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Plasma Metabolomics Implicates Modified Transfer RNAs and Altered Bioenergetics in the Outcomes of Pulmonary Arterial Hypertension
Plasma Metabolomics Implicates Modified Transfer RNAs and Altered Bioenergetics in the Outcomes of Pulmonary Arterial Hypertension
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Plasma Metabolomics Implicates Modified Transfer RNAs and Altered Bioenergetics in the Outcomes of Pulmonary Arterial Hypertension

Rhodes, Christopher J ; Ghataorhe, Pavandeep ; Wharton, John ; Rue-Albrecht, Kevin C ; Hadinnapola, Charaka ; Watson, Geoffrey ; Bleda, Marta ; Haimel, Matthias ; Coghlan, Gerry ; Corris, Paul A ; Howard, Luke S ; Kiely, David G ; Peacock, Andrew J ; Pepke-Zaba, Joanna ; Toshner, Mark R ; Wort, S John ; Gibbs, J Simon R ; Lawrie, Allan ; Gräf, Stefan ; Morrell, Nicholas W ; Wilkins, Martin R

Circulation (New York, N.Y.), 2017-01, Vol.135 (5), p.460-475 [Periódico revisado por pares]

United States: Lippincott Williams & Wilkins

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2
Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching
Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching
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Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching

Maassen, Willem ; Legger, Geertje ; Kul Cinar, Ovgu ; van Daele, Paul ; Gattorno, Marco ; Bader-Meunier, Brigitte ; Wouters, Carine ; Briggs, Tracy ; Johansson, Lennart ; van der Velde, Joeri ; Swertz, Morris ; Omoyinmi, Ebun ; Hoppenreijs, Esther ; Belot, Alexandre ; Eleftheriou, Despina ; Caorsi, Roberta ; Aeschlimann, Florence ; Boursier, Guilaine ; Brogan, Paul ; Haimel, Matthias ; van Gijn, Marielle

Frontiers in immunology, 2023-09, Vol.14, p.1215869-1215869 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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3
SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing
SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing
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SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

Danis, Daniel ; Jacobsen, Julius O B ; Balachandran, Parithi ; Zhu, Qihui ; Yilmaz, Feyza ; Reese, Justin ; Haimel, Matthias ; Lyon, Gholson J ; Helbig, Ingo ; Mungall, Christopher J ; Beck, Christine R ; Lee, Charles ; Smedley, Damian ; Robinson, Peter N

Genome medicine, 2022-04, Vol.14 (1), p.44-13, Article 44 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency
Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency
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Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency

Surucu Yilmaz, Naz ; Bilgic Eltan, Sevgi ; Kayaoglu, Basak ; Geckin, Busranur ; Heredia, Raul Jimenez ; Sefer, Asena Pinar ; Kiykim, Ayca ; Nain, Ercan ; Kasap, Nurhan ; Dogru, Omer ; Yucelten, Ayse Deniz ; Cinel, Leyla ; Karasu, Gulsun ; Yesilipek, Akif ; Sozeri, Betul ; Kaya, Goksu Gokberk ; Yilmaz, Ismail Cem ; Baydemir, Ilayda ; Aydin, Yagmur ; Cansen Kahraman, Deniz ; Haimel, Matthias ; Boztug, Kaan ; Karakoc-Aydiner, Elif ; Gursel, Ihsan ; Ozen, Ahmet ; Baris, Safa ; Gursel, Mayda

Journal of clinical immunology, 2022-04, Vol.42 (3), p.582-596 [Periódico revisado por pares]

New York: Springer US

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5
A single‐center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease‐causing genotypes
A single‐center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease‐causing genotypes
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A single‐center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease‐causing genotypes

Kager, Leo ; Jimenez‐Heredia, Raúl ; Zeitlhofer, Petra ; Novak, Wolfgang ; Eder, Sebastian K. ; Segarra‐Roca, Anna ; Frohne, Alexandra ; Nebral, Karin ; Haimel, Matthias ; Geyeregger, René ; Roetzer‐Londgin, Katharina ; Haas, Oskar A. ; Boztug, Kaan

HemaSphere, 2024-01, Vol.8 (1), p.e31-n/a [Periódico revisado por pares]

United States: Wiley

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6
ProteinArchitect: protein evolution above the sequence level
ProteinArchitect: protein evolution above the sequence level
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ProteinArchitect: protein evolution above the sequence level

Haimel, Matthias ; Pröll, Karin ; Rebhan, Michael Buckle, Ashley M.

