Christine M. Eng

23.4k total citations · 2 hit papers
81 papers, 5.7k citations indexed

About

Christine M. Eng is a scholar working on Genetics, Molecular Biology and Physiology. According to data from OpenAlex, Christine M. Eng has authored 81 papers receiving a total of 5.7k indexed citations (citations by other indexed papers that have themselves been cited), including 33 papers in Genetics, 27 papers in Molecular Biology and 17 papers in Physiology. Recurrent topics in Christine M. Eng's work include Genomics and Rare Diseases (21 papers), Genomic variations and chromosomal abnormalities (21 papers) and Lysosomal Storage Disorders Research (15 papers). Christine M. Eng is often cited by papers focused on Genomics and Rare Diseases (21 papers), Genomic variations and chromosomal abnormalities (21 papers) and Lysosomal Storage Disorders Research (15 papers). Christine M. Eng collaborates with scholars based in United States, United Kingdom and Germany. Christine M. Eng's co-authors include William R. Wilcox, Dominique P. Germain, Maryam Banikazemi, Robert J. Hopkin, David R. Adams, Stephen Waldek, Paul Harmatz, Michael Beck, Joseph Muenzer and Roberto Giugliani and has published in prestigious journals such as New England Journal of Medicine, Nature Genetics and Journal of Clinical Oncology.

In The Last Decade

Christine M. Eng

79 papers receiving 5.6k citations

Hit Papers

align trajectories sort by overperformance

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

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

2016 1.0k citations Sarah S. Kalia, Sherri J. Bale et al. Genetics in Medicine profile →
Fabry disease revisited: Management and treatment recommendations for adult patients

2018 401 citations Alberto Ortíz, Dominique P. Germain et al. Molecular Genetics and Metabolism profile →

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name	h						Papers	Cites
Christine M. Eng United States	34	2.7k	1.9k	1.3k	1.3k	984	81	5.7k
Robert J. Hopkin United States	40	2.8k 1.0×	1.1k 0.6×	1.5k 1.1×	1.5k 1.1×	1.2k 1.3×	189	5.8k
Chester B. Whitley United States	39	3.5k 1.3×	894 0.5×	1.6k 1.2×	1.4k 1.1×	908 0.9×	201	5.1k
Paige Kaplan United States	42	2.9k 1.1×	841 0.5×	1.6k 1.2×	1.5k 1.1×	647 0.7×	135	5.7k
Dicky Halley Netherlands	36	2.0k 0.7×	1.6k 0.9×	1.8k 1.4×	436 0.3×	467 0.5×	129	5.2k
Rossella Parini Italy	38	3.1k 1.2×	533 0.3×	1.5k 1.1×	1.3k 1.0×	1.6k 1.6×	179	5.1k
Maja Di Rocco Italy	34	1.2k 0.4×	860 0.5×	1.5k 1.2×	512 0.4×	778 0.8×	147	3.6k
Emil Kakkis United States	37	3.5k 1.3×	582 0.3×	1.1k 0.8×	1.7k 1.3×	1.2k 1.2×	73	5.0k
Joel Charrow United States	46	4.1k 1.5×	664 0.4×	1.5k 1.2×	2.8k 2.1×	1.2k 1.2×	143	7.1k
Allan M. Lund Denmark	32	1.1k 0.4×	876 0.5×	1.1k 0.9×	674 0.5×	756 0.8×	171	3.3k
Dau‐Ming Niu Taiwan	31	1.7k 0.6×	427 0.2×	921 0.7×	802 0.6×	716 0.7×	173	3.2k

Countries citing papers authored by Christine M. Eng

Since Specialization

Citations

This map shows the geographic impact of Christine M. Eng's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Christine M. Eng with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Christine M. Eng more than expected).

Fields of papers citing papers by Christine M. Eng

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Christine M. Eng. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Christine M. Eng. The network helps show where Christine M. Eng may publish in the future.

