Slave Petrovski

Slave Petrovski

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Slave Petrovski

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Rare-variant collapsing analyses for complex traits: guidelines and applications.

Nat Rev Genet 2019 Oct 11. Epub 2019 Oct 11.

Institute for Genomic Medicine, Columbia University Irving Medical Center, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1038/s41576-019-0177-4DOI Listing
October 2019

Epilepsy genetics: clinical impacts and biological insights.

Lancet Neurol 2019 Sep 4. Epub 2019 Sep 4.

Epilepsy Research Centre, Department of Medicine, University of Melbourne (Austin Health), Heidelberg, VIC, Australia. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(19)30269-8DOI Listing
September 2019

MTR-Viewer: identifying regions within genes under purifying selection.

Nucleic Acids Res 2019 Jul;47(W1):W121-W126

Department of Biochemistry and Molecular Biology, University of Melbourne, Melbourne, VIC 3052, Australia.

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http://dx.doi.org/10.1093/nar/gkz457DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6602522PMC
July 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 Mar 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.

Lancet 2019 02 31;393(10173):758-767. Epub 2019 Jan 31.

Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA; Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, USA. Electronic address:

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http://dx.doi.org/10.1016/S0140-6736(18)32042-7DOI Listing
February 2019

Diagnostic Utility of Exome Sequencing for Kidney Disease.

N Engl J Med 2019 01 26;380(2):142-151. Epub 2018 Dec 26.

From the Departments of Medicine (E.E.G., M.M., H.M.-R., Y.L., J.Z., J.N., P.K., W.Y.L., A.M., S. Piva, B.H.K., D.C., R.R., D.B., M.D., H.S., X.M., K.M., O.B., J.R., P.C., G.B.A., A.S.B., W.A., D.J.C., R.J.C., G.K.D., M.K.R., S.M., S.S.-C., K.K., A.G.G.) and Pediatrics (N.S.U.), Division of Nephrology, the Departments of Pathology (V.S.A.), Biomedical Informatics (D.A.F., C.W.), and Urology (S.A.), the Institute for Genomic Medicine (S.K., B.C., Z.R., J.B., C.D.M., C.M.M., N.D., D.B.G., A.G.G.) and the Department of Genetics and Development (D.B.G.), Hammer Health Sciences, and the Department of Epidemiology, Mailman School of Public Health (S.M.), Columbia University, New York; AstraZeneca Centre for Genomics Research, Precision Medicine and Genomics, Innovative Medicines and Early Development (IMED) Biotech Unit, Cambridge, United Kingdom (S.C.-C., S. Petrovski, C.H., J.F., R.M., A.P.); and the Department of Medical Science, Renal Unit, Uppsala University Hospital, Uppsala, Sweden (B.C.F.).

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http://www.nejm.org/doi/10.1056/NEJMoa1806891
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http://dx.doi.org/10.1056/NEJMoa1806891DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6510541PMC
January 2019

Development of a rapid functional assay that predicts GLUT1 disease severity.

Neurol Genet 2018 Dec 6;4(6):e297. Epub 2018 Dec 6.

Florey Institute of Neuroscience and Mental Health (S.M.Z., S.A.M., S.M., E.V.G., A.M.P., G.D.J., I.E.S., C.A.R., S. Petrou.); Department of Medicine (RMH) University of Melbourne (S.M.Z., S. Petrovski, M.S.H., J.D., S. Petrou); Department of Medicine (Austin Health) (M.S.H., J.D., S.F.B., I.E.S.), University of Melbourne, Heidelberg; Department of Neurology and Epileptology (H.L., Y.G.W.), Hertie Institute for Clinical Brain Research, University of Tübingen; School of Biosciences (A.M.P.), University of Melbourne, Parkville, Australia; APHP (S.A.), Hôpital Robert Debré, Service de Neurologie Pédiatrique; Univ Paris Diderot (S.A.), Sorbonne Paris Cité, INSERM UMR1141, Paris, France; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Parkville, Australia.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6290489PMC
December 2018

Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease.

