Wendy E. Smith

5.5k citations

56 papers · 4.3k · 2 hit papers · h-index 29

Impact in

Clinical Biochemistry top 0.1%
- Metabolism and Genetic Disorders
Developmental Biology top 2%
- Congenital limb and hand anomalies

Papers in

Clinical Biochemistry 26
- Metabolism and Genetic Disorders 26
Genetics 21
- Genomic variations and chromosomal abnormalities 9
- Genetics and Neurodevelopmental Disorders 7
- Genomics and Rare Diseases 5
- Dermatological and Skeletal Disorders 2
- Connective tissue disorders research 2

Co-authors: Susan A. Berry (9 shared papers)Jerry E. Vockley (7 shared papers)Dianne M. Frazier (2 shared papers)Barbara K. Burton (3 shared papers)Hans C. Andersson (1 shared paper)Kevin M. Antshel (1 shared paper)Nancy Braverman (1 shared paper)Barry H. Thompson (1 shared paper)
Journals: Molecular Genetics and Metabolism (9 papers)Genetics in Medicine (8 papers)Critical Care Clinics (5 papers)The American Journal of Human Genetics (4 papers)Journal of Medical Genetics (2 papers)
Partner nations: United States Canada United Kingdom

In The Last Decade

Wendy E. Smith

54 papers receiving 4.1k citations

Wendy E. Smith's Hit Papers

align trajectories log scale

Phenylalanine hydroxylase deficiency: diagnosis and management guideline 2014 · 551 citations

What are hit papers?

Paper score: A paper's citations measured against the top-1% bar of its own field and year: the square root of citations ÷ bar, so 1 means right at the bar and 2 means four times its citations. The bar blends the citation counts that enter the top 1% of the paper's subfields in its year (weighted 89.5%), of those subfields over all years (0.5%) and of its year across all fields (10%); a subfield and year with fewer than 400 papers takes its year's bar. Papers from 2026 are not scored yet: in an unfinished year, when a paper appeared matters more than how it is cited.

Hit paper: A paper cited at least 1.5× the top-1% bar of its field and year: a paper score of at least √1.5.

2014 Genetics in Medicine
2010 Nature Genetics

Peers

Countries citing papers authored by Wendy E. Smith

Since Specialization

Citations

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

Fields of papers citing papers by Wendy E. Smith

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Wendy E. Smith. 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 Wendy E. Smith. The network helps show where Wendy E. Smith may publish in the future.

