List of works - Kati J Buckingham

A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex

scientific article

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

scientific journal article

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.

scientific article

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

scientific article

Correction: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1

article

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients

scientific article published on 17 August 2018

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

scientific article

Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

scientific article

Exome sequencing identifies the cause of a mendelian disorder

scientific article

Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

scientific article

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

scientific article

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

scientific article published on April 2013

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

scientific article

Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation

scientific article published on 16 April 2019

SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. ⬇️

scientific article

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

scientific article

Toll-like receptor polymorphism associations with HIV-1 outcomes among sub-Saharan Africans

scientific article published on 10 December 2013

Variants in host viral replication cycle genes are associated with heterosexual HIV-1 acquisition in Africans

scientific article

Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1.

scientific article published on 6 November 2017

List of works by Kati J Buckingham

A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Correction: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Exome sequencing identifies the cause of a mendelian disorder

Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation

SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. ⬇️

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

Toll-like receptor polymorphism associations with HIV-1 outcomes among sub-Saharan Africans

Variants in host viral replication cycle genes are associated with heterosexual HIV-1 acquisition in Africans

Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1.