Carol Saunders

6.3k citations

59 papers · 1.3k indexed · h-index 22

Impact in

Genetics top 5%
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Neurogenetic and Muscular Disorders Research
Clinical Biochemistry top 5%
- Metabolism and Genetic Disorders

Papers in

Genetics 39
- Genomics and Rare Diseases 22
- Genetics and Neurodevelopmental Disorders 14
- Genomic variations and chromosomal abnormalities 10
Clinical Biochemistry 4
- Metabolism and Genetic Disorders 4

Co-authors: Stephen F. Kingsmore Emily Farrow Neil Miller Robert S. Cohen Sarah Soden Isabelle Thiffault Laurie D. Smith Darrell L. Dinwiddie
Journals: Human Mutation (4 papers)Frontiers in Immunology (2 papers)Genetics in Medicine (2 papers)Molecular Case Studies (2 papers)Genomics (2 papers)
Partner nations: United States Italy Canada

In The Last Decade

Carol Saunders

56 papers receiving 1.3k citations

Peers

Countries citing papers authored by Carol Saunders

Since Specialization

Citations

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

Fields of papers citing papers by Carol Saunders

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

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

All Works

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20 of 20 papers shown

#	Work
1	SF3B2 Haploinsufficiency Associated With Hirschprung Disease and Complex Cardiac Defect Without Craniofacial Microsomia American Journal of Medical Genetics Part A ·Florencia Del Viso, Dihong Zhou, Susan Starling, Emily Fleming, Carol Saunders	2024	0
2	Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis Journal of Molecular Diagnostics ·Brian Lee, Lily Nasanovsky, Li Shen, Dennis T. Maglinte, Yachen Pan, Xiaowu Gai, Ryan J. Schmidt, Gordana Raca, Jaclyn A. Biegel, Megan Roytman, Paul An, Carol Saunders, Emily Farrow, Soheil Shams, Jianling Ji	2024	2
3	Phenotypic expansion and variable expressivity in individuals with JARID2 ‐related intellectual disability: A case series Clinical Genetics ·Maxime Cadieux‐Dion, Emily Farrow, Isabelle Thiffault, Ana S.A. Cohen, Holly Welsh, Lauren Bartik, Caitlin Schwager, Kendra Engleman, Dihong Zhou, Lei Zhang, Elena Repnikova, Shivarajan Amudhavalli, Carol Saunders	2022	2
4	Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing Journal of Molecular Diagnostics ·Lisa A. Lansdon, Maxime Cadieux‐Dion, Byunggil Yoo, Neil Miller, Ana S.A. Cohen, Lee Zellmer, Lei Zhang, Emily Farrow, Isabelle Thiffault, Elena Repnikova, Linda D. Cooley, Joseph T. Alaimo, Binu Porath, John Herriges, Carol Saunders, Midhat S. Farooqi	2021	12
5	Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care Genetics in Medicine ·Courtney Berrios, Emily A. Hurley, Laurel K. Willig, Isabelle Thiffault, Carol Saunders, Tomi Pastinen, Kathy Goggin, Emily Farrow	2021	13
6	Second patient with GNB2-related neurodevelopmental disease: Further evidence for a gene-disease association European Journal of Medical Genetics ·Lisa A. Lansdon, Emily Fleming, Florencia Del Viso, Bonnie Sullivan, Carol Saunders	2021	0
7	High Molecular Diagnosis Rate in Undermasculinized Males with Differences in Sex Development Using a Stepwise Approach Endocrinology ·Jill D. Jacobson, Laurel K. Willig, John Gatti, Julie Strickland, Anna Egan, Carol Saunders, Emily Farrow, Leslie L. Heckert	2020	10
8	Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing Molecular Case Studies ·Isabelle Thiffault, Andrea M. Atherton, Bryce A. Heese, Ahmed Abdelmoity, Kailash Pawar, Emily Farrow, Lee Zellmer, Neil Miller, Sarah Soden, Carol Saunders	2020	4
9	Clinical genome sequencing in an unbiased pediatric cohort Genetics in Medicine ·Isabelle Thiffault, Emily Farrow, Lee Zellmer, Courtney Berrios, Neil Miller, Margaret Gibson, Raymond Caylor, Janda Jenkins, Deb Faller, Sarah Soden, Carol Saunders	2018	31
10	Challenging diagnosis of congenital hyperinsulinism in two infants of diabetic mothers with rare pathogenic KCNJ11 and HNF4A gene variants International Journal of Pediatric Endocrinology ·Lina Huerta‐Saenz, Carol Saunders, Yun Yan	2018	4
