Publications by authors named "Cecilie Rustad"

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Recurrent platelet-derived growth factor receptor beta gene mutations in Kosaki overgrowth syndrome: a molecular and clinical overview.
Titas Gladkauskas, Ileana Cristea, Roya Mehrasa, Ove Bruland, Cecilie F Rustad

Clin Dysmorphol· December 2025

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Clinical and genetic findings in 103 individuals with basal cell naevus syndrome in Norway.
Karianne Haga Brandtzæg, Charlotte von der Lippe, Ingvild Kibsgaard Vestengen, Josephine Prener Holtan, Mona Irene Winge, Cecilie F Rustad

Br J Dermatol· October 2025

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'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors.
Yordi-Michaël Bouhatous, Cecilie Bredrup, Agnes Maurer, Liubinka Mirakovska, Alison Foster, Cecilie F Rustad

J Med Genet· September 2025

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Healthcare needs, care use and health status outcomes in adults with Bardet-Biedl syndrome: a cross-sectional study in Norway.
Cecilie Fremstad Rustad, Ragnheidur Bragadottir, Hilde Nordgarden, Jeanette Ullmann Ullmann Miller, Mina Susanne Weedon-Fekjær

BMJ Open· April 2025

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Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway.
Cecilie Fremstad Rustad, Ragnheidur Bragadottir, Kristian Tveten, Hilde Nordgarden, Jeanette Ullmann Miller

Orphanet J Rare Dis· March 2025

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A monoallelic UXS1 variant associated with short-limbed short stature.
Cecilie F Rustad, Paul Hoff Backe, Chunsheng Jin, Else Merckoll, Kristian Tveten

Mol Genet Genomic Med· June 2024

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Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.
Prince Jacob, Hillevi Lindelöf, Cecilie F Rustad, Vernon Reid Sutton, Shahida Moosa

NPJ Genom Med· November 2023

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Phenotypic expansion of ARSK-related mucopolysaccharidosis.
Cecilie F Rustad, Trine E Prescott, Else Merckoll, Erle Kristensen, Cathrin L Salvador

Am J Med Genet A· November 2022

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Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Amy Hardcastle, Aliska M Berry, Ian M Campbell, Xiaonan Zhao, Pengfei Liu, Cecilie F Rustad

Am J Med Genet A· October 2022

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[Correction: A woman in her fifties with chronic muscle weakness].
Cecilie F Rustad, Kristian Tveten, Geir J Braathen, Else Merckoll, Eva Kirkhus

Tidsskr Nor Laegeforen· February 2022

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A woman in her fifties with chronic muscle weakness.
Cecilie F Rustad, Kristian Tveten, Geir J Braathen, Else Merckoll, Eva Kirkhus

Tidsskr Nor Laegeforen· January 2022

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Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features.
Siren Berland, Cecilie F Rustad, Mariann H L Bentsen, Embjørg J Wollen, Gitta Turowski

Cold Spring Harb Mol Case Stud· December 2021

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Positive response to imatinib in PDGFRB-related Kosaki overgrowth syndrome.
Cecilie F Rustad, Kristian Tveten, Trine E Prescott, Peder O Bjerkeseth, Cecilie Bredrup

Am J Med Genet A· August 2021

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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Norine Voisin, Rhonda E Schnur, Sofia Douzgou, Susan M Hiatt, Cecilie F Rustad

Am J Hum Genet· May 2021

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Correction to: High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study.
Svein O Fredwall, Unni Steen, Olga de Vries, Cecilie F Rustad, Heidi Beate Eggesbø

Orphanet J Rare Dis· December 2020

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High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study.
Svein O Fredwall, Unni Steen, Olga de Vries, Cecilie F Rustad, Heidi Beate Eggesbø

Orphanet J Rare Dis· May 2020

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Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up.
Panagiotis Baliakas, Bianca Tesi, Ulla Wartiovaara-Kautto, Asbjørg Stray-Pedersen, Lone Smidstrup Friis, Cecilie F Rustad

Hemasphere· December 2019

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De novo substitutions of TRPM3 cause intellectual disability and epilepsy.
David A Dyment, Paulien A Terhal, Cecilie F Rustad, Kristian Tveten, Christopher Griffith

Eur J Hum Genet· October 2019

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PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.
Lucy Bownass, Stephen Abbs, Ruth Armstrong, Genevieve Baujat, Gry Behzadi, Cecilie F Rustad

Am J Med Genet A· September 2019

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Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.
Mari-Anne Vals, Angel Ashikov, Pilvi Ilves, Dagmar Loorits, Qiang Zeng, Cecilie F Rustad

J Inherit Metab Dis· May 2019

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The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.
Felix Marbach, Cecilie F Rustad, Angelika Riess, Dejan Đukić, Tzung-Chien Hsieh

Am J Hum Genet· April 2019

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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Bo Yuan, Juanita Neira, Davut Pehlivan, Teresa Santiago-Sim, Xiaofei Song, Cecilie F Rustad

Genet Med· March 2019

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Heterozygous mutations affecting the protein kinase domain of cause a syndromic form of developmental delay and intellectual disability.
Mark J Hamilton, Richard C Caswell, Natalie Canham, Trevor Cole, Helen V Firth, Cecilie F Rustad

J Med Genet· January 2018

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Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler.
Cecilie F Rustad, Hilde M Dahl, Naomi L Bowers, Jan C Sitek, Arvid Heiberg

Am J Med Genet A· May 2017

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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
Asbjørg Stray-Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, Tomasz Gambin, Ivan K Chinn, Cecilie F Rustad

J Allergy Clin Immunol· January 2017

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