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1
AI succeeds in diagnosing rare diseases

von Lassmann, Timo

Nature: International weekly journal of science. 651(8106):597-598
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2
Single-cell data combined with phenotypes improves variant interpretation

von Chapman, Timothy ; Lassmann, Timo

BMC Genomics. 26(1)
- Zum Volltext in PubMed Central
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3
Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism

von Shaw, Nicole C. ; Harrison, Saraya ; Chen, Kevin ; et al.

Molecular Medicine. 31(1)
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4
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

von Delgado-Vega, Angelica Maria ; Cederroth, Helene ; Taylan, Fulya ; et al.

Nature Genetics. 56(11):2287-2294
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5
A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease

von Forbes, Catherine A. ; Shaw, Nicole C. ; Chen, Kevin G. ; et al.

Human Genomics. 20(1)
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6
Mesothelioma location influences the tumour microenvironment and immune checkpoint therapy response in preclinical models

von Orozco Morales, M. Lizeth ; Lansley, Sally M. ; Chin, Wee Loong ; et al.

Scientific Reports. 16(1)
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7
Coupling of response biomarkers between tumor and peripheral blood in patients undergoing chemoimmunotherapy

von Chin, Wee Loong ; Cook, Alistair M. ; Chee, Jonathan ; et al.

In Cell Reports Medicine 21 January 2025 6(1)
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8
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases

von van Karnebeek, Clara D. M. ; O’Donnell-Luria, Anne ; Baynam, Gareth ; et al.

Orphanet Journal of Rare Diseases. 19(1)
- Zum Volltext in PubMed Central
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9
Time-course RNAseq data of murine AB1 mesothelioma and Renca renal cancer following immune checkpoint therapy

von Chin, Wee Loong ; Zemek, Rachael M. ; Tilsed, Caitlin M. ; et al.

Scientific Data. 11(1)
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10
CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction

von Farley, Kathryn O. ; Forbes, Catherine A. ; Shaw, Nicole C. ; et al.

In Human Genetics and Genomics Advances 11 January 2024 5(1)
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11
Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling

von Shaw, Nicole C. ; Chen, Kevin ; Farley, Kathryn O. ; et al.

Molecular Autism. 15(1)
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12
Machine Learning to Identify Molecular Signatures in Amyotrophic Lateral Sclerosis

von Farley, Kathryn ; Lassmann, Timo
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13
MODL-05. Age-appropriate models of pediatric brain tumors reveal age-dependent tumor-immune interactions.

von Abbas, Zahra ; Elaskalani, Omar ; Wouters, Merridee A ; et al.

Neuro-Oncology Pediatrics ; volume 1, issue Supplement_1 ; ISSN 2977-4454
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14
The United Nations convention on rare diseases—A framework for research prioritization

von Junaid, Mohammed ; Downs, Jenny ; Groza, Tudor ; et al.

Frontiers in Public Health ; volume 13 ; ISSN 2296-2565
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15
Author Correction: An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA

von Maida, Yoshiko ; Yasukawa, Mami ; Furuuchi, Miho ; et al.

Nature: International weekly journal of science. 638(8050):E3-E3
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16
Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case study

von Fear, Vanessa S ; Forbes, Catherine A ; Anderson, Denise ; et al.

In Gene 5 May 2022 821
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17
Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease

von Fear, Vanessa S. ; Forbes, Catherine A. ; Shaw, Nicole C. ; et al.

Stem Cell Research & Therapy. 14(1)
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18
Immune checkpoint therapy responders display early clonal expansion of tumor infiltrating lymphocytes

von Kidman, Joel ; Zemek, Rachael M. ; Sidhom, John-William ; et al.

Schlagworte: Original Research
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19
SampleExplorer: using language models to discover relevant transcriptome data

von Chin, Wee Loong ; Lassmann, Timo ; Birol, Inanc ; et al.

Bioinformatics ; volume 41, issue 1 ; ISSN 1367-4811
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20
Mining single-cell data for cell type–disease associations

von Chen, Kevin G ; Farley, Kathryn O ; Lassmann, Timo ; et al.

NAR Genomics and Bioinformatics ; volume 6, issue 4 ; ISSN 2631-9268
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21
SAMStat 2: quality control for next generation sequencing data

von Lassmann, Timo ; Birol, Inanc ; Feilman and Stan Perron Foundation

Bioinformatics ; volume 39, issue 1 ; ISSN 1367-4811
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22
Temporally restricted activation of IFNβ signaling underlies response to immune checkpoint therapy in mice

von Zemek, Rachael M. ; Chin, Wee Loong ; Fear, Vanessa S. ; et al.

Nature Communications. 13(1)
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23
Author Correction: Discovery of widespread transcription initiation at microsatellites predictable by sequence-based deep neural network

von Grapotte, Mathys ; Saraswat, Manu ; Bessière, Chloé ; et al.

Nature Communications. 13(1)
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24
CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency

von Fear, Vanessa S. ; Forbes, Catherine A. ; Anderson, Denise ; et al.

Stem Cell Research & Therapy. 13(1)
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25
An expanded phenotype centric benchmark of variant prioritisation tools

von Anderson, Denise ; Lassmann, Timo ; McCusker Charitable Foundation

Human Mutation ; volume 43, issue 5, page 539-546 ; ISSN 1059-7794 1098-1004
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