Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.,Genetics in Medicine

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Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Genetics in Medicine ( IF 6.6 ) Pub Date : 2018-11-01 , DOI: 10.1038/gim.2018.8
Nataliya Di Donato ₁ , Andrew E Timms ₂ , Kimberly A Aldinger ₃ , Ghayda M Mirzaa _{3,

4} , James T Bennett _{2,

4} , Sarah Collins ₃ , Carissa Olds ₃ , Davide Mei ₅ , Sara Chiari ₅ , Gemma Carvill _{4,

6} , Candace T Myers ₄ , Jean-Baptiste Rivière ₇ , Maha S Zaki ₈ , , Joseph G Gleeson ₉ , Andreas Rump ₁ , Valerio Conti ₅ , Elena Parrini ₅ , M Elizabeth Ross ₁₀ , David H Ledbetter ₁₁ , Renzo Guerrini ₅ , William B Dobyns _{3,

4,

12}

Affiliation

Institute for Clinical Genetics, TU Dresden, Dresden, Germany.
Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington, USA.
Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
Department of Pediatrics, University of Washington, Seattle, Washington, USA.
Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Excellence Centre, A. Meyer Children's Hospital, University of Florence, Florence, Italy.
Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Department of Human Genetics, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.
Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Department of Neurosciences, University of California San Diego, La Jolla, California, USA.
Department of Neurology and Neuroscience, Weill Cornell Medical College, New York, New York, USA.
Geisinger Health System, Danville, Pennsylvania, USA.
Department of Neurology, University of Washington, Seattle, Washington, USA.

To estimate diagnostic yield and genotype-phenotype correlations in a cohort of 811 patients with lissencephaly or subcortical band heterotopia.

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