Kelly Schoch

6.3k total citations
48 papers, 1.5k citations indexed

About

Kelly Schoch is a scholar working on Molecular Biology, Genetics and Epidemiology. According to data from OpenAlex, Kelly Schoch has authored 48 papers receiving a total of 1.5k indexed citations (citations by other indexed papers that have themselves been cited), including 29 papers in Molecular Biology, 27 papers in Genetics and 16 papers in Epidemiology. Recurrent topics in Kelly Schoch's work include Congenital heart defects research (18 papers), Genomics and Rare Diseases (15 papers) and Congenital Heart Disease Studies (14 papers). Kelly Schoch is often cited by papers focused on Congenital heart defects research (18 papers), Genomics and Rare Diseases (15 papers) and Congenital Heart Disease Studies (14 papers). Kelly Schoch collaborates with scholars based in United States, Australia and Canada. Kelly Schoch's co-authors include Vandana Shashi, David B. Goldstein, Stephen R. Hooper, Marie McDonald, Anna C. Need, Allyn McConkie‐Rosell, Yong‐hui Jiang, Kevin V. Shianna, Yuki Hitomi and Miriam H. Meisler and has published in prestigious journals such as Proceedings of the National Academy of Sciences, Nature Communications and Biological Psychiatry.

In The Last Decade

Kelly Schoch

46 papers receiving 1.5k citations

Peers

Countries citing papers authored by Kelly Schoch

Since Specialization

Citations

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

Fields of papers citing papers by Kelly Schoch

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Kelly Schoch

This figure shows the co-authorship network connecting the top 25 collaborators of Kelly Schoch. A scholar is included among the top collaborators of Kelly Schoch 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 Kelly Schoch. Kelly Schoch 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	A second hotspot for pathogenic exon-skipping variants in CDC45 2024 ·European Journal of Human Genetics ·Kelly Schoch, (unknown), (unknown), (unknown), Sabine Uhrig, (unknown), Saskia Biskup, (unknown), Vincenzo Salpietro, Valeria Capra, (unknown), Chris M. Brown, Andrea Accogli, Vandana Shashi, Louise S. Bicknell	1
2	Substrate specificity controlled by the exit site of human P4-ATPases, revealed by de novo point mutations in neurological disorders 2024 ·Proceedings of the National Academy of Sciences ·David Calianese, Tomoyasu Noji, Jennifer A. Sullivan, Kelly Schoch, Vandana Shashi, (unknown), (unknown), Albena Jordanova, (unknown), Hiroshi Ishikita, Shigekazu Nagata	3
3	The best of both worlds: Blending cutting‐edge research with clinical processes for a productive exome clinic 2023 ·Clinical Genetics ·Jennifer A. Sullivan, Rebecca C. Spillmann, Kelly Schoch, Sophie Nicole, Anna Alkelai, Nicholas Stong, Patrick R. Shea, Slavé Petrovski, Vaidehi Jobanputra, Allyn McConkie‐Rosell, Vandana Shashi	0
4	Unraveling non‐participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors 2023 ·Journal of Genetic Counseling ·Allyn McConkie‐Rosell, Rebecca C. Spillmann, Kelly Schoch, Jennifer A. Sullivan, Sophie Nicole, Marie McDonald, (unknown), Stephen R. Hooper, Vandana Shashi	7
5	Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1 2023 ·Orphanet Journal of Rare Diseases ·Kelly Schoch, Allyn McConkie‐Rosell, Sophie Nicole, Vikas Bhambhani, Timothy Feyma, (unknown), Carolyn Pizoli, Edward C. Smith, Queenie K.‐G. Tan, Vandana Shashi	3
6	A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay 2022 ·Human Mutation ·Hongzheng Dai, Wenmiao Zhu, Bo Yuan, Sophie Nicole, Kelly Schoch, Yong‐hui Jiang, John A. Phillips, Melissa S. Jones, Pengfei Liu, David R. Murdock, Lindsay C. Burrage, Brendan Lee, Jill A. Rosenfeld, Rui Xiao, (unknown)	3
7	Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses 2020 ·Genetics in Medicine ·Kelly Schoch, Queenie K.‐G. Tan, Nicholas Stong, Kristen Deak, Allyn McConkie‐Rosell, Marie McDonald, David B. Goldstein, Yong‐Hui Jiang, Vandana Shashi	23
