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American Journal of Human Genetics|May 14, 2013
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophyKornelia Neveling, Lilian A Martinez-Carrera, Irmgard Hölker, et al.
Pediatrics|September 24, 2017
Rapid Targeted Genomics in Critically Ill NewbornsCleo C van Diemen, Wilhelmina S Kerstjens-Frederikse, Klasien A Bergman, et al.
Journal of Medical Genetics|September 9, 2019
Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathyRowida Almomani, Johanna C Herkert, Anna Posafalvi, et al.
Brain : a Journal of Neurology|October 21, 2017
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxiaEsther A R Nibbeling, Anna Duarri, Corien C Verschuuren-Bemelmans, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|February 14, 2023
Interobserver Variation in the Assessment of Immunohistochemistry Expression Levels in HER2-Negative Breast Cancer: Can We Improve the Identification of Low Levels of HER2 Expression by Adjusting the Criteria? An International Interobserver StudyXimena Baez-Navarro, Mieke R van Bockstal, Diënna Nawawi, et al.
Neurogenetics|August 27, 2017
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, et al.
Plos One|August 31, 2018
No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathyEdgar T Hoorntje, Anna Posafalvi, Petros Syrris, et al.
Human Mutation|August 22, 2019
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing dataIvo F A C Fokkema, Kasper J van der Velde, Mariska K Slofstra, et al.
American Journal of Human Genetics|January 21, 2004
Joint analysis of the DRD5 marker concludes association with attention-deficit/hyperactivity disorder confined to the predominantly inattentive and combined subtypesNaomi Lowe, Aiveen Kirley, Ziarih Hawi, et al.
European Journal of Pediatrics|March 30, 2023
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the NetherlandsRichelle A C M Olde Keizer, Abderrahim Marouane, Wilhelmina S Kerstjens-Frederikse, et al.
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