Kyle Retterer

8.0k citations

37 papers · 1.4k indexed · h-index 24

Genetics top 2%
Molecular Biology
Psychiatry and Mental health top 5%
Pediatrics, Perinatology and Child Health top 5%
Cognitive Neuroscience

Co-authors: Gabriele Richard Dianalee McKnight Amanda Lindy Elizabeth Butler Megan T. Cho Wendy K. Chung Jane Juusola Julie Scuffins
Topics: Genomics and Rare Diseases (20 papers)Genetics and Neurodevelopmental Disorders (17 papers)Genomic variations and chromosomal abnormalities (13 papers)
Cited by: Genetics Psychiatry and Mental health Molecular Biology
Journals: JAMA Neurology Journal of the American Society of Nephrology
Partner nations: United States Canada Qatar

In The Last Decade

Kyle Retterer

33 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-authorship network of co-authors of Kyle Retterer

This figure shows the co-authorship network connecting the top 25 collaborators of Kyle Retterer. A scholar is included among the top collaborators of Kyle Retterer 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 Kyle Retterer. Kyle Retterer 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	Clinical Manifestations of VEXAS Syndrome Across a Broad Spectrum of UBA1 Mutation Burden 2025 ·Arthritis & Rheumatology ·(unknown),(unknown),Ashley Richardson,Jung Kim,Rebecca I. Torene,Maria Sirenko,Jeremy S. Haley,Adam Cook,(unknown),James Dove,Kyle Retterer,(unknown),David J. Carey,Samira Asgari,Douglas R. Stewart,David B. Beck	1
2	Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing 2025 ·Genetics in Medicine ·(unknown),Matthew T. Oetjens,Alexander S. F. Berry,(unknown),Andrés Moreno-De-Luca,Rebecca I. Torene,Natasha T. Strande,Marina T. DiStefano,(unknown),Tracy Brandt,Brenda Finucane,David H. Ledbetter,Kyle Retterer,Christa Lese Martin,Scott M. Myers	2
3	Using Large Genomic Biobanks to Generate Insights into Genetic Kidney Disease 2025 ·Seminars in Nephrology ·Alex R. Chang,Janewit Wongboonsin,Andrew J. Mallett,Ana Morales,Kyle Retterer,Tooraj Mirshahi,John A. Sayer	0
4	A scalable approach for genomic-first rare disorder detection in a healthcare-based population 2025 ·The American Journal of Human Genetics ·Rebecca I. Torene,(unknown),Tracy Brandt,Melissa Kelly,Huntington F. Willard,Kyle Retterer	0
5	Genotype-First Analysis in an Unselected Health System–Based Population and Phenotypic Severity of COL4A5 Variants 2024 ·Journal of the American Society of Nephrology ·(unknown),Kaushal Solanki,Melissa Kelly,Karyn Meltz Steinberg,Kyle Retterer,H. Lester Kirchner,Ion D. Bucaloiu,Bryn S. Moore,Tooraj Mirshahi,Alex R. Chang	2
6	Mobile element insertion detection in 89,874 clinical exomes 2020 ·Genetics in Medicine ·Rebecca I. Torene,Kevin Galens,Shuxi Liu,Kevin J. Arvai,Carlos Borroto,Julie Scuffins,Zhancheng Zhang,Bethany Friedman,(unknown),Jennifer Heeley,(unknown),L. Clarke,Sarah Neil‐Sztramko,Jagdeep S. Walia,(unknown),Jane Juusola,Kyle Retterer	39
7	A Comprehensive and Dynamic Approach for Genetic Testing for Patient with Leukodystrophy Demonstrates a Genetic Etiology in 33% of Cases (P4.6-054) 2019 ·Neurology ·Fanggeng Zou,(unknown),(unknown),(unknown),Kyle Retterer,Julie Scuffins,Dianalee McKnight	0
8	Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders 2019 ·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	87
9	Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders 2018 ·Epilepsia ·Amanda Lindy,(unknown),Elizabeth Butler,(unknown),Anita Shanmugham,Kyle Retterer,Tracy Brandt,Gabriele Richard,Dianalee McKnight	190
10	De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism 2017 ·Molecular Case Studies ·Akemi Tanaka,Megan T. Cho,Rebecca Willaert,Kyle Retterer,Yuri A. Zárate,(unknown),(unknown),Kimihiko Oishi,Amy Williamson,Golder N. Wilson,Alice Basinger,(unknown),(unknown),(unknown),(unknown),Ilse J. Anderson,María J. Guillen Sacoto,Rhonda E. Schnur,Wendy K. Chung	23
