Carsten G. Bönnemann

Also affiliated with St. Jude Children's Research Hospital, National Institute of Neurological Disorders and Stroke

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 83 papers — median percentile 51. Top paper: “Intrathecal Gene Therapy for Giant Axonal Neuropathy”.

Intrathecal Gene Therapy for Giant Axonal Neuropathy

New England Journal of Medicine(2024)10.1056/nejmoa2307952

N/A

1.4DataRank · unranked

59 citations

Joshua J. Todd, Dimah Saade, Gina Norato, Minal Jain, Tanya Lehky +24 more

Randomized controlled trial of N -acetylcysteine therapy for RYR1 -related myopathies

Neurology(2020)10.1212/wnl.0000000000008872

N/A

1.3DataRank · unranked

43 citations

Tokunbor A. Lawal, Jessica W. Witherspoon, Irene C. Chrismer, Muslima S. Razaqyar, Monal Punjabi +17 more

GARS‐related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61544

N/A

0.926DataRank · unranked

28 citations

Rajarshi Ghosh, Molly E. Kuo, William Hong, Jaehyung Lim, Saunder Bernes +14 more

Rycal S48168 (ARM210) for RYR1-related myopathies: a phase one, open-label, dose-escalation trial

EClinicalMedicine(2024)10.1016/j.eclinm.2024.102433

N/A

0.718DataRank · unranked

23 citations

Tokunbor A. Lawal, Irene C. Chrismer, Angela Kokkinis, Christopher Grunseich, Minal Jain +19 more

A long-read RNA-seq approach to identify novel transcripts of very large genes

Genome Research(2020)10.1101/gr.259903.119

N/A

0.617DataRank · unranked

60 citations

Jeremy Goecks, Susan M. Knoblach, Karuna Panchapakesan, Carsten G. Bönnemann, Terence A. Partridge +3 more

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

Assessing Motor Function in Congenital Muscular Dystrophy Patients Using Accelerometry

Journal of Neuroscience Nursing(2020)10.1097/jnn.0000000000000519

N/A

0.269DataRank · unranked

5 citations

Joshua J. Todd, Jeffrey S. Elliott, Melody M. Linton, Megan Andres, Jessica W. Witherspoon +11 more

A new long-read RNA-seq analysis approach identifies and quantifies novel transcripts of very large genes

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.01.08.898627

N/A

0.165DataRank · unranked

2 citations

Jeremy Goecks, Susan M. Knoblach, Karuna Panchapakesan, Carsten G. Bönnemann, Terence A. Partridge +3 more

Physical activity-correlated changes in plasma enzyme concentrations in fragile sarcolemmal muscular dystrophies

medRxiv(2022)10.1101/2022.04.01.22273213

N/A

0.104DataRank · unranked

1 citations

Adriana E. Golding, Ivonne Morales, Hang Waters, Elena Mekhedov, Ludmila Bezrukov +9 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

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

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

Transcriptome analysis of collagen VI‐related muscular dystrophy muscle biopsies

Annals of Clinical and Translational Neurology(2021)10.1002/acn3.51450

N/A

0DataRank · unranked

25 citations

Payam Mohassel, Kory R. Johnson, Lin Yang, Mariarita Santi, Prech Uapinyoying +7 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

Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders

Molecular Therapy(2022)10.1016/j.ymthe.2022.05.014

N/A

0DataRank · unranked

26 citations

Guangping Gao, Elizabeth Berry‐Kravis, Allison M. Bradbury, Carsten G. Bönnemann, Joseph D. Buxbaum +12 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

PIEZO2 in somatosensory neurons controls gastrointestinal transit

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.11.27.518109

N/A

0DataRank · unranked

10 citations

Ruby M. Lam, Alize Koolen, Yu Wang, Dimah Saade, Meaghan Loud +7 more

PIEZO2 in somatosensory neurons controls gastrointestinal transit

Cell(2023)10.1016/j.cell.2023.07.006

N/A

0DataRank · unranked

137 citations

Ruby M. Lam, Alize Koolen, Yu Wang, Dimah Saade, Meaghan Loud +9 more

PIEZO2 and perineal mechanosensation are essential for sexual function

Science(2023)10.1126/science.adg0144

N/A

0DataRank · unranked

59 citations

Lars J. von Buchholtz, Mélanie Falgairolle, Jennifer Osborne, Eleni Frangos, M. Rocio Servin‐Vences +9 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

Single-cell transcriptomic analysis of the identity and function of fibro/adipogenic progenitors in healthy and dystrophic muscle

iScience(2023)10.1016/j.isci.2023.107479

N/A

0DataRank · unranked

23 citations

Marshall W. Hogarth, Surajit Battacharya, Davi A. G. Mázala, Karuna Panchapakesan, Carsten G. Bönnemann +2 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

Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial

EBioMedicine(2023)10.1016/j.ebiom.2023.104894

N/A

0DataRank · unranked

10 citations

Benedikt Schoser, Marta Margeta, Caroline A. Sewry, Karra A. Jones, Perry B. Shieh +34 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

Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63306

N/A

0DataRank · unranked

4 citations

Kalpathy S. Krishnamoorthy, Jennifer J. Johnston, Mary Lee, Darren Fowler, Leslie G. Biesecker +2 more

PIEZO2‐dependent rapid pain system in humans and mice

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.12.01.569650

N/A

0DataRank · unranked

9 citations

Marek Brodzki, Houria Manouze, Gabriela B. Carballo, Emma Kindström, Felipe Meira de‐Faria +24 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

