Kyle Retterer

8.3k citations

37 papers · 1.5k · h-index 24

Impact in

Genetics top 2%
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
Psychiatry and Mental health top 10%
- Epilepsy research and treatment

Papers in

Genetics 25
- Genomics and Rare Diseases 17
- Genetics and Neurodevelopmental Disorders 14
- Genomic variations and chromosomal abnormalities 10
Molecular Biology 12
- RNA regulation and disease 3
- Ubiquitin and proteasome pathways 2

Co-authors: Gabriele Richard (3 shared papers)Dianalee McKnight (5 shared papers)Elizabeth Butler (2 shared papers)Amanda Lindy (2 shared papers)Megan T. Cho (16 shared papers)Jane Juusola (8 shared papers)Julie Scuffins (7 shared papers)Wendy K. Chung (13 shared papers)
Journals: Genetics in Medicine (6 papers)Molecular Case Studies (6 papers)The American Journal of Human Genetics (5 papers)Neurogenetics (4 papers)Epilepsia (1 paper)
Partner nations: United States Canada Netherlands

In The Last Decade

Kyle Retterer

34 papers receiving 1.4k citations

Peers

Countries citing papers authored by Kyle Retterer

Since Specialization

Citations

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

Fields of papers citing papers by Kyle Retterer

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Kyle Retterer, 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 Kyle Retterer Line = papers co-authored together Kyle Retterer 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 37 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders Epilepsia ·Amanda Lindy, Mary Beth Stosser, Elizabeth Butler, Courtney Downtain‐Pickersgill, Anita Shanmugham, Kyle Retterer, Tracy Brandt, Gabriele Richard, Dianalee McKnight	2018	196
2	High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders Genetics in Medicine ·Mary Beth Stosser, Amanda Lindy, Elizabeth Butler, Kyle Retterer, Caitlin M. Piccirillo-Stosser, Gabriele Richard, Dianalee McKnight	2017	123
3	Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development Genetics in Medicine ·Carin Yates, Kristin G. Monaghan, Deborah Copenheaver, Kyle Retterer, Julie Scuffins, Cathlin R. Kucera, Bethany Friedman, Gabriele Richard, Jane Juusola	2017	119
4	Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders The American Journal of Human Genetics ·Tychele N. Turner, Amy B. Wilfert, Trygve E. Bakken, Raphael Bernier, Micah Pepper, Zhancheng Zhang, Rebecca I. Torene, Kyle Retterer, Evan E. Eichler	2019	89
5	Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort Genetics in Medicine ·Kyle Retterer, Julie Scuffins, Daniel Schmidt, Rachel Lewis, Daniel Pineda‐Alvarez, Amanda Stafford, Lindsay Schmidt, Stephanie Warren, Federica Gibellini, Anastasia Kondakova, A. D. Blair, Sherri J. Bale, Ludmila Matyakhina, Jeanne Meck, Swaroop Aradhya, Eden Haverfield	2014	89
6	Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy JAMA ·Andrés Moreno-De-Luca, Francisca Millan, Denis R. Pesacreta, Houda Zghal Elloumi, Matthew T. Oetjens, Claire Teigen, Karen E. Wain, Julie Scuffins, Scott M. Myers, Rebecca I. Torene, Vladimir G. Gainullin, Kevin J. Arvai, H. Lester Kirchner, David H. Ledbetter, Kyle Retterer, Christa Lese Martin	2021	77
7	De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism Neurogenetics ·Linshan Shang, Lindsay B. Henderson, Megan T. Cho, Donald Petrey, Chin-To Fong, Katrina Haude, Natasha Shur, Julie Lundberg, Natalie Hauser, Jason Carmichael, Jeffrey W. Innis, Jane L. Schuette, Yvonne W. Wu, Shailesh Asaikar, Margaret A. Pearson, Leandra Folk, Kyle Retterer, Kristin G. Monaghan, Wendy K. Chung	2015	56
8	De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features Human Genetics ·Volkan Okur, Megan T. Cho, Lindsay B. Henderson, Kyle Retterer, Michael Schneider, Shannon G. Sattler, Dmitriy Niyazov, Meron Azage, Sharon E. Smith, Jonathan Picker, Sharyn A. Lincoln, Mark A. Tarnopolsky, Lauren Brady, Hans T. Björnsson, Carolyn Applegate, Amy Dameron, Rebecca Willaert, Berivan Baskin, Jane Juusola, Wendy K. Chung	2016	55
9	De novo mutations in PURA are associated with hypotonia and developmental delay Molecular Case Studies ·Akemi Tanaka, Renkui Bai, Megan T. Cho, Kwame Anyane‐Yeboa, Priyanka Ahimaz, Ashley Wilson, Fran Kendall, Beverly N. Hay, Timothy J. M. Moss, Monica Nardini, Mislen Bauer, Kyle Retterer, Jane Juusola, Wendy K. Chung	2015	50
10	De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia Journal of Medical Genetics ·Esther R. Berko, Megan T. Cho, Christine M. Eng, Yunru Shao, David A. Sweetser, Jessica L. Waxler, Nathaniel H. Robin, Fallon Brewer, Sandra Donkervoort, Payam Mohassel, Carsten G. Bönnemann, Martin G. Bialer, Christine Moore, Lynne A. Wolfe, Cynthia J. Tifft, Yufeng Shen, Kyle Retterer, Francisca Millan, Wendy K. Chung	2016	45
11	Mutations in ARID2 are associated with intellectual disabilities Neurogenetics ·Linshan Shang, Megan T. Cho, Kyle Retterer, Leandra Folk, Jennifer B. Humberson, Luis Rohena, Alpa Sidhu, Sheila Saliganan, Alejandro Iglesias, Patrik Vitazka, Jane Juusola, Anne O’Donnell‐Luria, Yufeng Shen, Wendy K. Chung	2015	45
12	Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females The American Journal of Human Genetics ·Jennifer Bain, Megan T. Cho, Aida Telegrafi, Ashley Wilson, Susan Sklower Brooks, Christina Botti, Gordon C. Gowans, Leigh Anne Autullo, Vidya Krishnamurthy, Marcia Willing, Tomi L. Toler, Bruria Ben-Zev, Orly Elpeleg, Yufeng Shen, Kyle Retterer, Kristin G. Monaghan, Wendy K. Chung	2016	45
13	Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder American Journal of Medical Genetics Part A ·Francisca Millan, Megan T. Cho, Kyle Retterer, Kristin G. Monaghan, Renkui Bai, Patrik Vitazka, David B. Everman, Brooke Smith, Brad Angle, Victoria H. J. Roberts, LaDonna Immken, Honey Nagakura, Marc DiFazio, Elliott H. Sherr, Eden Haverfield, Bethany Friedman, Aida Telegrafi, Jane Juusola, Wendy K. Chung, Sherri J. Bale	2016	44
14	Mobile element insertion detection in 89,874 clinical exomes Genetics in Medicine ·Rebecca I. Torene, Kevin Galens, Shuxi Liu, Kevin J. Arvai, Carlos Borroto, Julie Scuffins, Zhancheng Zhang, Bethany Friedman, Hana Sroka, Jennifer Heeley, Erin Beaver, L. Clarke, Sarah Neil‐Sztramko, Jagdeep S. Walia, Danna Hull, Jane Juusola, Kyle Retterer	2020	44
15	De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features Molecular Case Studies ·Emily Webster, Megan T. Cho, Nora Alexander, Sonal Desai, Sakkubai Naidu, Mir Reza Bekheirnia, Andrea M. Lewis, Kyle Retterer, Jane Juusola, Wendy K. Chung	2016	43
16	De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly Molecular Case Studies ·Yizhou Ye, Megan T. Cho, Kyle Retterer, Nora Alexander, Tawfeg Ben‐Omran, Mariam Al‐Mureikhi, Ingrid Cristian, Patricia G. Wheeler, Carrie Crain, Dina J. Zand, Veronique Weinstein, Hilary J. Vernon, Rebecca McClellan, Vidya Krishnamurthy, Patrik Vitazka, Francisca Millan, Wendy K. Chung	2015	40
17	Uniparental disomy in a population of 32,067 clinical exome trios Genetics in Medicine ·Julie Scuffins, Jennifer Keller‐Ramey, Lindsay Dyer, Ganka Douglas, Rebecca I. Torene, Vladimir G. Gainullin, Jane Juusola, Jeanne Meck, Kyle Retterer	2021	39
18	Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects The American Journal of Human Genetics ·Lia Boyle, Mirjam M. C. Wamelink, Gajja S. Salomons, Birthe Roos, Ana Pop, Andrew Dauber, Vivian Hwa, Melissa Andrew, Jessica Douglas, Murray Feingold, Nancy Kramer, Sulagna C. Saitta, Kyle Retterer, Megan T. Cho, Amber Begtrup, Kristin G. Monaghan, Julia Wynn, Wendy K. Chung	2016	38
19	Further supporting evidence for the SATB2‐associated syndrome found through whole exome sequencing American Journal of Medical Genetics Part A ·Yuri A. Zárate, Hazel Perry, Tawfeg Ben‐Omran, Elizabeth A. Sellars, Quinn Stein, Mariam Al‐Mureikhi, Kirk A. Simmons, Ophir D. Klein, Jennifer L. Fish, Murray Feingold, Jessica Douglas, Michael C. Kruer, Yue Si, Rong Mao, Dianalee McKnight, Federica Gibellini, Kyle Retterer, Anne Slavotinek	2015	37
20	Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features Neurogenetics ·Hallie Steinfeld, Megan T. Cho, Kyle Retterer, Rick Person, G. Bradley Schaefer, Noelle R. Danylchuk, Saleem Malik, Stephanie Burns Wechsler, Patricia G. Wheeler, Koen L.I. van Gassen, Paulien A. Terhal, Virginie J. M. Verhoeven, Marjon A. van Slegtenhorst, Kristin G. Monaghan, Lindsay B. Henderson, Wendy K. Chung	2016	31