8	Characteristics of undiagnosed diseases network applicants: implications for referring providers 2018 ·BMC Health Services Research ·(unknown), Sophie Nicole, Loren Peña, Stephen R. Hooper, Heidi Cope, Yong‐Hui Jiang, Allyn McConkie‐Rosell, (unknown), Kelly Schoch, Rebecca C. Spillmann, Kimberly A. Strong, Alexa T. McCray, Paul Mazur, Cecilia Esteves, Kimberly LeBlanc, Anastasia L. Wise, Vandana Shashi	23
9	ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis 2018 ·Genetics in Medicine ·Cole A. Deisseroth, Johannes Birgmeier, Ethan E. Bodle, Jennefer N. Kohler, Dena R. Matalon, (unknown), Casie A. Genetti, Donna M. Brown, Klaus Schmitz‐Abe, Kelly Schoch, Heidi Cope, Rebecca Signer, Julián A. Martínez-Agosto, Vandana Shashi, Alan H. Beggs, Matthew T. Wheeler, Jonathan A. Bernstein, Gill Bejerano	62
10	Annotating pathogenic non-coding variants in genic regions 2017 ·Nature Communications ·Sahar Gelfman, Quanli Wang, K. Melodi McSweeney, Zhong Ren, Francesca La Carpia, Matthew Halvorsen, Kelly Schoch, (unknown), Erin L. Heinzen, Michael J. Boland, Slavé Petrovski, David B. Goldstein	99
11	A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network 2017 ·Orphanet Journal of Rare Diseases ·(unknown), Rebecca C. Spillmann, Allyn McConkie‐Rosell, Loren Peña, Yong‐Hui Jiang, Kelly Schoch, Sophie Nicole, (unknown), Jennifer A. Sullivan, Stephen R. Hooper, Vandana Shashi	60
12	Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing 2015 ·Molecular Case Studies ·Vandana Shashi, Slavé Petrovski, Kelly Schoch, (unknown), Laura E. Case, (unknown), (unknown), Yong‐hui Jiang, Mohamad A. Mikati, David B. Goldstein	10
13	Feasibility and preliminary efficacy data from a computerized cognitive intervention in children with chromosome 22q11.2 deletion syndrome 2013 ·Research in Developmental Disabilities ·(unknown), Shaun M. Eack, Stephen R. Hooper, Matcheri S. Keshavan, Melanie Bonner, Kelly Schoch, Vandana Shashi	18
14	The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders 2013 ·Genetics in Medicine ·Vandana Shashi, Allyn McConkie‐Rosell, (unknown), Kelly Schoch, (unknown), Marie McDonald, Yong‐hui Jiang, Pingxing Xie, Anna C. Need, David B. Goldstein	190
15	A longitudinal examination of the psychoeducational, neurocognitive, and psychiatric functioning in children with 22q11.2 deletion syndrome 2013 ·Research in Developmental Disabilities ·Stephen R. Hooper, Kathleen Curtiss, Kelly Schoch, Matcheri S. Keshavan, Andrew S. Allen, Vandana Shashi	46
16	Clinical application of exome sequencing in undiagnosed genetic conditions 2012 ·Journal of Medical Genetics ·Anna C. Need, Vandana Shashi, Yuki Hitomi, Kelly Schoch, Kevin V. Shianna, Marie McDonald, Miriam H. Meisler, David B. Goldstein	289
17	Discordance in diagnoses and treatment of psychiatric disorders in children and adolescents with 22q11.2 deletion syndrome 2011 ·Asian Journal of Psychiatry ·Andrea S. Young, Vandana Shashi, Kelly Schoch, Thomas R. Kwapil, Stephen R. Hooper	23
18	Chromosome 22q11.2 deletion syndrome in African‐American patients: A diagnostic challenge 2011 ·American Journal of Medical Genetics Part A ·Aravindhan Veerapandiyan, Omar Abdul‐Rahman, Margaret P Adam, Michael J. Lyons, Melanie Manning, Karlene Coleman, Lisa Kobrynski, (unknown), Kelly Schoch, Holly H. Zimmerman, Vandana Shashi	18
19	Pseudometabolic presentation of dystrophinopathy due to a missense mutation 2010 ·Muscle & Nerve ·Aravindhan Veerapandiyan, Vandana Shashi, Yong‐hui Jiang, William B. Gallentine, Kelly Schoch, Edward C. Smith	20
20	Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation 2010 ·European Journal of Medical Genetics ·Aravindhan Veerapandiyan, Iván K. Chinn, Kelly Schoch, Kristin A. Maloney, Vandana Shashi	2

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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