Sandra Donkervoort

Government of the United States of America

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 5%percentile

0.367Author DataRank

Indexed papers

1in 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 1 indexed paper 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.

A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy

Annals of Clinical and Translational Neurology(2023)10.1002/acn3.51834

Top 49%

0.367DataRank

Top 49%6 citations

Pomi Yun, Safoora Syeda, Abhinandan Batra, Andrew J. Bradley, Sandra Donkervoort +17 more

Papers

Driven by 55 papers — median percentile 51. Top paper: “Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder”.

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Nature Communications(2021)10.1038/s41467-021-22627-w

N/A

0.598DataRank · unranked

53 citations

Deepa Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee +65 more

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.002

N/A

0.578DataRank · unranked

46 citations

Carl Elias Kutzner, Ying Hu, Xavière Lornage, John Rendu, Tanya Stojkovic +42 more

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Nature Communications(2022)10.1038/s41467-022-30015-1

N/A

0.571DataRank · unranked

44 citations

Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O’Donovan, Maura Coughlin +53 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

A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy

Annals of Clinical and Translational Neurology(2023)10.1002/acn3.51834

Top 49%

0.367DataRank

Top 49%6 citations

Pomi Yun, Safoora Syeda, Abhinandan Batra, Andrew J. Bradley, Sandra Donkervoort +17 more

Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy

Neurology Genetics(2024)10.1212/nxg.0000000000200148

N/A

0.280DataRank · unranked

4 citations

Pomi Yun, M. Leach, Sarah Neuhaus, G. Averion, Ying Hu +17 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

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Nature Medicine(2021)10.1038/s41591-021-01346-1

N/A

0DataRank · unranked

153 citations

Sandra Donkervoort, Museer A. Lone, Matthew Nalls, Kenneth Gable, Sita D. Gupta +41 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

Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort

Brain(2021)10.1093/brain/awab179

N/A

0DataRank · unranked

38 citations

Gina Norato, Dimah Saade, Eduardo Paredes, Victoria Biancavilla, Sandra Donkervoort +14 more

Innocuous pressure sensation requires A-type afferents but not functional ΡΙΕΖΟ2 channels in humans

Nature Communications(2021)10.1038/s41467-021-20939-5

N/A

0DataRank · unranked

36 citations

Jaquette Liljencrantz, Nicholas Madian, Aaron Necaise, Justin D. Tubbs, Micaela V. McCall +16 more

International retrospective natural history study of LMNA-related congenital muscular dystrophy

Brain Communications(2021)10.1093/braincomms/fcab075

N/A

0DataRank · unranked

35 citations

Pomi Yun, Ivana Dabaj, Gina Norato, Sandra Donkervoort, Hui Xiong +39 more

Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium

Journal of Clinical Investigation(2021)10.1172/jci145700

N/A

0DataRank · unranked

24 citations

Sandra Donkervoort, Josine M. de Winter, Stefan Conijn, Leon P. L. Begthel, Benno Küsters +20 more

A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report

BMC Neurology(2021)10.1186/s12883-021-02134-7

N/A

0DataRank · unranked

3 citations

U. M. J. E. Samaranayake, Osório Lopes Abath Neto, A. Reghan Foley, B. A. P. S. Pathirana, Nilaksha Neththikumara +6 more

Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

medRxiv(2021)10.1101/2021.04.08.21254942

N/A

0DataRank · unranked

2 citations

Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin J. O’Donovan, Maura Coughlin +53 more

Digenic Inheritance Involving a Muscle Specific Protein Kinase and the Giant Titin Protein Causes a Skeletal Muscle Myopathy

SSRN Electronic Journal(2021)10.2139/ssrn.3801723

N/A

0DataRank · unranked

2 citations

Irina Zaharieva, Valeria Di Leo, Anna Vihola, Neha Wali, Marco Savarese +60 more

International retrospective natural history study of LMNA-related congenital muscular dystrophy Short Title: LMNA-CMD natural history

HAL (Le Centre pour la Communication Scientifique Directe)(2021)10.1093/braincomms/fcab075/6220465

N/A

0DataRank · unranked

0 citations

Pomi Yun, Adele D’Amico, Muntoni Francesco, C. Bönnemann, Ivana Dabaj +40 more

Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease

Human Genetics and Genomics Advances(2022)10.1016/j.xhgg.2022.100097

N/A

0DataRank · unranked

15 citations

L Bianchi, Francesca Rastelli, Florence Piron‐Prunier, Sophie Ayciriex, Claude Besmond +21 more

Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants

Neurology(2022)10.1212/wnl.0000000000200032

N/A

0DataRank · unranked

10 citations

Ning Chang, Kaoru Inoue, Angela Delaney, Ying Hu, Sandra Donkervoort +17 more

A Life-Threatening Complication in a Patient with Ehlers-Danlos Syndrome Musculocontractural Type

The Journal of Pediatric Research(2022)10.4274/jpr.galenos.2022.51482

N/A

0DataRank · unranked

3 citations

Sandra Donkervoort, Pelin Özlem Şimşek‐Kiper, Rahşan Göçmen, Gülen Eda Ütine, Koray Boduroğlu +3 more

FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum

Journal of Medical Genetics(2022)10.1136/jmedgenet-2021-108341

N/A

0DataRank · unranked

4 citations

Cheryl Longman, Maria Elena Farrugia, S. Kapetanovic García, Didem Ardıçlı, Haluk Topaloğlu +15 more

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.04.006

N/A

0DataRank · unranked

37 citations

Tanya L. Schwab, Sarah K. Macklin‐Mantia, A. Reghan Foley, Filippo Pinto e Vairo, Davut Pehli̇van +25 more

