Marni J. Falk

Also affiliated with University of Pennsylvania

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 2%percentile

2.0Author 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.

Mitochondrial diseases in North America

Neurology Genetics(2020)10.1212/nxg.0000000000000402

Top 11%

2.0DataRank

Top 11%77 citations

Yuelin Long, Victoria Cooley, Robert Schoenaker, Valentina Emmanuele, Salvatore DiMauro +30 more

Papers

Driven by 46 papers — median percentile 89. Top paper: “Mitochondrial diseases in North America”.

Mitochondrial diseases in North America

Neurology Genetics(2020)10.1212/nxg.0000000000000402

Top 11%

2.0DataRank

Top 11%77 citations

Yuelin Long, Victoria Cooley, Robert Schoenaker, Valentina Emmanuele, Salvatore DiMauro +30 more

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy

Neurology(2023)10.1212/wnl.0000000000207402

N/A

1.5DataRank · unranked

72 citations

Enrico Bertini, Valério Carelli, Bruce H. Cohen, Gregory M. Enns, Marni J. Falk +59 more

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

Brain(2023)10.1093/brain/awac460

N/A

0.992DataRank · unranked

35 citations

Hagar Mor Shaked, Kenneth Gable, Sita D. Gupta, Xueyang Pan, Niranjanakumari Somashekarappa +93 more

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

npj Genomic Medicine(2023)10.1038/s41525-022-00343-8

N/A

0.605DataRank · unranked

18 citations

Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen F. Macnamara +95 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

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62124

N/A

0DataRank · unranked

72 citations

Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson +95 more

Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans

Genetics in Medicine(2021)10.1016/j.gim.2021.09.014

N/A

0DataRank · unranked

19 citations

Irena Feng, Ana Rita Costa, Rita Pinto‐Costa, Jennifer E. Neil, Oana Caluseriu +21 more

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Genetics in Medicine(2021)10.1038/s41436-021-01232-8

N/A

0DataRank · unranked

49 citations

Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra +92 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

Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease

Molecular Genetics and Metabolism(2021)10.1016/j.ymgme.2021.12.006

N/A

0DataRank · unranked

29 citations

Jorune Balciuniene, Maria Alejandra Diaz‐Miranda, Elizabeth M. McCormick, Erfan Aref-Eshghi, Alison M. Muir +14 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

Combinatorial glucose, nicotinic acid and N-acetylcysteine therapy has synergistic effect in preclinicalC. elegansand zebrafish models of mitochondrial complex I disease

Human Molecular Genetics(2021)10.1093/hmg/ddab059

N/A

0DataRank · unranked

20 citations

Neal D. Mathew, Chigoziri Konkwo, Julian Ostrovsky, Young Joon Kwon, Erzsébet Polyák +7 more

Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease

Advanced Genetics(2021)10.1002/ggn2.202100047

N/A

0DataRank · unranked

3 citations

Laura E. MacMullen, John C. Campbell, John Christodoulou, Bruce H. Cohen, Thomas Klopstock +11 more

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome

Molecular Genetics and Metabolism(2021)10.1016/s1096-7192(21)00373-5

N/A

0DataRank · unranked

1 citations

Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson +95 more

Dichloroacetate and thiamine improve survival and mitochondrial stress in a C. elegans model of dihydrolipoamide dehydrogenase deficiency

JCI Insight(2022)10.1172/jci.insight.156222

N/A

0DataRank · unranked

23 citations

Prabhjot Kaur, Manuela Lavorato, Smruthi Ganesh, Rui Xiao, Neal D. Mathew +4 more

The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorder

Human Molecular Genetics(2022)10.1093/hmg/ddac085

N/A

0DataRank · unranked

17 citations

Mümine Şentürk, Kelly Schoch, Amanda L. Minogue, Diego Lopergolo, Chiara Fallerini +95 more

Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.02.006

N/A

0DataRank · unranked

12 citations

Marni J. Falk, Amy Goldstein, Ibrahim George‐Sankoh, Rui Xiao, Laura Adang +2 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

Dichloroacetate improves mitochondrial function, physiology, and morphology in FBXL4 disease models

JCI Insight(2022)10.1172/jci.insight.156346

N/A

0DataRank · unranked

14 citations

Eiko Nakamaru‐Ogiso, Neal D. Mathew, Elizabeth T. Herman, Nina Shah, Suraiya Haroon +4 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

0DataRank · unranked

1 citations

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

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum

Annals of Neurology(2023)10.1002/ana.26716

N/A

0DataRank · unranked

61 citations

Kierstin Keller, Julie P. Taylor, Alison J. Coffey, Li Shen, Danuta Krotoski +7 more

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Journal of Clinical Investigation(2023)10.1172/jci171235

N/A

0DataRank · unranked

44 citations

Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch +95 more

N-acetylcysteine and cysteamine bitartrate prevent azide-induced neuromuscular decompensation by restoring glutathione balance in two novel surf1 −/− zebrafish deletion models of Leigh syndrome

Human Molecular Genetics(2023)10.1093/hmg/ddad031

N/A

0DataRank · unranked

14 citations

Heeyong Yoon, Christoph Seiler, Bruce Osei-Frimpong, Jie He, Rohini M Nair +8 more

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Genetics in Medicine(2023)10.1016/j.gim.2023.100897

N/A

0DataRank · unranked

10 citations

Kelly Schoch, Rebecca Ganetzky, Peter G. Kranz, Neal Sondheimer, M. Louise Markert +92 more