PloS one, 2009-07, Vol.4 (7), p.e6176-e6176 [Periódico revisado por pares]

United States: Public Library of Science

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7
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity
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Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity

Haimel, Matthias ; Pazmandi, Julia ; Heredia, Raúl Jiménez ; Trück, Johannes

Elsevier 2022-01

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8
The Human Phenotype Ontology in 2021
The Human Phenotype Ontology in 2021
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The Human Phenotype Ontology in 2021

Köhler, Sebastian ; Gargano, Michael ; Matentzoglu, Nicolas ; Carmody, Leigh C ; Lewis-Smith, David ; Vasilevsky, Nicole A ; Danis, Daniel ; Balagura, Ganna ; Baynam, Gareth ; Brower, Amy M ; Callahan, Tiffany J ; Chute, Christopher G ; Est, Johanna L ; Galer, Peter D ; Ganesan, Shiva ; Griese, Matthias ; Haimel, Matthias ; Pazmandi, Julia ; Hanauer, Marc ; Harris, Nomi L ; Hartnett, Michael J ; Hastreiter, Maximilian ; Hauck, Fabian ; He, Yongqun ; Jeske, Tim ; Kearney, Hugh ; Kindle, Gerhard ; Klein, Christoph ; Knoflach, Katrin ; Krause, Roland ; Lagorce, David ; McMurry, Julie A ; Miller, Jillian A ; Munoz-Torres, Monica C ; Peters, Rebecca L ; Rapp, Christina K ; Rath, Ana M ; Rind, Shahmir A ; Rosenberg, Avi Z ; Segal, Michael M ; Seidel, Markus G ; Smedley, Damian ; Talmy, Tomer ; Thomas, Yarlalu ; Wiafe, Samuel A ; Xian, Julie ; Yüksel, Zafer ; Helbig, Ingo ; Mungall, Christopher J ; Haendel, Melissa A ; Robinson, Peter N

Nucleic acids research, 2021-01, Vol.49 (D1), p.D1207-D1217 [Periódico revisado por pares]

England: Oxford University Press

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9
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease
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The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

Astle, William J. ; Elding, Heather ; Jiang, Tao ; Allen, Dave ; Ruklisa, Dace ; Mann, Alice L. ; Mead, Daniel ; Bouman, Heleen ; Riveros-Mckay, Fernando ; Kostadima, Myrto A. ; Lambourne, John J. ; Sivapalaratnam, Suthesh ; Downes, Kate ; Kundu, Kousik ; Bomba, Lorenzo ; Berentsen, Kim ; Bradley, John R. ; Daugherty, Louise C. ; Delaneau, Olivier ; Freson, Kathleen ; Garner, Stephen F. ; Grassi, Luigi ; Guerrero, Jose ; Haimel, Matthias ; Janssen-Megens, Eva M. ; Kaan, Anita ; Kamat, Mihir ; Kim, Bowon ; Mandoli, Amit ; Marchini, Jonathan ; Martens, Joost H.A. ; Meacham, Stuart ; Megy, Karyn ; O’Connell, Jared ; Petersen, Romina ; Sharifi, Nilofar ; Sheard, Simon M. ; Staley, James R. ; Tuna, Salih ; van der Ent, Martijn ; Walter, Klaudia ; Wang, Shuang-Yin ; Wheeler, Eleanor ; Wilder, Steven P. ; Iotchkova, Valentina ; Moore, Carmel ; Sambrook, Jennifer ; Stunnenberg, Hendrik G. ; Di Angelantonio, Emanuele ; Kaptoge, Stephen ; Kuijpers, Taco W. ; Carrillo-de-Santa-Pau, Enrique ; Juan, David ; Rico, Daniel ; Valencia, Alfonso ; Chen, Lu ; Ge, Bing ; Vasquez, Louella ; Kwan, Tony ; Garrido-Martín, Diego ; Watt, Stephen ; Yang, Ying ; Guigo, Roderic ; Beck, Stephan ; Paul, Dirk S. ; Pastinen, Tomi ; Bujold, David ; Bourque, Guillaume ; Frontini, Mattia ; Danesh, John ; Roberts, David J. ; Ouwehand, Willem H. ; Butterworth, Adam S. ; Soranzo, Nicole

Cell, 2016-11, Vol.167 (5), p.1415-1429.e19 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders
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Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

Downes, Kate ; Megy, Karyn ; Duarte, Daniel ; Vries, Minka ; Gebhart, Johanna ; Hofer, Stefanie ; Shamardina, Olga ; Deevi, Sri V.V. ; Stephens, Jonathan ; Mapeta, Rutendo ; Tuna, Salih ; Al Hasso, Namir ; Besser, Martin W. ; Cooper, Nichola ; Daugherty, Louise ; Gleadall, Nick ; Greene, Daniel ; Haimel, Matthias ; Martin, Howard ; Papadia, Sofia ; Revel-Vilk, Shoshana ; Sivapalaratnam, Suthesh ; Symington, Emily ; Thomas, Will ; Thys, Chantal ; Tolios, Alexander ; Penkett, Christopher J. ; Ouwehand, Willem H. ; Abbs, Stephen ; Laffan, Michael A. ; Turro, Ernest ; Simeoni, Ilenia ; Mumford, Andrew D. ; Henskens, Yvonne M.C. ; Pabinger, Ingrid ; Gomez, Keith ; Freson, Kathleen

Blood, 2019-12, Vol.134 (23), p.2082-2091 [Periódico revisado por pares]

United States: Elsevier Inc

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