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Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants
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Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants

Kehrer-Sawatzki, Hildegard ; Cooper, David N.

Human genetics, 2022-02, Vol.141 (2), p.177-191 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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2
Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome
Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome
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Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome

Douben, Hannie ; Hoogeveen-Westerveld, Marianne ; Nellist, Mark ; Louwen, Jesse ; Haan, Marian Kroos-de ; Punt, Mattijs ; van Ommeren, Babeth ; van Unen, Leontine ; Elfferich, Peter ; Kasteleijn, Esmee ; van Bever, Yolande ; van Vliet, Margreethe ; Oostenbrink, Rianne ; Saris, Jasper J. ; Wagner, Anja ; van Ierland, Yvette ; van Ham, Tjakko ; van Minkelen, Rick Kehrer-Sawatzki, Hildegard ; Hildegard Kehrer-Sawatzki

Human mutation, 2023-02, Vol.2023, p.1-14 [Periódico revisado por pares]

Hoboken: Hindawi

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3
Distinct sequence features underlie microdeletions and gross deletions in the human genome
Distinct sequence features underlie microdeletions and gross deletions in the human genome
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Distinct sequence features underlie microdeletions and gross deletions in the human genome

Qi, Mengling ; Stenson, Peter D. ; Ball, Edward V. ; Tainer, John A. ; Bacolla, Albino ; Kehrer‐Sawatzki, Hildegard ; Cooper, David N. ; Zhao, Huiying

Human mutation, 2022-03, Vol.43 (3), p.328-346 [Periódico revisado por pares]

United States: Hindawi Limited

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4
Das NF1‐Mikrodeletions‐Syndrom: Die frühzeitige genetische Diagnose erleichtert den Umgang mit einer klinisch definierten Erkrankung
Das NF1‐Mikrodeletions‐Syndrom: Die frühzeitige genetische Diagnose erleichtert den Umgang mit einer klinisch definierten Erkrankung
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Das NF1‐Mikrodeletions‐Syndrom: Die frühzeitige genetische Diagnose erleichtert den Umgang mit einer klinisch definierten Erkrankung

Kehrer‐Sawatzki, Hildegard ; Bäzner, Ute ; Krämer, Johannes ; Lewerenz, Jan ; Pfeiffer, Christiane

Journal der Deutschen Dermatologischen Gesellschaft, 2022-03, Vol.20 (3), p.273-278 [Periódico revisado por pares]

Germany: Wiley Subscription Services, Inc

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5
The NF1 microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease
The NF1 microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease
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The NF1 microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease

Kehrer‐Sawatzki, Hildegard ; Bäzner, Ute ; Krämer, Johannes ; Lewerenz, Jan ; Pfeiffer, Christiane

Journal der Deutschen Dermatologischen Gesellschaft, 2022-03, Vol.20 (3), p.273-277 [Periódico revisado por pares]

Germany: Wiley Subscription Services, Inc

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6
Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicism
Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicism
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Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicism

Kluwe, Lan ; Friedrich, Reinhard E. ; Farschtschi, Said C. ; Hagel, Christian ; Kehrer‐Sawatzki, Hildegard ; Mautner, Victor‐Felix

Human mutation, 2020-07, Vol.41 (7), p.1226-1231 [Periódico revisado por pares]

United States: Hindawi Limited

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7
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics
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Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

Cooper, David N ; Chen, Jian-Min ; Ball, Edward V ; Howells, Katy ; Mort, Matthew ; Phillips, Andrew D ; Chuzhanova, Nadia ; Krawczak, Michael ; Kehrer-Sawatzki, Hildegard ; Stenson, Peter D

Human mutation, 2010-06, Vol.31 (6), p.631-655 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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8
On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease
On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease
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On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease

Cooper, David N. ; Bacolla, Albino ; Férec, Claude ; Vasquez, Karen M. ; Kehrer-Sawatzki, Hildegard ; Chen, Jian-Min

Human mutation, 2011-10, Vol.32 (10), p.1075-1099 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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9
Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis
Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis
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Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis

Farschtschi, Said ; Mautner, Victor-Felix ; Pham, Mirko ; Nguyen, Rosa ; Kehrer-Sawatzki, Hildegard ; Hutter, Sonja ; Friedrich, Reinhard E. ; Schulz, Alexander ; Morrison, Helen ; Jones, David T. W. ; Bendszus, Martin ; Bäumer, Philipp

Annals of neurology, 2016-10, Vol.80 (4), p.625-628 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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10
Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions
Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions
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Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions

Kehrer-Sawatzki, Hildegard ; Cooper, David N.

Human genetics, 2021-12, Vol.140 (12), p.1635-1649 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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