Daniel C Koboldt

Affiliations
  • The Steve and Cindy Rasmussen Institute for Genomic Medicine (K.E.M., D.C.K., K.M.S., T.A.B., E.C., K.L., V.M., H.Z., P.B., J.B., J.F., N.B., A.R.M., C.E.C., P.W., R.K.W., E.R.M.), Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH; Division of Genetic and Genomic Medicine (E.C.), Nationwide Children's Hospital, Columbus, OH; Department of Neurosurgery (A.S., J.L., J.A.P.), Nationwide Children's Hospital, Columbus, OH; Department of Pathology and Laboratory Medicine (C.R.P.), Nationwide Children's Hospital, Columbus, OH; Division of Child Neurology (A.P.O.), Nationwide Children's Hospital, Columbus, OH; Department of Radiology (J.A.R., S.H.S), Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics (D.C.K., V.M., C.E.C., J.L., P.W., R.K.W, E.R.M., A.P.O.), The Ohio State University College of Medicine, Columbus, OH; Department of Neurosurgery (J.L., J.A.P., A.P.O.), The Ohio State University College of Medicine, Columbus, OH; Department of Pathology (C.E.C., C.R.P.), The Ohio State University College of Medicine, Columbus, OH; and Department of Biomedical Education & Anatomy (C.R.P.), Division of Anatomy, The Ohio State University College of Medicine, Columbus, OH.

Publications (45)

Somatic

Neurology. Genetics
Avec: Katherine E Miller , Daniel C Koboldt , Kathleen M Schieffer , Tracy A Bedrosian , Erin Crist , Adrienne Sheline , Kristen Leraas , Vincent Magrini , Huachun Zhong , Patrick Brennan , Jocelyn Bush , James Fitch , Natalie Bir , Anthony R Miller , Catherine E Cottrell , Jeffrey Leonard , Jonathan A Pindrik , Jerome A Rusin , Summit H Shah , Peter White , Richard K Wilson , Elaine R Mardis , Christopher R Pierson , Adam P Ostendorf

Discovery of clinically relevant fusions in pediatric cancer.

BMC genomics
Avec: Stephanie LaHaye , James R Fitch , Kyle J Voytovich , Adam C Herman , Benjamin J Kelly , Grant E Lammi , Jeremy A Arbesfeld , Saranga Wijeratne , Samuel J Franklin , Kathleen M Schieffer , Natalie Bir , Sean D McGrath , Anthony R Miller , Amy Wetzel , Katherine E Miller , Tracy A Bedrosian , Kristen Leraas , Elizabeth A Varga , Kristy Lee , Ajay Gupta , Bhuvana Setty , Daniel R Boué , Jeffrey R Leonard , Jonathan L Finlay , Mohamed S Abdelbaki , Diana S Osorio , Selene C Koo , Daniel C Koboldt , Alex H Wagner , Ann-Kathrin Eisfeld , Krzysztof Mrózek , Vincent Magrini , Catherine E Cottrell , Elaine R Mardis , Richard K Wilson , Peter White

PTEN somatic mutations contribute to spectrum of cerebral overgrowth.

Brain : a journal of neurology
Avec: Daniel C Koboldt , Katherine E Miller , Anthony R Miller , Jocelyn M Bush , Sean McGrath , Kristen Leraas , Erin Crist , Summer Fair , Wesley Schwind , Saranga Wijeratne , James Fitch , Jeffrey Leonard , Ammar Shaikhouni , Mark E Hester , Vincent Magrini , Mai-Lan Ho , Christopher R Pierson , Richard K Wilson , Adam P Ostendorf , Elaine R Mardis , Tracy A Bedrosian

Germline BAP1 Mutation in a Family With Multi-Generational Meningioma With Rhabdoid Features: A Case Series and Literature Review.

Frontiers in oncology
Avec: Rahul N Prasad , Ulysses G Gardner , Alexander Yaney , Daniel M Prevedello , Daniel C Koboldt , Diana L Thomas , Elaine R Mardis , Joshua D Palmer

Hypomorphic alleles pose challenges in rare disease genomic variant interpretation.