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.012

N/A

0DataRank · unranked

8 citations

Rossella Venditti, Evangelos A. Theodorou, Lauren C. Briere, Marion Rosello, Alfonsina Tirozzi +94 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

Novel Development of Magnetic Resonance Imaging to Quantify the Structural Anatomic Growth of Diverse Organs in Adult and Mutant Zebrafish

Zebrafish(2023)10.1089/zeb.2023.0018

N/A

0DataRank · unranked

3 citations

Sergey Magnitsky, Emily Reesey, Mitchell S. Schwartz, Suraiya Haroon, Manuela Lavorato +7 more

Multiple independent gene disorders causing Bardet--Biedl syndrome, congenital hypothyroidism, and hearing loss in a single Indian consanguineous patient

(2023)10.22541/au.167722036.60770586/v1

N/A

0DataRank · unranked

0 citations

Dong Li, Deborah Watson, Elizabeth M. McCormick, Lisa M. Elden, Thomas Aleman +4 more

Multiple Independent Gene Disorders Causing Bardet–Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient

Brain Sciences(2023)10.3390/brainsci13081210

N/A

0DataRank · unranked

0 citations

Dong Li, Deborah Watson, Elizabeth M. McCormick, Lisa M. Elden, T. S. Aleman +4 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

dldhcri3 zebrafish exhibit altered mitochondrial ultrastructure, morphology, and dysfunction partially rescued by probucol or thiamine

JCI Insight(2024)10.1172/jci.insight.178973

N/A

0DataRank · unranked

11 citations

Donna M. Iadarola, Cristina Remeş, Prabhjot Kaur, Chynna N. Broxton, Neal D. Mathew +6 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

0DataRank · unranked

9 citations

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

Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability

Proceedings of the National Academy of Sciences(2024)10.1073/pnas.2322582121

N/A

0DataRank · unranked

6 citations

Oguz Kanca, Rishi V. Shridharan, Paul C. Marcogliese, Benjamin Steger, Marie Morimoto +92 more

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

Genetics in Medicine(2024)10.1016/j.gim.2024.101174

N/A

0DataRank · unranked

4 citations

Kristhen N Atala, Yiming Zheng, Debdeep Dutta, Dorothy K. Grange, Wen‐Wen Lin +95 more

MMFP-Tableau: enabling precision mitochondrial medicine through integration, visualization, and analytics of clinical and research health system electronic data

JAMIA Open(2024)10.1093/jamiaopen/ooae134

N/A

0DataRank · unranked

4 citations

Laura E. MacMullen, Asif Chinwalla, Deanne Taylor, Rebecca Ganetzky, K. Stanley +4 more

MMFP-Tableau: Enabling Precision Mitochondrial Medicine through Integration, Visualization, and Analytics of Clinical and Research Health System Electronic Data

medRxiv(2024)10.1101/2024.01.03.24300791

N/A

0DataRank · unranked

1 citations

Laura E. MacMullen, Asif Chinwalla, Deanne Taylor, Rebecca Ganetzky, K. Stanley +4 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

N -Glycosylation of MRS2 balances aerobic and anaerobic energy production by reducing rapid mitochondrial Mg 2+ influx in conditions of high glucose or impaired respiratory chain function

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.07.09.602756

N/A

0DataRank · unranked

0 citations

Neal D. Mathew, Vernon Anderson, Marni J. Falk, Eiko Nakamaru‐Ogiso, Min Peng

Zebrafishology, study design guidelines for rigorous and reproducible data using zebrafish

Communications Biology(2025)10.1038/s42003-025-07496-z

N/A

0DataRank · unranked

19 citations

Priya Dubey, Han Lee, Dondra S. Bailey, Jennifer L. Anderson, Allison Jamieson-Lucy +9 more

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation

Human Mutation(2020)10.1002/humu.24107

N/A

0DataRank · unranked

190 citations

Marie T. Lott, Matthew C. Dulik, Li Shen, Marcella Attimonelli, Ornella Vitale +16 more

ndufs2 -/- zebrafish have impaired survival, neuromuscular activity, morphology, and one-carbon metabolism treatable with folic acid

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.07.16.664929

N/A

0DataRank · unranked

2 citations

Donna M. Iadarola, Neal D. Mathew, Kelsey Keith, Christoph Seiler, Sanghyeon Yu +7 more

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Genetics in Medicine(2020)10.1038/s41436-020-01027-3

N/A

0DataRank · unranked

49 citations

Kirsty McWalter, Heleen te Brinke, Lodewijk IJlst, Petra M. Mooijer, Jos P.N. Ruiter +95 more

Involvement of the Spinal Cord in Primary Mitochondrial Disorders: A Neuroimaging Mimicker of Inflammation and Ischemia in Children

American Journal of Neuroradiology(2020)10.3174/ajnr.a6910

N/A

0DataRank · unranked

14 citations

Amy Goldstein, Sara Reis Teixeira, Juan Sebastián Martín-Saavedra, Isabella Peixoto de Barcelos, Giulia Fadda +9 more

Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease

Clinics in Laboratory Medicine(2020)10.1016/j.cll.2020.02.002

N/A

0DataRank · unranked

14 citations

Elizabeth M. McCormick, Colleen Muraresku, Marni J. Falk, Xiaowu Gai, Li Shen

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Genetics in Medicine(2020)10.1038/s41436-020-00984-z

N/A

0DataRank · unranked

42 citations

Cecilia Esteves, Anna Bican, Rebecca C. Spillmann, Heidi Cope, Allyn McConkie‐Rosell +89 more

Marni J. Falk

Indexed papers

Top data-sharing exemplar

Papers