Undiagnosed Diseases Network

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

4.2Author DataRank

Indexed papers

5in 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 5 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.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

Orphanet Journal of Rare Diseases(2021)10.1186/s13023-021-01839-9

Top 9%

2.3DataRank

Top 9%84 citations

Dustin Baldridge, Michael F. Wangler, Angela N. Bowman, Shinya Yamamoto, Tim Schedl +7 more

Papers

Driven by 139 papers — median percentile 64. Top paper: “Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision”.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

Orphanet Journal of Rare Diseases(2021)10.1186/s13023-021-01839-9

Top 9%

2.3DataRank

Top 9%84 citations

Dustin Baldridge, Michael F. Wangler, Angela N. Bowman, Shinya Yamamoto, Tim Schedl +7 more

Finding commonalities in rare diseases through the undiagnosed diseases network

Journal of the American Medical Informatics Association(2021)10.1093/jamia/ocab050

Top 28%

0.715DataRank

Top 28%8 citations

Alba Gutiérrez‐Sacristán, Vianney Jouhet, Kimberly LeBlanc, Cecilia Esteves, Undiagnosed Diseases Network +8 more

Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network

Orphanet Journal of Rare Diseases(2021)10.1186/s13023-021-01825-1

Top 36%

0.534DataRank

Top 36%4 citations

Emily Glanton, Anna Nagy, Jorick Bater, Tala Berro, Molly McGuinness +4 more

Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease

Genome Research(2025)10.1101/gr.279323.124

N/A

0.425DataRank · unranked

11 citations

Bohan Ni, Chloe Reuter, John E. Gorzynski, Sarah Fazal, Devon Bonner +13 more

Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63904

Top 51%

0.340DataRank

Top 51%7 citations

Rory J. Tinker, Stephanie Bivona, Carson Smith, Theodore Krijnse Locker, Samuela A. Fernandes +7 more

Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63888

Top 52%

0.338DataRank

Top 52%7 citations

Rory J. Tinker, Yutaka Furuta, Undiagnosed Diseases Network, John A. Phillips, Alex F. Gimeno

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

Molecular Genetics & Genomic Medicine(2020)10.1002/mgg3.1397

N/A

0DataRank · unranked

25 citations

Rebecca C. Spillmann, Jill A. Rosenfeld, Elly Brokamp, Rebecca Signer, Kelly Schoch +17 more

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

European Journal of Human Genetics(2020)10.1038/s41431-020-00717-5

N/A

0DataRank · unranked

18 citations

Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang +42 more

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

Molecular Genetics & Genomic Medicine(2020)10.1002/mgg3.1544

N/A

0DataRank · unranked

15 citations

Ellen F. Macnamara, Precilla D’Souza, John Yang, Gilbert Vézina, Undiagnosed Diseases Network +5 more

A fish with no sex: gonadal and adrenal functions partition between zebrafishNR5A1co-orthologs

Genetics(2020)10.1093/genetics/iyaa030

N/A

0DataRank · unranked

14 citations

Tom A. Titus, Thomas Desvignes, Ruth Bremiller, Peter Batzel, Jason Sydes +12 more

Novel NUDT2 variant causes intellectual disability and polyneuropathy

Annals of Clinical and Translational Neurology(2020)10.1002/acn3.51209

N/A

0DataRank · unranked

10 citations

Shaweta Khosa, Dmitriy Niyazov, Hane Lee, Richard Person, Michelle M. Morrow +14 more

Mutations in GET4 disrupt the transmembrane domain recognition complex pathway

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12249

N/A

0DataRank · unranked

9 citations

Bobby G. Ng, Shino Shimada, Lynne A. Wolfe, David R. Adams, Undiagnosed Diseases Network +6 more

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment

Human Molecular Genetics(2020)10.1093/hmg/ddaa081

N/A

0DataRank · unranked

41 citations

Lauren C. Briere, Oguz Kanca, Paul C. Marcogliese, Melissa Walker, Frances A. High +13 more

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12278

N/A

0DataRank · unranked

28 citations

Thi Tuyet Mai Nguyen, Jessica L. Zambonin, Kristin D. Kernohan, Anik St‐Denis, Nissan Baratang +20 more

Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice

Journal of Genetic Counseling(2020)10.1002/jgc4.1329

N/A

0DataRank · unranked

7 citations

Emily Glanton, Undiagnosed Diseases Network, Janet S. Sinsheimer, Christina G.S. Palmer, Kimberly LeBlanc +1 more

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

eScholarship (California Digital Library)(2020)10.17615/tv0q-me94

N/A

0DataRank · unranked

52 citations

Eva Van Braeckel, M. Migaud, J. Nammour, J. Amourette, D. Boutboul +55 more

Regulation of human development by ubiquitin chain editing of chromatin remodelers

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.01.23.917450

N/A

0DataRank · unranked

3 citations

Mohammed A. Basar, Anthony J. Asmar, Joyce J. Thompson, Hirotsugu Oda, Daniela Tiaki Uehara +24 more

Pathogenic SPTBN1 variants cause a novel autosomal dominant neurodevelopmental syndrome

medRxiv(2020)10.1101/2020.08.31.20184481

N/A

0DataRank · unranked

3 citations

Keith A. Breau, Blake A. Creighton, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu +63 more

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder,apraxia, and insensitivity to pain

medRxiv(2020)10.1101/2020.09.10.20190314

N/A

0DataRank · unranked

1 citations

Georgi Stoyanov, Florian Erger, Jill A. Rosenfeld, Erin Torti, Chad Haldeman‐Englert +18 more

Recurrent respiratory viral diseases and chronic sequelae due to dominant negative IFIH1

medRxiv(2020)10.1101/2020.07.01.20105379

N/A

0DataRank · unranked

0 citations

Timothy J. Thauland, Rebecca Signer, Stanley F. Nelson, Undiagnosed Diseases Network, Hane Lee +2 more

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Nature Genetics(2021)10.1038/s41588-021-00886-z

N/A

0DataRank · unranked

108 citations

Blake A. Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu +70 more

Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics

Nature Genetics(2021)10.1038/s41588-021-00800-7

N/A

0DataRank · unranked

75 citations

Craig Smail, Michael J. Gloudemans, Laure Frésard, David Jakubosky, Matteo D’Antonio +22 more

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

Science Advances(2021)10.1126/sciadv.abe2116

N/A

0DataRank · unranked

50 citations

Mohammed A. Basar, Anthony J. Asmar, Joyce J. Thompson, Hirotsugu Oda, Daniela Tiaki Uehara +28 more

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

Human Genetics(2021)10.1007/s00439-021-02283-2

N/A

0DataRank · unranked

36 citations

Daphné Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person +40 more

Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome

Journal of Allergy and Clinical Immunology(2021)10.1016/j.jaci.2021.02.044

N/A

0DataRank · unranked

33 citations

Diane B. Zastrow, Riley D. Metcalfe, Lisa Gartner, Freia Krause, Craig J. Morton +23 more

Variable clinical severity in TANGO2 deficiency: Case series and literature review

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62543

N/A

0DataRank · unranked

33 citations

Peter Leahy, Tina M. Cowan, Maura Ruzhnikov, Ryan Gates, Liliana Fernández +8 more

Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features

Human Molecular Genetics(2021)10.1093/hmg/ddab110

N/A

0DataRank · unranked

29 citations

Kelly Schoch, Sharayu Jangam, Venkata Hemanjani Bhavana, Hillary K. Graves, Sujay Kansagra +11 more

Heterozygous variants in SPTBN1 cause intellectual disability and autism

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62201

N/A

0DataRank · unranked

28 citations

Rui Xiao, Mir Reza Bekheirnia, Farah Kanani, Michael Parker, Mary Kay Koenig +17 more

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62347

N/A

0DataRank · unranked

20 citations

Alejandro Ferrer, Carla Nishimura, Filippo Pinto e Vairo, Tristan Rey, Bruno Leheup +27 more

Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey

Molecular Genetics & Genomic Medicine(2021)10.1002/mgg3.1665

N/A

0DataRank · unranked

18 citations

Hayk Barseghyan, Surajit Bhattacharya, Yulong Fu, Nicole L. Hoppman, Cherisse A. Marcou +8 more

A novel de novo intronic variant in ITPR1 causes Gillespie syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62232

