Ephrem Chin

1.1k citations

17 papers · 476 · h-index 11

Impact in

Genetics
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
Molecular Biology
- Glycosylation and Glycoproteins Research
- Muscle Physiology and Disorders
- CRISPR and Genetic Engineering

Papers in

Genetics 10
- Genomics and Rare Diseases 5
- Genomic variations and chromosomal abnormalities 3
- Animal Genetics and Reproduction 1
Immunology 3

Co-authors: Madhuri Hegde (14 shared papers)Cristina da Silva (2 shared papers)Shruti Bhide (3 shared papers)Devin Rhodenizer (3 shared papers)Bradford W. Coffee (4 shared papers)Stephen T. Warren (1 shared paper)Michael E. Zwick (1 shared paper)Jennifer Gladys Mulle (1 shared paper)
Journals: Genetics in Medicine (3 papers)BMC Genetics (2 papers)Journal of Molecular Diagnostics (2 papers)Orphanet Journal of Rare Diseases (1 paper)The American Journal of Human Genetics (1 paper)
Partner nations: United States Malaysia

In The Last Decade

Ephrem Chin

17 papers receiving 460 citations

Peers

Countries citing papers authored by Ephrem Chin

Since Specialization

Citations

This map shows the geographic impact of Ephrem Chin'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 Ephrem Chin with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Ephrem Chin more than expected).

Fields of papers citing papers by Ephrem Chin

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Ephrem Chin. 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 Ephrem Chin. The network helps show where Ephrem Chin may publish in the future.

Co-authors

The 25 scholars most cited alongside Ephrem Chin, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Ephrem Chin Line = papers co-authored together Ephrem Chin links everyone, so they are left out of the graph.

