Ellen F. Macnamara

National Human Genome Research Institute

Also affiliated with Office of the Director

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 34 papers. Top paper: “Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment”.

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

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

0.292DataRank · unranked

6 citations

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

Domain specific phenotypic expansion associated with variants in MACF1

medRxiv(2025)10.1101/2025.06.26.25330137

N/A

0.104DataRank · unranked

1 citations

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

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

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

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

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

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

Brain(2021)10.1093/brain/awab299

N/A

0DataRank · unranked

42 citations

Ban H. Edani, Simone Martinelli, Hana Hansíková, Erik A. Eklund, Caterina Caputi +45 more

Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA

Molecular Genetics and Metabolism(2021)10.1016/j.ymgme.2021.07.013

N/A

0DataRank · unranked

16 citations

Omar A. Itani, Sonia El Mouridi, Alice Leclercq-Blondel, Marie Gendrel, Ellen F. Macnamara +12 more

Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62245

N/A

0DataRank · unranked

28 citations

Carlos R. Ferreira, Catherine Groden, H Jeffrey Kim, Kelly King, Monique C. King +10 more

Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder

Scientific Reports(2022)10.1038/s41598-022-12789-y

N/A

0DataRank · unranked

23 citations

Audra A. Kramer, Sidharth Tyagi, Daniel F. Bennett, Cynthia J. Tifft, Precilla D’Souza +5 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

MYH2-associated myopathy caused by a novel splice-site variant

Neuromuscular Disorders(2022)10.1016/j.nmd.2022.12.014

N/A

0DataRank · unranked

8 citations

May Christine V. Malicdan, Ellen F. Macnamara, Tanya Lehky, Iren Horkayne‐Szakaly, Yan Huang +6 more

Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome

Brain(2022)10.1093/brain/awac357

N/A

0DataRank · unranked

3 citations

Thomas B. Nutman, Tory P. Johnson, Scott F. Dowell, James J. Sejvar, Michael R. Wilson +28 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

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

Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy

Molecular Genetics and Metabolism Reports(2023)10.1016/j.ymgmr.2023.100990

N/A

0DataRank · unranked

16 citations

Christina Deanne P. Tolete, Yan Huang, Ellen F. Macnamara, David Sept, Galina Nesterova +4 more

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.001

N/A

0DataRank · unranked

13 citations

Marie Morimoto, Prashant Sharma, Lyse Ruaud, Newell Belnap, Daniel G. Calame +33 more

Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107707

N/A

0DataRank · unranked

1 citations

Amelia J. Loydpierson, Yvonne L. Latour, Precilla D’Souza, Jennifer L. Murphy, Lynne A. Wolfe +14 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

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

Parental Uncertainty About a Child’s Health Scale (PUCHS): Development and Validation of a Novel Measure

Georgetown Medical Review(2023)10.52504/001c.68103

N/A

0DataRank · unranked

0 citations

Samuel W. Woolford, Ellen F. Macnamara, Tatiane Yanes, Kyle B. Brothers, Paul K. J. Han +5 more

Genetic counseling for congenital disorders of glycosylation (CDG)

Journal of Genetic Counseling(2024)10.1002/jgc4.1856

N/A

0DataRank · unranked

6 citations

Lynne A. Wolfe, Ellen F. Macnamara, Tara Weixel

Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies

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

The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects

Orphanet Journal of Rare Diseases(2024)10.1186/s13023-024-03083-3

N/A

0DataRank · unranked

5 citations

Francine Molay, Sarah Hargadon, Cláudia Brito Pires, Natalie Grant, Lizbeth De La Rosa Abreu +10 more

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

medRxiv(2024)10.1101/2024.04.07.24305438

N/A

0DataRank · unranked

10 citations

Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl +92 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

RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109105

N/A

0DataRank · unranked

3 citations

Thomas Cassini, Jiayu Fu, Barbara N. Pusey, Ellen F. Macnamara, F. Graeme Frost +7 more

Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program

American Journal of Medical Genetics Part B Neuropsychiatric Genetics(2025)10.1002/ajmg.b.33047

N/A

0DataRank · unranked

1 citations

Audrey Thurm, Lisa Joseph, Maria T. Acosta, Ellen F. Macnamara, Colby Chlebowski +15 more

An atypical presentation of infiltrative diffuse low-grade glioma in an adolescent: case report

BMC Neurology(2025)10.1186/s12883-025-04259-5

N/A

0DataRank · unranked

0 citations

Daniel Benavides, Connor Lewis, Gilbert Vézina, Lynne A. Wolfe, Ellen F. Macnamara +10 more

Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)

Genetics in Medicine(2020)10.1038/s41436-020-00983-0

N/A

0DataRank · unranked

90 citations

Mary E. Hackbarth, Shira G. Ziegler, Kristen S. Pan, Mary Scott Roberts, Douglas R. Rosing +18 more

BK channel activity in skin fibroblasts from patients with neurological disorder

Channels(2025)10.1080/19336950.2025.2542811

N/A

0DataRank · unranked

0 citations

Thomas R. Middendorf, Deborah DiSilvestre, David R. Adams, William A. Gahl, Ellen F. Macnamara +5 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

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