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Haimel, Matthias
102  results:
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1

A single‐center cohort study of patients with hereditary sp..:

Kager, Leo ; Jimenez‐Heredia, Raúl ; Zeitlhofer, Petra...
HemaSphere.  8 (2024)  1 - p. , 2024
Link: https://doi.org/10.1002/..
 
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2

Curation and expansion of the Human Phenotype Ontology for ..:

Maassen, Willem ; Legger, Geertje ; Kul Cinar, Ovgu...
Frontiers in Immunology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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3

Low Density Granulocytes and Dysregulated Neutrophils Drivi..:

Surucu Yilmaz, Naz ; Bilgic Eltan, Sevgi ; Kayaoglu, Basak...
Journal of Clinical Immunology.  42 (2022)  3 - p. 582-596 , 2022
Link: https://doi.org/10.1007/..
 
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4

Curation and expansion of Human Phenotype Ontology for defi..:

Haimel, Matthias ; Pazmandi, Julia ; Heredia, Raúl Jiménez...
Journal of Allergy and Clinical Immunology.  149 (2022)  1 - p. 369-378 , 2022
Link: https://doi.org/10.1016/..
 
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5

SvAnna: efficient and accurate pathogenicity prediction of ..:

Danis, Daniel ; Jacobsen, Julius O. B. ; Balachandran, Parithi...
Genome Medicine.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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6

Identification of germline monoallelic mutations in IKZF2 i..:

Shahin, Tala ; Mayr, Daniel ; Shoeb, Mohamed R....
Blood Advances.  6 (2022)  7 - p. 2444-2451 , 2022
Link: https://doi.org/10.1182/..
 
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7

Biallelic variants of ATP13A3 cause dose-dependent childhoo..:

Machado, Rajiv D ; Welch, Carrie L ; Haimel, Matthias...
Journal of Medical Genetics.  59 (2021)  9 - p. 906-911 , 2021
Link: https://doi.org/10.1136/..
 
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8

Thrombomodulin in patients with mild to moderate bleeding t..:

Mehic, Dino ; Tolios, Alexander ; Hofer, Stefanie...
Haemophilia.  27 (2021)  6 - p. 1028-1036 , 2021
Link: https://doi.org/10.1111/..
 
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9

Elevated levels of tissue factor pathway inhibitor in patie..:

Mehic, Dino ; Tolios, Alexander ; Hofer, Stefanie...
Blood Advances.  5 (2021)  2 - p. 391-398 , 2021
Link: https://doi.org/10.1182/..
 
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10

The Human Phenotype Ontology in 2021:

Köhler, Sebastian ; Gargano, Michael ; Matentzoglu, Nicolas...
Nucleic Acids Research.  49 (2020)  D1 - p. D1207-D1217 , 2020
Link: https://doi.org/10.1093/..
 
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11

Whole-genome sequencing of patients with rare diseases in a..:

Turro, Ernest ; Astle, William J. ; Megy, Karyn...
Nature.  583 (2020)  7814 - p. 96-102 , 2020
Link: https://doi.org/10.1038/..
 
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12

Genetic determinants of risk in pulmonary arterial hyperten..:

Rhodes, Christopher J ; Batai, Ken ; Bleda, Marta...
The Lancet Respiratory Medicine.  7 (2019)  3 - p. 227-238 , 2019
Link: https://doi.org/10.1016/..
 
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13

Identification of rare sequence variation underlying herita..:

Gräf, Stefan ; Haimel, Matthias ; Bleda, Marta...
Nature Communications.  9 (2018)  1 - p. , 2018
Link: https://doi.org/10.1038/..
 
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14

Platelet function is modified by common sequence variation ..:

Petersen, Romina ; Lambourne, John J. ; Javierre, Biola M....
Nature Communications.  8 (2017)  1 - p. , 2017
Link: https://doi.org/10.1038/..
 
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15

HGVA: the Human Genome Variation Archive:

Lopez, Javier ; Coll, Jacobo ; Haimel, Matthias...
Nucleic Acids Research.  45 (2017)  W1 - p. W189-W194 , 2017
Link: https://doi.org/10.1093/..
 
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