J. Edward Spence

2.4k total citations
23 papers, 959 citations indexed

About

J. Edward Spence is a scholar working on Genetics, Molecular Biology and Pediatrics, Perinatology and Child Health. According to data from OpenAlex, J. Edward Spence has authored 23 papers receiving a total of 959 indexed citations (citations by other indexed papers that have themselves been cited), including 13 papers in Genetics, 10 papers in Molecular Biology and 6 papers in Pediatrics, Perinatology and Child Health. Recurrent topics in J. Edward Spence's work include Genomic variations and chromosomal abnormalities (6 papers), Prenatal Screening and Diagnostics (4 papers) and Genetics and Neurodevelopmental Disorders (4 papers). J. Edward Spence is often cited by papers focused on Genomic variations and chromosomal abnormalities (6 papers), Prenatal Screening and Diagnostics (4 papers) and Genetics and Neurodevelopmental Disorders (4 papers). J. Edward Spence collaborates with scholars based in United States, Canada and Spain. J. Edward Spence's co-authors include W E O'Brien, A L Beaudet, David H. Ledbetter, J. Fielding Hejtmancik, M S Pollack, Gillian Greig, H.F. Willard, Robert L. Nussbaum, A Maddalena and J.A. Brown and has published in prestigious journals such as Journal of Clinical Investigation, Annals of Neurology and The American Journal of Human Genetics.

In The Last Decade

J. Edward Spence

23 papers receiving 929 citations

Peers

Countries citing papers authored by J. Edward Spence

Since Specialization

Citations

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

Fields of papers citing papers by J. Edward Spence

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by J. Edward Spence. 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 J. Edward Spence. The network helps show where J. Edward Spence may publish in the future.

