Kira A. Dies

3.8k citations

26 papers · 1.2k indexed · 1 hit paper · h-index 15

Genetics top 5%
- Genomics and Rare Diseases 6
- Genomic variations and chromosomal abnormalities 5
- Genetics and Neurodevelopmental Disorders 5
Physiology top 5%
- Tuberous Sclerosis Complex Research 9
- Histiocytic Disorders and Treatments 2
Cognitive Neuroscience top 10%
- Autism Spectrum Disorder Research 3
Biological Psychiatry
Oncology
- Polyomavirus and related diseases 5
Molecular Biology
- PI3K/AKT/mTOR signaling in cancer 5

Co-authors: Mustafa Şahin Siddharth Srivastava Thomas Frazier Wendy K. Chung David T. Miller Stephen W. Scherer Han G. Brunner Jamie Love‐Nichols
Cited by: Genetics Physiology Cognitive Neuroscience
Journals: Neurology (1 paper)Human Molecular Genetics (1 paper)PLoS Genetics (1 paper)
Partner nations: United States United Kingdom Netherlands

In The Last Decade

Kira A. Dies

26 papers receiving 1.2k citations

Hit Papers

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Peers

Countries citing papers authored by Kira A. Dies

Since Specialization

Citations

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

Fields of papers citing papers by Kira A. Dies

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Kira A. Dies. 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 Kira A. Dies. The network helps show where Kira A. Dies may publish in the future.