All Works

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17 of 17 papers shown

#	Work
1	Microarray-based mutation detection in thedystrophingene Human Mutation ·Madhuri Hegde, Ephrem Chin, Jennifer Gladys Mulle, David T. Okou, Stephen T. Warren, Michael E. Zwick	2008	83
2	Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation Genetics in Medicine ·Melanie A. Jones, Shruti Bhide, Ephrem Chin, Bobby G. Ng, Devin Rhodenizer, Victor Wei Zhang, Jessica Sun, Alice K. Tanner, Hudson H. Freeze, Madhuri Hegde	2011	77
3	Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations BMC Genetics ·Ephrem Chin, Cristina da Silva, Madhuri Hegde	2013	74
4	DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation The American Journal of Human Genetics ·Melanie A. Jones, Bobby Ng, Shruti Bhide, Ephrem Chin, Devin Rhodenizer, Ping He, Marie‐Estelle Losfeld, Miao He, Kimiyo Raymond, Gerard T. Berry, Hudson H. Freeze, Madhuri Hegde	2012	61
5	Assessment of Target Enrichment Platforms Using Massively Parallel Sequencing for the Mutation Detection for Congenital Muscular Dystrophy Journal of Molecular Diagnostics ·C. Alexander Valencia, Devin Rhodenizer, Shruti Bhide, Ephrem Chin, Martin Robert Littlejohn, Lisa Mari Keong, Anne Rutkowski, Carsten G. Bönnemann, Madhuri Hegde	2012	43
6	Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications Genetics in Medicine ·Marwan K. Tayeh, Ephrem Chin, Vanessa Rangel Miller, Lora Jh Bean, Bradford W. Coffee, Madhuri Hegde	2009	35
7	Novel human pathological mutations Human Genetics ·Ephrem Chin, Lora Jh Bean, Bradford W. Coffee, Madhuri Hegde	2009	21
8	The rheumatoid factor reactivity of a human IgG monoclonal autoantibody is encoded by a variant V kappa II L chain gene The Journal of Immunology ·Richard H. Weisbart, Andrew L. Wong, Dean T. Noritake, Amelia Kacena, Grace Chan, Christina Ruland, Ephrem Chin, I S Chen, Joseph D. Rosenblatt	1991	18
9	Detection limit of intragenic deletions with targeted array comparative genomic hybridization BMC Genetics ·Syed Hussain Askree, Ephrem Chin, Lora Bean, Bradford W. Coffee, Alice K. Tanner, Madhuri Hegde	2013	14
10	At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children JAMA Network Open ·Jorune Balciuniene, Ruby Liu, Lora Jh Bean, Fen Guo, Babi Ramesh Reddy Nallamilli, Naga Guruju, Xiangwen Chen‐Deutsch, Rizwan Yousaf, Kristina Fura, Ephrem Chin, Abhinav Mathur, Zeqiang Ma, Jonathan B. Carmichael, Cristina da Silva, Christin Collins, Madhuri Hegde	2023	11
11	Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test Genetics in Medicine ·Fen Guo, Ruby Liu, Yinghong Pan, Christin Collins, Lora Jh Bean, Zeqiang Ma, Abhinav Mathur, Cristina da Silva, Babi Ramesh Reddy Nallamilli, Naga Guruju, Xiangwen Chen‐Deutsch, Rizwan Yousaf, Ephrem Chin, Jorune Balciuniene, Madhuri Hegde	2023	11
12	Assessment and Clinical Utility of a Non-Next-Generation Sequencing-Based Non-Invasive Prenatal Testing Technology Current Issues in Molecular Biology ·Uzay Görmüş, Alka Chaubey, Suresh G. Shenoy, Yong Wee Wong, Lee Yin Chan, Bao Ping Choo, Liza Oraha, Anna Gousseva, Fredrik Persson, Lawrence Prensky, Ephrem Chin, Madhuri Hegde	2021	10
13	A Simple Method to Confirm and Size Deletion, Duplication, and Insertion Mutations Detected by Sequence Analysis Journal of Molecular Diagnostics ·Lawrence N. Hjelm, Ephrem Chin, Madhuri Hegde, Bradford W. Coffee, Lora Jh Bean	2010	8
14	Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease Orphanet Journal of Rare Diseases ·Alice K. Tanner, Ephrem Chin, Patricia K. Duffner, Madhuri Hegde	2012	5
15	Detection of VWF Copy Number Variations by Microarray Analysis in Von Willebrand Disease Type 3 Index Cases Blood ·Daniel B. Bellissimo, Ephrem Chin, Madhuri Hegde, Pamela A. Christopherson, Sandra L. Haberichter, Robert R. Montgomery	2011	3
16	Frequently Asked Questions About the Clinical Utility of Next-Generation Sequencing in Molecular Diagnosis of Human Genetic Diseases Ephrem Chin, Victor Wei Zhang, Jing Wang, Margherita Milone, Susan E. Pacheco, William James Craigen, Lee-Jun C. Wong	2013	1
17	Optimizing Array Design and Content for the Modern Cytogenetic Research Lab Cancer Genetics ·Ephrem Chin, Aysel Heckle, Emma Shipstone, Duarte Molha, D. Cook, Stephen J. Archibald	2016	1

About Ephrem Chin

Ephrem Chin is a scholar working on Genetics, Immunology, Molecular Biology, Hematology and Cancer Research, having authored 17 papers that have together received 476 indexed citations. Recurring topics across this work include Genomics and Rare Diseases (5 papers), RNA modifications and cancer (3 papers), Genomic variations and chromosomal abnormalities (3 papers), Glycosylation and Glycoproteins Research (2 papers), Congenital heart defects research (2 papers), Muscle Physiology and Disorders (2 papers), Animal Genetics and Reproduction (1 paper) and Cancer Genomics and Diagnostics (1 paper). The work is most often cited by research in Genetics (153 citations), Molecular Biology (255 citations), Genetics (36 citations), Cancer Research (45 citations) and Clinical Biochemistry (21 citations). Ephrem Chin has collaborated with scholars based in United States and Malaysia. Frequent co-authors include Madhuri Hegde, Cristina da Silva, Shruti Bhide, Devin Rhodenizer, Bradford W. Coffee, Stephen T. Warren, Michael E. Zwick, Jennifer Gladys Mulle, David T. Okou and Lora Jh Bean. Their work appears in journals such as Genetics in Medicine, BMC Genetics, Journal of Molecular Diagnostics, Orphanet Journal of Rare Diseases and The American Journal of Human Genetics.

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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Ephrem Chin

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