
Wannasilp N et al.
American Journal of Medical Genetics. Part A, 2011
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
Solomon BD et al.
Journal of Medical Genetics, 2010
Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies.
Bakrania P et al.
American Journal of Medical Genetics. Part A, 2010
Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.
Hehr U et al.
Human Genetics, 2010
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
Roessler E et al.
Human Mutation, 2009
Maternally inherited heterozygous sequence change in the sonic hedgehog gene in a male patient with bilateral closed-lip schizencephaly and partial absence of the corpus callosum.
Schell-Apacik CC et al.
American Journal of Medical Genetics. Part A, 2009
Mutational analysis of SHH and GLI3 in anorectal malformations.
Garcia-Barceló MM et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2008
Holoprosencephaly: clinical, anatomic, and molecular dimensions.
Cohen MM
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2006
Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.
Traiffort E et al.
The Journal of Biological Chemistry, 2004