Anne H. O’Donnell-Luria

Also affiliated with Boston Children's Hospital

NeuroscienceBiochemistry, 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 1%percentile

23.4Author DataRank

Indexed papers

9in 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 9 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.

Analysis of protein-coding genetic variation in 60,706 humans

Nature(2016)10.1038/nature19057

Top 1%

13.0DataRank

Top 1%10410 citations

Monkol Lek, Konrad J. Karczewski, Eric V. Minikel, Kaitlin E. Samocha, Iain Mathieson +76 more

Papers

Driven by 87 papers — median percentile 59. Top paper: “Analysis of protein-coding genetic variation in 60,706 humans”.

Analysis of protein-coding genetic variation in 60,706 humans

Nature(2016)10.1038/nature19057

Top 1%

13.0DataRank

Top 1%10410 citations

Monkol Lek, Konrad J. Karczewski, Eric V. Minikel, Kaitlin E. Samocha, Iain Mathieson +76 more

A structural variation reference for medical and population genetics

Nature(2020)10.1038/s41586-020-2287-8

Top 3%

6.7DataRank

Top 3%1180 citations

Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C. Francioli +201 more

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

Nature Communications(2020)10.1038/s41467-019-12438-5

N/A

5.6DataRank · unranked

143 citations

James Zou, Beryl B. Cummings, Jessica Alföldi, Laurent C. Francioli, Laura D. Gauthier +174 more

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Nature Communications(2020)10.1038/s41467-019-10717-9

N/A

5.2DataRank · unranked

191 citations

Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans +181 more

The effect of LRRK2 loss-of-function variants in humans

Nature Medicine(2020)10.1038/s41591-020-0893-5

N/A

4.9DataRank · unranked

114 citations

Irina M. Armean, Aaron Kleinman, Jamie L. Marshall, Eric V. Minikel, Julia K. Goodrich +214 more

Inverting the model of genomics data sharing with the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space

Cell Genomics(2022)10.1016/j.xgen.2021.100085

N/A

3.9DataRank · unranked

132 citations

Anthony Philippakis, Enis Afgan, Eric Banks, Vincent J. Carey, Robert J. Carroll +95 more

An open resource of structural variation for medical and population genetics

bioRxiv (Cold Spring Harbor Laboratory)(2019)10.1101/578674

Top 9%

2.2DataRank

Top 9%44 citations

Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C. Francioli +37 more

The mutational constraint spectrum quantified from variation in 141,456 humans

Nature(2020)10.1038/s41586-020-2308-7

N/A

1.4DataRank · unranked

9958 citations

Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo S. Wang +187 more

Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript

The Journal of Experimental Medicine(2021)10.1084/jem.20210444

N/A

1.1DataRank · unranked

32 citations

Jeffrey M. Verboon, Leif S. Ludwig, Susan Black, Wendy Luo, Kopal Garg +13 more

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

Nature Biotechnology(2009)10.1038/nbt.1523

N/A

1.1DataRank · unranked

1502 citations

Alexandre Melnikov, Jared Maguire, Peter Rogov, Emily M LeProust, William Brockman +11 more

The genomic complexity of primary human prostate cancer

Nature(2011)10.1038/nature09744

N/A

1.1DataRank · unranked

1250 citations

Michael S. Lawrence, Francesca Demichelis, Timothy R. Dreszer, Kristian Cibulskis, Sachet A. Shukla +36 more

The genetic architecture of type 2 diabetes

Nature(2016)10.1038/nature18642

N/A

1.1DataRank · unranked

1106 citations

Menachem Fromer, Tanya M. Teslovich, Anubha Mahajan, Vineeta Agarwala, Kyle J. Gaulton +334 more

Comparative analysis of RNA sequencing methods for degraded or low-input samples

Nature Methods(2013)10.1038/nmeth.2483

N/A

0.946DataRank · unranked

549 citations

Diego Borges-Rivera, Rahul Satija, David S. DeLuca, Michele A. Busby, Aaron M. Berlin +11 more