11	Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report BMC Medical Genetics ·Maxime Cadieux‐Dion, Nicole P. Safina, Kendra Engleman, Carol Saunders, Elena Repnikova, Nikita Raje, Kristi Canty, Emily Farrow, Neil Miller, Lee Zellmer, Isabelle Thiffault	2018	6
12	Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease BMC Medical Genetics ·Isabelle Thiffault, Britton Zuccarelli, Holly Welsh, Xuan Yuan, Emily Farrow, Lee Zellmer, Neil Miller, Sarah Soden, Ahmed Abdelmoity, Robert A. Brodsky, Carol Saunders	2017	11
13	Two Brothers with Atypical UNC13D-Related Hemophagocytic Lymphohistiocytosis Characterized by Massive Lung and Brain Involvement Frontiers in Immunology ·Giuliana Giardino, Maia De Luca, Emilia Cirillo, Paolo Palma, Roberta Romano, Massimiliano Valeriani, Laura Papetti, Carol Saunders, Caterina Cancrini, Claudio Pignata	2017	9
14	CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria The American Journal of Human Genetics ·Carol Saunders, Laurie D. Smith, Flemming Wibrand, Kirstine Ravn, Peter Bross, Isabelle Thiffault, Mette Christensen, Andrea M. Atherton, Emily Farrow, Neil Miller, Stephen F. Kingsmore, Elsebet Østergaard	2015	44
15	Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing Genomics ·Darrell L. Dinwiddie, Julia M. Bracken, Julie Bass, Kathy Christenson, Sarah Soden, Carol Saunders, Neil Miller, Vivekanand Singh, David L. Zwick, Charles C. Roberts, Jignesh Dalal, Stephen F. Kingsmore	2013	28
16	De novoframeshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies BMC Medical Genomics ·Darrell L. Dinwiddie, Sarah Soden, Carol Saunders, Neil Miller, Emily Farrow, Laurie D. Smith, Stephen F. Kingsmore	2013	38
17	Mutations in MECP2 exon 1 in classical rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2 American Journal of Medical Genetics Part B Neuropsychiatric Genetics ·Peter J. Gianakopoulos, Yuzhi Zhang, Nela Pencea, M Orlic-Milacic, Kirti Mittal, Christian Windpassinger, S.W. White, Peter M. Kroisel, Eva W.C. Chow, Carol Saunders, Berge A. Minassian, John B. Vincent	2011	21
18	Allele Drop-Out in the MECP2 Gene Due to G-Quadruplex and i-Motif Sequences When Using Polymerase Chain Reaction-Based Diagnosis for Rett Syndrome Genetic Testing and Molecular Biomarkers ·Carol Saunders, Michael J. Friez, Melanie Patterson, Masha Nzabi, Weiwei Zhao, Chengpeng Bi	2010	10
19	ComprehensiveZEB2gene analysis for Mowat–Wilson syndrome in a North American cohort: A suggested approach to molecular diagnostics American Journal of Medical Genetics Part A ·Carol Saunders, Weiwei Zhao, Holly H Ardinger	2009	28
20	DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy Neuromuscular Disorders ·Kevin M. Flanigan, Diane M. Dunn, Andrew von Niederhausern, Michael Howard, Jerry R. Mendell, Anne M. Connolly, Carol Saunders, Ann Modrcin, Majed Dasouki, Giacomo P. Comi, Roberto Del Bo, Angela Pickart, Richard D. Jacobson, Richard S. Finkel, Līvija Medne, Robert B. Weiss	2009	34

About Carol Saunders

Carol Saunders is a scholar working on Genetics, Clinical Biochemistry, Developmental Biology, Cancer Research and Molecular Biology, having authored 59 papers that have together received 1.3k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (22 papers), Genetics and Neurodevelopmental Disorders (14 papers), Genomic variations and chromosomal abnormalities (10 papers), Cancer Genomics and Diagnostics (5 papers), Ethics in Clinical Research (4 papers), Mitochondrial Function and Pathology (4 papers), Metabolism and Genetic Disorders (4 papers) and Autism Spectrum Disorder Research (4 papers). The work is most often cited by research in Genetics (635 citations), Clinical Biochemistry (130 citations), Molecular Biology (744 citations), Genetics (106 citations) and Cancer Research (89 citations). Carol Saunders has collaborated with scholars based in United States, Italy and Canada. Frequent co-authors include Stephen F. Kingsmore, Emily Farrow, Neil Miller, Robert S. Cohen, Sarah Soden, Isabelle Thiffault, Laurie D. Smith, Darrell L. Dinwiddie, Weiwei Zhao and Lee Zellmer. Their work appears in journals such as Human Mutation, Frontiers in Immunology, Genetics in Medicine, Molecular Case Studies and Genomics.

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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