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OpenAlex Citation Counts

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OpenAlex is a bibliographic catalogue of scientific papers, authors and institutions accessible in open access mode, named after the Library of Alexandria. It's citation coverage is excellent and I hope you will find utility in this listing of citing articles!

If you click the article title, you'll navigate to the article, as listed in CrossRef. If you click the Open Access links, you'll navigate to the "best Open Access location". Clicking the citation count will open this listing for that article. Lastly at the bottom of the page, you'll find basic pagination options.

Requested Article:

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders
Roos van der Donk, Sandra Jansen, Janneke Schuurs-Hoeijmakers, et al.
Genetics in Medicine (2018) Vol. 21, Iss. 8, pp. 1719-1725
Open Access | Times Cited: 37

Showing 1-25 of 37 citing articles:

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
Tzung‐Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, et al.
Nature Genetics (2022) Vol. 54, Iss. 3, pp. 349-357
Open Access | Times Cited: 135
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders
Sónia Barbosa, Stephanie Greville‐Heygate, Maxime Bonnet, et al.
The American Journal of Human Genetics (2020) Vol. 106, Iss. 3, pp. 338-355
Open Access | Times Cited: 78
The Genetics of Intellectual Disability
Sandra Jansen, Lisenka E.L.M. Vissers, Bert B.A. de Vries
Brain Sciences (2023) Vol. 13, Iss. 2, pp. 231-231
Open Access | Times Cited: 35
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, et al.
Nature Genetics (2023) Vol. 55, Iss. 9, pp. 1598-1607
Open Access | Times Cited: 26
Improving Deep Facial Phenotyping for Ultra-rare Disorder Verification Using Model Ensembles
Alexander Hustinx, Fabio Hellmann, Ömer Sümer, et al.
2022 IEEE/CVF Winter Conference on Applications of Computer Vision (WACV) (2023)
Open Access | Times Cited: 23
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Dmitrijs Rots, Eric Chater‐Diehl, Alexander J.M. Dingemans, et al.
The American Journal of Human Genetics (2021) Vol. 108, Iss. 6, pp. 1053-1068
Open Access | Times Cited: 48
Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes
Tara N. Yankee, Sungryong Oh, Emma Wentworth Winchester, et al.
Nature Communications (2023) Vol. 14, Iss. 1
Open Access | Times Cited: 21
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
Illja J. Diets, Roos van der Donk, Kristina Baltrunaite, et al.
The American Journal of Human Genetics (2019) Vol. 104, Iss. 4, pp. 758-766
Open Access | Times Cited: 43
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals
Antje Kampmeier, Elsa Leitão, Ilaria Parenti, et al.
Frontiers in Cell and Developmental Biology (2023) Vol. 10
Open Access | Times Cited: 14
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses
Kelly Schoch, Queenie K.‐G. Tan, Nicholas Stong, et al.
Genetics in Medicine (2020) Vol. 22, Iss. 7, pp. 1269-1275
Open Access | Times Cited: 34
Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics
Christopher C.Y. Mak, Hannah Klinkhammer, Sanaa Choufani, et al.
EBioMedicine (2025) Vol. 115, pp. 105677-105677
Closed Access
A trivalent nucleosome interaction by PHIP/BRWD2 is disrupted in neurodevelopmental disorders and cancer
Marc A. Morgan, Irina K. Popova, Anup Vaidya, et al.
Genes & Development (2021) Vol. 35, Iss. 23-24, pp. 1642-1656
Open Access | Times Cited: 27
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON
Alexander J.M. Dingemans, Kim M. G. Truijen, Jung‐Hyun Kim, et al.
European Journal of Human Genetics (2021) Vol. 30, Iss. 3, pp. 271-281
Open Access | Times Cited: 26
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome
Jet van der Spek, Joery den Hoed, Lot Snijders Blok, et al.
Genetics in Medicine (2022) Vol. 24, Iss. 6, pp. 1283-1296
Open Access | Times Cited: 18
Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review
Jair Tenorio, Beatriz Morte, Julián Nevado, et al.
Genes (2021) Vol. 12, Iss. 5, pp. 738-738
Open Access | Times Cited: 18
Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families
Monica H. Wojcik, Siddharth Srivastava, Pankaj B. Agrawal, et al.
American Journal of Medical Genetics Part A (2023) Vol. 191, Iss. 7, pp. 1900-1910
Closed Access | Times Cited: 7
Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome
Alexander J.M. Dingemans, Diante E. Stremmelaar, Roos van der Donk, et al.
European Journal of Human Genetics (2021) Vol. 29, Iss. 9, pp. 1418-1423
Open Access | Times Cited: 13
Computer aided diagnosis of neurodevelopmental disorders and genetic syndromes based on facial images – A systematic literature review
Fábio Rosindo Daher de Barros, Cristina Ferreira da Silva, Gabriel C. Michelassi, et al.
Heliyon (2023) Vol. 9, Iss. 10, pp. e20517-e20517
Open Access | Times Cited: 5
Quantitative Structural Brain Magnetic Resonance Imaging Analyses: Methodological Overview and Application to Rett Syndrome
Tadashi Shiohama, Keita Tsujimura
Frontiers in Neuroscience (2022) Vol. 16
Open Access | Times Cited: 8
Computational facial analysis for rare Mendelian disorders
Tzung‐Chien Hsieh, Peter Krawitz
American Journal of Medical Genetics Part C Seminars in Medical Genetics (2023) Vol. 193, Iss. 3
Open Access | Times Cited: 4
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
Theresa Brunet, Kirsty McWalter, Katharina Mayerhanser, et al.
Genetics in Medicine (2020) Vol. 23, Iss. 2, pp. 384-395
Open Access | Times Cited: 11
Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome
Fabian Brand, Aswinkumar Vijayananth, Tzung‐Chien Hsieh, et al.
Human Mutation (2022) Vol. 43, Iss. 11, pp. 1659-1665
Open Access | Times Cited: 7
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria
Pleuntje J. van der Sluijs, Mariëlle Alders, Alexander J.M. Dingemans, et al.
Genes (2021) Vol. 12, Iss. 8, pp. 1275-1275
Open Access | Times Cited: 8
Integrative analysis of transcriptomics in human craniofacial development reveals novel candidate disease genes
Tara N. Yankee, Andrea Wilderman, Emma Wentworth Winchester, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2022)
Open Access | Times Cited: 6
PhenoScore: AI-based phenomics to quantify rare disease and genetic variation
Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, et al.
medRxiv (Cold Spring Harbor Laboratory) (2022)
Open Access | Times Cited: 5
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