Dorothy K. Grange

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 23 papers. Top paper: “Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATP Channel Mutations in Intact Cells”.

Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATP Channel Mutations in Intact Cells

Journal of Pharmacology and Experimental Therapeutics(2023)10.1124/jpet.123.001659

N/A

0.550DataRank · unranked

13 citations

Conor McClenaghan, Kenneth A. Matreyek, Dorothy K. Grange, Colin G. Nichols, Jian Gao

Kir6.1- and SUR2-dependent KATP overactivity disrupts intestinal motility in murine models of Cantú syndrome

JCI Insight(2020)10.1172/jci.insight.141443

N/A

0.500DataRank · unranked

27 citations

Helen L. Parker, Zili Xie, David Tyus, Maham Akbar Waheed, Zihan Yan +6 more

Effects of TP63 mutations on keratinocyte adhesion and migration

Experimental Dermatology(2023)10.1111/exd.14885

N/A

0.312DataRank · unranked

7 citations

Jessica A. Gugger, Saiphone Webb, Christina E. Sheldon, Shirley P. Parraga, G. Michael Lewitt +4 more

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.02.016

N/A

0.269DataRank · unranked

5 citations

Kaitlyn Kiernan, Erin Torti, Ethan Pavlovsky, Nicholas Tilton, Austin Sekula +35 more

Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108541

N/A

0.165DataRank · unranked

2 citations

Georgianne L. Arnold, Uta Lichter‐Konecki, Gerard T. Berry, Dorothy K. Grange, Cary O. Harding +8 more

Effects of TP63 Mutations on Keratinocyte Adhesion and Migration

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.05.04.539104

N/A

0.104DataRank · unranked

1 citations

Jessica A. Gugger, Saiphone Webb, Christina E. Sheldon, Shirley P. Parraga, G. Michael Lewitt +4 more

Behavioral and cognitive functioning in individuals with Cantú syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62348

N/A

0DataRank · unranked

6 citations

Lieke M. van den Heuvel, Kathleen S. Shields, Kristin P. Guilliams, Nine V.A.M. Knoers, Gijs van Haaften +3 more

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice

Nature Communications(2022)10.1038/s41467-022-31566-z

N/A

0DataRank · unranked

39 citations

Kyung Ah Han, Dongwook Kim, Gyubin Jang, Somayeh Bakhtiari, Dongseok Lim +35 more

Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63226

N/A

0DataRank · unranked

10 citations

Siddharth Srivastava, Pankaj B. Agrawal, Tuğçe B. Balcı, Bert Callewaert, Pier Luigi Calvo +35 more

Electrophysiology of human iPSC-derived vascular smooth muscle cells and cell autonomous consequences of Cantu Syndrome mutations

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.06.29.547088

N/A

0DataRank · unranked

1 citations

Conor McClenaghan, Kuo‐Chan Weng, Sarah Colijn, Amber N. Stratman, Carmen M. Halabi +4 more

Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features

Human Genetics(2024)10.1007/s00439-024-02708-8

N/A

0DataRank · unranked

2 citations

Jason R. McFadden, F. Graeme Frost, Thomas C. Markello, Dorothy K. Grange, Wendy J. Introne +3 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

A novel ABCC9 variant in a Greek family with Cantu syndrome affecting multiple generations highlights the functional role of the SUR2B NBD1

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63815

N/A

0DataRank · unranked

2 citations

Athina Ververi, Ellen J. Thompson, Rob Tryon, Alexandros Sotiriadis, Fotios Rouvalis +4 more

Electrophysiology of Human iPSC-derived Vascular Smooth Muscle Cells and Cell-autonomous Consequences of Cantú Syndrome Mutations

Function(2024)10.1093/function/zqae027

N/A

0DataRank · unranked

0 citations

Conor McClenaghan, Kuo‐Chan Weng, Sarah Colijn, Amber N. Stratman, Carmen M. Halabi +4 more

Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1‐related RASopathy

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63854

N/A

0DataRank · unranked

0 citations

Daniel Wegner, Jennifer Wambach, Kathleen Sisco, Stephen Stone, Jonathan H. Sheehan +6 more

Phenylketonuria in adults: we know plenty, but there is much more to learn

American Journal of Clinical Nutrition(2025)10.1016/j.ajcnut.2024.12.024

N/A

0DataRank · unranked

2 citations

Georgianne L. Arnold, Gerard T Berry, Shawn E. Christ, Dorothy K. Grange, Elaina Jurecki +10 more

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.018

N/A

0DataRank · unranked

93 citations

Luca Pannone, Francesca Pantaleoni, Gianfranco Bocchinfuso, Francesca Clementina Radio, Serena Cecchetti +45 more

A clinical and genotype-phenotype analysis of MACF1 variants

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.010

N/A

0DataRank · unranked

1 citations

Rachel Schot, Kimberly A. Aldinger, David B. Everman, Camerun Washington, Julie R. Jones +85 more

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

European Journal of Human Genetics(2020)10.1038/s41431-020-0571-6

N/A

0DataRank · unranked

38 citations

Sophie Nambot, Laurence Faivre, Ghayda Mirzaa, Julien Thévenon, Ange‐Line Bruel +60 more

Phenotypic expansion of KMT2D‐related disorder: Beyond Kabuki syndrome

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61518

N/A

0DataRank · unranked

37 citations

Rebecca C. Spillmann, Daniel Wegner, Jennifer Wambach, Frances V. White, Kathleen Sisco +6 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

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

Continuous Renal Replacement Therapy for Two Neonates With Hyperammonemia

Frontiers in Pediatrics(2021)10.3389/fped.2021.732354

N/A

0DataRank · unranked

7 citations

Caroline Williams, Cory T. Miller, Dorothy K. Grange, T. Keefe Davis, Kenneth E. Remy +1 more