Michael Marble

1.6k citations

33 papers · 636 indexed · h-index 13

Impact in

Clinical Biochemistry top 2%
- Metabolism and Genetic Disorders
Genetics top 10%
- Genomic variations and chromosomal abnormalities
- Connective tissue disorders research

Papers in ⓘ

Clinical Biochemistry 7
- Metabolism and Genetic Disorders 7
Genetics 13
- Genomic variations and chromosomal abnormalities 8
- Connective tissue disorders research 4
- Congenital Ear and Nasal Anomalies 3

Co-authors: William J. Rhead (1 shared paper)T. Hashimoto (1 shared paper)Richard I. Kelley (1 shared paper)Hans C. Andersson (1 shared paper)Karen Hofman (1 shared paper)Yasushi Uchida (1 shared paper)Toshifumi Aoyama (1 shared paper)James H. Tonsgard (1 shared paper)
Journals: The Journal of Pediatrics (2 papers)Journal of Pediatric Orthopaedics (2 papers)Human Molecular Genetics (1 paper)European Journal of Medical Genetics (1 paper)Genetics in Medicine (1 paper)
Partner nations: United States United Kingdom Netherlands

In The Last Decade

Michael Marble

31 papers receiving 600 citations

Peers

Countries citing papers authored by Michael Marble

Since Specialization

Citations

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

Fields of papers citing papers by Michael Marble

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

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

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

Showing the 20 most-cited of 33 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	A Novel Disease with Deficiency of Mitochondrial Very-Long-Chain Acyl-CoA Dehydrogenase Biochemical and Biophysical Research Communications ·Toshifumi Aoyama, Yasushi Uchida, Richard I. Kelley, Michael Marble, Karen Hofman, James H. Tonsgard, William J. Rhead, T. Hashimoto	1993	122
2	Mutations in LTBP4 Cause a Syndrome of Impaired Pulmonary, Gastrointestinal, Genitourinary, Musculoskeletal, and Dermal Development The American Journal of Human Genetics ·Zsolt Urbán, Vishwanathan Hucthagowder, Nura Schürmann, Vesna Todorović, Lior Zilberberg, Ji-Won Choi, Carla Sens, Chester Brown, Robin D. Clark, Kristen E. Holland, Michael Marble, Lynn Y. Sakai, Branka Dabovic, Daniel B. Rifkin, Elaine C. Davis	2009	108
3	Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate American Journal of Medical Genetics Part A ·Trilochan Sahoo, Aaron Theisen, Pedro A. Sanchez‐Lara, Michael Marble, Daniela N. Schweitzer, Beth S. Torchia, Allen N. Lamb, Bassem A. Bejjani, Lisa G. Shaffer, Yves Lacassie	2011	53
4	Long-term outcome in treated combined methylmalonic acidemia and homocystinemia Genetics in Medicine ·Hans C. Andersson, Michael Marble, Emmanuel Shapira	1999	46
5	8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients American Journal of Medical Genetics Part A ·John Barber, Jill A. Rosenfeld, Nicola Foulds, Sophie Laird, Mark S. Bateman, N. Simon Thomas, Samantha Baker, Viv Maloney, Arayamparambil C. Anilkumar, Wendy E. Smith, Valerie Banks, Sara Ellingwood, Yara Kharbutli, Lakshmi Mehta, Keith Eddleman, Michael Marble, Regina M. Zambrano, John A. Crolla, Allen N. Lamb	2013	33
6	Neonatal Vitamin B12 Deficiency Secondary to Maternal Subclinical Pernicious Anemia: Identification by Expanded Newborn Screening The Journal of Pediatrics ·Michael Marble, Sara Copeland, Nashat Khanfar, David S. Rosenblatt	2008	30
7	Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance American Journal of Medical Genetics Part A ·John Barber, Jill A. Rosenfeld, John M. Graham, Nancy Kramer, Katherine Lachlan, Mark S. Bateman, Morag N. Collinson, Barbro Stadheim, Claire Turner, Jacqueline N. Gauthier, Tyler Reimschisel, Athar M. Qureshi, Tabib A. Dabir, Mervyn Humphreys, Michael Marble, Taosheng Huang, Sarah J. Beal, Joanne Massiah, Emma‐Jane Taylor, Sarah Wynn	2015	28
8	Characterization of a cystathionine β-synthase allele with three mutations in cis in a patient with B₆ nonresponsive homocystinuria Human Molecular Genetics ·Michael Marble, Michael T. Geraghty, R. de Franchis, Jan P. Kraus, David Vailed	1994	23
9	Positive Newborn Screen in a Normal Infant of a Mother with Asymptomatic Very Long-Chain Acyl-CoA Dehydrogenase Deficiency The Journal of Pediatrics ·Robin McGoey, Michael Marble	2011	17
10	Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay American Journal of Medical Genetics Part A ·Trilochan Sahoo, Aaron Theisen, Michael Marble, Raymond C. Tervo, Jill A. Rosenfeld, Beth S. Torchia, Lisa G. Shaffer	2011	16
11	The Isolation of cDNAs from OATL1 at Xp11.2 Using a 480-kb YAC Genomics ·Michael T. Geraghty, Lawrence C. Brody, Laura Martin, Michael Marble, W.G. Kearns, P. Pearson, Anthony P. Monaco, Hans Lehrach, David Valle	1993	14
12	Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance European Journal of Medical Genetics ·Kelsey Casano, Hannah Meddaugh, Regina M. Zambrano, Michael Marble, Jairo I. Torres, Yves Lacassie	2020	13
13	RAF1 variants causing biventricular hypertrophic cardiomyopathy in two preterm infants: further phenotypic delineation and review of literature Clinical Dysmorphology ·D. S. THOMPSON, Jessica Patrick‐Esteve, Jeffrey W. Surcouf, Dana L Rivera, B. Cancho Castellanos, Pooja Desai, Christian Lilje, Yves Lacassie, Michael Marble, Regina M. Zambrano	2017	13
14	Missense variant in UBA2 associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: A possible new disorder involving the SUMOylation pathway American Journal of Medical Genetics Part A ·Michael Marble, María J. Guillen Sacoto, Rashmi Chikarmane, Dominic Gargiulo, Jane Juusola	2017	12
15	Living Related Liver Transplant in a Patient With Argininosuccinic Aciduria and Cirrhosis: Metabolic Follow‐up Journal of Pediatric Gastroenterology and Nutrition ·Michael Marble, Robin McGoey, Elizabeth E. Mannick, Bronya J.B. Keats, San San Ng, Stephen Deputy, Heidi Gereighty, Eberhard Schmidt‐Sommerfeld	2008	12
16	Subglottic web in a mother and son with 22q11.2 deletion American Journal of Medical Genetics ·Michael Marble, Éva Morava, Fern Tsien, Ronald G. Amedee, Maria R. Pierce	1998	12
17	Monosomy 18p and immunologic dysfunction Clinical Dysmorphology ·Robin McGoey, Abraham Gedalia, Michael Marble	2011	11
18	Congenital insensitivity to pain and anhidrosis: Case report and review of findings along neuro-immune axis in the disorder Journal of the Neurological Sciences ·Aditi Vian Varma, Lori A. McBride, Michael Marble, Ann Tilton	2016	10
19	Report of a new patient with transposition of the great arteries with deletion of 22q11.2 American Journal of Medical Genetics ·Michael Marble, Éva Morava, Robert E Lopez, Maria R. Pierce, Robert L. Pierce	1998	10
20	Scoliosis in velo-cardio-facial syndrome. Journal of Pediatric Orthopaedics ·Éva Morava, Yves Lacassie, Andrew King, Tamás Illés, Michael Marble	2002	10