Intermediate filament dysregulation and astrocytopathy in the human disease model of KLHL16 mutation in giant axonal neuropathy (GAN)

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.03.13.532440

N/A

0DataRank · unranked

1 citations

Maryam Faridounnia, Adriana S. Beltrán, Jasmine Robinson, Karina Kinghorn, J. Ashley Ezzell +8 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

Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy

Molecular Therapy — Nucleic Acids(2024)10.1016/j.omtn.2024.102178

N/A

0DataRank · unranked

15 citations

Apurva Sarathy, Véronique Bolduc, Grace S. Chen, Riley M. McCarty, Carsten G. Bönnemann +1 more

A Laing distal myopathy–associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity

Journal of Clinical Investigation(2024)10.1172/jci172599

N/A

0DataRank · unranked

12 citations

Genevieve C. K. Wilson, Ada Buvoli, Jack F. Gugel, Abbi Hau, Carsten G. Bönnemann +8 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

Allele-specific CRISPR-Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy

Molecular Therapy — Nucleic Acids(2024)10.1016/j.omtn.2024.102269

N/A

0DataRank · unranked

9 citations

Katherine Sizov, Astrid Brull, Eric Esposito, Grace S. Chen, Prech Uapinyoying +4 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

A humanized knock-in Col6a1 mouse recapitulates a deep-intronic splice-activating variant

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.03.21.581572

N/A

0DataRank · unranked

1 citations

Fady Guirguis, Berit Lubben, Lindsey Trank, Sarah Silverstein, Astrid Brull +5 more

Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.03.22.586265

N/A

0DataRank · unranked

1 citations

Katherine Sizov, Astrid Brull, Eric Esposito, Grace S. Chen, Prech Uapinyoying +4 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

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

Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants

Brain(2025)10.1093/brain/awaf219

N/A

0DataRank · unranked

3 citations

Christopher P. Ptak, Natalya Pashkova, Tiffany Grider, Tabitha A. Peterson, Davide Pareyson +47 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

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

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

PIEZO2 in sensory neurons and urothelial cells coordinates urination

Nature(2020)10.1038/s41586-020-2830-7

N/A

0DataRank · unranked

244 citations

Dimah Saade, Nima Ghitani, Adam M. Coombs, Marcin Szczot, Jason Keller +7 more

T2 Hyperintensities in Gracile Tracts of Cervical Spinal Cord in Giant Axonal Neuropathy ( GAN )

Muscle & Nerve(2025)10.1002/mus.70004

N/A

0DataRank · unranked

0 citations

Thomas W. Bouldin, Diana Bharucha‐Goebel, Terry Hartman, Steven J. Gray, Rachel M. Bailey +7 more

LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness

Frontiers in Molecular Neuroscience(2020)10.3389/fnmol.2020.00123

N/A

0DataRank · unranked

112 citations

A. Reghan Foley, Alberto A. Zambon, Carsten G. Bönnemann, Francesco Muntoni, Anna Sárközy

Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature

Skeletal Muscle(2020)10.1186/s13395-020-00243-4

N/A

0DataRank · unranked

93 citations

Joshua J. Todd, Jessica W. Witherspoon, Carsten G. Bönnemann, James J. Dowling, Susan L. Hamilton +3 more

Transcriptional Programming of Human Mechanosensory Neuron Subtypes from Pluripotent Stem Cells

Cell Reports(2020)10.1016/j.celrep.2019.12.062

N/A

0DataRank · unranked

90 citations

Michelle M. Lee, David F. Espinoza, Marcin Szczot, Ruby M. Lam, Qi Wang +10 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

Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional Study

Journal of Neuromuscular Diseases(2020)10.3233/jnd-190457

N/A

0DataRank · unranked

16 citations

Donovan J. Lott, Rebecca J. Willcocks, Sean C. Forbes, William Triplett, Jahannaz Dastgir +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

Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs

Neuromuscular Disorders(2020)10.1016/j.nmd.2020.03.005

N/A

0DataRank · unranked

15 citations

Katie M. Minor, Ying Hu, Rupleen Kaur, Steven G. Friedenberg, Samantha L. Van Buren +7 more

Human embryoid bodies as a 3D tissue model of the extracellular matrix and α-dystroglycanopathies

Disease Models & Mechanisms(2020)10.1242/dmm.042986

N/A

0DataRank · unranked

15 citations

Michelle M. Lee, Kristen Zukosky, Barbara S. Mallon, Carsten G. Bönnemann, Alec R. Nickolls

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

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern

Acta Neuropathologica(2020)10.1007/s00401-019-02117-6

N/A

0DataRank · unranked

39 citations

Macarena Cabrera‐Serrano, Katherine Johnson, Ashutosh Pandey, Atsuko Ito, Eloy Rivas +22 more

Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD

Molecular Therapy — Nucleic Acids(2020)10.1016/j.omtn.2020.05.029

N/A

0DataRank · unranked

37 citations

Véronique Bolduc, Pierpaolo Ala, Mark Turmaine, Carsten G. Bönnemann, Francesco Muntoni +2 more

The Platform Vector Gene Therapies Project: Increasing the Efficiency of Adeno-Associated Virus Gene Therapy Clinical Trial Startup

Human Gene Therapy(2020)10.1089/hum.2020.259

N/A

0DataRank · unranked

33 citations

Elizabeth A. Ottinger, Deanna Portero, Richa Madan Lomash, Asaf Alimardanov, Pramod Terse +35 more

Carsten G. Bönnemann

Indexed papers

Top data-sharing exemplar

Papers