David J. Aughton

1.7k total citations
30 papers, 815 citations indexed

About

David J. Aughton is a scholar working on Genetics, Molecular Biology and Surgery. According to data from OpenAlex, David J. Aughton has authored 30 papers receiving a total of 815 indexed citations (citations by other indexed papers that have themselves been cited), including 15 papers in Genetics, 10 papers in Molecular Biology and 7 papers in Surgery. Recurrent topics in David J. Aughton's work include Genomic variations and chromosomal abnormalities (6 papers), Prenatal Screening and Diagnostics (4 papers) and Genetic Syndromes and Imprinting (3 papers). David J. Aughton is often cited by papers focused on Genomic variations and chromosomal abnormalities (6 papers), Prenatal Screening and Diagnostics (4 papers) and Genetic Syndromes and Imprinting (3 papers). David J. Aughton collaborates with scholars based in United States, Switzerland and India. David J. Aughton's co-authors include Suzanne B. Cassidy, Stuart Schwartz, John M. Opitz, John B. Mulliken, Piranit Nik Kantaputra, Robert J. Gorlin, Michael M. Kaback, Marilyn C. Jones, Cynthia J. Curry and Christopher Cunniff and has published in prestigious journals such as PEDIATRICS, Human Molecular Genetics and The Journal of Pediatrics.

In The Last Decade

David J. Aughton

28 papers receiving 776 citations

Peers

Countries citing papers authored by David J. Aughton

Since Specialization

Citations

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

Fields of papers citing papers by David J. Aughton

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of David J. Aughton

This figure shows the co-authorship network connecting the top 25 collaborators of David J. Aughton. A scholar is included among the top collaborators of David J. Aughton 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 David J. Aughton. David J. Aughton 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	Constitutional 560.49 kb chromosome 2p24.3 duplication including the MYCN gene identified by SNP chromosome microarray analysis in a child with multiple congenital anomalies and bilateral Wilms tumor 2016 ·European Journal of Medical Genetics ·Mark A. Micale, (unknown), (unknown), (unknown), David J. Aughton	12
2	Velopharyngeal insufficiency, submucous cleft palate and a phonological disorder as the associated clinical features which led to the diagnosis of Jacobsen syndrome. Case report and review of the literature 2013 ·International Journal of Pediatric Otorhinolaryngology ·Antonio Ysunza, Kenneth Shaheen, David J. Aughton, Mark A. Micale, (unknown), (unknown)	6
3	Large duplication in MTM1 associated with myotubular myopathy 2012 ·Neuromuscular Disorders ·Kimberly Amburgey, Michael W. Lawlor, Daniela del Gaudio, (unknown), Carrie Fitzpatrick, (unknown), (unknown), David J. Aughton, Soma Das, Alan H. Beggs, James J. Dowling	7
4	Pseudohypoparathyroidism Type 1A and Morbid Obesity in Infancy 2009 ·Endocrine Practice ·(unknown), David J. Aughton, Michael A. Levine	17
5	Detection of deletions in de novo “balanced” chromosome rearrangements: Further evidence for their role in phenotypic abnormalities 2004 ·Genetics in Medicine ·Caroline Astbury, Laurie A. Christ, David J. Aughton, Suzanne B. Cassidy, Arun Kumar, Evan E. Eichler, Stuart Schwartz	34
6	Delineation of complex chromosomal rearrangements: evidence for increased complexity 2004 ·Human Genetics ·Caroline Astbury, Laurie A. Christ, David J. Aughton, Suzanne B. Cassidy, Atsuko Fujimoto, Beth A. Pletcher, Irwin A. Schafer, Stuart Schwartz	33
7	Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children 2003 ·American Journal of Medical Genetics Part A ·Robert Kleta, David J. Aughton, Michael J. Rivkin, Marjan Huizing, Erin T. Strovel, Yair Anikster, Eduard Orviský, Marvin R. Natowicz, Donna M. Krasnewich, William A. Gahl	28
8	X‐linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male 2002 ·American Journal of Medical Genetics Part A ·David J. Aughton, Richard I. Kelley, Aı̈da Metzenberg, (unknown), Richard M. Pauli	37
9	Cerebro‐osseous‐digital syndrome: Four new cases of a lethal skeletal dysplasia—distinct from Neu‐Laxova syndrome 2002 ·American Journal of Medical Genetics ·Alison M. Elliott, Marie Gonzalès, (unknown), Martine Le Merrer, P Maroteaux, Férechté Encha‐Razavi, Nicole Joyé, (unknown), (unknown), David J. Aughton, (unknown), (unknown), Michael Nerlich, William R. Wilcox, David L. Rimoin, Ralph S. Lachman, Peter Freisinger	1
10	Evaluation of mental retardation: Recommendations of a consensus conference 1997 ·American Journal of Medical Genetics ·Cynthia J. Curry, Roger E. Stevenson, David J. Aughton, Janice L. B. Byrne, John C. Carey, Suzanne B. Cassidy, Christopher Cunniff, John M. Graham, Marilyn C. Jones, Michael M. Kaback, John B. Moeschler, G. Bradley Schaefer, Stuart Schwartz, Jack Tarleton, John M. Opitz	266
11	Molecular Characterization of Breakpoints in Patients with Holoprosencephaly and Definition of the HPE2 Critical Region 2p21 1996 ·Human Molecular Genetics ·(unknown), Johannes Wienberg, Angelika Köhler, Patricia Bray‐Ward, (unknown), William G. Wilson, (unknown), Robert Roger Lebel, Jeffrey R. Sawyer, Paul L. Campbell, David J. Aughton, Hope H. Punnett, Edward J. Lammer, Fa‐Ten Kao, David C. Ward, Maximilian Muenke	48
12	Transient elevation of sweat chloride concentration in a malnourished girl with the Mauriac syndrome 1995 ·The Journal of Pediatrics ·Fernando P. Polack, David J. Transue, (unknown), Bishara J. Freij, David J. Aughton	6
13	Prenatal diagnosis of Smith–Lemli–Opitz syndrome, type II 1994 ·American Journal of Medical Genetics ·Judith A. Johnson, David J. Aughton, Christine H. Comstock, (unknown), James V. Higgins, (unknown)	18
14	Familial Medial Telangiectatic Nevus 1993 ·Plastic & Reconstructive Surgery ·Krystyna A. Pasyk, (unknown), (unknown), (unknown), David J. Aughton	9
15	Dir dup(X) (q13→qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies 1993 ·American Journal of Medical Genetics ·David J. Aughton, (unknown), Judith A. Johnson, David J. Transue, (unknown)	26
16	Cholelithiasis in Infants with Down Syndrome 1992 ·Clinical Pediatrics ·David J. Aughton, (unknown), Alexander Cacciarelli	12
17	Dizygotic twins concordant for truncus arteriosus 1991 ·Clinical Genetics ·(unknown), David J. Aughton, Thomas W. Riggs, Magdy P. Milad, Leslie G. Biesecker	6
18	Physical Features of Prader-Willi Syndrome in Neonates 1990 ·Archives of Pediatrics and Adolescent Medicine ·David J. Aughton	36
19	Diploid/tetraploid mosaicism in a liveborn infant demonstrable only in the bone marrow: case report and literature review 1988 ·Clinical Genetics ·David J. Aughton, Howard M. Saal, (unknown), Zia Ur Rahman, David C. Fisher	14
20	Hydrolethalus syndrome: Report of an apparent mild case, literature review, and differential diagnosis 1987 ·American Journal of Medical Genetics ·David J. Aughton, Suzanne B. Cassidy, John M. Opitz, James F. Reynolds	22

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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