N/A

0DataRank · unranked

17 citations

Ming‐Ming Jiang, Xiaohui Li, Ronit Marom, Hongzheng Dai, David R. Murdock +16 more

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Human Mutation(2021)10.1002/humu.24308

N/A

0DataRank · unranked

20 citations

Amanda M. Levy, Jaya Punetha, Hua Gao, Nicholas Ah Mew, Kwame Anyane Yeboa +54 more

Expansion of NEUROD2 phenotypes to include developmental delay without seizures

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62064

N/A

0DataRank · unranked

11 citations

Annalisa G. Sega, Rebecca Signer, Tracy Cartwright, Weizhen Ji, Julián A. Martínez-Agosto +12 more

Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation

Journal of Genetic Counseling(2021)10.1002/jgc4.1493

N/A

0DataRank · unranked

5 citations

Emily Glanton, Brenna Boyd, Catherine H. Sillari, Shruti Marwaha, Undiagnosed Diseases Network +2 more

A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy

Molecular Case Studies(2021)10.1101/mcs.a005827

N/A

0DataRank · unranked

30 citations

Melissa Walker, Frances A. High, Cynthia A. Cooper, Cassandra A. Rogers, Christine J. Callahan +14 more

ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.09.30.462504

N/A

0DataRank · unranked

3 citations

Lucian Li, Sanja Rogić, Guillaume Poirier‐Morency, Seon-Young Kim, Undiagnosed Diseases Network +8 more

Erratum to: A fish with no sex: gonadal and adrenal functions partition between zebrafish NR5A1 co-orthologs

Genetics(2021)10.1093/genetics/iyab051

N/A

0DataRank · unranked

0 citations

Tom A. Titus, Thomas Desvignes, Ruth Bremiller, Peter Batzel, Jason Sydes +12 more

Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62619

N/A

0DataRank · unranked

41 citations

Jennifer L. Young, Liliana Fernández, Jennefer N. Kohler, Undiagnosed Diseases Network, Jonathan A. Bernstein +3 more

Loss-of-function variants inMYCBP2cause neurobehavioural phenotypes and corpus callosum defects

Brain(2022)10.1093/brain/awac364

N/A

0DataRank · unranked

39 citations

Muriel Desbois, Domnița-Valeria Rusnac, Raashda A. Sulaiman, Jill A. Rosenfeld, Seema R. Lalani +23 more

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

Brain(2022)10.1093/brain/awac145

N/A

0DataRank · unranked

36 citations

Davide Mei, Katalin Kerti‐Szigeti, Sara Pepe, Mary Kay Koenig, Gretchen Von Allmen +48 more

A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C

Proceedings of the National Academy of Sciences(2022)10.1073/pnas.2105228119

N/A

0DataRank · unranked

31 citations

Jiehong Pan, David R. Spielberg, Neil A. Hanchard, Daryl A. Scott, Lindsay C. Burrage +21 more

PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.01.103

N/A

0DataRank · unranked

21 citations

Andrew C. Kim, Karolyn Garcia, Lisa A. Schimmenti, Ellen F. Macnamara, Undiagnosed Diseases Network +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

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families

Journal of Inherited Metabolic Disease(2022)10.1002/jimd.12526

N/A

0DataRank · unranked

17 citations

Gaëlle Friocourt, Naïg Guéguen, Marisa W. Friederich, Gérald Le Gac, Volkan Okur +34 more

Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation

Human Molecular Genetics(2022)10.1093/hmg/ddac173

N/A

0DataRank · unranked

13 citations

Matt C. Danzi, André B. P. Kuilenburg, Selina Reich, Andreas Traschütz, Benjamin Bender +13 more

ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research

Human Mutation(2022)10.1002/humu.24364

N/A

0DataRank · unranked

15 citations

Lucian Li, Sanja Rogić, Guillaume Poirier‐Morency, Seon-Young Kim, Undiagnosed Diseases Network +8 more

A novel, de novo intronic variant in POGZ causes White–Sutton syndrome

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62747

N/A

0DataRank · unranked

9 citations

David R. Murdock, Jill A. Rosenfeld, Hongzheng Dai, Shamika Ketkar, Lisa Emrick +10 more

PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62704

N/A

0DataRank · unranked

4 citations

David R. Murdock, Lindsay C. Burrage, Hongzheng Dai, Seema R. Lalani, Richard A. Lewis +10 more