Ann Clin Transl Neurol 2018 Jul 24;5(7):832-842. Epub 2018 May 24.

The Taub Institute for Research on Alzheimer's Disease and the Aging Brain College of Physicians and Surgeons Columbia University The New York Presbyterian Hospital New York New York.

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http://dx.doi.org/10.1002/acn3.582DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6043775PMC
July 2018

Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.

Am J Med Genet A 2017 Dec 22;173(12):3158-3164. Epub 2017 Sep 22.

Department of Pediatrics, Division of Clinical Genetics, Columbia University Medical Center (CUMC), New York, New York.

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http://dx.doi.org/10.1002/ajmg.a.38460DOI Listing
December 2017

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Genome Res 2017 10 1;27(10):1715-1729. Epub 2017 Sep 1.

Department of Medicine, The University of Melbourne, Austin Health and Royal Melbourne Hospital, Melbourne, Victoria 3010, Australia.

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http://dx.doi.org/10.1101/gr.226589.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630035PMC
October 2017

ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Neurol Genet 2017 Aug 6;3(4):e163. Epub 2017 Jul 6.

Department of Medicine (C.A.B., S.P., K.L.O., S.F.B.), Epilepsy Research Centre; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1212/NXG.0000000000000163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5503456PMC
August 2017

Annotating pathogenic non-coding variants in genic regions.

Nat Commun 2017 08 9;8(1):236. Epub 2017 Aug 9.

Institute for Genomic Medicine, Columbia University Medical Center, New York, New York, 10032, USA.

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http://dx.doi.org/10.1038/s41467-017-00141-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5550444PMC
August 2017

Is a microRNA-328 binding site in associated with Rolandic epilepsy?

Ann Clin Transl Neurol 2017 04 23;4(4):276-277. Epub 2017 Mar 23.

Epilepsy Research Centre Department of Medicine University of Melbourne Austin Health Heidelberg Victoria 3084 Australia.

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http://dx.doi.org/10.1002/acn3.401DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5376748PMC
April 2017

The importance of dynamic re-analysis in diagnostic whole exome sequencing.

J Med Genet 2017 03 29;54(3):155-156. Epub 2016 Nov 29.

Institute for Genomic Medicine, Columbia University, New York, New York, USA.

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http://dx.doi.org/10.1136/jmedgenet-2016-104306DOI Listing
March 2017

Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

Epilepsy Res 2016 12 25;128:48-51. Epub 2016 Oct 25.

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2016.10.008DOI Listing
December 2016

Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.

Am J Hum Genet 2016 Dec 10;99(6):1261-1280. Epub 2016 Nov 10.

Department of Pharmacology, Emory University School of Medicine, Atlanta, GA 30322, USA; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA 30322, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142120PMC
December 2016

Inhibition of microRNA 128 promotes excitability of cultured cortical neuronal networks.

Genome Res 2016 10 11;26(10):1411-1416. Epub 2016 Aug 11.

Institute for Genomic Medicine, Columbia University Medical Center, New York, New York 10032, USA; Department of Genetics and Development, Columbia University Medical Center, New York, New York 10032, USA.

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http://dx.doi.org/10.1101/gr.199828.115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5052052PMC
October 2016

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Am J Hum Genet 2016 09 18;99(3):711-719. Epub 2016 Aug 18.

Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(16)30267-1.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971630267
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http://dx.doi.org/10.1016/j.ajhg.2016.06.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044PMC
September 2016

Mosaic mutations in early-onset genetic diseases.

Genet Med 2016 07 30;18(7):746-9. Epub 2015 Dec 30.

Comprehensive Epilepsy Center, Department of Neurology, NYU Langone Medical Center, New York, New York, USA.

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http://dx.doi.org/10.1038/gim.2015.155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929028PMC
July 2016

Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine.

Genome Biol 2016 07 14;17(1):157. Epub 2016 Jul 14.