About Michael Marble

Michael Marble is a scholar working on Clinical Biochemistry, Genetics, Developmental Biology, Genetics and Molecular Biology, having authored 33 papers that have together received 636 indexed citations. Recurring topics across this work include Congenital heart defects research (10 papers), Genomic variations and chromosomal abnormalities (8 papers), Metabolism and Genetic Disorders (7 papers), Congenital Heart Disease Studies (5 papers), Connective tissue disorders research (4 papers), Tracheal and airway disorders (4 papers), Folate and B Vitamins Research (3 papers) and Congenital Ear and Nasal Anomalies (3 papers). The work is most often cited by research in Clinical Biochemistry (193 citations), Genetics (234 citations), Rheumatology (118 citations), Molecular Biology (370 citations) and Pediatrics, Perinatology and Child Health (79 citations). Michael Marble has collaborated with scholars based in United States, United Kingdom and Netherlands. Frequent co-authors include William J. Rhead, T. Hashimoto, Richard I. Kelley, Hans C. Andersson, Karen Hofman, Yasushi Uchida, Toshifumi Aoyama, James H. Tonsgard, Emmanuel Shapira and Robin McGoey. Their work appears in journals such as The Journal of Pediatrics, Journal of Pediatric Orthopaedics, Human Molecular Genetics, European Journal of Medical Genetics and Genetics in Medicine.

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.

Explore authors with similar magnitude of impact