Pınar Bayrak‐Toydemir

Also affiliated with University of Utah, ARUP Laboratories (United States), University Pathologists, ARUP Laboratories (United States)

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 30 papers. Top paper: “De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation”.

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.02.016

N/A

0.639DataRank · unranked

70 citations

Chloe Reuter, Maura Ruzhnikov, Anita E. Beck, Emily Farrow, Lisa Emrick +91 more

De novo variants in DENND5B cause a neurodevelopmental disorder

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.02.001

N/A

0.345DataRank · unranked

9 citations

Valeria Tomati, Matteo P. Ferla, Mariateresa Lena, Julie S. Cohen, Ali Fatemi +94 more

Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia

Molecular Genetics & Genomic Medicine(2022)10.1002/mgg3.1888

N/A

0.345DataRank · unranked

9 citations

Najla Al‐Sweel, Andrew Farrell, Rong Mao, Pınar Bayrak‐Toydemir, Christine E. Miller +22 more

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Genome Medicine(2024)10.1186/s13073-024-01339-y

N/A

0.292DataRank · unranked

6 citations

Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco +49 more

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

Orphanet Journal of Rare Diseases(2023)10.1186/s13023-022-02598-x

N/A

0.292DataRank · unranked

6 citations

Beverly M. Yashar, Undiagnosed Disease Network, Maria T. Acosta, Margaret P Adam, David R. Adams +95 more

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Nature Communications(2025)10.1038/s41467-025-61712-2

N/A

0.269DataRank · unranked

5 citations

Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum +95 more

Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon‐level Array, and RNA sequencing

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63516

N/A

0.208DataRank · unranked

3 citations

Nicola Longo, Robert G. Lewis, Thomas J. Nicholas, Steven E. Boyden, Ashley Andrews +6 more

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

Genetics in Medicine(2022)10.1016/j.gim.2022.12.001

N/A

0.170DataRank · unranked

1 citations

Queenie K.‐G. Tan, Chloe Reuter, Kelly Schoch, Jennefer N. Kohler, Devon Bonner +94 more

A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

Genetics in Medicine(2022)10.1016/j.gim.2022.03.014

N/A

0DataRank · unranked

16 citations

Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Johanna Hörberg +95 more

Rapid genome sequencing identifies a novel de novoSNAP25variant for neonatal congenital myasthenic syndrome

Molecular Case Studies(2022)10.1101/mcs.a006242

N/A

0DataRank · unranked

15 citations

Ting Wen, Andrew Farrell, Rong Mao, Barry Moore, Steven E. Boyden +14 more

Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.02.28.482323

N/A

0DataRank · unranked

0 citations

Brent S. Pedersen, Pınar Bayrak‐Toydemir, Aaron R. Quinlan, Michael J. Cormier

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group

Genetics in Medicine(2023)10.1016/j.gim.2023.101036

N/A

0DataRank · unranked

70 citations

Marcie Steeves, Pınar Bayrak‐Toydemir, Katherine A. Benson, Bradley P. Coe, Laura K. Conlin +42 more

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.012

N/A

0DataRank · unranked

38 citations

Erica L. Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz‐Rogers +95 more

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

The Journal of Pediatrics(2023)10.1016/j.jpeds.2023.113537

N/A

0DataRank · unranked

7 citations

Jennifer L. Young, Charis Tang, Kevin Mintz, Sawyer Lucas-Griffin, AudreyStephannie Maghiro +95 more

De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

Genetics in Medicine(2023)10.1016/j.gim.2023.100833

N/A

0DataRank · unranked

6 citations

Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia J. Tifft, Ellen F. Macnamara +95 more

The Shunt of It

CHEST Journal(2023)10.1016/j.chest.2023.01.020

N/A

0DataRank · unranked

5 citations

Jamie McDonald, Pınar Bayrak‐Toydemir, C. Gregory Elliott, Barbara C. Cahill, Lyska L. Emerson +2 more

