Publications by authors named "Eva Rudd"

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Indicators of strangulation in medico-legal assessments: A scoping review.
Nina Heldring, Daniel Krona, Eva Rudd

Forensic Sci Int· February 2026

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Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Helena Malmgren, Malin Kvarnung, Peter Gustafsson, Britt-Marie Anderlid, Cecilia Arthur, Eva Rudd

Front Genet· June 2025

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Increased risk for uterine cancer among first-degree relatives to Swedish gastric cancer patients.
Johanna Samola Winnberg, Eva Rudd, Anne Keränen, Kristina Lagerstedt-Robinson, Annika Lindblom

Hered Cancer Clin Pract· June 2020

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TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.
Xavier Caubit, Paolo Gubellini, Joris Andrieux, Pierre L Roubertoux, Mehdi Metwaly, Eva Rudd

Nat Genet· November 2016

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Detailed gene dose analysis reveals recurrent focal gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia.
Ingegerd Ivanov Öfverholm, Anh Nhi Tran, Linda Olsson, Vasilios Zachariadis, Mats Heyman, Eva Rudd

Leuk Lymphoma· September 2016

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Syntaxin 11 marks a distinct intracellular compartment recruited to the immunological synapse of NK cells to colocalize with cytotoxic granules.
Alena Dabrazhynetskaya, Jinxia Ma, Andre Ortlieb Guerreiro-Cacais, Zita Arany, Eva Rudd

J Cell Mol Med· January 2012

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Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.
Marie Meeths, Yenan T Bryceson, Eva Rudd, Chengyun Zheng, Stephanie M Wood

Pediatr Blood Cancer· April 2010

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Multiple inherited sequence variations in two disease-causing genes in familial haemophagocytic lymphohistiocytosis.
Eva Rudd, Marie Meeths, Zümrüt Uysal, Magnus Nordenskjöld, Jan-Inge Henter

Br J Haematol· July 2009

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Fatal hemophagocytic lymphohistiocytosis in X-linked chronic granulomatous disease associated with a perforin gene variant.
Joris M van Montfrans, Eva Rudd, Lisette van de Corput, Jan-Inge Henter, Peter Nikkels

Pediatr Blood Cancer· April 2009

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Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis.
AnnaCarin Horne, Kim Göransdotter Ramme, Eva Rudd, Chengyun Zheng, Yasser Wali

Br J Haematol· October 2008

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Sequence analysis of the SRGN, AP3B1, ARF6, and SH2D1A genes in familial hemophagocytic lymphohistiocytosis.
Daoxin Ma, Eva Rudd, Josefine Edner, Sofie Gavhed, Kim Göransdotter Ramme

Pediatr Blood Cancer· May 2008

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Severe bacteria-associated hemophagocytic lymphohistiocytosis in an extremely premature infant.
Josefine Edner, Eva Rudd, Chengyun Zheng, Andreas Dahlander, Staffan Eksborg

Acta Paediatr· November 2007

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Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients.
Yenan T Bryceson, Eva Rudd, Chengyun Zheng, Josefine Edner, Daoxin Ma

Blood· September 2007

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