PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone | Paper Citation Record

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This paper cites Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the irdirc diagnostics scientific committee.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the irdirc diagnostics scientific committee

Reference 1

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:41.451033Z

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Observation 23c0f429-e281-4d08-98b4-82d822562c3d · outbound

This paper cites The ensembl gene annotation system.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone The ensembl gene annotation system

Reference 2

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:41.252032Z

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Observation 3d32433f-7dc4-4b6d-85a4-60247b8acb0e · outbound

This paper cites Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases

Reference 3

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:40.957610Z

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Observation f06f730a-7be9-4172-9aec-ae68c4bb2b9d · outbound

This paper cites Simulation of undiagnosed patients with novel genetic conditions.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Simulation of undiagnosed patients with novel genetic conditions

Reference 4

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:40.764382Z

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Observation 7d9a1e3a-b255-45ef-9232-23e21f9f520d · outbound

This paper cites Personalised analytics for rare disease diagnostics.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Personalised analytics for rare disease diagnostics

Reference 5

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:40.599168Z

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Observation 12a2fb17-3859-4071-a817-88c8ab4b5def · outbound

This paper cites Layer Normalization.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Layer Normalization

Reference 6

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Observation 31ada3c2-d406-4518-8329-0a2483b11633 · outbound

This paper cites Amelie speeds mendelian diagnosis by matching patient phenotype and genotype to primary literature.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Amelie speeds mendelian diagnosis by matching patient phenotype and genotype to primary literature

Reference 7

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:40.323294Z

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Observation 09cfc3b2-32b2-48c2-8a65-1f93c3e1197d · outbound

This paper cites Rare-disease genetics in the era of next-generation sequencing: discovery to translation.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Rare-disease genetics in the era of next-generation sequencing: discovery to translation

Reference 8

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:40.107385Z

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Observation 65d3a42c-5a55-487d-a3fa-1dc5cb20298f · outbound

This paper cites How attentive are graph attention networks? In International Conference on Learning Representations, 2022.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone How attentive are graph attention networks? In International Conference on Learning Representations, 2022

Reference 9

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:39.870744Z

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No event found in the named queried sources as of 2026-08-23T06:30:58.430688+00:00.

Observation e414219a-2515-45a4-8d3b-a13a0df9becd · outbound

This paper cites Building a knowledge graph to enable precision medicine.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Building a knowledge graph to enable precision medicine

Reference 10

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:39.574303Z

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No event found in the named queried sources as of 2026-08-23T06:30:58.430688+00:00.

Observation bb0f5215-c67c-4c3e-b208-02abef7748d9 · outbound

This paper cites The genetic basis of mendelian phenotypes: discoveries, challenges, and opportunities.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone The genetic basis of mendelian phenotypes: discoveries, challenges, and opportunities

Reference 11

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:39.279099Z

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No event found in the named queried sources as of 2026-08-23T06:30:58.430688+00:00.

Observation cddb65a0-c076-43c1-b7d1-36fb24eedd42 · outbound

This paper cites Opportunities and challenges for machine learning in rare diseases.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Opportunities and challenges for machine learning in rare diseases

Reference 12

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:38.974336Z

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Observation e2033551-d49c-4a5f-a4f9-f417e822ed89 · outbound

This paper cites Neural networks for classification and image generation of aging in genetic syndromes.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Neural networks for classification and image generation of aging in genetic syndromes

Reference 13

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:38.680088Z

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Observation c5218c8b-3505-4da5-9102-369289f84de2 · outbound

This paper cites The national institutes of health undiagnosed diseases program: insights into rare diseases.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone The national institutes of health undiagnosed diseases program: insights into rare diseases

Reference 14

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:38.367994Z

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No event found in the named queried sources as of 2026-08-23T06:30:58.430688+00:00.

Observation e1d13feb-1ac2-47a4-891a-7e2c62a9610a · outbound

This paper cites Identifying facial phenotypes of genetic disorders using deep learning.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Identifying facial phenotypes of genetic disorders using deep learning

Reference 15

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:38.057459Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-23T06:30:58.430688+00:00.

Observation d63b9fa7-736a-477f-b990-ad923cbec6c5 · outbound

This paper cites Genetic syndromes screening by facial recognition technology: Vgg-16 screening model construction and evaluation.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Genetic syndromes screening by facial recognition technology: Vgg-16 screening model construction and evaluation

Reference 16

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:37.783763Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-23T06:30:58.430688+00:00.