About Kyle Retterer

Kyle Retterer is a scholar working on Genetics, Molecular Biology, Oncology, Pediatrics, Perinatology and Child Health and Cognitive Neuroscience, having authored 37 papers that have together received 1.5k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (17 papers), Genetics and Neurodevelopmental Disorders (14 papers), Genomic variations and chromosomal abnormalities (10 papers), RNA regulation and disease (3 papers), Ubiquitin and proteasome pathways (2 papers), Metabolism and Genetic Disorders (2 papers), Autism Spectrum Disorder Research (2 papers) and Fetal and Pediatric Neurological Disorders (2 papers). The work is most often cited by research in Genetics (784 citations), Psychiatry and Mental health (150 citations), Molecular Biology (605 citations), Pediatrics, Perinatology and Child Health (148 citations) and Clinical Biochemistry (39 citations). Kyle Retterer has collaborated with scholars based in United States, Canada and Netherlands. Frequent co-authors include Gabriele Richard, Dianalee McKnight, Elizabeth Butler, Amanda Lindy, Megan T. Cho, Jane Juusola, Julie Scuffins, Wendy K. Chung, Rebecca I. Torene and Tracy Brandt. Their work appears in journals such as Genetics in Medicine, Molecular Case Studies, The American Journal of Human Genetics, Neurogenetics and Epilepsia.

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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Kyle Retterer

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