Egor Dolzhenko

Affiliations
  • From Amsterdam University Medical Centers, University of Amsterdam, Departments of Clinical Chemistry, Pediatrics, and Clinical Genetics, Emma Children's Hospital, Amsterdam Gastroenterology and Metabolism (A.B.P.K., R.L., J.K., J. Meijer, L.A.T., M.T., M.W., R.J.A.W., H.R.W., C.D.M.K.), and United for Metabolic Diseases (A.B.P.K., R.J.A.W., H.R.W., C.D.M.K.), Amsterdam, and the Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht (J.J.F.A.V., J.H.V.), and the Project MinE ALS Sequencing Consortium (J.J.F.A.V., J.H.V.), Utrecht - all in the Netherlands; the Departments of Biochemistry and Molecular Biology and Medical Genetics, Cumming School of Medicine, and Alberta Children's Hospital Research Institute, University of Calgary, Calgary (M.T.-G.), Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute (P.A.R., M.J.J., M.S.K., J. MacIsaac, W.W.W., C.D.M.K.), the Faculty of Pharmaceutical Sciences (B.I.D., G.E.B.W., C.J.R.), and the Departments of Medical Genetics (C.M., I.-S.R.-B., W.W.W.) and Pediatrics (C.D.M.K.), University of British Columbia, Vancouver, the Zebrafish Centre for Advanced Drug Discovery, St. Michael's Hospital and University of Toronto (K.B.-A., F.K., M.L., Y.W., X.-Y.W.), the Centre for Applied Genomics, Genetics and Genome Biology, the Hospital for Sick Children (C.N., S.W.S., B.T., R.K.C.Y.), and the Department of Molecular Genetics (C.N., S.W.S., R.K.C.Y.), the McLaughlin Centre (S.W.S.), and the Departments of Medicine, Physiology, and Laboratory Medicine and Pathobiology, Institute of Medical Science (X.-Y.W.), University of Toronto, Toronto, and the Division of Medical Genetics, Department of Pediatrics, Children's Hospital Eastern Ontario, University of Ottawa, Ottawa (J.S.W., M.T.G.) - all in Canada; the Departments of Medicine and Physiology, National University of Singapore (M.A.P.), and the Translational Laboratory in Genetic Medicine, Agency for Science, Technology, and Research (M.A.P., B.S., X.X., J.Z.) - both in Singapore; Uppsala University, Department of Chemistry-Biomedical Center, Uppsala, Sweden (D.D.); Illumina, San Diego, CA (E.D., M.A.E.); Gene Structure and Disease Section, Laboratory of Cell and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD (B.H., D.K., K.U.); and the Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, United Kingdom (S.S.).

Publications (34)

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in

The New England journal of medicine
Avec: André B P van Kuilenburg , Maja Tarailo-Graovac , Phillip A Richmond , Britt I Drögemöller , Mahmoud A Pouladi , René Leen , Koroboshka Brand-Arzamendi , Doreen Dobritzsch , Egor Dolzhenko , Michael A Eberle , Bruce Hayward , Meaghan J Jones , Farhad Karbassi , Michael S Kobor , Janet Koster , Daman Kumari , Meng Li , Julia MacIsaac , Cassandra McDonald , Judith Meijer , Charlotte Nguyen , Indhu-Shree Rajan-Babu , Stephen W Scherer , Bernice Sim , Brett Trost , Laura A Tseng , Marjolein Turkenburg , Joke J F A van Vugt , Jan H Veldink , Jagdeep S Walia , Youdong Wang , Michel van Weeghel , Galen E B Wright , Xiaohong Xu , Ryan K C Yuen , Jinqiu Zhang , Colin J Ross , Wyeth W Wasserman , Michael T Geraghty , Saikat Santra , Ronald J A Wanders , Xiao-Yan Wen , Hans R Waterham , Karen Usdin , Clara D M van Karnebeek

RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci.

