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Rustad, Cecilie F.
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1

A monoallelic UXS1 variant associated with short‐limbed sho..:

Rustad, Cecilie F. ; Backe, Paul Hoff ; Jin, Chunsheng...
Molecular Genetics & Genomic Medicine.  12 (2024)  6 - p. , 2024
Link: https://doi.org/10.1002/..
 
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2

Clinical, genetic and structural delineation of RPL13-relat..:

Jacob, Prince ; Lindelöf, Hillevi ; Rustad, Cecilie F....
npj Genomic Medicine.  8 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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3

Phenotypic expansion of ARSK‐related mucopolysaccharidosis:

Rustad, Cecilie F. ; Prescott, Trine E. ; Merckoll, Else...
American Journal of Medical Genetics Part A.  188 (2022)  11 - p. 3369-3373 , 2022
Link: https://doi.org/10.1002/..
 
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4

Identifying phenotypic expansions for congenital diaphragma..:

Hardcastle, Amy ; Berry, Aliska M. ; Campbell, Ian M....
American Journal of Medical Genetics Part A.  188 (2022)  10 - p. 2958-2968 , 2022
Link: https://doi.org/10.1002/..
 
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5

Positive response to imatinib in PDGFRB‐related Kosaki over..:

Rustad, Cecilie F. ; Tveten, Kristian ; Prescott, Trine E....
American Journal of Medical Genetics Part A.  185 (2021)  8 - p. 2597-2601 , 2021
Link: https://doi.org/10.1002/..
 
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6

Variants in the degron of AFF3 are associated with intellec..:

Voisin, Norine ; Schnur, Rhonda E. ; Douzgou, Sofia...
The American Journal of Human Genetics.  108 (2021)  5 - p. 857-873 , 2021
Link: https://doi.org/10.1016/..
 
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7

High prevalence of symptomatic spinal stenosis in Norwegian..:

Fredwall, Svein O. ; Steen, Unni ; de Vries, Olga...
Orphanet Journal of Rare Diseases.  15 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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8

Correction to: High prevalence of symptomatic spinal stenos..:

Fredwall, Svein O. ; Steen, Unni ; de Vries, Olga...
Orphanet Journal of Rare Diseases.  15 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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9

PAPSS2‐related brachyolmia: Clinical and radiological pheno..:

Bownass, Lucy ; Abbs, Stephen ; Armstrong, Ruth...
American Journal of Medical Genetics Part A.  179 (2019)  9 - p. 1884-1894 , 2019
Link: https://doi.org/10.1002/..
 
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10

Nordic Guidelines for Germline Predisposition to Myeloid Ne..:

Baliakas, Panagiotis ; Tesi, Bianca ; Wartiovaara-Kautto, Ulla...
HemaSphere.  3 (2019)  6 - p. e321 , 2019
Link: https://doi.org/10.1097/..
 
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11

De novo substitutions of TRPM3 cause intellectual disabilit..:

Dyment, David A. ; Terhal, Paulien A. ; Rustad, Cecilie F....
European Journal of Human Genetics.  27 (2019)  10 - p. 1611-1618 , 2019
Link: https://doi.org/10.1038/..
 
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12

Clinical exome sequencing reveals locus heterogeneity and p..:

Yuan, Bo ; Neira, Juanita ; Pehlivan, Davut...
Genetics in Medicine.  21 (2019)  3 - p. 663-675 , 2019
Link: https://doi.org/10.1038/..
 
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13

Clinical, neuroradiological, and biochemical features ofSLC..:

Vals, Mari‐Anne ; Ashikov, Angel ; Ilves, Pilvi...
Journal of Inherited Metabolic Disease.  42 (2019)  3 - p. 553-564 , 2019
Link: https://doi.org/10.1002/..
 
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14

Neurofibromatosis type 2: Multiple intra‐dermal tumors in a..:

Rustad, Cecilie F. ; Dahl, Hilde M. ; Bowers, Naomi L....
American Journal of Medical Genetics Part A.  173 (2017)  5 - p. 1447-1449 , 2017
Link: https://doi.org/10.1002/..
 
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15

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mu..:

Wang, Zheng ; Iida, Aritoshi ; Miyake, Noriko...
PLOS ONE.  11 (2016)  3 - p. e0150555 , 2016
Link: https://doi.org/10.1371/..
 
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