Co-authorship network of co-authors of Christine M. Eng

This figure shows the co-authorship network connecting the top 25 collaborators of Christine M. Eng. A scholar is included among the top collaborators of Christine M. Eng based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Christine M. Eng. Christine M. Eng is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

Zhao, Sen, Hongzheng Dai, Jill A. Rosenfeld, et al.. (2025). Clinical validation of RNA sequencing for Mendelian disorder diagnostics. The American Journal of Human Genetics. 112(4). 779–792. 7 indexed citations

Yuan, Bo, Nurit Assia Batzir, Hongzheng Dai, et al.. (2022). Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits. Genome Medicine. 14(1). 113–113. 2 indexed citations

Wang, Julia, Wenmiao Zhu, Hongzheng Dai, et al.. (2021). PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy. Clinical Genetics. 100(2). 227–233. 11 indexed citations

Saucier, Jennifer, Sarah A. Prins, Meenakshi Malhotra, et al.. (2020). Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach. Genetics in Medicine. 22(8). 1320–1328. 63 indexed citations

Kumar, Akash, Diane B. Zastrow, Elijah Kravets, et al.. (2019). Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review. American Journal of Medical Genetics Part A. 179(6). 966–977. 16 indexed citations

Zastrow, Diane B., Jennefer N. Kohler, Devon Bonner, et al.. (2019). A toolkit for genetics providers in follow‐up of patients with non‐diagnostic exome sequencing. Journal of Genetic Counseling. 28(2). 213–228. 5 indexed citations

Batzir, Nurit Assia, Tanya N. Eble, Pengfei Liu, et al.. (2019). De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. Molecular Case Studies. 5(3). a003673–a003673. 26 indexed citations

Ortíz, Alberto, Dominique P. Germain, Robert J. Desnick, et al.. (2018). Fabry disease revisited: Management and treatment recommendations for adult patients. Molecular Genetics and Metabolism. 123(4). 416–427. 401 indexed citations breakdown →

Kalia, Sarah S., Sherri J. Bale, Wendy K. Chung, et al.. (2016). 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. Genetics in Medicine. 19(2). 249–255. 1023 indexed citations breakdown →

10.

McGuire, Amy L., Quianta Moore, Mary A. Majumder, et al.. (2016). The ethics of conducting molecular autopsies in cases of sudden death in the young. Genome Research. 26(9). 1165–1169. 13 indexed citations

11.

Vatta, Matteo, Zhiyv Niu, James R. Lupski, et al.. (2013). Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. PMC.

12.

Berg, Jonathan S., Laura M. Amendola, Christine M. Eng, et al.. (2013). Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. Genetics in Medicine. 15(11). 860–867. 86 indexed citations

13.

Tang, Sha, Blair Stevens, Ganka Douglas, et al.. (2012). Characterization of a recurrent 3.8kb deletion involving exons 17a and 17b within the CFTR gene. Journal of Cystic Fibrosis. 12(3). 290–294. 6 indexed citations

14.

Oshima, Junko, Daniel B. Magner, Jennifer A. Lee, et al.. (2009). Regional genomic instability predisposes to complex dystrophin gene rearrangements. Human Genetics. 126(3). 411–423. 40 indexed citations

15.

Nagamani, Sandesh C. Sreenath, Ayelet Erez, Christine M. Eng, et al.. (2008). Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss. European Journal of Human Genetics. 17(5). 573–581. 39 indexed citations

16.

Dhar, Shweta U., Fernando Scaglia, Laurie D. Smith, et al.. (2008). Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency. Molecular Genetics and Metabolism. 96(1). 38–43. 45 indexed citations

17.

Eng, Christine M., Joseph Muenzer, Ed Wraith, et al.. (2007). 39 Formation of a Lysosomal Disease Testing Network to enhance the delivery of diagnostic services to patients with lysosomal storage disorders. Molecular Genetics and Metabolism. 92(4). 20–20. 1 indexed citations

18.

Muenzer, Joseph, J. E. Wraith, Michael Beck, et al.. (2006). A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genetics in Medicine. 8(8). 465–473. 457 indexed citations

19.

Roa, Benjamin B., Joseph F. Pulliam, Christine M. Eng, & Sau Wai Cheung. (2005). Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis. Expert Review of Molecular Diagnostics. 5(6). 883–892. 14 indexed citations

20.

Eng, Christine M., Maryam Banikazemi, Ronald E. Gordon, et al.. (2001). A Phase 1/2 Clinical Trial of Enzyme Replacement in Fabry Disease: Pharmacokinetic, Substrate Clearance, and Safety Studies. The American Journal of Human Genetics. 68(3). 711–722. 306 indexed citations

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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