Genome biology
Avec: Sarah Fazal , Matt C Danzi , Isaac Xu , Shilpa Nadimpalli Kobren , Shamil Sunyaev , Chloe Reuter , Shruti Marwaha , Matthew Wheeler , Egor Dolzhenko , Francesca Lucas , Stefan Wuchty , Mustafa Tekin , Stephan Züchner , Vanessa Aguiar-Pulido

Analysis and benchmarking of small and large genomic variants across tandem repeats.

Nature biotechnology
Avec: Adam C English , Egor Dolzhenko , Helyaneh Ziaei Jam , Sean K McKenzie , Nathan D Olson , Wouter De Coster , Jonghun Park , Bida Gu , Justin Wagner , Michael A Eberle , Melissa Gymrek , Mark J P Chaisson , Justin M Zook , Fritz J Sedlazeck

A deep population reference panel of tandem repeat variation.

Nature communications
Avec: Helyaneh Ziaei Jam , Yang Li , Ross DeVito , Nima Mousavi , Nichole Ma , Ibra Lujumba , Yagoub Adam , Mikhail Maksimov , Bonnie Huang , Egor Dolzhenko , Yunjiang Qiu , Fredrick Elishama Kakembo , Habi Joseph , Blessing Onyido , Jumoke Adeyemi , Mehrdad Bakhtiari , Jonghun Park , Sara Javadzadeh , Daudi Jjingo , Ezekiel Adebiyi , Vineet Bafna , Melissa Gymrek

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Andrew M Gross , Subramanian S Ajay , Vani Rajan , Carolyn Brown , Krista Bluske , Nicole J Burns , Aditi Chawla , Alison J Coffey , Alka Malhotra , Alicia Scocchia , Erin Thorpe , Natasa Dzidic , Karine Hovanes , Trilochan Sahoo , Egor Dolzhenko , Bryan Lajoie , Amirah Khouzam , Shimul Chowdhury , John Belmont , Eric Roller , Sergii Ivakhno , Stephen Tanner , Julia McEachern , Tina Hambuch , Michael Eberle , R Tanner Hagelstrom , David R Bentley , Denise L Perry , Ryan J Taft

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.