11	A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects 2016 ·Neurogenetics ·David B. Beck,Megan T. Cho,Francisca Millan,(unknown),Mark Hannibal,Bridget O’Connor,Marwan Shinawi,Anne M. Connolly,Darrel Waggoner,Sara Halbach,Brad Angle,(unknown),Yufeng Shen,Kyle Retterer,Amber Begtrup,Renkui Bai,Wendy K. Chung	25
12	De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features 2016 ·Human Genetics ·Volkan Okur,Megan T. Cho,Lindsay B. Henderson,Kyle Retterer,Michael Schneider,(unknown),Dmitriy Niyazov,Meron Azage,Sharon E. Smith,Jonathan Picker,Sharyn A. Lincoln,Mark A. Tarnopolsky,Lauren Brady,Hans T. Björnsson,Carolyn Applegate,(unknown),Rebecca Willaert,Berivan Baskin,Jane Juusola,Wendy K. Chung	53
13	Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects 2016 ·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	33
14	Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder 2016 ·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,(unknown),Marc DiFazio,Elliott H. Sherr,Eden Haverfield,Bethany Friedman,Aida Telegrafi,Jane Juusola,Wendy K. Chung,Sherri J. Bale	42
15	Further supporting evidence for the SATB2‐associated syndrome found through whole exome sequencing 2015 ·American Journal of Medical Genetics Part A ·Yuri A. Zárate,Hazel Perry,Tawfeg Ben‐Omran,Elizabeth A. Sellars,Quinn Stein,Mariam Al‐Mureikhi,(unknown),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	37
16	De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features 2015 ·Molecular Case Studies ·Akemi Tanaka,Megan T. Cho,Kyle Retterer,Julie R. Jones,C. Nowak,Jessica Douglas,Yong‐hui Jiang,Allyn McConkie‐Rosell,G. Bradley Schaefer,Julie Kaylor,(unknown),Aida Telegrafi,Bethany Friedman,Ganka Douglas,Kristin G. Monaghan,Wendy K. Chung	25
17	De novo mutations in PURA are associated with hypotonia and developmental delay 2015 ·Molecular Case Studies ·Akemi Tanaka,Renkui Bai,Megan T. Cho,Kwame Anyane‐Yeboa,Priyanka Ahimaz,Ashley Wilson,(unknown),Beverly N. Hay,Timothy J. M. Moss,(unknown),Mislen Bauer,Kyle Retterer,Jane Juusola,Wendy K. Chung	49
18	De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism 2015 ·Neurogenetics ·Linshan Shang,Lindsay B. Henderson,Megan T. Cho,Donald Petrey,Chin-To Fong,Katrina Haude,Natasha Shur,(unknown),Natalie Hauser,Jason Carmichael,Jeffrey W. Innis,Jane L. Schuette,Yvonne W. Wu,(unknown),Margaret A. Pearson,(unknown),Kyle Retterer,Kristin G. Monaghan,Wendy K. Chung	52
19	De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly 2015 ·Molecular Case Studies ·Yizhou Ye,Megan T. Cho,Kyle Retterer,Nora Alexander,Tawfeg Ben‐Omran,Mariam Al‐Mureikhi,Ingrid Cristian,Patricia G. Wheeler,(unknown),Dina J. Zand,(unknown),Hilary J. Vernon,Rebecca McClellan,(unknown),Patrik Vitazka,Francisca Millan,Wendy K. Chung	39
20	Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort 2014 ·Genetics in Medicine ·Kyle Retterer,Julie Scuffins,Daniel Schmidt,Rachel Lewis,Daniel Pineda‐Alvarez,Amanda Stafford,Lindsay Schmidt,(unknown),Federica Gibellini,(unknown),A. D. Blair,Sherri J. Bale,Ludmila Matyakhina,Jeanne Meck,Swaroop Aradhya,Eden Haverfield	86

About Kyle Retterer

Kyle Retterer is a scholar working on Genetics, Developmental Biology and Clinical Biochemistry, having authored 37 papers that have together received 1.4k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (20 papers), Genetics and Neurodevelopmental Disorders (17 papers) and Genomic variations and chromosomal abnormalities (13 papers). The work is most often cited by research in Genetics (906 citations), Psychiatry and Mental health (193 citations) and Molecular Biology (681 citations). Kyle Retterer has collaborated with scholars based in United States, Canada and Qatar. Frequent co-authors include Gabriele Richard, Dianalee McKnight, Amanda Lindy, Elizabeth Butler, Megan T. Cho, Wendy K. Chung, Jane Juusola, Julie Scuffins, Rebecca I. Torene and Tracy Brandt. Their work appears in journals such as JAMA, Neurology and Journal of the American Society of Nephrology.

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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