S. Kaur

发表

Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A).

J. Christodoulou, B. Kamien, D. Phelan, 2020, Journal of genetics and genomics = Yi chuan xue bao.

Recent Advancement in Human Reproduction Three-parent Babies: A Technique to Neutralize Mitochondrial Disease Load—A Boon or a Bane for Society?

M. Nagpal, S. Kaur, 2017 .

Clinician’s guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature

Z. Tümer, R. Møller, J. Christodoulou, 2019, Clinical genetics.

University of Southern Denmark Clinician's guide to genes associated with Rett-like phenotypes Investigation of a Danish cohort and review of the literature

Z. Tümer, R. Møller, J. Christodoulou, 2017 .

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

J. Gécz, S. Robertson, R. Stevenson, 2022, Human mutation.

Surrogacy: The Need, Usage, Misuse, and the much Needed Rectification Step – The Proposed Surrogacy Bill 2016

Simranpreet Kaur, S. Kaur, 2017 .

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

J. Gécz, S. Robertson, R. Stevenson, 2021, HGG advances.

Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient

J. Christodoulou, C. Ellaway, S. Lunke, 2019, Clinical case reports.

Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder

Matthew P. Anderson, Yufeng Shen, J. Christodoulou, 2020, medRxiv.

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)

W. Chung, N. Brunetti‐Pierri, Z. Tümer, 2020, Human mutation.

Mitochondrial respiratory states and rates

Sharma, Whiejong M. Han, Duchen, 2019 .

Mitochondrial dysfunction in skeletal muscle of a mouse model of Rett Syndrome ( RTT ) : Implications for the disease phenotype .

P. Tam, J. Christodoulou, I. Hargreaves, 2014 .

Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

Z. Tümer, J. Christodoulou, M. Larsen, 2018, Clinical genetics.

Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): implications for the disease phenotype.

W. Gold, S. Kaur, G. Pelka, 2014, Mitochondrion.