Nature genetics
Avec: Wouter van Rheenen , Rick A A van der Spek , Mark K Bakker , Joke J F A van Vugt , Paul J Hop , Ramona A J Zwamborn , Niek de Klein , Harm-Jan Westra , Olivier B Bakker , Patrick Deelen , Gemma Shireby , Eilis Hannon , Matthieu Moisse , Denis Baird , Restuadi Restuadi , Egor Dolzhenko , Annelot M Dekker , Klara Gawor , Henk-Jan Westeneng , Gijs H P Tazelaar , Kristel R van Eijk , Maarten Kooyman , Ross P Byrne , Mark Doherty , Mark Heverin , Ahmad Al Khleifat , Alfredo Iacoangeli , Aleksey Shatunov , Nicola Ticozzi , Johnathan Cooper-Knock , Bradley N Smith , Marta Gromicho , Siddharthan Chandran , Suvankar Pal , Karen E Morrison , Pamela J Shaw , John Hardy , Richard W Orrell , Michael Sendtner , Thomas Meyer , Nazli Başak , Anneke J van der Kooi , Antonia Ratti , Isabella Fogh , Cinzia Gellera , Giuseppe Lauria , Stefania Corti , Cristina Cereda , Daisy Sproviero , Sandra D'Alfonso , Gianni Sorarù , Gabriele Siciliano , Massimiliano Filosto , Alessandro Padovani , Adriano Chiò , Andrea Calvo , Cristina Moglia , Maura Brunetti , Antonio Canosa , Maurizio Grassano , Ettore Beghi , Elisabetta Pupillo , Giancarlo Logroscino , Beatrice Nefussy , Alma Osmanovic , Angelica Nordin , Yossef Lerner , Michal Zabari , Marc Gotkine , Robert H Baloh , Shaughn Bell , Patrick Vourc'h , Philippe Corcia , Philippe Couratier , Stéphanie Millecamps , Vincent Meininger , François Salachas , Jesus S Mora Pardina , Abdelilah Assialioui , Ricardo Rojas-García , Patrick A Dion , Jay P Ross , Albert C Ludolph , Jochen H Weishaupt , David Brenner , Axel Freischmidt , Gilbert Bensimon , Alexis Brice , Alexandra Durr , Christine A M Payan , Safa Saker-Delye , Nicholas W Wood , Simon Topp , Rosa Rademakers , Lukas Tittmann , Wolfgang Lieb , Andre Franke , Stephan Ripke , Alice Braun , Julia Kraft , David C Whiteman , Catherine M Olsen , Andre G Uitterlinden , Albert Hofman , Marcella Rietschel , Sven Cichon , Markus M Nöthen , Philippe Amouyel , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Bryan J Traynor , Andrew B Singleton , Miguel Mitne Neto , Ruben J Cauchi , Roel A Ophoff , Martina Wiedau-Pazos , Catherine Lomen-Hoerth , Vivianna M van Deerlin , Julian Grosskreutz , Annekathrin Roediger , Nayana Gaur , Alexander Jörk , Tabea Barthel , Erik Theele , Benjamin Ilse , Beatrice Stubendorff , Otto W Witte , Robert Steinbach , Christian A Hübner , Caroline Graff , Lev Brylev , Vera Fominykh , Vera Demeshonok , Anastasia Ataulina , Boris Rogelj , Blaž Koritnik , Janez Zidar , Metka Ravnik-Glavač , Damjan Glavač , Zorica Stević , Vivian Drory , Monica Povedano , Ian P Blair , Matthew C Kiernan , Beben Benyamin , Robert D Henderson , Sarah Furlong , Susan Mathers , Pamela A McCombe , Merrilee Needham , Shyuan T Ngo , Garth A Nicholson , Roger Pamphlett , Dominic B Rowe , Frederik J Steyn , Kelly L Williams , Karen A Mather , Perminder S Sachdev , Anjali K Henders , Leanne Wallace , Mamede de Carvalho , Susana Pinto , Susanne Petri , Markus Weber , Guy A Rouleau , Vincenzo Silani , Charles J Curtis , Gerome Breen , Jonathan D Glass , Robert H Brown , John E Landers , Christopher E Shaw , Peter M Andersen , Ewout J N Groen , Michael A van Es , R Jeroen Pasterkamp , Dongsheng Fan , Fleur C Garton , Allan F McRae , George Davey Smith , Tom R Gaunt , Michael A Eberle , Jonathan Mill , Russell L McLaughlin , Orla Hardiman , Kevin P Kenna , Naomi R Wray , Ellen Tsai , Heiko Runz , Lude Franke , Ammar Al-Chalabi , Philip Van Damme , Leonard H van den Berg , Jan H Veldink

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.

American journal of human genetics
Avec: Haloom Rafehi , Justin Read , David J Szmulewicz , Kayli C Davies , Penny Snell , Liam G Fearnley , Liam Scott , Mirja Thomsen , Greta Gillies , Kate Pope , Mark F Bennett , Jacob E Munro , Kathie J Ngo , Luke Chen , Mathew J Wallis , Ernest G Butler , Kishore R Kumar , Kathy Hc Wu , Susan E Tomlinson , Stephen Tisch , Abhishek Malhotra , Matthew Lee-Archer , Egor Dolzhenko , Michael A Eberle , Leslie J Roberts , Brent L Fogel , Norbert Brüggemann , Katja Lohmann , Martin B Delatycki , Melanie Bahlo , Paul J Lockhart

Recurrent repeat expansions in human cancer genomes.

Nature
Avec: Graham S Erwin , Gamze Gürsoy , Rashid Al-Abri , Ashwini Suriyaprakash , Egor Dolzhenko , Kevin Zhu , Christian R Hoerner , Shannon M White , Lucia Ramirez , Ananya Vadlakonda , Alekhya Vadlakonda , Konor von Kraut , Julia Park , Charlotte M Brannon , Daniel A Sumano , Raushun A Kirtikar , Alicia A Erwin , Thomas J Metzner , Ryan K C Yuen , Alice C Fan , John T Leppert , Michael A Eberle , Mark Gerstein , Michael P Snyder

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.