Clinical genetics
Avec: Daniel K Nolan , Bimal Chaudhari , Samuel J Franklin , Saranga Wijeratne , Ruthann Pfau , Theresa Mihalic Mosher , Erin Crist , Kim L McBride , Peter White , Richard K Wilson , Scott E Hickey , Daniel C Koboldt

Inherited and de novo variants extend the etiology of

Cold Spring Harbor molecular case studies
Avec: Jesse M Hunter , Lauren J Massingham , Kandamurugu Manickam , Dennis Bartholomew , Rachel K Williamson , Jennifer L Schwab , Mohammad Marhabaie , Amy Siemon , Emily de Los Reyes , Shalini C Reshmi , Catherine E Cottrell , Richard K Wilson , Daniel C Koboldt

Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case-based review.

Genes, chromosomes & cancer
Avec: Flavia Watusi De Faria , Kathleen M Schieffer , Christopher R Pierson , Daniel R Boue , Stephanie LaHaye , Katherine E Miller , Nisreen Amayiri , Daniel C Koboldt , Tara Lichtenberg , Kristen Leraas , Patrick Brennan , Ben Kelly , Peter White , Vincent Magrini , Richard K Wilson , Elaine R Mardis , Catherine E Cottrell , Jerome Rusin , Jonathan L Finlay , Diana S Osorio

Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy.

Nature genetics
Avec: Katherine E Miller , Adithe C Rivaldi , Noriyuki Shinagawa , Sahib Sran , Jason B Navarro , Jesse J Westfall , Anthony R Miller , Ryan D Roberts , Yassmine Akkari , Rachel Supinger , Mark E Hester , Mohammad Marhabaie , Meethila Gade , Jinfeng Lu , Olga Rodziyevska , Meenakshi B Bhattacharjee , Gretchen K Von Allmen , Edward Yang , Hart G W Lidov , Chellamani Harini , Manish N Shah , Jeffrey Leonard , Jonathan Pindrik , Ammar Shaikhouni , James E Goldman , Christopher R Pierson , Diana L Thomas , Daniel R Boué , Adam P Ostendorf , Elaine R Mardis , Annapurna Poduri , Daniel C Koboldt , Erin L Heinzen , Tracy A Bedrosian

Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.

Human mutation
Avec: Anna Morgan , Daniel C Koboldt , Elizabeth S Barrie , Erin R Crist , Gema García García , Massimo Mezzavilla , Flavio Faletra , Theresa Mihalic Mosher , Richard K Wilson , Catherine Blanchet , Kandamurugu Manickam , Anne-Francoise Roux , Paolo Gasparini , Daniele Dell'Orco , Giorgia Girotto

Maternal mosaicism for a missense variant in the

Cold Spring Harbor molecular case studies
Avec: Mohammad Marhabaie , Scott E Hickey , Katherine Miller , Olivia Grischow , Kathleen M Schieffer , Samuel J Franklin , David M Gordon , Samantha Choi , Theresa Mihalic Mosher , Peter White , Daniel C Koboldt , Richard K Wilson

YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas.

The American journal of surgical pathology
Avec: Kathleen M Schieffer , Vibhuti Agarwal , Stephanie LaHaye , Katherine E Miller , Daniel C Koboldt , Tara Lichtenberg , Kristen Leraas , Patrick Brennan , Benjamin J Kelly , Erin Crist , Jerome Rusin , Jonathan L Finlay , Diana S Osorio , Eric A Sribnick , Jeffrey R Leonard , Alexander Feldman , Brent A Orr , Jonathan Serrano , Varshini Vasudevaraja , Matija Snuderl , Peter White , Vincent Magrini , Richard K Wilson , Elaine R Mardis , Daniel R Boué , Catherine E Cottrell

Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant.

Rheumatology (Oxford, England)
Avec: Kelsey Lecerf , Daniel C Koboldt , Hye Sun Kuehn , Vijayakumar Jayaraman , Kristy Lee , Theresa Mihalic Mosher , Jennifer R Yonkof , Mari Mori , Scott E Hickey , Samuel Franklin , Joanne Drew , Shoghik Akoghlanian , Vidya Sivaraman , Sergio D Rosenzweig , Richard K Wilson , Roshini S Abraham

Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report.