Transcript expression-aware annotation improves rare variant interpretation

Nature(2020)10.1038/s41586-020-2329-2

N/A

0.796DataRank · unranked

201 citations

Konrad J. Karczewski, Ditte Demontis, Eleanor G. Seaby, Nicholas A. Watts, Moriel Singer-Berk +177 more

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761

N/A

0.789DataRank · unranked

192 citations

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

The landscape of tolerated genetic variation in humans and primates

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.05.01.538953

N/A

0.782DataRank · unranked

24 citations

Tobias Hamp, Jeffrey M. Ede, Joshua G. Schraiber, Jeremy F. McRae, Moriel Singer‐Berk +92 more

The landscape of tolerated genetic variation in humans and primates

Science(2023)10.1126/science.abn8197

N/A

0.780DataRank · unranked

180 citations

Tobias Hamp, Jeffrey M. Ede, Joshua G. Schraiber, Jeremy F. McRae, Moriel Singer‐Berk +92 more

Evaluating drug targets through human loss-of-function genetic variation

Nature(2020)10.1038/s41586-020-2267-z

N/A

0.779DataRank · unranked

179 citations

Konrad J. Karczewski, Hilary C. Martin, Beryl B. Cummings, Nicola Whiffin, Daniel R. Rhodes +150 more

Transcript expression-aware annotation improves rare variant discovery and interpretation

bioRxiv (Cold Spring Harbor Laboratory)(2019)10.1101/554444

N/A

0.746DataRank · unranked

20 citations

Konrad J. Karczewski, Ditte Demontis, Eleanor G. Seaby, Nicholas A. Watts, Moriel Singer-Berk +14 more

seqr : A web‐based analysis and collaboration tool for rare disease genomics

Human Mutation(2022)10.1002/humu.24366

N/A

0.712DataRank · unranked

114 citations

Hana Snow, Ben Weisburd, Shifa Zhang, Samantha Baxter, Stephanie DiTroia +20 more

Developmental dynamics of RNA translation in the human brain

Nature Neuroscience(2022)10.1038/s41593-022-01164-9

N/A

0.694DataRank · unranked

101 citations

Benjamin Finander, GiHun Choi, Ava C. Carter, Iva Pritišanac, Aqsa Alam +20 more

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.06.12.593113

Top 38%

0.503DataRank

Top 38%12 citations

Moriel Singer‐Berk, Sarah L. Stenton, Julia K. Goodrich, Michael W. Wilson, Jonah Einson +6 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

Population-scale variability at short tandem repeat loci reveals pathogenicity signature

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.01.06.631535

Top 41%

0.461DataRank

Top 41%11 citations

Isaac Xu, Sarah Fazal, Egor Dolzhenko, David Pellerin, Ben Weisburd +30 more

Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations

Genetics in Medicine(2024)10.1016/j.gim.2024.101213

N/A

0.434DataRank · unranked

17 citations

Vikas Pejaver, Timothy Bergquist, Leslie G. Biesecker, Alicia B. Byrne, Emily A.W. Nadeau +21 more

GREGoR: accelerating genomics for rare diseases

Nature(2025)10.1038/s41586-025-09613-8

N/A

0.416DataRank · unranked

15 citations

Ben Heavner, Marsha M. Wheeler, Rachel A. Ungar, Jonathan LoTempio, Laurens Wiel +94 more

Novel Phenotypes and Genotype–Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome

Clinical Genetics(2025)10.1111/cge.14697

Top 47%

0.390DataRank

Top 47%9 citations

Seyda Kilic, Hailey Osika, Alisa Mo, Meg Quinn, Sonia Ballal +11 more

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.08.12.248526

N/A

0.385DataRank · unranked

12 citations

Elise Valkanas, Jessica L. Giordano, Harold Z. Wang, Benjamin B Currall, Kathryn O’Keefe +40 more