Nature reviews. Genetics
Avec: Indhu-Shree Rajan-Babu , Egor Dolzhenko , Michael A Eberle , Jan M Friedman

TRGT-denovo: accurate detection of

bioRxiv : the preprint server for biology
Avec: T Mokveld , E Dolzhenko , H Dashnow , T J Nicholas , T Sasani , B van der Sanden , B Jadhav , B Pedersen , Z Kronenberg , A Tucci , A J Sharp , A R Quinlan , C Gilissen , A Hoischen , M A Eberle

Large scale in silico characterization of repeat expansion variation in human genomes.

Scientific data
Avec: Sarah Fazal , Matt C Danzi , Vivian P Cintra , Dana M Bis-Brewer , Egor Dolzhenko , Michael A Eberle , Stephan Zuchner

Genome sequencing in persistently unsolved white matter disorders.

Annals of clinical and translational neurology
Avec: Guy Helman , Bryan R Lajoie , Joanna Crawford , Asako Takanohashi , Marzena Walkiewicz , Egor Dolzhenko , Andrew M Gross , Vladimir G Gainullin , Stephen J Bent , Emma M Jenkinson , Sacha Ferdinandusse , Hans R Waterham , Imen Dorboz , Enrico Bertini , Noriko Miyake , Nicole I Wolf , Truus E M Abbink , Susan M Kirwin , Christina M Tan , Grace M Hobson , Long Guo , Shiro Ikegawa , Amy Pizzino , Johanna L Schmidt , Genevieve Bernard , Raphael Schiffmann , Marjo S van der Knaap , Cas Simons , Ryan J Taft , Adeline Vanderver

Long-Term m5C Methylome Dynamics Parallel Phenotypic Adaptation in the Cyanobacterium Trichodesmium.

Molecular biology and evolution
Avec: Nathan G Walworth , Michael D Lee , Egor Dolzhenko , Fei-Xue Fu , Andrew D Smith , Eric A Webb , David A Hutchins

STRipy: A graphical application for enhanced genotyping of pathogenic short tandem repeats in sequencing data.

Human mutation
Avec: Andreas Halman , Egor Dolzhenko , Alicia Oshlack

Characterization and visualization of tandem repeats at genome scale.

Nature biotechnology
Avec: Egor Dolzhenko , Adam English , Harriet Dashnow , Guilherme De Sena Brandine , Tom Mokveld , William J Rowell , Caitlin Karniski , Zev Kronenberg , Matt C Danzi , Warren A Cheung , Chengpeng Bi , Emily Farrow , Aaron Wenger , Khi Pin Chua , Verónica Martínez-Cerdeño , Trevor D Bartley , Peng Jin , David L Nelson , Stephan Zuchner , Tomi Pastinen , Aaron R Quinlan , Fritz J Sedlazeck , Michael A Eberle

Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing.

NPJ Parkinson's disease
Avec: Pilar Alvarez Jerez , Kensuke Daida , Francis P Grenn , Laksh Malik , Abigail Miano-Burkhardt , Mary B Makarious , Jinhui Ding , J Raphael Gibbs , Anni Moore , Xylena Reed , Mike A Nalls , Syed Shah , Medhat Mahmoud , Fritz J Sedlazeck , Egor Dolzhenko , Morgan Park , Hirotaka Iwaki , Bradford Casey , Mina Ryten , Cornelis Blauwendraat , Andrew B Singleton , Kimberley J Billingsley

Repeat expansions confer WRN dependence in microsatellite-unstable cancers.