Institute for Genomic Medicine, Columbia University, New York, New York, USA.

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http://dx.doi.org/10.1186/s13059-016-1016-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4944427PMC
July 2016

The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity.

PLoS Genet 2015 Sep 2;11(9):e1005492. Epub 2015 Sep 2.

Institute for Genomic Medicine, Columbia University, New York, New York, United States of America; Center for Human Genome Variation, Duke University, School of Medicine, Durham, North Carolina, United States of America.

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http://search.proquest.com/openview/8c0e2ff44fdb4211db064b3c
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http://dx.plos.org/10.1371/journal.pgen.1005492
Publisher Site
http://dx.doi.org/10.1371/journal.pgen.1005492DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4557908PMC
September 2015

Incorporating Functional Information in Tests of Excess De Novo Mutational Load.

Am J Hum Genet 2015 Aug 30;97(2):272-83. Epub 2015 Jul 30.

Department of Biostatistics and Bioinformatics, Duke University, Durham, NC 27710, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.06.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573447PMC
August 2015

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.

N Engl J Med 2015 Jun;372(25):2409-22

From the Division of Immunology (K.D., J.C., S.K., M.J.M., K.C., K.F., T.A.C., R.S.G., L.D.N.) and Manton Center for Orphan Disease Research (L.D.N.), Boston Children's Hospital, and Department of Molecular Biology, Massachusetts General Hospital (T.K.O.), Boston, Harvard Stem Cell Institute, Harvard University, Cambridge (L.D.N.), and Department of Pediatrics, University of Massachusetts Medical School, Worcester (A.M.C.) - all in Massachusetts; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (C.D.C., I.B., N.K.S., M.S., C.B., K.B.), Department of Pediatrics and Adolescent Medicine, Medical University of Vienna (K.B.), and CeRUD Vienna Center for Rare and Undiagnosed Diseases (K.B.) - all in Vienna; St. Giles Laboratory of Human Genetics of Infectious Disease, Rockefeller Branch, Rockefeller University (S.-Y.Z., M.A., S.O., B.B., Y.I., L.A., J.-L.C.), and Institute for Genomic Medicine, Columbia University (S. Petrovski, D.B.G.) - both in New York; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 (S.-Y.Z., V.P., L.A., J.-L.C.), Paris Descartes University, Sorbonne Paris Cité, Imagine Institute (S.-Y.Z., F.R., P.L., L.A., J.-L.C.), and Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children (J.-L.C.) - all in Paris; Howard Hughes Medical Institute, Chevy Chase, MD (J.-L.C.); Department of Molecular and Translational Medicine, University of Brescia, Brescia (S. Parolini, O.P., G.T.), and Department of Experimental Medicine and Center of Excellence for Biomedical Research, University of Genoa, Genoa (A.M.) - both in Italy; Folkhälsan Institute of Genetics and Research Programs Unit, Molecular Neurology (E.H.), Institute for Molecular Medicine Finland (J.S.), Children's Hospital (M.K.), Research Programs Unit, Diabetes and Obesity Research Program (M.K.), and Folkhälsan Research Center (M.K.), University of Helsinki and Helsinki University Central Hospital, Helsinki, Tampere Center

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http://dx.doi.org/10.1056/NEJMoa1413462DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4480434PMC
June 2015

Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis.

Neurol Genet 2015 Jun 17;1(1):e4. Epub 2015 Apr 17.

Department of Molecular Genetics and Microbiology (S.S.B.), Duke University School of Medicine (R.S.D., S.S.B., X.Y.), Durham, NC; Institute for Genomic Medicine (E.L.H., S.P., B.J.K., D.B.G.), Columbia University, New York, NY; Department of Medicine (S. Petrovski), The University of Melbourne, Austin Health and Royal Melbourne Hospital, Melbourne, Australia; Centre for Clinical Translation (M.R.J.), Division of Brain Sciences, Imperial College London, Charing Cross Hospital Campus, London, United Kingdom; The Jackson Laboratory (W.N.F., R.M.B.), Bar Harbor, ME; and Division of Epilepsy (S. Petrou), The Florey Institute of Neuroscience, Victoria, Australia.