A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay

Human Mutation(2022)10.1002/humu.24497

N/A

0DataRank · unranked

6 citations

Wenmiao Zhu, Bo Yuan, Nicole Walley, Kelly Schoch, Yong‐hui Jiang +10 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

AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease

Journal of Biomedical Informatics(2022)10.1016/j.jbi.2022.104174

N/A

0DataRank · unranked

2 citations

D. Etin, S I Trifonov, Viktoria Evdokimova, V. Ulitin, Jun Shen +15 more

Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants

medRxiv(2022)10.1101/2022.02.01.21268115

N/A

0DataRank · unranked

1 citations

Thomas Cassini, Ningning Hu, Tao Yang, Bian Li, Wangzhen Shen +14 more

Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.02.02.478908

N/A

0DataRank · unranked

0 citations

Jill A. Rosenfeld, Lindsay C. Burrage, Lisa Emrick, Seema R. Lalani, Ruben Attali +8 more

Simulation of undiagnosed patients with novel genetic conditions

medRxiv(2022)10.1101/2022.08.22.22279073

N/A

0DataRank · unranked

0 citations

Samuel G. Finlayson, Michelle M. Li, Undiagnosed Diseases Network, Shilpa N. Kobren, Isaac S. Kohane +1 more

Loss of symmetric cell division of apical neural progenitors drives DENND5A -related developmental and epileptic encephalopathy

medRxiv(2022)10.1101/2022.08.23.22278845

N/A

0DataRank · unranked

0 citations

Vincent Francis, Sheng‐Jia Lin, Fares Kharfallah, Vladimir S. Fonov, Maxime Levesque +80 more

De Novo Variants in MRTFB have gain of function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.12.06.518921

N/A

0DataRank · unranked

0 citations

Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia J. Tifft, Ellen F. Macnamara +9 more

A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels

Nature Metabolism(2023)10.1038/s42255-023-00873-0

N/A

0DataRank · unranked

27 citations

Oguz Kanca, Seul Kee Byeon, Paul C. Marcogliese, Zhongyuan Zuo, Rishi V. Shridharan +11 more

The contribution of mosaicism to genetic diseases and de novo pathogenic variants

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63309

N/A

0DataRank · unranked

19 citations

Lisa Bastarache, Kimberly Ezell, Shilpa N. Kobren, Cecilia Esteves, Jill A. Rosenfeld +10 more

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

European Journal of Human Genetics(2023)10.1038/s41431-023-01434-5

N/A

0DataRank · unranked

25 citations

Leticia S. Matsuoka, Michael March, Dong Li, Elly Brokamp, Sara Benito‐Sanz +32 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

0DataRank · unranked

18 citations

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

Unraveling non‐participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors

Journal of Genetic Counseling(2023)10.1002/jgc4.1707

N/A

0DataRank · unranked

13 citations

Rebecca C. Spillmann, Kelly Schoch, Jennifer A. Sullivan, Nicole Walley, Marie McDonald +4 more

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay

Journal of Medical Genetics(2023)10.1136/jmg-2022-109127

N/A

0DataRank · unranked

12 citations

Maryam Vaseghi‐Shanjani, Jill A. Rosenfeld, Gui Xiang Yang, Henry Y. Lu, Mehul Sharma +23 more

Simulation of undiagnosed patients with novel genetic conditions

Nature Communications(2023)10.1038/s41467-023-41980-6

N/A

0DataRank · unranked

10 citations

Samuel G. Finlayson, Michelle M. Li, Undiagnosed Diseases Network, Shilpa N. Kobren, Isaac S. Kohane +1 more

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster

Genetics(2023)10.1093/genetics/iyad110

N/A

0DataRank · unranked

12 citations

Lauren C. Briere, Kristy L. Jay, Jonathan C. Andrews, Melissa Walker, Lance H. Rodan +6 more

Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling

PLoS Genetics(2023)10.1371/journal.pgen.1011005

N/A

0DataRank · unranked

12 citations

Bo Zhang, Megan Washington, I-Wen Song, Lindsay C. Burrage, Vittoria Rossi +28 more

Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1

Orphanet Journal of Rare Diseases(2023)10.1186/s13023-023-02891-3

N/A

0DataRank · unranked

5 citations

Allyn McConkie‐Rosell, Nicole Walley, Vikas Bhambhani, Timothy Feyma, Undiagnosed Diseases Network +5 more

A humanized Caenorhabditis elegans model of hereditary spastic paraplegia-associated variants in KLC4

Disease Models & Mechanisms(2023)10.1242/dmm.050076

N/A

0DataRank · unranked

6 citations

Lauren Resch, Trisha Brock, Undiagnosed Diseases Network, G. W. Gant Luxton, Heidi Cope +4 more

H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63193

N/A

0DataRank · unranked

4 citations

Paulo Borjas‐Mendoza, Stephanie Bivona, LéShon Peart, Joanna Gonzalez, Brittney Keira Johnson +6 more

De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63399

N/A

0DataRank · unranked

4 citations

Alexandrea Wadley, Chun-Hui Tsai, Paul J. Benke, Lisa Emrick, Kristen Fisher +15 more

Macrocephaly and developmental delay caused by missense variants in RAB5C

Human Molecular Genetics(2023)10.1093/hmg/ddad130

N/A

0DataRank · unranked

4 citations

Weimin Yuan, Federico Tessadori, Wilmer R. Rodriguez-Polanco, Jeremy J. Grubbs, Bo Zhang +94 more

Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus

medRxiv(2023)10.1101/2023.12.21.23300383

N/A

0DataRank · unranked

4 citations

Clarrisa A. Bradley, Jennifer Howe, Brett Trost, Nelson Bautista Salazar, Carole Shum +22 more

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy

medRxiv(2023)10.1101/2023.03.27.23287689

N/A

0DataRank · unranked

3 citations

Sydney L. Michener, Hongling Pan, Jessica M. Pfliger, Jill A. Rosenfeld, Vanesa Lerma +40 more

A humanized Caenorhabditis elegans model of Hereditary Spastic Paraplegia-associated variants in kinesin light chain KLC4

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.01.07.523106

N/A

0DataRank · unranked

2 citations

Lauren Resch, Trisha Brock, Undiagnosed Diseases Network, G. W. Gant Luxton, Queenie K-G Tan +3 more

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

medRxiv(2023)10.1101/2023.10.11.23296741

N/A

0DataRank · unranked

1 citations

Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy Schneider +48 more

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster

medRxiv(2023)10.1101/2023.01.31.23285113

N/A

0DataRank · unranked

0 citations

Lauren C. Briere, Kristy Jay, Jonathan C. Andrews, Melissa Walker, Lance H. Rodan +6 more

A Case Study of Dysfunctional Nicotinamide Metabolism in a 20-Year-Old Male

Metabolites(2023)10.3390/metabo13030399

N/A

0DataRank · unranked

0 citations

John H. Newman, Laura Sommerville, John A. Phillips, Rizwan Hamid, Joy D. Cogan +5 more

Case report: ocular manifestations of a gain-of-function mutation in CLCN6 , a newly diagnosed disease

Ophthalmic Genetics(2023)10.1080/13816810.2023.2291683

N/A

0DataRank · unranked

0 citations

Sameera Nadimpalli, Sudhi P. Kurup, F. Sessions Cole, Russell Huang, Kathleen Sisco +7 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

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

Nature Communications(2024)10.1038/s41467-024-50159-6

N/A

0DataRank · unranked

24 citations

Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy Schneider +50 more

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Nature Communications(2024)10.1038/s41467-024-52095-x

N/A

0DataRank · unranked

9 citations

Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Weimin Yuan +53 more

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Human Genetics(2024)10.1007/s00439-024-02657-2

N/A

0DataRank · unranked

6 citations

Elizabeth A. Burke, Sukyeong Lee, Tanya N. Eble, Melanie O’Leary, Ikeoluwa Osei‐Owusu +18 more

Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63627

N/A

0DataRank · unranked

2 citations

Jennefer Carter, Luca Pannone, David A. Stevenson, Dorsa Moslehi, Serenella Venanzi +5 more

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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

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

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Nature Communications(2024)10.1038/s41467-024-51310-z