Nature
Avec: Niek van Wietmarschen , Sriram Sridharan , William J Nathan , Anthony Tubbs , Edmond M Chan , Elsa Callen , Wei Wu , Frida Belinky , Veenu Tripathi , Nancy Wong , Kyla Foster , Javad Noorbakhsh , Kiran Garimella , Abimael Cruz-Migoni , Joshua A Sommers , Yongqing Huang , Ashir A Borah , Jonathan T Smith , Jeremie Kalfon , Nikolas Kesten , Kasper Fugger , Robert L Walker , Egor Dolzhenko , Michael A Eberle , Bruce E Hayward , Karen Usdin , Catherine H Freudenreich , Robert M Brosh , Stephen C West , Peter J McHugh , Paul S Meltzer , Adam J Bass , André Nussenzweig

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.

American journal of human genetics
Avec: Galen E B Wright , Jennifer A Collins , Chris Kay , Cassandra McDonald , Egor Dolzhenko , Qingwen Xia , Kristina Bečanović , Britt I Drögemöller , Alicia Semaka , Charlotte M Nguyen , Brett Trost , Fiona Richards , Emilia K Bijlsma , Ferdinando Squitieri , Colin J D Ross , Stephen W Scherer , Michael A Eberle , Ryan K C Yuen , Michael R Hayden

Paragraph: a graph-based structural variant genotyper for short-read sequence data.

Genome biology
Avec: Sai Chen , Peter Krusche , Egor Dolzhenko , Rachel M Sherman , Roman Petrovski , Felix Schlesinger , Melanie Kirsche , David R Bentley , Michael C Schatz , Fritz J Sedlazeck , Michael A Eberle

Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions.

Genome medicine
Avec: Indhu-Shree Rajan-Babu , Junran J Peng , Readman Chiu , Auteur inconnu , Auteur inconnu , Chenkai Li , Arezoo Mohajeri , Egor Dolzhenko , Michael A Eberle , Inanc Birol , Jan M Friedman

STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci.

medRxiv : the preprint server for health sciences
Avec: Laurel Hiatt , Ben Weisburd , Egor Dolzhenko , Grace E VanNoy , Edibe Nehir Kurtas , Heidi L Rehm , Aaron Quinlan , Harriet Dashnow

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.

Nature genetics
Avec: David Pellerin , Giulia F Del Gobbo , Madeline Couse , Egor Dolzhenko , Sathiji K Nageshwaran , Warren A Cheung , Isaac R L Xu , Marie-Josée Dicaire , Guinevere Spurdens , Gabriel Matos-Rodrigues , Igor Stevanovski , Carolin K Scriba , Adriana Rebelo , Virginie Roth , Marion Wandzel , Céline Bonnet , Catherine Ashton , Aman Agarwal , Cyril Peter , Dan Hasson , Nadejda M Tsankova , Ken Dewar , Phillipa J Lamont , Nigel G Laing , Mathilde Renaud , Henry Houlden , Matthis Synofzik , Karen Usdin , Andre Nussenzweig , Marek Napierala , Zhao Chen , Hong Jiang , Ira W Deveson , Gianina Ravenscroft , Schahram Akbarian , Michael A Eberle , Kym M Boycott , Tomi Pastinen , Auteur inconnu , Bernard Brais , Stephan Zuchner , Matt C Danzi

REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats.

Genome medicine
Avec: Egor Dolzhenko , Ben Weisburd , Kristina Ibañez , Indhu-Shree Rajan-Babu , Christine Anyansi , Mark F Bennett , Kimberley Billingsley , Ashley Carroll , Samuel Clamons , Matt C Danzi , Viraj Deshpande , Jinhui Ding , Sarah Fazal , Andreas Halman , Bharati Jadhav , Yunjiang Qiu , Phillip A Richmond , Christopher T Saunders , Konrad Scheffler , Joke J F A van Vugt , Ramona R A J Zwamborn , Auteur inconnu , Samuel S Chong , Jan M Friedman , Arianna Tucci , Heidi L Rehm , Michael A Eberle

ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data.

Genome biology
Avec: Egor Dolzhenko , Mark F Bennett , Phillip A Richmond , Brett Trost , Sai Chen , Joke J F A van Vugt , Charlotte Nguyen , Giuseppe Narzisi , Vladimir G Gainullin , Andrew M Gross , Bryan R Lajoie , Ryan J Taft , Wyeth W Wasserman , Stephen W Scherer , Jan H Veldink , David R Bentley , Ryan K C Yuen , Melanie Bahlo , Michael A Eberle

Genome-wide detection of tandem DNA repeats that are expanded in autism.