Improving transparency of computational tools for variant effect prediction

Nature Genetics(2024)10.1038/s41588-024-01821-8

N/A

0.373DataRank · unranked

11 citations

PREDRAG RADIVOJAC, Anne H. O’Donnell-Luria, Marc S. Greenblatt, Michael Tolstorukov, Dmitriy Sonkin +1 more

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets

Genetics in Medicine(2024)10.1016/j.gim.2024.101336

N/A

0.365DataRank · unranked

7 citations

Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin‐Tse +34 more

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

medRxiv(2023)10.1101/2023.08.08.23293829

N/A

0.330DataRank · unranked

8 citations

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

Rare penetrant mutations confer severe risk of common diseases

medRxiv(2023)10.1101/2023.05.01.23289356

N/A

0.269DataRank · unranked

5 citations

Jeremy F. McRae, Jacob C. Ulirsch, Jacqueline S. Dron, Tobias Hamp, Yanshen Yang +16 more

Beyond the exome: what's next in diagnostic testing for Mendelian conditions

arXiv (Cornell University)(2023)10.48550/arxiv.2301.07363

N/A

0.269DataRank · unranked

5 citations

Chloe Reuter, Shruti Marwaha, Medhat Mahmoud, Michael Duyzend, Hayk Barseghyan +19 more

Erratum: Corrigendum: Comparative analysis of RNA sequencing methods for degraded or low-input samples

Nature Methods(2014)10.1038/nmeth0214-210e

N/A

0.212DataRank · unranked

2 citations

Diego Borges-Rivera, Rahul Satija, David S. DeLuca, Michele A. Busby, Aaron M. Berlin +11 more

Interpreting the functional impact of genetic variants: The need for context qualifiers

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.11.007

N/A

0.208DataRank · unranked

3 citations

Hélène Cavé, Alessandro De Luca, Marina T. DiStefano, Rachel Karchin, Ana Clara Lugones +8 more

Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.09.12.612713

N/A

0.165DataRank · unranked

2 citations

Paola M. Matos Ruiz, Jessica King, Emma E. Foster, Lindsay Berube, Wai‐Man Chan +23 more

Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100419

N/A

0.165DataRank · unranked

2 citations

Sarah L. Stenton, Vijay S Ganesh, Jialan Ma, Grace E. VanNoy, Lynn Pais +5 more

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

medRxiv(2024)10.1101/2024.11.19.24317561

Top 78%

0.104DataRank

Top 78%1 citations

Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg +58 more

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

medRxiv(2024)10.1101/2024.12.22.24319370

N/A

0.104DataRank · unranked

1 citations

Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia +30 more

Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers

Human Genetics(2025)10.1007/s00439-025-02726-0

Top 78%

0.104DataRank

Top 78%1 citations

Kyoungyeul Lee, Junwoo Woo, Dong Wook Kim, Changwon Keum, Giulia Babbi +18 more

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.018

N/A

0DataRank · unranked

17 citations

Rodrigo Mendez, Rachel A. Ungar, Devon Bonner, Dena R. Matalon, Gabrielle Lemire +19 more

Search for a genetic cause of variably protease-sensitive prionopathy

PLoS Pathogens(2025)10.1371/journal.ppat.1013343

N/A

0DataRank · unranked

2 citations

Keisi Kotobelli, Stacey Hall, Michael E. Talkowski, Anne H. O’Donnell-Luria, Sonia M. Vallabh +3 more

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100441

N/A

0DataRank · unranked

1 citations

Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia +31 more

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

medRxiv(2025)10.1101/2025.01.02.24318941

N/A

0DataRank · unranked

10 citations

Rodrigo Mendez, Rachel A. Ungar, Devon Bonner, Dena R. Matalon, Gabrielle Lemire +20 more

Gene-based calibration of high-throughput functional assays for clinical variant classification