Co-authorship network of co-authors of J. Edward Spence

This figure shows the co-authorship network connecting the top 25 collaborators of J. Edward Spence. A scholar is included among the top collaborators of J. Edward Spence 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 J. Edward Spence. J. Edward Spence 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	Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions 2012 ·Molecular Syndromology ·Ryan N. Traylor, William B. Dobyns, Jill A. Rosenfeld, Patricia G. Wheeler, J. Edward Spence, Anne M. Bandholz, Erawati V. Bawle, Erin P. Carmany, Cynthia M. Powell, (unknown), Roger A. Schultz, L.G. Shaffer, (unknown)	31
2	Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS 2010 ·The American Journal of Human Genetics ·Feng Zhang, Lorraine Potocki, Jacinda B. Sampson, Pengfei Liu, Amarilis Sanchez‐Valle, Patricia Robbins‐Furman, (unknown), Patricia G. Wheeler, J. Edward Spence, Campbell K. Brasington, Marjorie Withers, James R. Lupski	74
3	Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations 2009 ·Genetics in Medicine ·Jill A. Rosenfeld, Kathleen A. Leppig, Blake C. Ballif, Heidi Thiese, Christine Erdie-Lalena, (unknown), (unknown), J. Edward Spence, Anne M. Bandholz, Urvashi Surti, Jonathan Zonana, Kory Keller, Wendy S. Meschino, Bassem A. Bejjani, Beth S. Torchia, Lisa G. Shaffer	55
4	Craniofacioskeletal syndrome: An X‐linked dominant disorder with early lethality in males 2007 ·American Journal of Medical Genetics Part A ·Roger E. Stevenson, (unknown), Cindy Skinner, Richard J. Simensen, J. Edward Spence, Shelli R. Kesler, Allan L. Reiss, Charles E. Schwartz	1
5	Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome 2003 ·American Journal of Medical Genetics Part A ·Jennifer J. Johnston, Isabelle Olivos‐Glander, Joyce Turner, Kyrieckos A. Aleck, Lynne M. Bird, Lakshmi Mehta, R. Neil Schimke, Heidi A. Heilstedt, J. Edward Spence, Jan Blancato, Leslie G. Biesecker	37
6	Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy 2001 ·American Journal of Medical Genetics ·Charlotte A. Brown, (unknown), Kimberly Q. McKinney, (unknown), (unknown), Carol A. Crowe, Basil T. Darras, Stasha Gominak, Cheryl R. Greenberg, Carla Grosmann, Peter Heydemann, Jerry R. Mendell, Barbara R. Pober, Takeshi Sasaki, (unknown), David Simpson, Oksana Suchowersky, J. Edward Spence	90
7	Two distal mutations in the gene encoding emerin have profoundly different effects on emerin protein expression 2000 ·Neuromuscular Disorders ·Juliet A. Ellis, Charlotte A. Brown, (unknown), John Kendrick‐Jones, J. Edward Spence, John R.W. Yates	12
8	Prenatal diagnosis of fatal infantile olivopontocerebellar hypoplasia syndrome 1999 ·Prenatal Diagnosis ·Avick G. Mitra, (unknown), J. Edward Spence	14
9	Tetrasomy 9p: Tissue‐limited idic(9p) in a child with mild manifestations and a normal CVS result. Report and review 1993 ·American Journal of Medical Genetics ·Frank S. Grass, James C. Parke, Henry N. Kirkman, (unknown), (unknown), Ronald V. Wade, (unknown), J. Edward Spence	23
10	Parental origin determination in thirty de novo Robertsonian translocations 1992 ·American Journal of Medical Genetics ·Lisa G. Shaffer, Colleen Jackson‐Cook, (unknown), J. Edward Spence, J.A. Brown	26
11	Tracheomalacia in Hallermann–Streiff Syndrome 1991 ·American Journal of Medical Genetics ·Bonnie Anne Salbert, Cathy A. Stevens, J. Edward Spence	7
12	A molecular genetic approach to the identification of isochromosomes of chromosome 21 1991 ·Human Genetics ·(unknown), (unknown), (unknown), (unknown), J. Edward Spence	60
13	Monozygotic twins discordant for Ullrich‐Turner syndrome 1991 ·American Journal of Medical Genetics ·Paul B. Kaplowitz, Joann Bodurtha, J.A. Brown, J. Edward Spence	18
14	Prenatal diagnosis and heterozygote detection by DNA analysis in ornithine transcarbamylase deficiency 1989 ·The Journal of Pediatrics ·J. Edward Spence, Anne Maddalena, William E. O’Brien, Susan Fernbach, (unknown), (unknown), (unknown)	20
15	Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. 1988 ·Journal of Clinical Investigation ·A Maddalena, J. Edward Spence, W E O'Brien, Robert L. Nussbaum	52
16	Prenatal diagnosis of cystic fibrosis: microvillar enzymes and DNA analysis compared. 1988 ·Clinical Chemistry ·G J Buffone, J. Edward Spence, (unknown), (unknown), W E O'Brien, Arthur L. Beaudet	12
17	Exclusion of close linkage between the loci for cystic fibrosis and neuropeptide Y on human chromosome 7 1987 ·Cytogenetic and Genome Research ·Miriam H. Meisler, J. Edward Spence, Jack E. Dixon, (unknown), C D Minth, A L Beaudet	5
18	Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis 1987 ·Human Genetics ·J. Edward Spence, (unknown), C L Rosenbloom, (unknown), (unknown), (unknown), (unknown), (unknown), (unknown)	29
19	Atypical presentation and neuropathological studies in 3‐hydroxy‐3‐methylglutaryl–CoA lyase deficiency 1986 ·Annals of Neurology ·Huda Y. Zoghbi, J. Edward Spence, Arthur L. Beaudet, William E. O’Brien, (unknown), K. Michael Gibson	16
20	Linkage of DNA markers to cystic fibrosis in 26 families. 1986 ·PubMed ·J. Edward Spence, C L Rosenbloom, W E O'Brien, Dan K. Seilheimer, Shelley A. Cole, R E Ferrell, Robert C. Stern, A L Beaudet	13

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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