Daniel Kelberman

London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 12 publications

Unravelling morphoea aetiopathogenesis by next-generation sequencing of paired skin biopsies.

Unravelling morphoea aetiopathogenesis by next-generation sequencing of paired skin biopsies.

Journal: Archives of dermatological research

Published: November 24, 2022

Role of CD14+ monocyte-derived oxidised mitochondrial DNA in the inflammatory interferon type 1 signature in juvenile dermatomyositis.

Role of CD14+ monocyte-derived oxidised mitochondrial DNA in the inflammatory interferon type 1 signature in juvenile dermatomyositis.

Journal: Annals of the rheumatic diseases

Published: October 11, 2022

Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency.

Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency.

Journal: JCI insight

Published: September 08, 2021

Novel missense variants in the RNF213 gene from a European family with Moyamoya disease.

Novel missense variants in the RNF213 gene from a European family with Moyamoya disease.

Journal: Human genome variation

Published: March 27, 2019

Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation.

Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation.

Journal: EBioMedicine

Published: February 07, 2019

CD19+CD24hiCD38hi B Cells Are Expanded in Juvenile Dermatomyositis and Exhibit a Pro-Inflammatory Phenotype After Activation Through Toll-Like Receptor 7 and Interferon-α.

CD19+CD24hiCD38hi B Cells Are Expanded in Juvenile Dermatomyositis and Exhibit a Pro-Inflammatory Phenotype After Activation Through Toll-Like Receptor 7 and Interferon-α.

Journal: Frontiers in immunology

Published: January 30, 2018

The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism.

The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism.

Journal: Clinical endocrinology

Published: July 23, 2014

Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease.

Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease.

Journal: Human mutation

Published: April 03, 2014

Mutation of SALL2 causes recessive ocular coloboma in humans and mice.

Mutation of SALL2 causes recessive ocular coloboma in humans and mice.

Journal: Human molecular genetics

Published: January 14, 2014

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.

Journal: Brain : a journal of neurology

Published: September 12, 2013

A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.

A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.

Journal: Gene

Published: June 27, 2013

ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.

ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.

Journal: Human molecular genetics

Published: May 31, 2012

Showing 1-12 of 12

Last Updated: 09/26/2026