Peter Kannu

Edmonton, AB, Canada

Last Updated: 09/26/2026

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Found 87 publications

Phase 3 Trial of Oral Infigratinib in Children with Achondroplasia.

Phase 3 Trial of Oral Infigratinib in Children with Achondroplasia.

Journal: The New England journal of medicine

Published: June 29, 2026

Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 Mechanisms.

Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 Mechanisms.

Journal: Molecular biology of the cell

Published: June 17, 2026

Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 Mechanisms.

Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 Mechanisms.

Journal: bioRxiv : the preprint server for biology

Published: April 10, 2026

Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 Mechanisms.

Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 Mechanisms.

Journal: bioRxiv : the preprint server for biology

Published: April 10, 2026

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Journal: American journal of human genetics

Published: March 11, 2026

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

Journal: medRxiv : the preprint server for health sciences

Published: December 19, 2025

A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.

A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.

Journal: American journal of human genetics

Published: December 11, 2025

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Journal: The Journal of clinical investigation

Published: November 03, 2025

Corrigendum to "Multigenerational genetic inheritance and clinical characteristics of the rare disease hypophosphatasia in 6 families: A case series" [Bone Rep. 26 (2025) 1-6 (101857)].

Corrigendum to "Multigenerational genetic inheritance and clinical characteristics of the rare disease hypophosphatasia in 6 families: A case series" [Bone Rep. 26 (2025) 1-6 (101857)].

Journal: Bone reports

Published: September 22, 2025

Think classical homocystinuria if the genetic test did not confirm Marfan syndrome: Late diagnosis and phenotypic variability in adult siblings with classical homocystinuria.

Think classical homocystinuria if the genetic test did not confirm Marfan syndrome: Late diagnosis and phenotypic variability in adult siblings with classical homocystinuria.

Journal: Molecular genetics and metabolism reports

Published: July 22, 2025

Multigenerational genetic inheritance and clinical characteristics of the rare disease hypophosphatasia in 6 families: A case series.

Multigenerational genetic inheritance and clinical characteristics of the rare disease hypophosphatasia in 6 families: A case series.

Journal: Bone reports

Published: April 01, 2025

Oral Infigratinib Therapy in Children with Achondroplasia.

Oral Infigratinib Therapy in Children with Achondroplasia.

Journal: The New England journal of medicine

Published: November 18, 2024

Showing 1-12 of 87

Last Updated: 09/26/2026