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Nature Genetics|May 10, 2011
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromesAudrey Putoux, Sophie Thomas, Karlien L M Coene, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2011
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop ReportHanan Hamamy, Stylianos E Antonarakis, Luigi Luca Cavalli-Sforza, et al.Neuron|February 13, 2018
Immune or Genetic-Mediated Disruption of CASPR2 Causes Pain Hypersensitivity Due to Enhanced Primary Afferent ExcitabilityJohn M Dawes, Greg A Weir, Steven J Middleton, et al.Biorxiv : the Preprint Server for Biology|January 27, 2025
Permissive central tolerance plus defective peripheral checkpoints licence pathogenic memory B cells in CASPR2-antibody encephalitisBo Sun, Dominique Fernandes, Anne-Kathrin Kienzler, et al.Nature Methods|August 8, 2013
The CRAPome: a contaminant repository for affinity purification-mass spectrometry dataDattatreya Mellacheruvu, Zachary Wright, Amber L Couzens, et al.Science Advances|April 16, 2025
Permissive central tolerance plus defective peripheral checkpoints license pathogenic memory B cells in CASPR2-antibody encephalitisBo Sun, Dominique Fernandes, John Soltys, et al.Pain|October 29, 2024
Genetic associations of neuropathic pain and sensory profile in a deeply phenotyped neuropathy cohortMikael Åkerlund, Georgios Baskozos, Wenqianglong Li, et al.Science (New York, N.Y.)|May 25, 2019
Germline selection shapes human mitochondrial DNA diversityWei Wei, Salih Tuna, Michael J Keogh, et al.JAMA Neurology|May 27, 2015
Use of Advanced Magnetic Resonance Imaging Techniques in Neuromyelitis Optica Spectrum DisorderStephane Kremer, Felix Renard, Sophie Achard, et al.Nature Genetics|November 21, 2018
ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysmRussell A Gould, Hamza Aziz, Courtney E Woods, et al.Pageof 267