Christine M. Eng

23.4k citations

81 papers · 5.7k indexed · 2 hit papers · h-index 34

Physiology top 0.5%
Genetics top 0.5%
Molecular Biology top 5%
Epidemiology top 2%
Rheumatology top 0.5%

Co-authors: William R. Wilcox Dominique P. Germain Maryam Banikazemi Robert J. Hopkin David R. Adams Stephen Waldek Paul Harmatz Roberto Giugliani
Topics: Genomics and Rare Diseases (21 papers)Genomic variations and chromosomal abnormalities (21 papers)Lysosomal Storage Disorders Research (15 papers)
Cited by: Physiology Genetics Rheumatology
Journals: New England Journal of Medicine Nature Genetics Journal of Clinical Oncology
Partner nations: United States United Kingdom Germany

In The Last Decade

Christine M. Eng

79 papers receiving 5.6k citations

Hit Papers

align trajectories

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

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

#	Work	Indexed citations
1	Clinical validation of RNA sequencing for Mendelian disorder diagnostics 2025 ·The American Journal of Human Genetics ·Sen Zhao,(unknown),(unknown),Hongzheng Dai,Jill A. Rosenfeld,Gladys Zapata,Shenglan Li,Patricia A. Ward,(unknown),Chunjing Qu,(unknown),Brendan Lee,Christine M. Eng,Pengfei Liu	7
2	Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits 2022 ·Genome Medicine ·Bo Yuan,(unknown),Nurit Assia Batzir,(unknown),Hongzheng Dai,Wenmiao Zhu,(unknown),Chin‐To Fong,J. Lloyd Holder,Joanne Nguyen,Christian P. Schaaf,Yaping Yang,Weimin Bi,Christine M. Eng,Chad A. Shaw,James R. Lupski,Pengfei Liu	2
3	PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy 2021 ·Clinical Genetics ·(unknown),Julia Wang,Wenmiao Zhu,Hongzheng Dai,John Pappas,Rachel Rabin,Karen Low,Jill A. Rosenfeld,Lisa Emrick,Rui Xiao,Fan Xia,Yaping Yang,Christine M. Eng,Anne E. Anderson,Vann Chau,Claudia Soler‐Alfonso,Haley Streff,Seema R. Lalani,Saadet Mercimek‐Andrews,(unknown),(unknown),(unknown)	11
4	Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach 2020 ·Genetics in Medicine ·(unknown),Jennifer Saucier,(unknown),Sarah A. Prins,(unknown),Meenakshi Malhotra,Zachary Demko,Christine M. Eng,Louis N. Weckstein,R. Boostanfar,Matthew Rabinowitz,Peter Benn,(unknown),Paul R. Billings	63
5	A toolkit for genetics providers in follow‐up of patients with non‐diagnostic exome sequencing 2019 ·Journal of Genetic Counseling ·Diane B. Zastrow,Jennefer N. Kohler,Devon Bonner,Chloe M. Reuter,Liliana Fernández,Megan E. Grove,Dianna G. Fisk,(unknown),Yaping Yang,Christine M. Eng,Patricia A. Ward,David Bick,Elizabeth A. Worthey,Paul G. Fisher,Euan A. Ashley,Jonathan A. Bernstein,Matthew T. Wheeler	5
6	Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review 2019 ·American Journal of Medical Genetics Part A ·Akash Kumar,Diane B. Zastrow,Elijah Kravets,Daniah Beleford,Maura Ruzhnikov,Megan E. Grove,Annika M. Dries,Jennefer N. Kohler,Daryl Waggott,Yaping Yang,Yong Huang,(unknown),Katherine M. Mackenzie,Christine M. Eng,Paul G. Fisher,Euan A. Ashley,Joyce Teng,David A. Stevenson,Joseph T.C. Shieh,Matthew T. Wheeler,Jonathan A. Bernstein	16
7	Fabry disease revisited: Management and treatment recommendations for adult patientsbreakdown → 2018 ·Molecular Genetics and Metabolism ·Alberto Ortíz,Dominique P. Germain,Robert J. Desnick,Juan Politei,Michael Mauer,Alessandro P. Burlina,Christine M. Eng,Robert J. Hopkin,Dawn A. Laney,Aleš Linhart,Stephen Waldek,Eric Wallace,Frank Weidemann,William R. Wilcox	401
8	Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations 2017 ·Nature Genetics ·Xia Wang,Wu‐Lin Charng,Chun‐An Chen,Jill A. Rosenfeld,Aisha Al Shamsi,Lihadh Al‐Gazali,Marianne McGuire,Nicholas Ah Mew,Georgianne L. Arnold,Chunjing Qu,Yan Ding,Donna M. Muzny,Richard A. Gibbs,Christine M. Eng,Magdalena Walkiewicz,Fan Xia,Sharon E. Plon,James R. Lupski,Christian P. Schaaf,Yaping Yang	41
9	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 Genomicsbreakdown → 2016 ·Genetics in Medicine ·Sarah S. Kalia,(unknown),Sherri J. Bale,Wendy K. Chung,Christine M. Eng,James P. Evans,Gail E. Herman,Sophia B. Hufnagel,Teri E. Klein,Bruce R. Korf,Kent D. McKelvey,Kelly E. Ormond,C. Sue Richards,Christopher N. Vlangos,Michael S. Watson,Christa Lese Martin,David T. Miller	1023
