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Amber Begtrup

8PUBLICATIONS

160CO-AUTHORS

Medical biotechnology diagnostics (incl. biosensors)Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Gene mappingNeurogenetics

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Publications (8)

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|Feb 16, 2026

Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomes.

Vincent D Ustach, Maria J Guillen Sacoto, Stephen McGee

|Nov 26, 2025

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske M van Woerden

|Sep 05, 2025

Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.

Heidi L Cope, Elizabeth R Jalazo, Jonathan S Berg

|Oct 30, 2024

Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay.

Senwei Tan, Qiumeng Zhang, Rui Zhan

|Jan 31, 2024

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene <i>PSMC5</i> in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske van Woerden

|Sep 13, 2023

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.

Vani Jain, Seow Hoong Foo, Stephen Chooi

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Frequent Collaborators

4 joint publications

Kirsty McWalter

3 joint publications

Sarah Jurgensmeyer

2 joint publications

Victoria Most

2 joint publications

Renske Oegema

2 joint publications

Wallid Deb

2 joint publications

Erin Torti

2 joint publications

Jill A Rosenfeld

2 joint publications

Silvestre Cuinat

2 joint publications

Geeske van Woerden

2 joint publications

Sébastien Küry

Frequent Collaborators

4 joint publications

Kirsty McWalter

3 joint publications

Sarah Jurgensmeyer

2 joint publications

Victoria Most

2 joint publications

Renske Oegema

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