Frontiers in genetics
Avec: Andrew D Franklin , Bimal P Chaudhari , Daniel C Koboldt , Kerri Z Machut

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Marjolein J A Weerts , Kristina Lanko , Francisco J Guzmán-Vega , Adam Jackson , Reshmi Ramakrishnan , Kelly J Cardona-Londoño , Karla A Peña-Guerra , Yolande van Bever , Barbara W van Paassen , Anneke Kievit , Marjon van Slegtenhorst , Nicholas M Allen , Caroline M Kehoe , Hannah K Robinson , Lewis Pang , Selina H Banu , Mashaya Zaman , Stephanie Efthymiou , Henry Houlden , Irma Järvelä , Leena Lauronen , Tuomo Määttä , Isabelle Schrauwen , Suzanne M Leal , Claudia A L Ruivenkamp , Daniela Q C M Barge-Schaapveld , Cacha M P C D Peeters-Scholte , Hamid Galehdari , Neda Mazaheri , Sanjay M Sisodiya , Victoria Harrison , Angela Sun , Jenny Thies , Luis Alberto Pedroza , Yana Lara-Taranchenko , Ivan K Chinn , James R Lupski , Alexandra Garza-Flores , Jeffery McGlothlin , Lin Yang , Shaoping Huang , Xiaodong Wang , Tamison Jewett , Gretchen Rosso , Xi Lin , Shehla Mohammed , J Lawrence Merritt , Ghayda M Mirzaa , Andrew E Timms , Joshua Scheck , Mariet W Elting , Abeltje M Polstra , Lauren Schenck , Maura R Z Ruzhnikov , Annalisa Vetro , Martino Montomoli , Renzo Guerrini , Daniel C Koboldt , Theresa Mihalic Mosher , Matthew T Pastore , Kim L McBride , Jing Peng , Zou Pan , Marjolein Willemsen , Susanne Koning , Peter D Turnpenny , Bert B A de Vries , Christian Gilissen , Rolph Pfundt , Melissa Lees , Stephen R Braddock , Kara C Klemp , Fleur Vansenne , Marielle E van Gijn , Catherine Quindipan , Matthew A Deardorff , J Austin Hamm , Abbey M Putnam , Rebecca Baud , Laurence Walsh , Sally A Lynch , Julia Baptista , Richard E Person , Kristin G Monaghan , Amy Crunk , Jennifer Keller-Ramey , Adi Reich , Houda Zghal Elloumi , Marielle Alders , Jennifer Kerkhof , Haley McConkey , Sadegheh Haghshenas , Auteur inconnu , Reza Maroofian , Bekim Sadikovic , Siddharth Banka , Stefan T Arold , Tahsin Stefan Barakat

Cerebral organoids containing an AUTS2 missense variant model microcephaly.

Brain : a journal of neurology
Avec: Summer R Fair , Wesley Schwind , Dominic L Julian , Alecia Biel , Gongbo Guo , Ryan Rutherford , Swetha Ramadesikan , Jesse Westfall , Katherine E Miller , Meisam Naeimi Kararoudi , Scott E Hickey , Theresa Mihalic Mosher , Kim L McBride , Reid Neinast , James Fitch , Dean A Lee , Peter White , Richard K Wilson , Tracy A Bedrosian , Daniel C Koboldt , Mark E Hester

Novel inherited CDX2 variant segregating in a family with diverse congenital malformations of the genitourinary system.