N/A

0DataRank · unranked

5 citations

Vincent Francis, Sheng‐Jia Lin, Fares Kharfallah, Vladimir S. Fonov, Maxime Lévesque +80 more

EFEMP1 haploinsufficiency causes a Marfan‐like hereditary connective tissue disorder

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63556

N/A

0DataRank · unranked

6 citations

Steven Lang, Matthew J. Rodier, Stephanie Bivona, Undiagnosed Diseases Network, Alejo A. Morales +4 more

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JIMD Reports(2024)10.1002/jmd2.12459

N/A

0DataRank · unranked

4 citations

Sarah Silverstein, Molly Behan, Cynthia J. Tifft, May Christine V. Malicdan, David R. Adams +4 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

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Annals of Clinical and Translational Neurology(2024)10.1002/acn3.51963

N/A

0DataRank · unranked

3 citations

Güney Bademci, Stephan Züchner, Médéric Jeanne, Nicholas A. Borja, Danique Beijer +8 more

Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon‐level Array, and RNA sequencing

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63516

N/A

0DataRank · unranked

2 citations

Nicola Longo, Robert G. Lewis, Thomas J. Nicholas, Steven E. Boyden, Ashley Andrews +6 more

KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3

Journal of Medical Genetics(2024)10.1136/jmg-2024-109908

N/A

0DataRank · unranked

2 citations

Mohammad Faraz Zafeer, Stephanie Bivona, LéShon Peart, Sakir H. Gultekin, Undiagnosed Diseases Network +3 more

A second hotspot for pathogenic exon-skipping variants in CDC45

European Journal of Human Genetics(2024)10.1038/s41431-024-01583-1

N/A

0DataRank · unranked

2 citations

Mischa S. G. Ruegg, Bridget J. Fellows, Joseph Cao, Sabine Uhrig, Stephanie Einsele‐Scholz +10 more

Recessive loss‐of‐function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine–Lubinsky syndrome

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63845

N/A

0DataRank · unranked

1 citations

Undiagnosed Diseases Network, Lisa Emrick, Jill A. Rosenfeld, Shamika Ketkar, Lindsay C. Burrage +2 more

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Genome Research(2024)10.1101/gr.279346.124

N/A

0DataRank · unranked

13 citations

Jesper Eisfeldt, Jesse D. Bengtsson, Ming Yin Lun, Christopher M. Grochowski, Medhat Mahmoud +17 more

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medRxiv(2024)10.1101/2024.03.22.24304565

N/A

0DataRank · unranked

5 citations

Bohan Ni, Chloe Reuter, John E. Gorzynski, Sarah Fazal, Devon Bonner +13 more

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.02.13.580158

N/A

0DataRank · unranked

3 citations

Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum +14 more

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bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.02.06.578086

N/A

0DataRank · unranked

2 citations

Kristy Jay, Alden Y. Huang, Jijun Wan, Sharayu Jangam, Odelia Chorin +23 more

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function

eLife(2024)10.7554/elife.95887

N/A

0DataRank · unranked

2 citations

Yiming Zheng, Mingxi Deng, Shenzhao Lu, Xueyang Pan, Xi Luo +25 more

Clinical validation of RNA sequencing for Mendelian disorder diagnostics

medRxiv(2024)10.1101/2024.08.15.24312057

N/A

0DataRank · unranked

2 citations

Kristina Macakova, Jefferson Sinson, Hongzheng Dai, Jill A. Rosenfeld, Gladys Zapata +10 more

Phenotypic overlap between rare disease patients and variant carriers in a large population cohort informs biological mechanisms

medRxiv(2024)10.1101/2024.04.18.24305861

N/A

0DataRank · unranked

1 citations

Undiagnosed Diseases Network, Brett K. Beaulieu‐Jones, Shilpa N. Kobren, Lane Fitzsimmons

Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions

medRxiv(2024)10.1101/2024.04.22.24305780

N/A

0DataRank · unranked

1 citations

Jesper Eisfeldt, Jesse D. Bengtsson, Ming Yin Lun, Christopher M. Grochowski, Medhat Mahmoud +14 more