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.04.29.651326

N/A

0DataRank · unranked

6 citations

Ross Stewart, Shantanu Jain, Malvika Tejura, Abbye E. McEwen, Shawn Fayer +9 more

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

medRxiv(2025)10.1101/2025.08.13.25333306

N/A

0DataRank · unranked

5 citations

Alexander J. M. Blakes, Yuyang Chen, Joachim De Jonghe, Javeria Raza Alvi, Florence Amblard +69 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

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103429

Top 100%

0DataRank

Top 100%0 citations

Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg +58 more

Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5

Neuron(2020)10.1016/j.neuron.2020.01.030

N/A

0DataRank · unranked

27 citations

Connor Kenny, Abbe Lai, Dilenny M. Gonzalez, Edward Stronge, Gabrielle Séjourné +18 more

Apcdd1 is a dual BMP/Wnt inhibitor in the developing nervous system and skin

Developmental Biology(2020)10.1016/j.ydbio.2020.03.015

N/A

0DataRank · unranked

27 citations

Neha Bhat, Keith D. Phan, Jinbai Guo, Lăcrimioara Iancu, Jessica A. Weber +10 more

Quantifying prion disease penetrance using large population control cohorts

UNC Libraries(2020)10.17615/m8r0-g416

N/A

0DataRank · unranked

1 citations

Hidehiro Mizusawa, Pamela Sklar, Nobuo Sanjo, Miguel Calero, Theo F. J. Kraus +58 more

Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach

Journal of Allergy and Clinical Immunology(2021)10.1016/j.jaci.2021.04.034

N/A

0DataRank · unranked

60 citations

Zhengping Huang, Samantha Baxter, Yuelong Huang, Mária Lucía Taylor, Lauren A. Henderson +11 more

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.003

N/A

0DataRank · unranked

46 citations

Maya M. Polovitskaya, Héctor Gaitán‐Peñas, Sara Bertelli, Grace E. VanNoy, P. Ellen Grant +34 more

A form of muscular dystrophy associated with pathogenic variants in JAG2

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.03.020

N/A

0DataRank · unranked

41 citations

Alison M. Barnard, Sanna Puusepp, Sander Pajusalu, Katrin Õunap, Dorianmarie Vargas‐Franco +53 more

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.01.008

N/A

0DataRank · unranked

27 citations

Amar J. Majmundar, Kamal Khan, Tze Yin Lim, Shirlee Shril, Gina Jin +62 more

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Molecular Genetics & Genomic Medicine(2021)10.1002/mgg3.1809

N/A

0DataRank · unranked

14 citations

Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott +40 more

Developmental Dynamics of RNA Translation in the Human Brain

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.10.22.465170

N/A

0DataRank · unranked

8 citations

Benjamin Finander, GiHun Choi, Ava C. Carter, Iva Pritišanac, Aqsa Alam +18 more

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.10.013

N/A

0DataRank · unranked

548 citations

Alicia B. Byrne, Bing Feng, Kymberleigh A. Pagel, Sean D. Mooney, Rachel Karchin +20 more

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

Annals of Clinical and Translational Neurology(2022)10.1002/acn3.51506

N/A

0DataRank · unranked

82 citations

Dustin L. Gable, Jamie Love‐Nichols, Alexa Tsao, Shira Rockowitz, Piotr Sliz +34 more

Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy

Annals of Clinical and Translational Neurology(2022)10.1002/acn3.51612

N/A

0DataRank · unranked

40 citations

Hannah R. Littel, Audrey L. Daugherty, Seth A. Stafki, Elicia Estrella, Emily S. McGaughy +19 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

Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62940

N/A

0DataRank · unranked

5 citations

Isabel Haviland, Yoel Gofin, Lindsay C. Swanson, Christelle Moufawad El Achkar, John M. Schreiber +21 more

Evidence-based calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for clinical use of PP3/BP4 criteria

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.03.17.484479

N/A

0DataRank · unranked

34 citations

Alicia B. Byrne, Bing Feng, Kymberleigh A. Pagel, Sean D. Mooney, Rachel Karchin +9 more