Cold Spring Harbor molecular case studies
Avec: Swetha Ramadesikan , Caitlyn M Colwell , Rachel Supinger , Jesse Hunter , Jessica Thomas , Elizabeth Varga , Elaine R Mardis , Richard J Wood , Daniel C Koboldt

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

American journal of human genetics
Avec: Maolei Gong , Jiayi Li , Zailong Qin , Matheus Vernet Machado Bressan Wilke , Yijun Liu , Qian Li , Haoran Liu , Chen Liang , Joel A Morales-Rosado , Ana S A Cohen , Susan S Hughes , Bonnie R Sullivan , Valerie Waddell , Marie-José H van den Boogaard , Richard H van Jaarsveld , Ellen van Binsbergen , Koen L van Gassen , Tianyun Wang , Susan M Hiatt , Michelle D Amaral , Whitley V Kelley , Jianbo Zhao , Weixing Feng , Changhong Ren , Yazhen Yu , Nicole J Boczek , Matthew J Ferber , Carrie Lahner , Sherr Elliott , Yiyan Ruan , Cyril Mignot , Boris Keren , Hua Xie , Xiaoyan Wang , Bernt Popp , Christiane Zweier , Juliette Piard , Christine Coubes , Frederic Tran Mau-Them , Hana Safraou , A Micheil Innes , Julie Gauthier , Jacques L Michaud , Daniel C Koboldt , Odent Sylvie , Marjolaine Willems , Wen-Hann Tan , Benjamin Cogne , Claudine Rieubland , Dominique Braun , Scott Douglas McLean , Konrad Platzer , Pia Zacher , Henry Oppermann , Lucie Evenepoel , Pierre Blanc , Laïla El Khattabi , Neshatul Haque , Nikita R Dsouza , Michael T Zimmermann , Raul Urrutia , Eric W Klee , Yiping Shen , Hongzhen Du , Leonard Rappaport , Chang-Mei Liu , Xiaoli Chen

Exome sequencing of Finnish isolates enhances rare-variant association power.

Nature
Avec: Adam E Locke , Karyn Meltz Steinberg , Charleston W K Chiang , Susan K Service , Aki S Havulinna , Laurel Stell , Matti Pirinen , Haley J Abel , Colby C Chiang , Robert S Fulton , Anne U Jackson , Chul Joo Kang , Krishna L Kanchi , Daniel C Koboldt , David E Larson , Joanne Nelson , Thomas J Nicholas , Arto Pietilä , Vasily Ramensky , Debashree Ray , Laura J Scott , Heather M Stringham , Jagadish Vangipurapu , Ryan Welch , Pranav Yajnik , Xianyong Yin , Johan G Eriksson , Mika Ala-Korpela , Marjo-Riitta Järvelin , Minna Männikkö , Hannele Laivuori , Auteur inconnu , Susan K Dutcher , Nathan O Stitziel , Richard K Wilson , Ira M Hall , Chiara Sabatti , Aarno Palotie , Veikko Salomaa , Markku Laakso , Samuli Ripatti , Michael Boehnke , Nelson B Freimer

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.

American journal of human genetics
Avec: Benjamin Cogné , Xenia Latypova , Lokuliyanage Dona Samudita Senaratne , Ludovic Martin , Daniel C Koboldt , Georgios Kellaris , Lorraine Fievet , Guylène Le Meur , Dominique Caldari , Dominique Debray , Mathilde Nizon , Eirik Frengen , Sara J Bowne , Auteur inconnu , Elizabeth L Cadena , Stephen P Daiger , Kinga M Bujakowska , Eric A Pierce , Michael Gorin , Nicholas Katsanis , Stéphane Bézieau , Simon M Petersen-Jones , Laurence M Occelli , Leslie A Lyons , Laurence Legeai-Mallet , Lori S Sullivan , Erica E Davis , Bertrand Isidor

The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.

Annals of neurology
Avec: Daniel C Koboldt , Megan A Waldrop , Richard K Wilson , Kevin M Flanigan

Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma.

Acta neuropathologica communications
Avec: Kathleen M Schieffer , Alexander Z Feldman , Esko A Kautto , Sean McGrath , Anthony R Miller , Maria Elena Hernandez-Gonzalez , Stephanie LaHaye , Katherine E Miller , Daniel C Koboldt , Patrick Brennan , Benjamin Kelly , Amy Wetzel , Vibhuti Agarwal , Margaret Shatara , Suzanne Conley , Diana P Rodriguez , Rolla Abu-Arja , Ala Shaikhkhalil , Matija Snuderl , Brent A Orr , Jonathan L Finlay , Diana S Osorio , Annie I Drapeau , Jeffrey R Leonard , Christopher R Pierson , Peter White , Vincent Magrini , Elaine R Mardis , Richard K Wilson , Catherine E Cottrell , Daniel R Boué

Best practices for variant calling in clinical sequencing.