10	The ethics of conducting molecular autopsies in cases of sudden death in the young 2016 ·Genome Research ·Amy L. McGuire,Quianta Moore,Mary A. Majumder,Magdalena Walkiewicz,Christine M. Eng,John W. Belmont,(unknown),Sandra Darilek,(unknown),Stacey Pereira,Steven E. Scherer,V. Reid Sutton,Dwayne A. Wolf,Richard A. Gibbs,Roger Kahn,Luis A. Sánchez	13
11	Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype 2016 ·Molecular Case Studies ·Diane B. Zastrow,Patricia A. Zornio,Annika M. Dries,Jennefer N. Kohler,Liliana Fernández,Daryl Waggott,Magdalena Walkiewicz,Christine M. Eng,Melanie A. Manning,Ellyn Farrelly,(unknown),Paul G. Fisher,Euan A. Ashley,Jonathan A. Bernstein,Matthew T. Wheeler	4
12	Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle 2016 ·Molecular Case Studies ·Frank Y. Lin,Katie Bergstrom,Richard Person,Abhishek Bavle,Leomar Y. Ballester,Sarah Scollon,(unknown),Andrew Jea,Sherri Birchansky,David A. Wheeler,Stacey L. Berg,Murali Chintagumpala,Adekunle M. Adesina,Christine M. Eng,Angshumoy Roy,Sharon E. Plon,D. Williams Parsons	17
13	Characterization of a recurrent 3.8kb deletion involving exons 17a and 17b within the CFTR gene 2012 ·Journal of Cystic Fibrosis ·Sha Tang,(unknown),Blair Stevens,Ganka Douglas,Sally Mason,Eric Schmitt,Christine M. Eng,Marcia Katz,Ping Fang	6
14	Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss 2008 ·European Journal of Human Genetics ·Sandesh C. Sreenath Nagamani,Ayelet Erez,Christine M. Eng,Zhishuo Ou,Craig Chinault,(unknown),James G. Coldwell,Paweł Stankiewicz,Ankita Patel,James R. Lupski,Sau Wai Cheung	39
15	Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency 2008 ·Molecular Genetics and Metabolism ·Shweta U. Dhar,Fernando Scaglia,(unknown),Laurie D. Smith,Bruce A. Barshop,Christine M. Eng,Richard Haas,Jill V. Hunter,Timothy Lotze,Bruno Maranda,Mary Willis,José E. Abdenur,(unknown),Wendy J. O’Brien,(unknown)	45
16	A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome) 2006 ·Genetics in Medicine ·Joseph Muenzer,J. E. Wraith,Michael Beck,Roberto Giugliani,Paul Harmatz,Christine M. Eng,Ashok Vellodi,Rick Martin,Uma Ramaswami,Müge Güçsavaş‐Çalıkoğlu,Suresh Vijayaraghavan,S. Wendt,(unknown),(unknown),Marwan Shinawi,Maureen Cleary,(unknown),(unknown),Alan Kimura	457
17	Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis 2005 ·Expert Review of Molecular Diagnostics ·Benjamin B. Roa,Joseph F. Pulliam,Christine M. Eng,Sau Wai Cheung	14
18	Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: Evidence that 3199del6 is a disease-causing mutation 2004 ·Genetics in Medicine ·I. Buyse,Sarah McCarthy,(unknown),(unknown),(unknown),(unknown),Eric Schmitt,Patricia A. Ward,Christopher M. Oermann,Christine M. Eng,Benjamin B. Roa	8
19	A Phase 1/2 Clinical Trial of Enzyme Replacement in Fabry Disease: Pharmacokinetic, Substrate Clearance, and Safety Studies 2001 ·The American Journal of Human Genetics ·Christine M. Eng,Maryam Banikazemi,Ronald E. Gordon,Martin Goldman,Robert Phelps,(unknown),Alan Gass,Jonathan Winston,Steven Dikman,John T. Fallon,Scott E. Brodie,Charles B. Stacy,Davendra Mehta,Rosaleen Parsons,Karen I. Norton,Michael O’Callaghan,Robert J. Desnick	306
20	Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse 1991 ·Genomics ·Christine M. Eng,Christine A. Kozak,Arthur L. Beaudet,Huda Y. Zoghbi	35

About Christine M. Eng

Christine M. Eng is a scholar working on Genetics, Pediatrics, Perinatology and Child Health and Physiology, having authored 81 papers that have together received 5.7k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (21 papers), Genomic variations and chromosomal abnormalities (21 papers) and Lysosomal Storage Disorders Research (15 papers). The work is most often cited by research in Physiology (2.7k citations), Genetics (1.9k citations) and Rheumatology (984 citations). Christine M. Eng has collaborated with scholars based in United States, United Kingdom and Germany. Frequent co-authors include William R. Wilcox, Dominique P. Germain, Maryam Banikazemi, Robert J. Hopkin, David R. Adams, Stephen Waldek, Paul Harmatz, Roberto Giugliani, Joseph Muenzer and Michael Beck. Their work appears in journals such as New England Journal of Medicine, Nature Genetics and Journal of Clinical Oncology.

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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