Alan H Beggs

53PUBLICATIONS
300CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Infant and child healthNeurology and neuromuscular diseasesGene and molecular therapyDevelopmental genetics (incl. sex determination)
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Publications (53)

|Jul 30, 2026
LLM-Assisted Reanalysis of Unsolved Rare Disease Genomes Increases Diagnostic Yield.

|Jun 26, 2026
Multimodal Sequencing and Reanalysis Approaches to End the Diagnostic Odyssey of Individuals with Suspected Rare Monogenic Diseases.

|May 15, 2026
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic Myopathy.

|Feb 12, 2026
Missense variants in TUBA4A cause myo-tubulinopathies.

Mridul Johari, Chiara Folland, Yoshihiko Saito

|Jan 12, 2026
The Role of Academic Medical Centers in Personalized Experimental Therapeutic Development: Key Considerations.

Kira A Dies, Timothy W Yu, Nancy L Chamberlin

|Nov 26, 2025
Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.

Yong-Han Hank Cheng, Adriana E Sedeño-Cortés, Jane E Ranchalis

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Frequent Collaborators

8 joint publications

Casie A Genetti

7 joint publications

Monica Wojcik

6 joint publications

Pankaj B Agrawal

6 joint publications

Catherine A Brownstein