Genome medicine
Avec: Daniel C Koboldt

Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Yukiko Kuroda , Aiko Iwata-Otsubo , Kerith-Rae Dias , Suzanna E L Temple , Koji Nagao , Lachlan De Hayr , Ying Zhu , Shin-Ya Isobe , Gohei Nishibuchi , Sarah K Fiordaliso , Yuki Fujita , Alyssa L Rippert , Samuel W Baker , Marco L Leung , Daniel C Koboldt , Adele Harman , Beth A Keena , Izumi Kazama , Gopinath Musuwadi Subramanian , Kandamurugu Manickam , Betsy Schmalz , Maeson Latsko , Elaine H Zackai , Matt Edwards , Carey-Anne Evans , Matthew C Dulik , Michael F Buckley , Toshihide Yamashita , W Timothy O'Brien , Robert J Harvey , Chikashi Obuse , Tony Roscioli , Kosuke Izumi

Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.

American journal of human genetics
Avec: Shreyas Bhat , Justine Rousseau , Coralie Michaud , Charles Marques Lourenço , Joan M Stoler , Raymond J Louie , Lola K Clarkson , Angie Lichty , Daniel C Koboldt , Shalini C Reshmi , Sanjay M Sisodiya , Eva M M Hoytema van Konijnenburg , Klaas Koop , Peter M van Hasselt , Florence Démurger , Christèle Dubourg , Bonnie R Sullivan , Susan S Hughes , Isabelle Thiffault , Elisabeth Simard Tremblay , Andrea Accogli , Myriam Srour , Rikard Blunck , Philippe M Campeau

Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia.

European journal of human genetics : EJHG
Avec: Theresa Mihalic Mosher , Deborah A Zygmunt , Daniel C Koboldt , Benjamin J Kelly , Lisa R Johnson , David S McKenna , Benjamin C Hood , Scott E Hickey , Peter White , Richard K Wilson , Paul T Martin , Kim L McBride

Author Correction: Exome sequencing of Finnish isolates enhances rare-variant association power.

Nature
Avec: Adam E Locke , Karyn Meltz Steinberg , Charleston W K Chiang , Susan K Service , Aki S Havulinna , Laurel Stell , Matti Pirinen , Haley J Abel , Colby C Chiang , Robert S Fulton , Anne U Jackson , Chul Joo Kang , Krishna L Kanchi , Daniel C Koboldt , David E Larson , Joanne Nelson , Thomas J Nicholas , Arto Pietilä , Vasily Ramensky , Debashree Ray , Laura J Scott , Heather M Stringham , Jagadish Vangipurapu , Ryan Welch , Pranav Yajnik , Xianyong Yin , Johan G Eriksson , Mika Ala-Korpela , Marjo-Riitta Järvelin , Minna Männikkö , Hannele Laivuori , Auteur inconnu , Susan K Dutcher , Nathan O Stitziel , Richard K Wilson , Ira M Hall , Chiara Sabatti , Aarno Palotie , Veikko Salomaa , Markku Laakso , Samuli Ripatti , Michael Boehnke , Nelson B Freimer

Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2.

American journal of medical genetics. Part A
Avec: Nicolas J Abreu , Daniel C Koboldt , Julie M Gastier-Foster , Ashita Dave-Wala , Kevin M Flanigan , Megan A Waldrop

Novel in-frame

Cold Spring Harbor molecular case studies
Avec: Scott E Hickey , Daniel C Koboldt , Theresa Mihalic Mosher , Patrick Brennan , Beth A Schmalz , Erin Crist , Kim L McBride , Brent H Adler , Peter White , Richard K Wilson

Early-onset Wilson disease caused by

Cold Spring Harbor molecular case studies
Avec: Daniel C Koboldt , Scott E Hickey , Bimal P Chaudhari , Theresa Mihalic Mosher , Tracy Bedrosian , Erin Crist , Stephen G Kaler , Kim McBride , Peter White , Richard K Wilson

Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.

