Concepedia

Barbro Stadheim

BS

7

Publications

272

Citations

7

H-Index

2014

Active since

Affiliations

Oslo University Hospital(Current)

Baylor College of Medicine

Texas Children's Hospital

University of Oslo

Baylor Genetics

Barbro Stadheim is an author at Oslo University Hospital specializing in medicine, genomics, and molecular diagnostics.

Top concepts

Publications per year

2014–2021

7

Publications

7

Gain-of-function variants in <i>GABRD</i> reveal a novel pathway for neurodevelopmental disorders and epilepsy

Philip K. Ahring, Vivian W. Y. Liao, Elena Gardella et al. · Brain · 2021 · 66 citations · Full text

Identification of copy number variants from exome sequence data

Pubudu Samarakoon, Hanne Sørmo Sorte, Bjørn E. Kristiansen et al. · BMC Genomics · 2014 · 64 citations · Full text

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance

John Barber, Jill A. Rosenfeld, John M. Graham et al. · American Journal of Medical Genetics Part A · 2015 · 58 citations

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

Laura Castilla‐Vallmanya, Kaja Kristine Selmer, Clémantine Dimartino et al. · Genetics in Medicine · 2020 · 32 citations · Full text

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Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2

Christeen Ramane J. Pedurupillay, Silja Svanstrøm Amundsen, Tuva Barøy et al. · Neuromuscular Disorders · 2016 · 26 citations · Full text

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