Nature
Avec: Brett Trost , Worrawat Engchuan , Charlotte M Nguyen , Bhooma Thiruvahindrapuram , Egor Dolzhenko , Ian Backstrom , Mila Mirceta , Bahareh A Mojarad , Yue Yin , Alona Dov , Induja Chandrakumar , Tanya Prasolava , Natalie Shum , Omar Hamdan , Giovanna Pellecchia , Jennifer L Howe , Joseph Whitney , Eric W Klee , Saurabh Baheti , David G Amaral , Evdokia Anagnostou , Mayada Elsabbagh , Bridget A Fernandez , Ny Hoang , M E Suzanne Lewis , Xudong Liu , Calvin Sjaarda , Isabel M Smith , Peter Szatmari , Lonnie Zwaigenbaum , David Glazer , Dean Hartley , A Keith Stewart , Michael A Eberle , Nozomu Sato , Christopher E Pearson , Stephen W Scherer , Ryan K C Yuen

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.

American journal of human genetics
Avec: Haloom Rafehi , David J Szmulewicz , Mark F Bennett , Nara L M Sobreira , Kate Pope , Katherine R Smith , Greta Gillies , Peter Diakumis , Egor Dolzhenko , Michael A Eberle , María García Barcina , David P Breen , Andrew M Chancellor , Phillip D Cremer , Martin B Delatycki , Brent L Fogel , Anna Hackett , G Michael Halmagyi , Solange Kapetanovic , Anthony Lang , Stuart Mossman , Weiyi Mu , Peter Patrikios , Susan L Perlman , Ian Rosemergy , Elsdon Storey , Shaun R D Watson , Michael A Wilson , David S Zee , David Valle , David J Amor , Melanie Bahlo , Paul J Lockhart

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions.

Bioinformatics (Oxford, England)
Avec: Egor Dolzhenko , Viraj Deshpande , Felix Schlesinger , Peter Krusche , Roman Petrovski , Sai Chen , Dorothea Emig-Agius , Andrew Gross , Giuseppe Narzisi , Brett Bowman , Konrad Scheffler , Joke J F A van Vugt , Courtney French , Alba Sanchis-Juan , Kristina Ibáñez , Arianna Tucci , Bryan R Lajoie , Jan H Veldink , F Lucy Raymond , Ryan J Taft , David R Bentley , Michael A Eberle

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.

The Lancet. Neurology
Avec: Kristina Ibañez , James Polke , R Tanner Hagelstrom , Egor Dolzhenko , Dorota Pasko , Ellen Rachel Amy Thomas , Louise C Daugherty , Dalia Kasperaviciute , Katherine R Smith , Auteur inconnu , Zandra C Deans , Sue Hill , Tom Fowler , Richard H Scott , John Hardy , Patrick F Chinnery , Henry Houlden , Augusto Rendon , Mark J Caulfield , Michael A Eberle , Ryan J Taft , Arianna Tucci , Auteur inconnu

Benchmarking of small and large variants across tandem repeats.

bioRxiv : the preprint server for biology
Avec: Adam English , Egor Dolzhenko , Helyaneh Ziaei Jam , Sean Mckenzie , Nathan D Olson , Wouter De Coster , Jonghun Park , Bida Gu , Justin Wagner , Michael A Eberle , Melissa Gymrek , Mark J P Chaisson , Justin M Zook , Fritz J Sedlazeck

A deep population reference panel of tandem repeat variation.

bioRxiv : the preprint server for biology
Avec: Helyaneh Ziaei Jam , Yang Li , Ross DeVito , Nima Mousavi , Nichole Ma , Ibra Lujumba , Yagoub Adam , Mikhail Maksimov , Bonnie Huang , Egor Dolzhenko , Yunjiang Qiu , Fredrick Elishama Kakembo , Habi Joseph , Blessing Onyido , Jumoke Adeyemi , Mehrdad Bakhtiari , Jonghun Park , Sara Javadzadeh , Daudi Jjingo , Ezekiel Adebiyi , Vineet Bafna , Melissa Gymrek