Human mutation
Avec: Jennifer H Yang , Marisa W Friederich , Katarzyna A Ellsworth , Aliya Frederick , Emily Foreman , Denise Malicki , David Dimmock , Jerica Lenberg , Chitra Prasad , Andrea C Yu , C Anthony Rupar , Robert A Hegele , Kandamurugu Manickam , Daniel C Koboldt , Erin Crist , Samantha S Choi , Sali M K Farhan , Helen Harvey , Shifteh Sattar , Natalya Karp , Terence Wong , Richard Haas , Johan L K Van Hove , Kristen Wigby

Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.

Human mutation
Avec: Marilena Melas , Esko A Kautto , Samuel J Franklin , Mari Mori , Kim L McBride , Theresa Mihalic Mosher , Ruthann B Pfau , Maria Elena Hernandez-Gonzalez , Sean D McGrath , Vincent J Magrini , Peter White , Julie Balch Samora , Daniel C Koboldt , Richard K Wilson

De novo missense mutation in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy.

Cold Spring Harbor molecular case studies
Avec: Maeson S Latsko , Daniel C Koboldt , Samuel J Franklin , Scott E Hickey , Rachel K Williamson , Shannon Garner , Adam P Ostendorf , Kristy Lee , Peter White , Richard K Wilson

Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement.

Frontiers in oncology
Avec: Katherine E Miller , Gregory Wheeler , Stephanie LaHaye , Kathleen M Schieffer , Sydney Cearlock , Lakshmi Prakruthi Rao Venkata , Alejandro Otero Bravo , Olivia E Grischow , Benjamin J Kelly , Peter White , Christopher R Pierson , Daniel R Boué , Selene C Koo , Darren Klawinski , Mark A Ranalli , Ammar Shaikhouni , Ralph Salloum , Margaret Shatara , Jeffrey R Leonard , Richard K Wilson , Catherine E Cottrell , Elaine R Mardis , Daniel C Koboldt

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Biological psychiatry
Avec: Brett V Johnson , Raman Kumar , Sabrina Oishi , Suzy Alexander , Maria Kasherman , Michelle Sanchez Vega , Atma Ivancevic , Alison Gardner , Deepti Domingo , Mark Corbett , Euan Parnell , Sehyoun Yoon , Tracey Oh , Matthew Lines , Henrietta Lefroy , Usha Kini , Margot Van Allen , Sabine Grønborg , Sandra Mercier , Sébastien Küry , Stéphane Bézieau , Laurent Pasquier , Martine Raynaud , Alexandra Afenjar , Thierry Billette de Villemeur , Boris Keren , Julie Désir , Lionel Van Maldergem , Martina Marangoni , Nicola Dikow , David A Koolen , Peter M VanHasselt , Marjan Weiss , Petra Zwijnenburg , Joaquim Sa , Claudia Falcao Reis , Carlos López-Otín , Olaya Santiago-Fernández , Alberto Fernández-Jaén , Anita Rauch , Katharina Steindl , Pascal Joset , Amy Goldstein , Suneeta Madan-Khetarpal , Elena Infante , Elaine Zackai , Carey Mcdougall , Vinodh Narayanan , Keri Ramsey , Saadet Mercimek-Andrews , Loren Pena , Vandana Shashi , Auteur inconnu , Kelly Schoch , Jennifer A Sullivan , Filippo Pinto E Vairo , Pavel N Pichurin , Sarah A Ewing , Sarah S Barnett , Eric W Klee , M Scott Perry , Mary Kay Koenig , Catherine E Keegan , Jane L Schuette , Stephanie Asher , Yezmin Perilla-Young , Laurie D Smith , Jill A Rosenfeld , Elizabeth Bhoj , Paige Kaplan , Dong Li , Renske Oegema , Ellen van Binsbergen , Bert van der Zwaag , Marie Falkenberg Smeland , Ioana Cutcutache , Matthew Page , Martin Armstrong , Angela E Lin , Marcie A Steeves , Nicolette den Hollander , Mariëtte J V Hoffer , Margot R F Reijnders , Serwet Demirdas , Daniel C Koboldt , Dennis Bartholomew , Theresa Mihalic Mosher , Scott E Hickey , Christine Shieh , Pedro A Sanchez-Lara , John M Graham , Kamer Tezcan , G B Schaefer , Noelle R Danylchuk , Alexander Asamoah , Kelly E Jackson , Naomi Yachelevich , Margaret Au , Luis A Pérez-Jurado , Tjitske Kleefstra , Peter Penzes , Stephen A Wood , Thomas Burne , Tyler Mark Pierson , Michael Piper , Jozef Gécz , Lachlan A Jolly

Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma.

European journal of medical genetics
Avec: Kathleen M Schieffer , Elizabeth Varga , Katherine E Miller , Vibhuti Agarwal , Daniel C Koboldt , Patrick Brennan , Benjamin Kelly , Ashita Dave-Wala , Christopher R Pierson , Jonathan L Finlay , Mohamed S AbdelBaki , Peter White , Vincent Magrini , Richard K Wilson , Elaine R Mardis , Catherine E Cottrell

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.

Molecular psychiatry
Avec: Suzanna G M Frints , Aysegul Ozanturk , Germán Rodríguez Criado , Ute Grasshoff , Bas de Hoon , Michael Field , Sylvie Manouvrier-Hanu , Scott E Hickey , Molka Kammoun , Karen W Gripp , Claudia Bauer , Christopher Schroeder , Annick Toutain , Theresa Mihalic Mosher , Benjamin J Kelly , Peter White , Andreas Dufke , Eveline Rentmeester , Sungjin Moon , Daniel C Koboldt , Kees E P van Roozendaal , Hao Hu , Stefan A Haas , Hans-Hilger Ropers , Lucinda Murray , Eric Haan , Marie Shaw , Renee Carroll , Kathryn Friend , Jan Liebelt , Lynne Hobson , Marjan De Rademaeker , Joep Geraedts , Jean-Pierre Fryns , Joris Vermeesch , Martine Raynaud , Olaf Riess , Joost Gribnau , Nicholas Katsanis , Koen Devriendt , Peter Bauer , Jozef Gecz , Christelle Golzio , Cristina Gontan , Vera M Kalscheuer

Quality control and integration of genotypes from two calling pipelines for whole genome sequence data in the Alzheimer's disease sequencing project.

Genomics
Avec: Adam C Naj , Honghuang Lin , Badri N Vardarajan , Simon White , Daniel Lancour , Yiyi Ma , Michael Schmidt , Fangui Sun , Mariusz Butkiewicz , William S Bush , Brian W Kunkle , John Malamon , Najaf Amin , Seung Hoan Choi , Kara L Hamilton-Nelson , Sven J van der Lee , Namrata Gupta , Daniel C Koboldt , Mohamad Saad , Bowen Wang , Alejandro Q Nato , Harkirat K Sohi , Amanda Kuzma , Auteur inconnu , Li-San Wang , L Adrienne Cupples , Cornelia van Duijn , Sudha Seshadri , Gerard D Schellenberg , Eric Boerwinkle , Joshua C Bis , Josée Dupuis , William J Salerno , Ellen M Wijsman , Eden R Martin , Anita L DeStefano

Biallelic

Cold Spring Harbor molecular case studies
Avec: Swetha Ramadesikan , Scott Hickey , Emily De Los Reyes , Anup D Patel , Samuel J Franklin , Patrick Brennan , Erin Crist , Kristy Lee , Peter White , Kim L McBride , Daniel C Koboldt , Richard K Wilson

Detection of brain somatic variation in epilepsy-associated developmental lesions.

