Marie McDonald

Also affiliated with Duke Medical Center

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 19 papers. Top paper: “Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses”.

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

Genetics in Medicine(2020)10.1038/s41436-020-0781-x

N/A

0.568DataRank · unranked

43 citations

Queenie K.‐G. Tan, Nicholas Stong, Kristen Deak, Allyn McConkie‐Rosell, Marie McDonald +4 more

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

Human Genetics and Genomics Advances(2021)10.1016/j.xhgg.2021.100074

N/A

0.557DataRank · unranked

40 citations

Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood +45 more

Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.04.011

N/A

0.241DataRank · unranked

4 citations

Sarah M. Ruggiero, Shiva Ganesan, Colin A. Ellis, Abiola Harrison, Katie Rose Sullivan +32 more

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.10.002

N/A

0DataRank · unranked

42 citations

Qiumeng Zhang, Rujia Dai, Bin Yu, Kendra Hoekzema, Jieqiong Tan +53 more

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

UNC Libraries(2020)10.17615/nh7z-zg10

N/A

0DataRank · unranked

1 citations

Kathryn F. Peters, Lewis B. Holmes, David J. Aughton, Laura Mazzanti, Kathleen A. Leppig +27 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

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

Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations

Epilepsy & Behavior(2021)10.1016/j.yebeh.2020.107732

N/A

0DataRank · unranked

28 citations

David M. Mueller, Milton Pratt, Melanie Bonner, Courtney Elliott, Arsen Hunanyan +9 more

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

Neurology(2022)10.1212/wnl.0000000000201492

N/A

0DataRank · unranked

24 citations

Lynette G. Sadleir, Matthew Zemel, Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Allyn McConkie‐Rosell +50 more

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

Neurology(2022)10.1212/wnl.0000000000200660

N/A

0DataRank · unranked

21 citations

Simone Seiffert, Manuela Pendziwiat, Annika Rademacher, Tobias Brünger, Ulrike B. S. Hedrich +43 more

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

medRxiv(2022)10.1101/2022.04.26.22274147

N/A

0DataRank · unranked

0 citations

Lynette G. Sadleir, Matthew Zemel, Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Allyn McConkie‐Rosell +49 more

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63247

N/A

0DataRank · unranked

41 citations

Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Audrey Lawrence +92 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

Novel association of Dandy–Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63363

N/A

0DataRank · unranked

11 citations

Lucia Guidugli, Monia Hammer, Chelsea Barrows, Anne Gregor, Sangmoon Lee +9 more

The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100288

N/A

0DataRank · unranked

3 citations

Samuel W Liu, Ludmila Francescatto, Alexander Behura, Mariele Anneling, David G. Jackson +8 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

Variants in BSN , encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range

medRxiv(2025)10.1101/2025.02.10.25321755

N/A

0DataRank · unranked

0 citations

Sarah M. Ruggiero, Shiva Ganesan, Colin A. Ellis, Abiola Harrison, Katie Rose Sullivan +34 more

Epileptic encephalopathy with features of rapid‐onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation

Epileptic Disorders(2020)10.1684/epd.2020.1127

N/A

0DataRank · unranked

9 citations

Jason Richards, Marie McDonald, Allyn McConkie‐Rosell, Nicholas Stong, Joan Jasien +3 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