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function

medRxiv(2024)10.1101/2024.01.08.23300523

N/A

0DataRank · unranked

0 citations

Yiming Zheng, Mingxi Deng, Shenzhao Lu, Xueyang Pan, Xi Luo +25 more

Impact of genome build on RNA-seq interpretation and diagnostics

medRxiv(2024)10.1101/2024.01.11.24301165

N/A

0DataRank · unranked

0 citations

Pagé C. Goddard, Tanner Jensen, Fabien Degalez, Kevin S. Smith, Christopher Jin +6 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

VarPPUD: Variant post prioritization developed for undiagnosed genetic disorders

medRxiv(2024)10.1101/2024.04.15.24305876

N/A

0DataRank · unranked

0 citations

Alba Gutiérrez‐Sacristán, Undiagnosed Diseases Network, Shilpa N. Kobren, Paul Avillach, Rui Yin

Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63798

N/A

0DataRank · unranked

0 citations

Kelly Schoch, Alden Huang, Hane Lee, Lee-kai Wang, Edward C. Smith +7 more

Resolution of SLC6A1 variable expressivity in a multi-generational family using deep clinical phenotyping and Drosophila models

medRxiv(2024)10.1101/2024.09.27.24314092

N/A

0DataRank · unranked

0 citations

Nikhita Gogate, Kim Ezell, Jonathan C. Andrews, Sharayu Jangam, Paige I. Hall +19 more

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American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63956

N/A

0DataRank · unranked

0 citations

Allyn McConkie‐Rosell, Rachel Mahoney, Rebecca C. Spillmann, Kelly Schoch, Sirisak Chanprasert +21 more

Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition

Nature Genetics(2025)10.1038/s41588-024-02067-0

N/A

0DataRank · unranked

34 citations

Jonas Korlach, Kiara C. Eldred, Elliott Swanson, Jason G. Underwood, Stephanie C. Bohaczuk +33 more

Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases

npj Digital Medicine(2025)10.1038/s41746-025-01749-1

N/A

0DataRank · unranked

28 citations

Michelle M. Li, Shilpa N. Kobren, Ayush Noori, Undiagnosed Diseases Network, Isaac S. Kohane +2 more

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

Genome Medicine(2025)10.1186/s13073-025-01546-1

N/A

0DataRank · unranked

8 citations

Shruti Marwaha, Alistair Ward, Shilpa N. Kobren, Jennefer N. Carter, Undiagnosed Diseases Network +94 more

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders

EMBO Molecular Medicine(2025)10.1038/s44321-025-00290-8

N/A

0DataRank · unranked

8 citations

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Journal of Inherited Metabolic Disease(2025)10.1002/jimd.70053

N/A

0DataRank · unranked

5 citations

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Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Nature Communications(2025)10.1038/s41467-025-61712-2

N/A

0DataRank · unranked

5 citations

Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum +95 more

RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases

BMC Medical Genomics(2025)10.1186/s12920-025-02227-z

N/A

0DataRank · unranked

4 citations

John M. O’Shea, Lucilla Pizzo, Ting Wen, Makenzie Fulmer, Jian Zhao +20 more

Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

BioData Mining(2025)10.1186/s13040-024-00418-5

N/A

0DataRank · unranked

1 citations

Undiagnosed Diseases Network, Maria T. Acosta, David R. Adams, Ben Afzali, Ali Al-Beshri +95 more

Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64233

N/A

0DataRank · unranked

1 citations

Kimberly Ezell, Deanna S. Bell, Brian Corner, Ashley McMinn, Joy D. Cogan +16 more

LONP1 Variants Are Associated With Clinically Diverse Phenotypes

Clinical Genetics(2025)10.1111/cge.70057

N/A

0DataRank · unranked

1 citations

Lu Qiao, Rebecca Hernan, David A. Sweetser, Jessica L. Waxler, Daryl A. Scott +34 more

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64242

N/A

0DataRank · unranked

1 citations

Gail E. Graham, Melissa T. Carter, Maria Kibæk, Christina Fagerberg, Martin J. Larsen +38 more

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

medRxiv(2025)10.1101/2025.08.26.25334179

N/A

0DataRank · unranked

10 citations

Rodrigo Mendez, Jonathan Lees, Mafalda Barbosa, Alessandro Bruselles, Luigi Chiriatti +17 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

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medRxiv(2025)10.1101/2025.03.31.25324695