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http://dx.doi.org/10.1212/01.NXG.0000464295.65736.daDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821085PMC
June 2015

Validation of a multigenic model to predict seizure control in newly treated epilepsy.

Epilepsy Res 2014 Dec 16;108(10):1797-805. Epub 2014 Sep 16.

Department of Molecular and Clinical Pharmacology, University of Liverpool, Liverpool, UK. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2014.08.022DOI Listing
December 2014

Phenomics and the interpretation of personal genomes.

Sci Transl Med 2014 Sep;6(254):254fs35

Center for Human Genome Variation, Duke University School of Medicine, Durham, NC, 27708, USA.

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http://dx.doi.org/10.1126/scitranslmed.3010272DOI Listing
September 2014

One gene, many neuropsychiatric disorders: lessons from Mendelian diseases.

Nat Neurosci 2014 Jun 27;17(6):773-81. Epub 2014 May 27.

Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA.

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http://psych.colorado.edu/~carey/pdffiles/mendelianpsychiatr
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http://www.nature.com/doifinder/10.1038/nn.3713
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http://dx.doi.org/10.1038/nn.3713DOI Listing
June 2014

Genic intolerance to functional variation and the interpretation of personal genomes.

PLoS Genet 2013 22;9(8):e1003709. Epub 2013 Aug 22.

Center for Human Genome Variation, Duke University, School of Medicine, Durham, North Carolina, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1003709DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3749936PMC
March 2014

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

Brain 2013 Oct 6;136(Pt 10):3140-50. Epub 2013 Sep 6.

1 NIHR University College London Hospitals Biomedical Research Centre, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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https://academic.oup.com/brain/article/136/10/3140/330027
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http://dx.doi.org/10.1093/brain/awt233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3784283PMC
October 2013

De novo mutations in epileptic encephalopathies.

Nature 2013 Sep 11;501(7466):217-21. Epub 2013 Aug 11.

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http://dx.doi.org/10.1038/nature12439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3773011PMC
September 2013

Time-frequency mapping of the rhythmic limb movements distinguishes convulsive epileptic from psychogenic nonepileptic seizures.

Epilepsia 2013 Aug 3;54(8):1402-8. Epub 2013 May 3.

Department of Neurology, The Melbourne Brain Centre, The Royal Melbourne Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1111/epi.12207DOI Listing
August 2013

Sequencing studies in human genetics: design and interpretation.

Nat Rev Genet 2013 Jul 11;14(7):460-70. Epub 2013 Jun 11.

Center for Human Genome Variation, Duke University School of Medicine, 308 Research Drive, Box 91009, LSRC B Wing, Room 330, Durham, North Carolina 27708, USA.

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http://dx.doi.org/10.1038/nrg3455DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4117319PMC
July 2013

Unraveling the genetics of common epilepsies: approaches, platforms, and caveats.

Epilepsy Behav 2013 Mar 26;26(3):229-33. Epub 2012 Oct 26.

Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.yebeh.2012.09.007DOI Listing
March 2013

A genome-wide comparison of the functional properties of rare and common genetic variants in humans.

Am J Hum Genet 2011 Apr 31;88(4):458-68. Epub 2011 Mar 31.

Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708, USA.

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http://dx.doi.org/10.1016/j.ajhg.2011.03.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3071924PMC
April 2011

Multi-SNP pharmacogenomic classifier is superior to single-SNP models for predicting drug outcome in complex diseases.

Pharmacogenet Genomics 2009 Feb;19(2):147-52

Departments of Medicine, Surgery and Neurology, BioGrid Australia.

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http://dx.doi.org/10.1097/FPC.0b013e32831d1dfaDOI Listing
February 2009