Kira A. Dies

3.8k citations

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

Co-authors: Mustafa Şahin Siddharth Srivastava Thomas Frazier Wendy K. Chung David T. Miller Stephen W. Scherer Han G. Brunner Jamie Love‐Nichols
Topics: Tuberous Sclerosis Complex Research (9 papers)Genomics and Rare Diseases (6 papers)Genomic variations and chromosomal abnormalities (5 papers)
Cited by: Genetics Physiology Cognitive Neuroscience
Journals: Neurology Human Molecular Genetics PLoS Genetics
Partner nations: United States United Kingdom Netherlands

In The Last Decade

Kira A. Dies

26 papers receiving 1.2k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

2019 367 citations Siddharth Srivastava, Jamie Love‐Nichols et al. Genetics in Medicine profile →

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 of co-authors of Kira A. Dies

This figure shows the co-authorship network connecting the top 25 collaborators of Kira A. Dies. A scholar is included among the top collaborators of Kira A. Dies 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 Kira A. Dies. Kira A. Dies 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	Novel Phenotypes and Genotype–Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome 2025 ·Clinical Genetics ·(unknown),(unknown),(unknown),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	1
2	Toward representative genomic research: the children’s rare disease cohorts experience 2023 ·PubMed ·(unknown),(unknown),Shira Rockowitz,Ted Lee,Bo Zhang,Abigail Sveden,Nancy L. Chamberlin,Kira A. Dies,Annapurna Poduri,Piotr Sliz,Maya Chopra	3
3	Emerging roles and opportunities for rare disease patient advocacy groups 2023 ·PubMed ·(unknown),(unknown),Grace E. VanNoy,Kira A. Dies	28
4	A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome 2022 ·Human Molecular Genetics ·Siddharth Srivastava,Booil Jo,Bo Zhang,Thomas Frazier,Anne Gallagher,(unknown),April R. Levin,(unknown),(unknown),Rajna Filip‐Dhima,(unknown),Kira A. Dies,(unknown),Charis Eng,Rabi Hanna,Mustafa Şahin,Antonio Y. Hardan,Julián A. Martínez-Agosto	15
5	GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy 2022 ·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	5
6	Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers 2022 ·Journal of Neurodevelopmental Disorders ·Cartik R. Kothari,Siddharth Srivastava,Youssef A. Kousa,Rima Izem,Marcin Gierdalski,Dong‐Kyu Kim,(unknown),Kira A. Dies,(unknown),Hiroki Morizono,Vittorio Gallo,Scott L. Pomeroy,Gwenn A. Garden,Lisa M. Guay‐Woodford,Mustafa Şahin,Paul Avillach	3
7	A randomized double-blind controlled trial of everolimus in individuals with PTEN mutations: Study design and statistical considerations 2021 ·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	11
8	Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome 2021 ·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,(unknown),Simon K. Warfield,Kira A. Dies,Paige M. Siper,Ellen Hanson,Jennifer M. Phillips	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 2021 ·Molecular Autism ·Thomas Frazier,Ritika Jaini,Robyn M. Busch,(unknown),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	8
10	Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission 2019 ·Genetics in Medicine ·Krinio Giannikou,(unknown),(unknown),Magdalena E. Tyburczy,Kira A. Dies,(unknown),Lana Hamieh,Bruce M. Wollison,Aaron R. Thorner,Stephen J. Ruoss,Elizabeth A. Thiele,Mustafa Şahin,David J. Kwiatkowski	35
11	Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disordersbreakdown → 2019 ·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	367
12	Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN 2019 ·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	74
13	Effect of Angiofibromas on Quality of Life and Access to Care in Tuberous Sclerosis Patients and Their Caregivers 2016 ·Pediatric Dermatology ·(unknown),(unknown),Kush Kapur,Kira A. Dies,Marilyn G. Liang,Mustafa Şahin,Jennifer T. Huang	14
14	Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing 2015 ·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	195
15	A Magnetic Resonance Imaging Study of Cerebellar Volume in Tuberous Sclerosis Complex 2013 ·Pediatric Neurology ·Neil Weisenfeld,Jurriaan M. Peters,Peter T. Tsai,Sanjay P. Prabhu,Kira A. Dies,Mustafa Şahin,Simon K. Warfield	26
16	Micro-duplications of 1q32.1 associated with neurodevelopmental delay 2012 ·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	13
17	Functional Assessment ofTSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex 2012 ·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	53
18	Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex 2011 ·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	34
19	Gestational immune activation and Tsc2 haploinsufficiency cooperate to disrupt fetal survival and may perturb social behavior in adult mice 2010 ·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	85
20	The syndrome of perisylvian polymicrogyria with congenital arthrogryposis 2009 ·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	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) and Genomic variations and chromosomal abnormalities (5 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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