High‐yield identification of pathogenic <i>NF1</i> variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing-Reference-Cited by-同舟云学术

High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing

Published:2022-11-08 Issue:12 Volume:43 Page:2130-2140
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Douben Hannie C. W.¹,Nellist Mark¹^ORCID,van Unen Leontine¹,Elfferich Peter¹,Kasteleijn Esmee¹,Hoogeveen‐Westerveld Marianne¹,Louwen Jesse¹,van Veghel‐Plandsoen Monique¹,de Valk Walter¹,Saris Jasper J.¹,Hendriks Femke¹,Korpershoek Esther¹²,Hoefsloot Lies H.¹,van Vliet Margreethe¹³,van Bever Yolande¹,van de Laar Ingrid¹^ORCID,Aten Emmelien⁴,Lachmeijer Augusta M. A.⁵,Taal Walter³⁶,van den Bersselaar Lisa¹,Schuurmans Juliette⁵,Oostenbrink Rianne³⁷,van Minkelen Rick¹³,van Ierland Yvette¹³,van Ham Tjakko J.¹^ORCID

Affiliation:

1. Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam Rotterdam The Netherlands

2. Department of Pathology, Erasmus MC University Medical Center Rotterdam Rotterdam The Netherlands

3. ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC Rotterdam The Netherlands

4. Department of Clinical Genetics Leiden University Medical Center Leiden The Netherlands

5. Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics University Medical Center Utrecht Utrecht The Netherlands

6. Department of Neurology Erasmus Medical Center Rotterdam The Netherlands

7. Department of General Pediatrics Erasmus MC—Sophia Children's Hospital Rotterdam The Netherlands

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24487

Reference38 articles.

1. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1

2. The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins

3. Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS

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5. Somatic mosaicism in a patient with neurofibromatosis type 1;Colman S. D.;American Journal of Human Genetics,1996

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