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Christine M. Eng

Safety and Efficacy of Recombinant Human α-Galactosidase A Replacement Therapy in Fabry's Disease
2001 · Christine M. Eng, Nathalie Guffon, et al. · New England Journal of Medicine · 1,560
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Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype1
2003 · Shoichiro Nakao, Chihaya Kodama, et al. · Kidney International · 436
An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium
1991 · Wolfgang von Scheidt, Christine M. Eng, et al. · New England Journal of Medicine · 371
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Improvement in Cardiac Function in the Cardiac Variant of Fabry's Disease with Galactose-Infusion Therapy
2001 · Andrea Frustaci, Cristina Chimenti, et al. · New England Journal of Medicine · 332
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Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
2019 · Pamela Feliciano, Pamela Feliciano, et al. · npj Genomic Medicine · 247
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Frequency and Carrier Risk Associated with Common BRCA1 and BRCA2 Mutations in Ashkenazi Jewish Breast Cancer Patients
1998 · Flora H. Fodor, Ainsley Weston, et al. · The American Journal of Human Genetics · 220
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
1993 · C M Eng, L A Resnick-Silverman, et al. · PubMed · 219
The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations.
2001 · J M Satagopan, K Offit, et al. · PubMed · 218
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
1989 · H S Bernstein, D F Bishop, et al. · Journal of Clinical Investigation · 163
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Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.
1993 · A Sibille, C M Eng, et al. · PubMed · 157
Molecular basis of fabry disease: Mutations and polymorphisms in the human α-galactosidase A gene
1994 · Christine M. Eng, Robert J. Desnick · Human Mutation · 142
Chromosomal Microarray Versus Karyotyping for Prenatal Diagnosis
2013 · Ronald J. Wapner, Christa Lese Martin, et al. · Obstetrical & Gynecological Survey · 132
Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
1997 · C M Eng, G A Ashley, et al. · PubMed · 125
Fabry Disease: Thirty-Five Mutations in the α-Galactosidase A Gene in Patients with Classic and Variant Phenotypes
1997 · Christine M. Eng, Grace A. Ashley, et al. · Molecular Medicine · 122
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Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the α-galactosidase A gene
1994 · Christine M. Eng, Dana J. Niehaus, et al. · Human Molecular Genetics · 118
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
2016 · Hsiao-Tuan Chao, Mariska Davids, et al. · The American Journal of Human Genetics · 115
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Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
2000 · P Ashton-Prolla, B Tong, et al. · PubMed · 115
Pulmonary Involvement in Fabry Disease
1997 · L K Brown, A Miller, et al. · American Journal of Respiratory and Critical Care Medicine · 94
Twenty Novel Mutations in the α-Galactosidase A Gene Causing Fabry Disease
1999 · Ali K. Topaloglu, Grace A. Ashley, et al. · Molecular Medicine · 81
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A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
2018 · Vandana Shashi, Vandana Shashi, et al. · Genetics in Medicine · 76
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Prenatal Genetic Carrier Testing Using Triple Disease Screening
1997 · Christine M. Eng · JAMA · 76
Fabry disease: twenty novel α-galactosidase A mutations causing the classical phenotype
2001 · G. A. Ashley, J. Shabbeer, et al. · Journal of Human Genetics · 73
Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.
1994 · J B Sherman, N Raben, et al. · PubMed · 66
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects
2019 · Andrea Accogli, Sara Calabretta, et al. · The American Journal of Human Genetics · 53
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Invariant exon skipping in the human α-galactosidase A pre-mRNA: A g+1 to t substitution in a 5′-splice site causing Fabry disease
1992 · Hitoshi Sakuraba, Christine M. Eng, et al. · Genomics · 48
Works count: 54
Citation count: 5,776
H-index: 31
I10-index: 41
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