Recurrentde-novo gain-of-functionmutation inSPTLC2confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis

Journal of Neurology Neurosurgery & Psychiatry(2023)10.1136/jnnp-2023-332130

N/A

0DataRank · unranked

14 citations

Danique Beijer, Museer A. Lone, Elif Bayraktar, Piraye Oflazer, Rotem Orbach +15 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

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Genetics in Medicine(2023)10.1016/j.gim.2023.101023

N/A

0DataRank · unranked

11 citations

Emily K. Mis, Kirsty McWalter, Sandra Donkervoort, Nina N. Brodsky, Jean-Marie Carpier +95 more

Unusually severe muscular dystrophy upon in-frame deletion of the dystrophin rod domain and lack of compensation by membrane-localized utrophin

Med(2023)10.1016/j.medj.2023.02.005

N/A

0DataRank · unranked

8 citations

Joachim Schessl, Yaqun Zou, Michele Yang, Peter Heydemann, Robert Sufit +6 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

CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes

Journal of Clinical Investigation(2024)10.1172/jci179559

N/A

0DataRank · unranked

19 citations

Rotem Orbach, Irina Zaharieva, Ana Töpf, Sandra Donkervoort, Pinki Munot +20 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

0DataRank · unranked

7 citations

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

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

Nature Communications(2024)10.1038/s41467-024-45933-5

N/A

0DataRank · unranked

10 citations

Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü +52 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

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.51983

N/A

0DataRank · unranked

3 citations

Payam Mohassel, Melanie O’Leary, Devon Bonner, Taila Hartley, Nicole Acquaye +19 more

Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100274

N/A

0DataRank · unranked

2 citations

Chamindra G. Laverty, Sandra Donkervoort, Ying Hu, Sarah Silverstein, Sarah Neuhaus +12 more

Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features

medRxiv(2024)10.1101/2024.09.23.24313872

N/A

0DataRank · unranked

3 citations

Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof, Enzo Cohen +33 more

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

medRxiv(2024)10.1101/2024.03.29.24304673

N/A

0DataRank · unranked

2 citations

Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach +64 more

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

medRxiv(2024)10.1101/2024.02.11.24302646

N/A

0DataRank · unranked

0 citations

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

Differential inclusion of NEB exons 143 and 144 provides insight into NEB -related myopathy variant interpretation and disease manifestation

medRxiv(2024)10.1101/2024.03.25.24304535

N/A

0DataRank · unranked

0 citations

Rotem Orbach, Safoora Syeda, A. Reghan Foley, Svetlana Gorokhova, Katherine G. Meilleur +6 more

Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100354

N/A

0DataRank · unranked

0 citations

Rotem Orbach, Safoora Syeda, A. Reghan Foley, Svetlana Gorokhova, Katherine G. Meilleur +6 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

Effects of HMG CoA reductase ( HMGCR ) deficiency on skeletal muscle development

FEBS Journal(2025)10.1111/febs.17406

N/A

0DataRank · unranked

6 citations

Hannah R. Littel, Natalya M. Wells, Johnnie Turner, Gloriana Campos, Sree Venigalla +16 more

Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy

Genetics in Medicine(2025)10.1016/j.gim.2025.101399

N/A

0DataRank · unranked

5 citations

Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof, Enzo Cohen +32 more

Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants

Annals of Clinical and Translational Neurology(2025)10.1002/acn3.52225

N/A

0DataRank · unranked

3 citations

Dimah Saade, Pinki Munot, Chamindra G. Laverty, Hailey Pinz, Yaqun Zou +24 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

0DataRank · unranked

3 citations

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

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Brain(2020)10.1093/brain/awaa420

N/A

0DataRank · unranked

56 citations

Rauan Kaiyrzhanov, Yaqun Zou, Sahar Da’as, Reza Maroofian, Sandra Donkervoort +91 more

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology(2025)10.1002/acn3.70108

N/A

0DataRank · unranked

0 citations

Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li +7 more

Hypoglycemia in patients with congenital muscle disease

BMC Pediatrics(2020)10.1186/s12887-020-1909-5

N/A

0DataRank · unranked

16 citations

Pomi Yun, Payam Mohassel, Gina Norato, Sandra Donkervoort, M. Leach +6 more

Responsiveness and Minimal Clinically Important Difference of the Motor Function Measure in Collagen VI-Related Dystrophies and Laminin Alpha2-Related Muscular Dystrophy

Archives of Physical Medicine and Rehabilitation(2020)10.1016/j.apmr.2020.10.116

N/A

0DataRank · unranked

16 citations

Katherine G. Meilleur, Gina Norato, Pascal Rippert, Minal Jain, Margaret Fink +6 more

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content

Human Molecular Genetics(2020)10.1093/hmg/ddaa051

N/A

0DataRank · unranked

9 citations

Jouni Kvist, Noora Andersson, Katrin Õunap, Karit Reinson, Monica H. Wojcik +23 more

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Genetics in Medicine(2020)10.1038/s41436-020-01020-w

N/A

0DataRank · unranked

47 citations

Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker +53 more

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome

Annals of Neurology(2020)10.1002/ana.25772

N/A

0DataRank · unranked

41 citations

Yaqun Zou, James E. Dunford, Jachinta Rooney, Goutam Chandra, Hui Xiong +29 more

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61765

N/A

0DataRank · unranked

29 citations

Payam Mohassel, Lucia Laugwitz, Maha S. Zaki, Erik‐Jan Kamsteeg, Reza Maroofian +24 more

Sandra Donkervoort

Indexed papers

Top data-sharing exemplar

Papers