Epilepsia
Avec: Tracy A Bedrosian , Katherine E Miller , Olivia E Grischow , Kathleen M Schieffer , Stephanie LaHaye , Hyojung Yoon , Anthony R Miller , Jason Navarro , Jesse Westfall , Kristen Leraas , Samantha Choi , Rachel Williamson , James Fitch , Benjamin J Kelly , Peter White , Kristy Lee , Sean McGrath , Catherine E Cottrell , Vincent Magrini , Jeffrey Leonard , Jonathan Pindrik , Ammar Shaikhouni , Daniel R Boué , Diana L Thomas , Christopher R Pierson , Richard K Wilson , Adam P Ostendorf , Elaine R Mardis , Daniel C Koboldt

Novel Presentation of Hemiplegic Migraine in a Patient With Cockayne Syndrome.

Pediatric neurology
Avec: Jennifer Carroll , Lisa Pabst , Daniel C Koboldt , Samuel J Franklin , Samantha Choi , Richard K Wilson , Warren Lo

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

American journal of medical genetics. Part A
Avec: Nuno Maia , Nekane Ibarluzea , Mala Misra-Isrie , Daniel C Koboldt , Isabel Marques , Gabriela Soares , Rosário Santos , Carlo L M Marcelis , Riikka Keski-Filppula , Miriam Guitart , Elisabeth Gabau Vila , April Lehman , Scott Hickey , Mari Mori , Paulien Terhal , Irene Valenzuela , Amaia Lasa-Aranzasti , Anna Maria Cueto-González , Brian H Chhouk , Rebecca C Yeh , Jennifer E Neil , Bassam Abu-Libde , Tjitske Kleefstra , Mariet W Elting , Andrea Császár , Judit Kárteszi , Beáta Bessenyei , Hans van Bokhoven , Paula Jorge , Johanna M van Hagen , Arjan P M de Brouwer

Molecular and spatial heterogeneity of microglia in Rasmussen encephalitis.

Acta neuropathologica communications
Avec: Jesse J Westfall , Wesley N Schwind , Sahibjot Sran , Jason B Navarro , Jeffrey Leonard , Jonathan A Pindrik , Christopher R Pierson , Daniel R Boué , Daniel C Koboldt , Adam P Ostendorf , Richard K Wilson , Elaine R Mardis , Katherine E Miller , Tracy A Bedrosian

Single-nuclei transcriptomics enable detection of somatic variants in patient brain tissue.

Scientific reports
Avec: Sydney E Townsend , Jesse J Westfall , Jason B Navarro , Daniel C Koboldt , Elaine R Mardis , Katherine E Miller , Tracy A Bedrosian

A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity.

Clinical immunology (Orlando, Fla.)
Avec: Ivana Stojkic , Benjamin T Prince , Hye Sun Kuehn , Agustin A Gil-Silva , Elizabeth A Varga , Sergio D Rosenzweig , Swetha Ramadesikan , Rachel Supinger , Mohammad Marhabaie , Peter Chang , Elaine R Mardis , Daniel C Koboldt

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.

Brain : a journal of neurology
Avec: Eleanor G Seaby , Annie Godwin , Géraldine Meyer-Dilhet , Valentine Clerc , Xavier Grand , Tia Fletcher , Laloe Monteiro , Martijn Kerkhofs , Valerio Carelli , Flavia Palombo , Marco Seri , Giulia Olivucci , Mina Grippa , Claudia Ciaccio , Stefano D'Arrigo , Maria Iascone , Marion Bermudez , Jan Fischer , Nataliya Di Donato , Sophie Goesswein , Marco L Leung , Daniel C Koboldt , Cortlandt Myers , Gudny Anna Arnadottir , Kari Stefansson , Patrick Sulem , Ethan M Goldberg , Ange-Line Bruel , Frederic Tran Mau Them , Marjolaine Willems , Hans Tomas Bjornsson , Hakon Bjorn Hognason , Eirny Tholl Thorolfsdottir , Emanuele Agolini , Antonio Novelli , Giuseppe Zampino , Roberta Onesimo , Katherine Lachlan , Diana Baralle , Heidi L Rehm , Anne O'Donnell-Luria , Julien Courchet , Matt Guille , Cyril F Bourgeois , Sarah Ennis

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Richard K Wilson 26 collaborations
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