Observation c2082ee9-4468-46e6-a47b-05a9fb1b8618 · outbound

This paper cites Pedia: prioritization of exome data by image analysis.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Pedia: prioritization of exome data by image analysis

Reference 17

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:37.516914Z

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Observation 30281b4c-b772-4b0e-8e41-538b8dbaf184 · outbound

This paper cites Gestaltmatcher facilitates rare disease matching using facial phenotype descriptors.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Gestaltmatcher facilitates rare disease matching using facial phenotype descriptors

Reference 18

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:37.238031Z

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Observation cc99fc64-f065-498b-baf2-314dd44544ee · outbound

This paper cites M-cap eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone M-cap eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

Reference 19

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:36.986786Z

Source-reported events for the cited work

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Observation e1f2ae63-de74-4933-a847-3d83501a03b0 · outbound

This paper cites Phrank measures phenotype sets similarity to greatly improve mendelian diagnostic disease prioritization.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Phrank measures phenotype sets similarity to greatly improve mendelian diagnostic disease prioritization

Reference 20

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:36.713597Z

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Observation ca30b12d-bd49-42cb-a8b1-acac049782ca · outbound

This paper cites A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics

Reference 21

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:36.489628Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-23T06:30:58.430688+00:00.

Observation ce6e21d2-886a-48e3-bf0c-87a633ef320b · outbound

This paper cites a rvelin and Jaana Kek \.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone a rvelin and Jaana Kek \

Reference 22

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:36.147630Z

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Observation 57a227ec-f3d6-4c75-b27a-34d65e091469 · outbound

This paper cites Phen-gen: combining phenotype and genotype to analyze rare disorders.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Phen-gen: combining phenotype and genotype to analyze rare disorders

Reference 23

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:35.773711Z

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Observation 6b7e371e-aef7-4831-9d1a-dcc1ee6b0336 · outbound

This paper cites o hler, Marcel H Schulz, Peter Krawitz, Sebastian Bauer, Sandra D \.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone o hler, Marcel H Schulz, Peter Krawitz, Sebastian Bauer, Sandra D \

Reference 24

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:35.467058Z

Source-reported events for the cited work

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Observation 324709d8-cde9-4d22-aabd-b8652bd665a5 · outbound

This paper cites Expansion of the human phenotype ontology (hpo) knowledge base and resources.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Expansion of the human phenotype ontology (hpo) knowledge base and resources

Reference 25

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:35.187959Z

Source-reported events for the cited work

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Observation 34db01e5-44fc-4f68-beae-ff17a360014d · outbound

This paper cites Imagenet classification with deep convolutional neural networks.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Imagenet classification with deep convolutional neural networks

Reference 26

Resolution: unresolved; no resolver link, observed 2026-08-07T00:43:27.270183Z

Source-reported events for the cited work

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Observation b4f1efc1-0e8b-4ffc-be84-225e0ea57b37 · outbound

This paper cites Xrare: a machine learning method jointly modeling phenotypes and genetic evidence for rare disease diagnosis.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Xrare: a machine learning method jointly modeling phenotypes and genetic evidence for rare disease diagnosis

Reference 27

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:35.034756Z

Source-reported events for the cited work

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Observation 0c4f273f-6165-46c9-92c8-8d2ac1a9776c · outbound

This paper cites SGDR: Stochastic Gradient Descent with Warm Restarts.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone SGDR: Stochastic Gradient Descent with Warm Restarts

Reference 28

Resolution: unresolved; no resolver link, observed 2026-08-07T00:43:27.561786Z

Source-reported events for the cited work

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Observation 9f762984-2ec7-49b0-b4fa-c52e2362c0f8 · outbound

This paper cites Decoupled Weight Decay Regularization.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Decoupled Weight Decay Regularization

Reference 29

Resolution: unresolved; no resolver link, observed 2026-08-07T00:43:27.718246Z

Source-reported events for the cited work

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Observation 24e9142c-a5f8-4fe9-9834-090afcd303ea · outbound

This paper cites Rectifier nonlinearities improve neural network acoustic models.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Rectifier nonlinearities improve neural network acoustic models

Reference 30

Resolution: unresolved; no resolver link, observed 2026-08-07T00:43:27.867860Z

Source-reported events for the cited work

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Observation e90ba6c8-7870-476e-9232-9938acbccc7f · outbound

This paper cites Ai-marrvel—a knowledge-driven ai system for diagnosing mendelian disorders.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Ai-marrvel—a knowledge-driven ai system for diagnosing mendelian disorders

Reference 31

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:34.823239Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-23T06:30:58.430688+00:00.

Observation f20fecc7-3e92-4971-a0a9-e14da564f0d6 · outbound

This paper cites Estimating cumulative point prevalence of rare diseases: analysis of the orphanet database.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Estimating cumulative point prevalence of rare diseases: analysis of the orphanet database

Reference 32

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:34.534912Z

Source-reported events for the cited work

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Observation ecd6646f-6d8d-4d92-a60d-377b3ef3807e · outbound

This paper cites Cada: phenotype-driven gene prioritization based on a case-enriched knowledge graph.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Cada: phenotype-driven gene prioritization based on a case-enriched knowledge graph

Reference 33

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:34.274019Z

Source-reported events for the cited work

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Observation 2fa3674d-844b-419f-94d6-56bb034c7421 · outbound

This paper cites Insights into genetics, human biology and disease gleaned from family based genomic studies.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Insights into genetics, human biology and disease gleaned from family based genomic studies

Reference 34

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:34.039424Z

Source-reported events for the cited work

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Observation dc972a1f-1459-4324-9896-7785486d5c5d · outbound

This paper cites Rarebert: transformer architecture for rare disease patient identification using administrative claims.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Rarebert: transformer architecture for rare disease patient identification using administrative claims

Reference 35

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:33.846153Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-23T06:30:58.430688+00:00.