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.002

N/A

0DataRank · unranked

315 citations

Miguel de la Hoya, George A. R. Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T. Parsons +28 more

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.07.010

N/A

0DataRank · unranked

54 citations

Elise Valkanas, Jessica L. Giordano, Harold Z. Wang, Benjamin B Currall, Kathryn O’Keefe +40 more

Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.08.005

N/A

0DataRank · unranked

30 citations

Sanna Gudmundsson, Samantha Baxter, Eleanor G. Seaby, Eleina England, Jordan C. Wood +8 more

Advancing Understanding of Inequities in Rare Disease Genomics

Clinical Therapeutics(2023)10.1016/j.clinthera.2023.06.010

N/A

0DataRank · unranked

22 citations

Melanie O’Leary, Grace E. VanNoy, Brian Mangilog, Ingrid A. Holm, Yarden S. Fraiman +4 more

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

Acta Neuropathologica(2023)10.1007/s00401-023-02551-7

N/A

0DataRank · unranked

12 citations

Christine C. Bruels, Sandra Donkervoort, A. Reghan Foley, Anna Codina, José C. Milisenda +29 more

First-tier next-generation sequencing for newborn screening: An important role for biochemical second-tier testing

Genetics in Medicine Open(2023)10.1016/j.gimo.2023.100821

N/A

0DataRank · unranked

9 citations

Madelynn Campagna, Anthony Philippakis, Anne H. O’Donnell-Luria, Michael H. Gelb, Sarah L. Stenton

Interpreting variants in genes affected by clonal hematopoiesis in population data

Human Genetics(2023)10.1007/s00439-023-02526-4

N/A

0DataRank · unranked

8 citations

Colleen M. Carlston, Anne H. O’Donnell-Luria, Sanna Gudmundsson

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.01.006

N/A

0DataRank · unranked

6 citations

Marisol Cortés, Periklis Makrythanasis, Mohnish Suri, Alexander M. Taylor, Jennifer A. Sullivan +44 more

Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data

medRxiv(2023)10.1101/2023.03.08.23286955

N/A

0DataRank · unranked

4 citations

Sanna Gudmundsson, Samantha Baxter, Eleanor G. Seaby, Eleina England, Jordan C. Wood +8 more

Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency

medRxiv(2023)10.1101/2023.08.22.23294267

N/A

0DataRank · unranked

1 citations

María Sanchiz-Calvo, Jordann Smak, Lynn Pais, Malika Sud, Uma Shankavaram +11 more

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

medRxiv(2023)10.1101/2023.09.27.23294269

N/A

0DataRank · unranked

1 citations

Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff +50 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

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

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.52041

N/A

0DataRank · unranked

23 citations

Samantha J. Bryen, Melanie Bahlo, Anita Cairns, Katherine R. Chao, Alastair Corbett +25 more

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model

Brain(2024)10.1093/brain/awae371

N/A

0DataRank · unranked

5 citations

Lee B. Miles, Yoshihiko Saito, Eloy Rivas, Vanessa Calcinotto, Sara Oveissi +36 more

De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency

iScience(2024)10.1016/j.isci.2024.109984

N/A

0DataRank · unranked

4 citations

María Sanchiz-Calvo, Jordann Smak, Lynn Pais, Malika Sud, Uma Shankavaram +11 more

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100273

N/A

0DataRank · unranked

3 citations

Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff +51 more

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N/A

0DataRank · unranked

3 citations

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bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.09.17.611902

N/A

0DataRank · unranked

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medRxiv(2024)10.1101/2024.04.07.24305438

N/A

0DataRank · unranked

10 citations

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bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.03.17.585403

N/A

0DataRank · unranked

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medRxiv(2024)10.1101/2024.02.11.24302646

N/A

0DataRank · unranked

0 citations

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N/A

0DataRank · unranked

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N/A

0DataRank · unranked

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