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans

The Journal of Experimental Medicine(2024)10.1084/jem.20232005

N/A

0DataRank · unranked

37 citations

Julian A. Yano, John Huizar, Leianna C. Slayden, Madeleine A. Weiss, Elizabeth A Turcotte +93 more

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2023.12.004

N/A

0DataRank · unranked

14 citations

Sydney L. Michener, Hongling Pan, Hiuling Chan, Jessica M. Pfliger, Jill A. Rosenfeld +95 more

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

medRxiv(2024)10.1101/2024.01.14.24301100

N/A

0DataRank · unranked

1 citations

Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco +47 more

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

BMC Genomics(2024)10.1186/s12864-023-09935-9

N/A

0DataRank · unranked

0 citations

Camilo Toro, David R. Adams, Undiagnosed Diseases Network, Maria T. Acosta, Margaret P Adam +95 more

Identification of 2 novel noncoding variants in patients with Diamond-Blackfan anemia syndrome by whole genome sequencing

Blood Advances(2025)10.1182/bloodadvances.2024015347

N/A

0DataRank · unranked

3 citations

Steven E. Boyden, Caleb M. Hocutt, Robert G. Lewis, Erin E. Baldwin, Jennie Vagher +9 more

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64108

N/A

0DataRank · unranked

0 citations

Jian Zhao, Steven E. Boyden, Rong Mao, Pınar Bayrak‐Toydemir, A. Pflaum +9 more

From Expert Knowledge to Validation Resources

Journal of Molecular Diagnostics(2025)10.1016/j.jmoldx.2025.07.006

N/A

0DataRank · unranked

0 citations

Martine Tremblay, Edward R. Lockhart, Swaroop Aradhya, Pınar Bayrak‐Toydemir, Mark Bowser +12 more

Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing

Journal of Molecular Diagnostics(2020)10.1016/j.jmoldx.2020.10.011

N/A

0DataRank · unranked

9 citations

Pınar Bayrak‐Toydemir, Ty C. Lynnes, Rong Mao, James D. Metcalf, Kasinathan Muralidharan +9 more

Elevated Leukodystrophy Incidence Predicted From Genomics Databases

Pediatric Neurology(2020)10.1016/j.pediatrneurol.2020.06.005

N/A

0DataRank · unranked

32 citations

Alexander Chapin, Pınar Bayrak‐Toydemir, Joshua L. Bonkowsky, Haille E. Soderholm

ACMG clinical laboratory standards for next-generation sequencing

UNC Libraries(2020)10.17615/bgw9-dv56

N/A

0DataRank · unranked

0 citations

Heidi L. Rehm, Birgit Funke, Madhuri Hegde, Kerry K. Brown, Elaine Lyon +5 more

Effective variant filtering and expected candidate variant yield in studies of rare human disease

npj Genomic Medicine(2021)10.1038/s41525-021-00227-3

N/A

0DataRank · unranked

132 citations

Joe Brown, Harriet Dashnow, Amelia D. Wallace, Matt Velinder, Martin Tristani‐Firouzi +7 more

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Genetics in Medicine(2021)10.1038/s41436-020-01084-8

N/A

0DataRank · unranked

34 citations

Dustin Baldridge, Matt Velinder, Joel B. Krier, Kimberly LeBlanc, Cecilia Esteves +90 more

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Genetics in Medicine(2021)10.1038/s41436-021-01152-7

N/A

0DataRank · unranked

30 citations

Georgi Stoyanov, Florian Erger, Constantine A. Stratakis, Nikolaos Settas, Edra London +95 more

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Genetics in Medicine(2021)10.1038/s41436-021-01216-8

N/A

0DataRank · unranked

26 citations

Jennifer B. Phillips, Elizabeth L. Fieg, Sameer S. Bajikar, Judy Peirce, Jeremy Wegner +94 more