A common flanking variant is associated with enhanced meiotic stability of the

bioRxiv : the preprint server for biology
Avec: David Pellerin , Giulia Del Gobbo , Madeline Couse , Egor Dolzhenko , Marie-Josée Dicaire , Adriana Rebelo , Virginie Roth , Marion Wandzel , Céline Bonnet , Catherine Ashton , Phillipa J Lamont , Nigel G Laing , Mathilde Renaud , Gianina Ravenscroft , Henry Houlden , Matthis Synofzik , Michael A Eberle , Kym M Boycott , Tomi Pastinen , Auteur inconnu , Bernard Brais , Stephan Zuchner , Matt C Danzi

A familial, telomere-to-telomere reference for human

bioRxiv : the preprint server for biology
Avec: David Porubsky , Harriet Dashnow , Thomas A Sasani , Glennis A Logsdon , Pille Hallast , Michelle D Noyes , Zev N Kronenberg , Tom Mokveld , Nidhi Koundinya , Cillian Nolan , Cody J Steely , Andrea Guarracino , Egor Dolzhenko , William T Harvey , William J Rowell , Kirill Grigorev , Thomas J Nicholas , Keisuke K Oshima , Jiadong Lin , Peter Ebert , W Scott Watkins , Tiffany Y Leung , Vincent C T Hanlon , Sean McGee , Brent S Pedersen , Michael E Goldberg , Hannah C Happ , Hyeonsoo Jeong , Katherine M Munson , Kendra Hoekzema , Daniel D Chan , Yanni Wang , Jordan Knuth , Gage H Garcia , Cairbre Fanslow , Christine Lambert , Charles Lee , Joshua D Smith , Shawn Levy , Christopher E Mason , Erik Garrison , Peter M Lansdorp , Deborah W Neklason , Lynn B Jorde , Aaron R Quinlan , Michael A Eberle , Evan E Eichler

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.

Nature genetics
Avec: Bharati Jadhav , Paras Garg , Joke J F A van Vugt , Kristina Ibanez , Delia Gagliardi , William Lee , Mariya Shadrina , Tom Mokveld , Egor Dolzhenko , Alejandro Martin-Trujillo , Scott J Gies , Gabrielle Altman , Clarissa Rocca , Mafalda Barbosa , Miten Jain , Nayana Lahiri , Katherine Lachlan , Henry Houlden , Benedict Paten , Auteur inconnu , Auteur inconnu , Jan Veldink , Arianna Tucci , Andrew J Sharp

Huntington's disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration.

Journal of neurology, neurosurgery, and psychiatry
Avec: Carolin Anna Maria Koriath , Fernando Guntoro , Penelope Norsworthy , Egor Dolzhenko , Michael Eberle , Davina J Hensman Moss , Michael Flower , Holger Hummerich , Anne Elizabeth Rosser , Sarah J Tabrizi , Simon Mead , Edward J Wild