Co-authors

The 25 scholars most cited alongside Wendy E. Smith, 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 Wendy E. Smith Line = papers co-authored together Wendy E. Smith links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 56 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Phenylalanine hydroxylase deficiency: diagnosis and management guideline Genetics in Medicine ·Jerry E. Vockley, Hans C. Andersson, Kevin M. Antshel, Nancy Braverman, Barbara K. Burton, Dianne M. Frazier, John J. Mitchell, Wendy E. Smith Hit paper breakdown →	2014	551
2	A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay Nature Genetics ·Santhosh Girirajan, Jill Anne Rosenfeld, Gregory M. Cooper, Francesca Antonacci, Priscillia Siswara, Andy Itsara, Laura Vives, Tom Walsh Hit paper breakdown →	2010	523
3	Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification Nature Genetics ·Frank Rutsch, Nico Ruf, Sucheta M. Vaingankar, Mohammad Reza Toliat, Anita Suk, Wolfgang Ernst Höhne, Galen M. Schauer, Mandy D. Lehmann	2003	515
4	Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial Genetics in Medicine ·Andrea Amalfitano, A. Resai Bengur, Richard P. Morse, Joseph Marc Majure, Laura E. Case, Deborah L. Veerling, Joanne F. Mackey, Priya Sunil Kishnani	2001	315
5	Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients The American Journal of Human Genetics ·Regina E. Ensenauer, Adewale Adeyinka, Heather C. Flynn, Virginia V. Michels, Noralane M. Lindor, D. Brian Dawson, Erik C. Thorland, Cindy Pham Lorentz	2003	313
6	Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6 The American Journal of Human Genetics ·Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen, Tanja Wittkampf, Marcel du Moulin, Jacqueline Stella, Martine F. Le Merrer, Geneviève Guest	2011	275
7	TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome Pediatric Research ·Deborah A. McDermott, Michael C. Bressan, Jié He, Joseph S. Lee, Salim F. Aftimos, Martina K. Brueckner, Gail E. Graham, Mark Hannibal	2005	116
8	Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities The American Journal of Human Genetics ·Blake C. Ballif, Aaron P. Theisen, Jill Anne Rosenfeld, Ryan N. Traylor, Julie M. Gastier, Devon Lamb Thrush, Caroline Astbury, Dennis Bartholomew	2010	110
9	Unmasked Adult-Onset Urea Cycle Disorders in the Critical Care Setting Critical Care Clinics ·Marshall L Summar, Sheila Dawling, Wendy E. Smith, Brendan Lee, Rani H. Singh, William J. Rhead, Lisa Sniderman King, Brian W. Christman +1 other	2005	106
10	Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations Human Mutation ·Jennifer J. Johnston, Julie C. Sapp, Joyce Tannenbaum Turner, David J. Amor, Salim F. Aftimos, Kyrieckos A. Aleck, Maureen E. Bocian, Joann Norma Bodurtha	2010	101
11	Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate Hepatology ·George A. Díaz, Lauren S. Krivitzky, Masoud Mokhtarani, William J. Rhead, James A. Bartley, Annette Feigenbaum, Nicola Longo, William E. Berquist	2012	86
12	Recombinant human acid ??-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial Genetics in Medicine ·Andrea Amalfitano, A. Resai Bengur, Richard P. Morse, Joseph Marc Majure, Laura E. Case, Deborah L. Veerling, Joanne F. Mackey, Priya Sunil Kishnani	2001	83
13	Rare Disorders of Metabolism with Elevated Butyryl- and Isobutyryl-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening Pediatric Research ·Dwight D. Koeberl, Sarah P. Young, Niels Gregersen, Jerry E. Vockley, Wendy E. Smith, Daniel K. Benjamin, S. D. Weavil, Shu Chaing	2003	79
14	Clinical spectrum of SIX3 -associated mutations in holoprosencephaly: correlation between genotype, phenotype and function Journal of Medical Genetics ·Felicitas L. Lacbawan, Benjamin D. Solomon, Erich Roessler, Kênia Balbi El-Jaick, Sabina Domené, Jorge Ivan Velez, Nan Zhou, Donald W. Hadley	2009	76
15	Urea Cycle Disorders: Clinical Presentation Outside the Newborn Period Critical Care Clinics ·Wendy E. Smith, Priya Sunil Kishnani, Brendan Lee, Rani H. Singh, William J. Rhead, Lisa Sniderman King, Michael C. F. Smith, Marshall L Summar	2005	74
16	Evaluation of 3‐methylcrotonyl‐CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening Journal of Inherited Metabolic Disease ·Dwight D. Koeberl, David S. Millington, Wendy E. Smith, S. D. Weavil, Joseph Muenzer, Shawn E. McCandless, Priya Sunil Kishnani, Marie McDonald	2003	70
17	Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome American Journal of Medical Genetics Part A ·Yuri A. Zárate, Constance L. Smith‐Hicks, Carol L. Greene, Mary‐Alice Abbott, Victoria Mok Siu, Amy R. U. L. Calhoun, Arti Pandya, Chumei C. Li	2018	60
18	Further clinical and molecular delineation of the 15q24 microdeletion syndrome Journal of Medical Genetics ·Heather C. Mefford, Jill Anne Rosenfeld, Natasha E. Shur, Anne Michele Slavotinek, Victoria A. Cox, Raoul C. M. Hennekam, Helen V. Firth, Lionel R. Willatt	2011	57
19	Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies Genetics in Medicine ·Michael D. Fountain, David S. Oleson, Megan Rech, Lara Segebrecht, Jill V. Hunter, Philip J. Lupo, Manuel Holtgrewe, Rocio T. Moran	2019	56
20	Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats Human Mutation ·Paweł Stankiewicz, Shashikant Kulkarni, Avinash V. Dharmadhikari, Srirangan Sampath, Samarth Bhatt, Tamim H. Shaikh, Zhilian Xia, Amber Nolen Pursley	2011	43

About Wendy E. Smith

Wendy E. Smith is a scholar working on Clinical Biochemistry, Genetics, Developmental Biology, Physiology and Molecular Biology, having authored 56 papers that have together received 4.3k indexed citations. Recurring topics across this work include Metabolism and Genetic Disorders (26 papers), Genomic variations and chromosomal abnormalities (9 papers), Genetics and Neurodevelopmental Disorders (7 papers), Genomics and Rare Diseases (5 papers), Lysosomal Storage Disorders Research (4 papers), Congenital limb and hand anomalies (3 papers), Dermatological and Skeletal Disorders (2 papers) and Connective tissue disorders research (2 papers). The work is most often cited by research in Clinical Biochemistry (1.1k citations), Developmental Biology (122 citations), Genetics (1.6k citations), Nephrology (297 citations) and Physiology (400 citations). Wendy E. Smith has collaborated with scholars based in United States, Canada and United Kingdom. Frequent co-authors include Susan A. Berry, Jerry E. Vockley, Dianne M. Frazier, Barbara K. Burton, Hans C. Andersson, Kevin M. Antshel, Nancy Braverman, Barry H. Thompson, John J. Mitchell and Priya Sunil Kishnani. Their work appears in journals such as Molecular Genetics and Metabolism, Genetics in Medicine, Critical Care Clinics, The American Journal of Human Genetics and Journal of Medical 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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Wendy E. Smith

Wendy E. Smith's Hit Papers

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Fields of papers citing papers by Wendy E. Smith

All Works

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