Casie A. Genetti

Also affiliated with Harvard University, Dana-Farber/Boston Children's Cancer and Blood Disorders Center

Biochemistry, Genetics and Molecular Biology

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 3%percentile

1.4Author DataRank

Indexed papers

2in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials

Annals of Clinical and Translational Neurology(2020)10.1002/acn3.51218

Top 20%

1.0DataRank

Top 20%27 citations

Anna Sárközy, Mariacristina Scoto, Deborah Ridout, Anne Schmidt, Aidan Laverty +14 more

Papers

Driven by 40 papers — median percentile 66. Top paper: “Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study”.

Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study

Frontiers in Genetics(2022)10.3389/fgene.2022.867371

N/A

2.6DataRank · unranked

70 citations

Kurt D. Christensen, Casie A. Genetti, Richard B. Parad, Jill O. Robinson, Carrie L. Blout Zawatsky +9 more

Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials

Annals of Clinical and Translational Neurology(2020)10.1002/acn3.51218

Top 20%

1.0DataRank

Top 20%27 citations

Anna Sárközy, Mariacristina Scoto, Deborah Ridout, Anne Schmidt, Aidan Laverty +14 more

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

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.001

N/A

0.515DataRank · unranked

30 citations

Antonio Vitobello, Stephan C. Collins, Valerie E. Vancollie, Christopher J. Lelliott, Lance H. Rodan +25 more

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.03.008

N/A

0.489DataRank · unranked

25 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants

Genes(2023)10.3390/genes14040779

N/A

0.445DataRank · unranked

8 citations

Merhawi Ghebrelul, Casie A. Genetti, Richard S. Smith, Shira Rockowitz, Emma Deaso +6 more

Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing

Value in Health(2020)10.1016/j.jval.2020.01.017

N/A

0.416DataRank · unranked

15 citations

Dmitry Dukhovny, Kathryn A. Phillips, Alan H. Beggs, Robert C. Green, Richard B. Parad +27 more

Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States

Orphanet Journal of Rare Diseases(2023)10.1186/s13023-023-02733-2

Top 48%

0.378DataRank

Top 48%3 citations

Basil T. Darras, Tmirah Haselkorn, Daniel Fisher, Casie A. Genetti, Weston P. Miller +2 more

De novo variants in MPP5 cause global developmental delay and behavioral changes

Human Molecular Genetics(2020)10.1093/hmg/ddaa224

N/A

0.360DataRank · unranked

10 citations

Anna R. Duncan, Raehee Park, David A. Koolen, Jiahai Shi, Seo‐Hee Cho +16 more

Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study

BMJ Open(2024)10.1136/bmjopen-2023-080529

N/A

0.334DataRank · unranked

6 citations

Sonia Hills, Jessica Douglas, Vanessa Young, Casie A. Genetti, Monica H. Wojcik +5 more

Titin copy number variations associated with dominant inherited phenotypes

Journal of Medical Genetics(2023)10.1136/jmg-2023-109473

N/A

0.269DataRank · unranked

5 citations

Corinne Métay, Marco Savarese, Rabah Ben Yaou, German Demidov, Isabelle Nelson +28 more

Medical Evaluation of Unanticipated Monogenic Disease Risks Identified through Newborn Genomic Screening: Findings from the BabySeq Project

medRxiv(2022)10.1101/2022.03.18.22272284

N/A

0.241DataRank · unranked

4 citations

Nidhi Shah, Casie A. Genetti, Timothy W. Yu, Bethany Zettler, Talia S. Schwartz +13 more

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions

European Journal of Human Genetics(2025)10.1038/s41431-025-01891-0

N/A

0.208DataRank · unranked

3 citations

K. Kiiski, Kireshnee Naidu, Krutik Patel, Per Harald Jonson, Milla Laarne +26 more

Diverse Participant Recruitment for Infant Sequencing in the BabySeq Project

medRxiv(2024)10.1101/2024.10.01.24314717

N/A

0.165DataRank · unranked

2 citations

Sheyenne A. Walmsley, Barbara W. Harrison, Crystal T. Stephens, Bethany Zettler, Greysha Rivera-Cruz +17 more

Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency

Human Mutation(2022)10.1002/humu.24332

N/A

0DataRank · unranked

16 citations

Tianyun Wang, Madelyn A. Gillentine, Tiana M. Scott, Aliska M. Berry, Mahshid S. Azamian +19 more

Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.05.007

N/A

0DataRank · unranked

55 citations

Nidhi Shah, Casie A. Genetti, Timothy W. Yu, Bethany Zettler, Melissa Kurtz Uveges +12 more

A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders

Human Genetics and Genomics Advances(2021)10.1016/j.xhgg.2021.100035

N/A

0DataRank · unranked

10 citations

Casie A. Genetti, Asli Aykanat, Catherine A. Brownstein, Klaus Schmitz‐Abe, Morgan Danowski +17 more

High number of candidate gene variants are identified as disease‐causing in a period of 4 years

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63509

N/A

0DataRank · unranked

5 citations

Qifei Li, Jill A. Madden, Casie A. Genetti, Catherine A. Brownstein, Klaus Schmitz‐Abe +3 more

Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63226

N/A

0DataRank · unranked

10 citations

Siddharth Srivastava, Pankaj B. Agrawal, Tuğçe B. Balcı, Bert Callewaert, Pier Luigi Calvo +35 more

Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study

Journal of Medical Internet Research(2021)10.2196/21023

N/A

0DataRank · unranked

13 citations

Margaret A. Hojlo, Sampath Chennuri, Nitin Gujral, Heather Paterson, Kent A Shefchek +14 more

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Genetics in Medicine(2021)10.1038/s41436-021-01114-z

N/A

0DataRank · unranked

93 citations

Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels +76 more

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

medRxiv(2023)10.1101/2023.08.08.23293829

N/A

0DataRank · unranked

8 citations

Gabrielle Lemire, Maha S. Zaki, Mariel Wissman, Wathone Win, S. White +70 more

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

medRxiv(2023)10.1101/2023.10.05.23296595

N/A

0DataRank · unranked

1 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761

N/A

0DataRank · unranked

189 citations

Gabrielle Lemire, Eva Berger, Maha S. Zaki, Mariel Wissmann, Wathone Win +84 more

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Nature Genetics(2024)10.1038/s41588-023-01651-0

N/A

0DataRank · unranked

33 citations

Dan Cox, Irina Zaharieva, Valeria Di Leo, J. Sarparanta, Per Harald Jonson +80 more

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.01.013

N/A

0DataRank · unranked

25 citations

Eva Jacobs, Lies Vantomme, Pontus LeBlanc, Elke Bogaert, Annelies Dheedene +95 more

Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

medRxiv(2020)10.1101/2020.09.09.20187104

N/A

0DataRank · unranked

9 citations

Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels +71 more

Family genetic risk communication and reverse cascade testing in the BabySeq project

Genetics in Medicine(2024)10.1016/j.gim.2024.101350

N/A

0DataRank · unranked

3 citations

Hadley Stevens Smith, Stacey Pereira, Casie A. Genetti, Amy L. McGuire, Alan H. Beggs +38 more

Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease

Kidney International Reports(2020)10.1016/j.ekir.2020.05.008

N/A

0DataRank · unranked

5 citations

Monica H. Wojcik, Casie A. Genetti, Thomas E. Mullen, Pankaj B. Agrawal, Deborah R. Stein +1 more

“It’s hard to wait”: Provider perspectives on current genomic care in safety-net NICUs

Genetics in Medicine(2024)10.1016/j.gim.2024.101177

N/A

0DataRank · unranked

5 citations

Monica H. Wojcik, Sonia Hills, Jessica Douglas, Pankaj B. Agrawal, Tyler Allcroft +26 more

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

medRxiv(2024)10.1101/2024.04.07.24305438

N/A

0DataRank · unranked

10 citations

Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl +92 more

Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions

medRxiv(2024)10.1101/2024.10.04.24313542

N/A

0DataRank · unranked

0 citations

K. Kiiski, K. Satyam Naidu, Krutik Patel, Per Harald Jonson, Milla Laarne +26 more

Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy

Neurology Genetics(2025)10.1212/nxg.0000000000200277

N/A

0DataRank · unranked

2 citations

Casie A. Genetti, Tanya Logvinenko, Wathone Win, Pamela Barraza‐Flores, Leslie H. Hayes +8 more

Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions

medRxiv(2025)10.1101/2025.11.07.25339764

N/A

0DataRank · unranked

3 citations

Adriana E. Sedeño-Cortés, Jane Ranchalis, Katherine M. Munson, Mitchell R. Vollger, Elsa Balton +15 more

Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti

Research Square(2025)10.21203/rs.3.rs-5811417/v1

N/A

0DataRank · unranked

0 citations

Robin D. Clark, Abdallah F. Elias, Casie A. Genetti, Jill A. Madden, Dana Simpson +21 more

Lethal neonatal acidosis: Multiomic investigation of a novel HIBCH variant as the underlying cause

Molecular Genetics and Metabolism Reports(2025)10.1016/j.ymgmr.2025.101223

N/A

0DataRank · unranked

0 citations

Muhammad Zain-Ul-Abideen, Genevieve G. Guyol, Lance H. Rodan, Casie A. Genetti, Ainong Ren +7 more

A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings

PLoS Genetics(2021)10.1371/journal.pgen.1009639

N/A

0DataRank · unranked

7 citations

Michal Dibus, Alicia Casey, Christina Yee, Sara O. Vargas, Shiyu Luo +15 more

Long-read sequencing is required for precision diagnosis of incontinentia pigmenti

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100468

N/A

0DataRank · unranked

0 citations

Robin D. Clark, Abdallah F. Elias, Casie A. Genetti, Jill A. Madden, Dana Simpson +21 more

RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes

Molecular Psychiatry(2021)10.1038/s41380-021-01035-y

N/A

0DataRank · unranked

16 citations

Richard S. Smith, Lance H. Rodan, Mark Gorman, Margaret A. Hojlo, Emily A. Garvey +25 more

Parents’ decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project

Genetics in Medicine(2022)10.1016/j.gim.2022.100002

N/A

0DataRank · unranked

24 citations

Amanda M. Gutierrez, Jill O. Robinson, Kurt D. Christensen, Casie A. Genetti, Carrie L. Blout Zawatsky +9 more

Casie A. Genetti

Indexed papers

Top data-sharing exemplar

Papers