N/A

0DataRank · unranked

2 citations

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An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

medRxiv(2025)10.1101/2025.04.18.25326061

N/A

0DataRank · unranked

2 citations

Shruti Marwaha, Alistair Ward, Shilpa N. Kobren, Jennefer N. Carter, Undiagnosed Diseases Network +3 more

The Utility of Ultra-Deep RNA sequencing in Mendelian Disorder Diagnostics

medRxiv(2025)10.1101/2025.01.28.25321295

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0DataRank · unranked

1 citations

Jefferson Sinson, Shenglan Li, Jill A. Rosenfeld, Gladys Zapata, Kristina Macakova +16 more

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medRxiv(2025)10.1101/2025.06.25.25330124

N/A

0DataRank · unranked

1 citations

Caspar I. van der Made, Sema Kalkan Uçar, Gayatri Ramakrishnan, Jill A. Rosenfeld, Tiphanie P. Vogel +17 more

Domain specific phenotypic expansion associated with variants in MACF1

medRxiv(2025)10.1101/2025.06.26.25330137

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0DataRank · unranked

1 citations

Angad Jolly, Jill A. Rosenfeld, Paulina Bahena-Carbajal, Jonathan A. Bernstein, Devon Bonner +27 more

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders

medRxiv(2025)10.1101/2025.07.08.25330848

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0DataRank · unranked

1 citations

Marisa W. Friederich, Daniella H. Hock, Jessie R. Zhang, Liana Valin, Jill A. Rosenfeld +35 more

MAJIQ-CLIN: A novel tool for the identification of Mendelian disease-causing variants from RNA-Seq data

medRxiv(2025)10.1101/2025.01.30.25321185

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0DataRank · unranked

0 citations

Dina Issakova, Barry Slaff, San Jewell, Nicholas F. Lahens, Gregory R. Grant +7 more

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American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64108

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0DataRank · unranked

0 citations

Jian Zhao, Steven E. Boyden, Rong Mao, Pınar Bayrak‐Toydemir, A. Pflaum +9 more

VarPPUD: Pinpointing diagnostic variants from sets of prioritized, strong candidate variants

PLoS Computational Biology(2025)10.1371/journal.pcbi.1013414

N/A

0DataRank · unranked

0 citations

Alba Gutiérrez‐Sacristán, Undiagnosed Diseases Network, Shilpa N. Kobren, Paul Avillach, Rui Yin

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

UNC Libraries(2025)10.17615/dy6f-xt03

N/A

0DataRank · unranked

0 citations

Benjamin Cogné, Rachel Rabin, E Kessler, Céline Chappé, Melanie Brügger +92 more

Response to “Is the UDN N-of-1 Enterprise Ethically Justifiable?”

The AMA Journal of Ethic(2025)10.1001/amajethics.2025.876

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0DataRank · unranked

0 citations

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Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

The Journal of Experimental Medicine(2020)10.1084/jem.20191804

N/A

0DataRank · unranked

113 citations

Simon J. Tavernier, Yin‐Huai Chen, S. Cindy, Marie Materna, Arian Laurence +55 more

Phenotypic expansion of CALM1/2 -associated disorders to include neurologic phenotypes without arrhythmia

Human Molecular Genetics(2025)10.1093/hmg/ddaf195

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0DataRank · unranked

0 citations

Rebecca C. Spillmann, David A. Wenger, Maria Giovanna Tedesco, Malene Brohus, Antonio Novelli +24 more

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Science Advances(2020)10.1126/sciadv.abc9207

N/A

0DataRank · unranked

99 citations

Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson +95 more

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Brain(2020)10.1093/brain/awaa204

N/A

0DataRank · unranked

59 citations

Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Mathias Woidy +95 more

yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development

PLoS Genetics(2020)10.1371/journal.pgen.1008841

N/A

0DataRank · unranked

22 citations

Aurélie Clément, Sarah J. Stednitz, Jennifer Kyle, Judy Peirce, Marcie McFadden +18 more

Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing

Neuropathology(2020)10.1111/neup.12641

N/A

0DataRank · unranked

10 citations

Négar Khanlou, Hane Lee, Rebecca Signer, Perry B. Shieh, Johnathan Chen +6 more

Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61962

N/A

0DataRank · unranked

10 citations

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