C. Rustad

发表

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Ivan K. Chinn, Eric A. Smith, J. Lupski, 2017, The Journal of allergy and clinical immunology.

Germline predisposition to myeloid neoplasms Recommendations for genetic diagnosis, clinical management and follow-up Nordic guidelines

I. Dybedal, K. Grønbæk, A. Stray-Pedersen, 2019 .

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

D. Evans, A. Samii, D. Halliday, 2015, Neurology.

Germline PTEN mutations are rare and highly penetrant

K. Heimdal, P. Møller, L. Mæhle, 2006, Hereditary Cancer in Clinical Practice.

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.

Ankita Patel, J. Lupski, R. Gibbs, 2014, American journal of human genetics.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

J. Rosenfeld, C. Shaw, Marilyn C. Jones, 2022, American journal of medical genetics. Part A.

S. Mehta, A. Offiah, K. Rosendahl, 2019, American journal of medical genetics. Part A.

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

D. Evans, R. Ferner, G. Leschziner, 2012, neurogenetics.

Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life.

T. Prescott, A. Ø. Geirdal, C. Rustad, 2013, European journal of medical genetics.

Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients

B. D. de Vries, H. Freeze, G. Mancini, 2019, Journal of inherited metabolic disease.

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations

E. Bongers, C. Wise, J. Murray, 2012, American journal of medical genetics. Part A.

Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis

R. Ramsden, S. Holder, C. Rustad, 2012, American journal of medical genetics. Part A.

Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up

O. Kilpivaara, I. Dybedal, K. Grønbæk, 2019, HemaSphere.

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

T. Nakazawa, Z. Wang, N. Matsumoto, 2016, PloS one.

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

J. Rosenfeld, A. Breman, C. Shaw, 2018, Genetics in Medicine.

Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features.

S. Johansson, G. Houge, S. Berland, 2021, Cold Spring Harbor molecular case studies.

The Cardiac Phenotype in Patients With a CHD7 Mutation

K. Heimdal, R. Hennekam, L. Hoefsloot, 2013, Circulation. Cardiovascular genetics.

High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study

H. Weedon-Fekjær, R. Savarirayan, C. Rustad, 2020, Orphanet Journal of Rare Diseases.

Positive response to imatinib in PDGFRB‐related Kosaki overgrowth syndrome

T. Prescott, C. Rustad, C. Bredrup, 2021, American journal of medical genetics. Part A.

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.

Tzung-Chien Hsieh, P. Krawitz, C. Gilissen, 2019, American journal of human genetics.

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

D. Evans, S. Huson, T. Prescott, 2017, American journal of medical genetics. Part A.

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

N. Guex, N. Brown, W. Chung, 2021, American journal of human genetics.

Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy

N. Guex, N. Brown, W. Chung, 2019, bioRxiv.

De novo substitutions of TRPM3 cause intellectual disability and epilepsy

M. Shinawi, P. Jayakar, A. Innes, 2019, European Journal of Human Genetics.

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

D. Evans, R. Ferner, G. Leschziner, 2012, neurogenetics.

15q11.2 microdeletion - seven new patients with delayed development and/or behavioural problems.

K. Heimdal, C. von der Lippe, O. Rødningen, 2011, European journal of medical genetics.

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

K. Heimdal, Soo-Mi Park, H. Firth, 2017, Journal of Medical Genetics.

Congenital heart defects and pulmonary arterial hypertension

K. Heimdal, R. Hennekam, C. Rustad, 2014 .

Man with macrocephaly, learning disability and multiple basal cell carcinomas.

C. von der Lippe, A. Bratland, C. Rustad, 2014, Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke.

Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life.

T. Prescott, C. Rustad, J. L. Jensen, 2013, European journal of medical genetics.

Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13

A. Nordgren, K. Girisha, G. Bhavani, 2023, NPJ genomic medicine.