Co-authorship network

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

All Works

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20 of 20 papers shown

#	Work
1	Novel Phenotypes and Genotype–Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome Clinical Genetics ·Zoë J. Frazier,Seyda Kilic,Hailey Osika,Alisa Mo,Maryanne Quinn,Sonia Ballal,Tamar Katz,A. Eliot Shearer,Max A. Horlbeck,Lynn Pais,Kira A. Dies,Anne O’Donnell‐Luria,Joe Kossowsky,Jonathan O. Lipton,Tjitske Kleefstra,Siddharth Srivastava	2025	1
2	Toward representative genomic research: the children’s rare disease cohorts experience PubMed ·Zoë J. Frazier,Eurnestine Brown,Shira Rockowitz,Ted Lee,Bo Zhang,Abigail Sveden,Nancy L. Chamberlin,Kira A. Dies,Annapurna Poduri,Piotr Sliz,Maya Chopra	2023	3
3	Emerging roles and opportunities for rare disease patient advocacy groups PubMed ·Amy M. Patterson,Megan O’Boyle,Grace E. VanNoy,Kira A. Dies	2023	28
4	A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome Human Molecular Genetics ·Siddharth Srivastava,Booil Jo,Bo Zhang,Thomas Frazier,Anne Gallagher,Fleming Peck,April R. Levin,Sangeeta Mondal,Zetan Li,Rajna Filip‐Dhima,Gregory Geisel,Kira A. Dies,Amelia Diplock,Charis Eng,Rabi Hanna,Mustafa Şahin,Antonio Y. Hardan,Julián A. Martínez-Agosto	2022	15
5	GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy Molecular Therapy — Methods & Clinical Development ·Maya Chopra,Meera E. Modi,Kira A. Dies,Nancy L. Chamberlin,Elizabeth D. Buttermore,Stephanie J. Brewster,Lisa Albers Prock,Mustafa Şahin	2022	5
6	Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers Journal of Neurodevelopmental Disorders ·Cartik R. Kothari,Siddharth Srivastava,Youssef A. Kousa,Rima Izem,Marcin Gierdalski,Dong‐Kyu Kim,Amy B. Good,Kira A. Dies,Gregory Geisel,Hiroki Morizono,Vittorio Gallo,Scott L. Pomeroy,Gwenn A. Garden,Lisa M. Guay‐Woodford,Mustafa Şahin,Paul Avillach	2022	3
7	A randomized double-blind controlled trial of everolimus in individuals with PTEN mutations: Study design and statistical considerations Contemporary Clinical Trials Communications ·Antonio Y. Hardan,Booil Jo,Thomas Frazier,Patricia Klaas,Robyn M. Busch,Kira A. Dies,Rajna Filip‐Dhima,Anne Snow,Charis Eng,Rabi Hanna,Bo Zhang,Mustafa Şahin	2021	11
8	Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome Journal of Neurodevelopmental Disorders ·Siddharth Srivastava,Emma Condy,Erin Carmody,Rajna Filip‐Dhima,Kush Kapur,Jonathan A. Bernstein,Elizabeth Berry‐Kravis,Craig M. Powell,Latha Soorya,Audrey Thurm,Joseph D. Buxbaum,Mustafa Şahin,Alexander Kolevzon,Elizabeth Berry Kravis,Simon K. Warfield,Kira A. Dies,Paige M. Siper,Ellen Hanson,Jennifer M. Phillips	2021	7
9	Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism Molecular Autism ·Thomas Frazier,Ritika Jaini,Robyn M. Busch,Matthew Wolf,Tammy Sadler,Patricia Klaas,Antonio Y. Hardan,Julián A. Martínez-Agosto,Mustafa Şahin,Charis Eng,Simon K. Warfield,Benoît Scherrer,Kira A. Dies,Rajna Filip‐Dhima,Amanda C. Gulsrud,Ellen Hanson,Jennifer M. Phillips	2021	8
10	Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission Genetics in Medicine ·Krinio Giannikou,Kathryn D. Lasseter,Joannes M. Grevelink,Magdalena E. Tyburczy,Kira A. Dies,Zachary Zhu,Lana Hamieh,Bruce M. Wollison,Aaron R. Thorner,Stephen J. Ruoss,Elizabeth A. Thiele,Mustafa Şahin,David J. Kwiatkowski	2019	35
11	Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disordersbreakdown → Genetics in Medicine ·Siddharth Srivastava,Jamie Love‐Nichols,Kira A. Dies,David H. Ledbetter,Christa Lese Martin,Wendy K. Chung,Helen V. Firth,Thomas Frazier,Robin Hansen,Lisa M. Prock,Han G. Brunner,Ny Hoang,Stephen W. Scherer,Mustafa Şahin,David T. Miller	2019	367
12	Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN Translational Psychiatry ·Robyn M. Busch,Siddharth Srivastava,Olivia Hogue,Thomas Frazier,Patricia Klaas,Antonio Y. Hardan,Julián A. Martínez-Agosto,Mustafa Şahin,Charis Eng,Simon K. Warfield,Benoît Scherrer,Kira A. Dies,Rajna Filip‐Dhima,Amanda C. Gulsrud,Ellen Hanson,Jennifer M. Phillips	2019	74
13	Effect of Angiofibromas on Quality of Life and Access to Care in Tuberous Sclerosis Patients and Their Caregivers Pediatric Dermatology ·Cary Crall,Molly Valle,Kush Kapur,Kira A. Dies,Marilyn G. Liang,Mustafa Şahin,Jennifer T. Huang	2016	14
14	Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing PLoS Genetics ·Magdalena E. Tyburczy,Kira A. Dies,Jennifer Glass,Susana Camposano,Yvonne Chekaluk,Aaron R. Thorner,Ling Lin,Darcy A. Krueger,David Neal Franz,Elizabeth A. Thiele,Mustafa Şahin,David J. Kwiatkowski	2015	195
15	A Magnetic Resonance Imaging Study of Cerebellar Volume in Tuberous Sclerosis Complex Pediatric Neurology ·Neil Weisenfeld,Jurriaan M. Peters,Peter T. Tsai,Sanjay P. Prabhu,Kira A. Dies,Mustafa Şahin,Simon K. Warfield	2013	26
16	Micro-duplications of 1q32.1 associated with neurodevelopmental delay European Journal of Medical Genetics ·Heather E. Olson,Yiping Shen,Annapurna Poduri,Mark Gorman,Kira A. Dies,Michael Robbins,Rachel J. Hundley,Bingbing Wu,Mustafa Şahin	2012	13
17	Functional Assessment ofTSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex Human Mutation ·Marianne Hoogeveen‐Westerveld,Rosemary Ekong,(unknown),Karin Mayer,N. Lannoy,Frances Elmslie,(unknown),Kira A. Dies,Carl Thompson,Steven Sparagana,Peter Davies,Agnies M. van Eeghen,Dicky Halley,Mark Nellist	2012	53
18	Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex Human Mutation ·Marianne Hoogeveen‐Westerveld,Rosemary Ekong,Sue Povey,Izabela Karbassi,Sat Dev Batish,Johan T. den Dunnen,Agnies M. van Eeghen,Elizabeth A. Thiele,Karin Mayer,Kira A. Dies,Wen Li,Catherine Thompson,Steven Sparagana,Peter Maxwell Davies,Cora M. Aalfs,Ans van den Ouweland,Dicky Halley,Mark Nellist	2011	34
19	Gestational immune activation and Tsc2 haploinsufficiency cooperate to disrupt fetal survival and may perturb social behavior in adult mice Molecular Psychiatry ·Dan Ehninger,Yoshitake Sano,Petrus J. de Vries,Kira A. Dies,David Neal Franz,Dan Geschwind,M Kaur,Yong‐Seok Lee,Weidong Li,Jennifer K. Lowe,Jo Anne Nakagawa,Mustafa Şahin,Kirby D. Smith,Vicky Whittemore,Alcino J. Silva	2010	85
20	The syndrome of perisylvian polymicrogyria with congenital arthrogryposis Brain and Development ·Annapurna Poduri,Vida Chitsazzadeh,Stefano D’Arrigo,Ermellina Fedrizzi,Chiara Pantaleoni,Daria Riva,Claudia Busse,Helmut Küster,Adre duPlessis,John Gaitanis,Mustafa Şahin,Cheryl Garganta,Meral Topçu,Kira A. Dies,Brenda J. Barry,Jennifer N. Partlow,A. James Barkovich,Christopher A. Walsh,Bernard S. Chang	2009	13

About Kira A. Dies

Kira A. Dies is a scholar working on Developmental Biology, Genetics and Physiology, having authored 26 papers that have together received 1.2k indexed citations. Recurring topics across this work include Tuberous Sclerosis Complex Research (9 papers), Genomics and Rare Diseases (6 papers), Genomic variations and chromosomal abnormalities (5 papers), PI3K/AKT/mTOR signaling in cancer (5 papers), Polyomavirus and related diseases (5 papers), Genetics and Neurodevelopmental Disorders (5 papers), Autism Spectrum Disorder Research (3 papers) and Histiocytic Disorders and Treatments (2 papers). The work is most often cited by research in Genetics (553 citations), Physiology (392 citations) and Cognitive Neuroscience (228 citations). Kira A. Dies has collaborated with scholars based in United States, United Kingdom and Netherlands. Frequent co-authors include Mustafa Şahin, Siddharth Srivastava, Thomas Frazier, Wendy K. Chung, David T. Miller, Stephen W. Scherer, Han G. Brunner, Jamie Love‐Nichols, Christa Lese Martin and Robin Hansen. Their work appears in journals such as Neurology, Human Molecular Genetics and PLoS Genetics.

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