Réseau de co-auteurs

Michael A Eberle 22 collaborations
None None 13 collaborations
Joke J F A van Vugt 6 collaborations
Matt C Danzi 6 collaborations
Ryan K C Yuen 5 collaborations
Fritz J Sedlazeck 5 collaborations
Ryan J Taft 5 collaborations
Indhu-Shree Rajan-Babu 4 collaborations
Stephen W Scherer 4 collaborations
Brett Trost 4 collaborations
Jan H Veldink 4 collaborations
Helyaneh Ziaei Jam 4 collaborations
Jonghun Park 4 collaborations
Melissa Gymrek 4 collaborations
David R Bentley 4 collaborations
Mark F Bennett 4 collaborations
Stephan Zuchner 4 collaborations
Henry Houlden 4 collaborations
Arianna Tucci 4 collaborations
Phillip A Richmond 3 collaborations
Karen Usdin 3 collaborations
Sarah Fazal 3 collaborations
Yunjiang Qiu 3 collaborations
Andrew M Gross 3 collaborations
Melanie Bahlo 3 collaborations
Jan M Friedman 3 collaborations
Bryan R Lajoie 3 collaborations
Harriet Dashnow 3 collaborations
Tom Mokveld 3 collaborations
Tomi Pastinen 3 collaborations
Sai Chen 3 collaborations
Britt I Drögemöller 2 collaborations
Cassandra McDonald 2 collaborations
Charlotte Nguyen 2 collaborations
Galen E B Wright 2 collaborations
Wyeth W Wasserman 2 collaborations
Hans R Waterham 2 collaborations
Nathan D Olson 2 collaborations
Wouter De Coster 2 collaborations
Bida Gu 2 collaborations
Justin Wagner 2 collaborations
Mark J P Chaisson 2 collaborations
Justin M Zook 2 collaborations
Yang Li 2 collaborations
Ross DeVito 2 collaborations
Nima Mousavi 2 collaborations
Nichole Ma 2 collaborations
Ibra Lujumba 2 collaborations
Yagoub Adam 2 collaborations
Mikhail Maksimov 2 collaborations
Bonnie Huang 2 collaborations
Fredrick Elishama Kakembo 2 collaborations
Habi Joseph 2 collaborations
Blessing Onyido 2 collaborations
Jumoke Adeyemi 2 collaborations
Mehrdad Bakhtiari 2 collaborations
Sara Javadzadeh 2 collaborations
Daudi Jjingo 2 collaborations
Ezekiel Adebiyi 2 collaborations
Vineet Bafna 2 collaborations
Michael Eberle 2 collaborations
R Tanner Hagelstrom 2 collaborations
John Hardy 2 collaborations
Andrew B Singleton 2 collaborations
Haloom Rafehi 2 collaborations
David J Szmulewicz 2 collaborations
Greta Gillies 2 collaborations
Kate Pope 2 collaborations
Brent L Fogel 2 collaborations
Martin B Delatycki 2 collaborations
Paul J Lockhart 2 collaborations
Vladimir G Gainullin 2 collaborations
Andreas Halman 2 collaborations
Adam English 2 collaborations
William J Rowell 2 collaborations
Warren A Cheung 2 collaborations
Aaron R Quinlan 2 collaborations
Jinhui Ding 2 collaborations
Charlotte M Nguyen 2 collaborations
Peter Krusche 2 collaborations
Roman Petrovski 2 collaborations
Felix Schlesinger 2 collaborations
Ben Weisburd 2 collaborations
Heidi L Rehm 2 collaborations
David Pellerin 2 collaborations
Madeline Couse 2 collaborations
Marie-Josée Dicaire 2 collaborations
Adriana Rebelo 2 collaborations
Virginie Roth 2 collaborations
Marion Wandzel 2 collaborations
Céline Bonnet 2 collaborations
Catherine Ashton 2 collaborations
Phillipa J Lamont 2 collaborations
Nigel G Laing 2 collaborations
Mathilde Renaud 2 collaborations
Matthis Synofzik 2 collaborations
Gianina Ravenscroft 2 collaborations
Kym M Boycott 2 collaborations
Bernard Brais 2 collaborations
Kristina Ibañez 2 collaborations
Viraj Deshpande 2 collaborations
Bharati Jadhav 2 collaborations
Konrad Scheffler 2 collaborations
Giuseppe Narzisi 2 collaborations
Katherine R Smith 2 collaborations
André B P van Kuilenburg 1 collaboration
Maja Tarailo-Graovac 1 collaboration
Mahmoud A Pouladi 1 collaboration
René Leen 1 collaboration
Koroboshka Brand-Arzamendi 1 collaboration
Doreen Dobritzsch 1 collaboration
Bruce Hayward 1 collaboration
Meaghan J Jones 1 collaboration
Farhad Karbassi 1 collaboration
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