Her primary areas of investigation include Disease, Exome sequencing, Enzyme replacement therapy, Pediatrics and Internal medicine. Her work carried out in the field of Disease brings together such families of science as Phenotype, Human Phenotype Ontology, Intensive care medicine, Allele and Genotype. Christine M. Eng studies Exome which is a part of Exome sequencing.
Exome is a subfield of Genetics that Christine M. Eng explores. Her Enzyme replacement therapy research integrates issues from Fabry disease and Hunter syndrome. Christine M. Eng combines subjects such as Gene duplication and Medical genetics with her study of Genetic testing.
Christine M. Eng mostly deals with Genetics, Exome sequencing, Exome, Intellectual disability and Bioinformatics. Her Genetics study focuses mostly on Missense mutation, Gene, Hypotonia, Phenotype and Allele. The Exome sequencing study combines topics in areas such as Proband, Global developmental delay, Microcephaly, Genetic counseling and Human genetics.
Her Exome research incorporates themes from Compound heterozygosity, Computational biology, Pediatrics and Candidate gene. Christine M. Eng focuses mostly in the field of Intellectual disability, narrowing it down to matters related to Neurodevelopmental disorder and, in some cases, Haploinsufficiency. As a part of the same scientific family, Christine M. Eng mostly works in the field of Bioinformatics, focusing on Genetic testing and, on occasion, Medical genetics.
Genetics, Exome sequencing, Intellectual disability, Hypotonia and Phenotype are her primary areas of study. Particularly relevant to Exome is her body of work in Exome sequencing. Christine M. Eng studied Intellectual disability and Neurodevelopmental disorder that intersect with Global developmental delay.
Her Hypotonia research is multidisciplinary, relying on both Mitochondrion, Encephalopathy and GTPase. Her work on Loss function as part of general Phenotype study is frequently linked to DDX3X, therefore connecting diverse disciplines of science. Her work in Gene tackles topics such as Disease which are related to areas like Genetic diagnosis.
Her main research concerns Exome sequencing, Genetics, Exome, Phenotype and Human genetics. Her Exome sequencing study integrates concerns from other disciplines, such as Structural variation, Prenatal diagnosis and Computational biology. Her work in Allele, Gene and CACNB4 is related to Genetics.
Her Gene research includes elements of CHARGE syndrome, Disease and Family history. Her work deals with themes such as Copy-number variation, Compound heterozygosity, Single-nucleotide polymorphism, Runs of Homozygosity and Uniparental disomy, which intersect with Exome. Her Phenotype research incorporates elements of Neuroscience and Intellectual disability.
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Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang;Donna M. Muzny;Jeffrey G. Reid;Matthew N. Bainbridge.
The New England Journal of Medicine (2013)
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): A policy statement of the American College of Medical Genetics and Genomics
Sarah S. Kalia;Kathy Adelman;Sherri J. Bale;Wendy K. Chung.
Genetics in Medicine (2017)
Chromosomal microarray versus karyotyping for prenatal diagnosis
Ronald J. Wapner;Christa Lese Martin;Brynn Levy;Blake C. Ballif.
The New England Journal of Medicine (2012)
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
Yaping Yang;Donna M. Muzny;Fan Xia;Zhiyv Niu.
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)
Joseph Muenzer;James E Wraith;Michael Beck;Roberto Giugliani.
Genetics in Medicine (2006)
Females with Fabry disease frequently have major organ involvement : Lessons from the Fabry Registry
William R. Wilcox;William R. Wilcox;João Paulo Oliveira;Robert J. Hopkin;Alberto Ortiz.
Molecular Genetics and Metabolism (2008)
Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.
Christine M Eng;Dominique P Germain;Maryam Banikazemi;David G Warnock.
Genetics in Medicine (2006)
Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry.
C. M. Eng;J. Fletcher;W. R. Wilcox;S. Waldek.
Journal of Inherited Metabolic Disease (2007)
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
Jennifer E. Posey;Tamar Harel;Pengfei Liu;Jill A. Rosenfeld.
The New England Journal of Medicine (2017)
Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome)
Rick Martin;Michael Beck;Christine Eng;Roberto Giugliani.
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