Observation c856c9eb-ca2f-43cd-a18e-6c3b4c18ffae · outbound

This paper cites The undiagnosed diseases network: accelerating discovery about health and disease.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone The undiagnosed diseases network: accelerating discovery about health and disease

Reference 36

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:33.599244Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-23T06:30:58.430688+00:00.

Observation e707632e-adec-41ca-a4d7-039b581a4690 · outbound

This paper cites Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks

Reference 37

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:33.295365Z

Source-reported events for the cited work

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Observation 7bfb267c-dc04-4a85-bc93-c4faba930f7c · outbound

This paper cites Cadd: predicting the deleteriousness of variants throughout the human genome.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Cadd: predicting the deleteriousness of variants throughout the human genome

Reference 38

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:33.095707Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-23T06:30:58.430688+00:00.

Observation a1531d69-5b2c-4eac-a726-830e25b5af02 · outbound

This paper cites an unresolved cited work.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Unresolved cited work

Reference 39

Resolution: unresolved; raw_fallback, observed 2026-08-07T00:43:32.833738Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-23T06:30:58.430688+00:00.

Observation fdaa9f07-afd8-49c3-8ff0-4a62bf526658 · outbound

This paper cites Interpretable clinical genomics with a likelihood ratio paradigm.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Interpretable clinical genomics with a likelihood ratio paradigm

Reference 40

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:32.569681Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-23T06:30:58.430688+00:00.

Observation 898d599c-5862-4b9b-801f-b28c2576fa55 · outbound

This paper cites A deep learning frame-work for recognizing developmental disorders.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone A deep learning frame-work for recognizing developmental disorders

Reference 41

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:32.395673Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-23T06:30:58.430688+00:00.

Observation 63ca86ff-35b3-46cb-9b61-62034806dcee · outbound

This paper cites a ger, Sebastian K \.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone a ger, Sebastian K \

Reference 42

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:32.144854Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-23T06:30:58.430688+00:00.

Observation ac3a4b91-f2dc-410e-b1b9-fa2f47dba297 · outbound

This paper cites Mutationtaster2021.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Mutationtaster2021

Reference 43

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:31.904122Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-23T06:30:58.430688+00:00.

Observation 4746a90f-306f-47d2-be25-68355f7c66d0 · outbound

This paper cites Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the clinical genome resource.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the clinical genome resource

Reference 44

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:31.637645Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-23T06:30:58.430688+00:00.

Observation ff71d3af-a7e9-4f3a-9a47-8ff2fecfc3d3 · outbound

This paper cites Large Language Models with Retrieval-Augmented Generation for Zero-Shot Disease Phenotyping.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Large Language Models with Retrieval-Augmented Generation for Zero-Shot Disease Phenotyping

Reference 45

Resolution: verified exact; local_arxiv, observed 2026-08-07T00:43:30.592764Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-23T06:30:58.430688+00:00.

Observation 5ab42134-b9cb-4303-8ab5-537126dba114 · outbound

This paper cites an unresolved cited work.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Unresolved cited work

Reference 46

Resolution: unresolved; raw_fallback, observed 2026-08-07T00:43:31.390274Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-23T06:30:58.430688+00:00.

Observation 5b245eec-e508-43f4-97de-412c89d6a192 · outbound

This paper cites Attention is all you need.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Attention is all you need

Reference 47

Resolution: unresolved; no resolver link, observed 2026-08-07T00:43:30.088597Z

Source-reported events for the cited work

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Observation df4d1432-919f-49a7-a8ab-cebbd450aa5b · outbound

This paper cites Phenolyzer: phenotype-based prioritization of candidate genes for human diseases.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Phenolyzer: phenotype-based prioritization of candidate genes for human diseases

Reference 48

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:31.136613Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-23T06:30:58.430688+00:00.

Observation dfa08a5e-87e8-4177-aca2-cc8aa0312ddf · outbound

This paper cites Inphernet accelerates monogenic disease diagnosis using patients’ candidate genes’ neighbors.

PhenoKG: Knowledge Graph-Driven Gene Discovery and Patient Insights from Phenotypes Alone Inphernet accelerates monogenic disease diagnosis using patients’ candidate genes’ neighbors

Reference 49

Resolution: verified fuzzy; raw_fallback, observed 2026-08-07T00:43:30.826816Z

Source-reported events for the cited work

No event found in the named queried sources as of 2026-08-23T06:30:58.430688+00:00.

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Pith citing papers