K
Kimiyo Raymond
Researcher at Mayo Clinic
Publications - 95
Citations - 3114
Kimiyo Raymond is an academic researcher from Mayo Clinic. The author has contributed to research in topics: Congenital disorder of glycosylation & Glycosylation. The author has an hindex of 28, co-authored 85 publications receiving 2420 citations. Previous affiliations of Kimiyo Raymond include University of Rochester & Yale University.
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Journal ArticleDOI
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
David M.S. McHugh,Cynthia A. Cameron,Jose E. Abdenur,Mahera Abdulrahman,Ona Adair,Shahira Ahmed Al Nuaimi,Henrik Åhlman,Jennifer J. Allen,Italo Antonozzi,Shaina Archer,Sylvia Mann Au,Christiane Auray-Blais,Mei W. Baker,Fiona Bamforth,Kinga Beckmann,Gessi Bentz Pino,Stanton L. Berberich,Robert J Binard,François Boemer,James R. Bonham,Nancy N. Breen,Sandra C. Bryant,Michele Caggana,S. Graham Caldwell,Marta Camilot,Carlene Campbell,Claudia Carducci,Rohit Cariappa,Clover Carlisle,Ubaldo Caruso,Michela Cassanello,Ane Miren Castilla,Daisy E. Castiñeiras Ramos,Pranesh Chakraborty,Ram Chandrasekar,Alfredo Chardon Ramos,David Cheillan,Yin-Hsiu Chien,Thomas A. Childs,Petr Chrastina,Yuri Cleverthon Sica,Jose Angel Cocho de Juan,Maria Elena Colandre,Veronica Cornejo Espinoza,Gaetano Corso,Robert Currier,Denis Cyr,Noemi Czuczy,Oceania D'Apolito,Tim Davis,Monique G.M. de Sain-van der Velden,Carmen Delgado Pecellin,Iole Maria Di Gangi,Cristina Di Stefano,Yannis Dotsikas,M. Downing,Stephen M. Downs,Bonifacio Dy,Mark Dymerski,Inmaculada Rueda,Bert Elvers,Roger B. Eaton,Barbara M. Eckerd,Fatma A. El Mougy,Sarah Eroh,Mercedes Espada,Catherine Evans,Sandy Fawbush,Kristel F. Fijolek,Lawrence Fisher,Leifur Franzson,Dianne M. Frazier,Luciana R.C. Garcia,Maria Sierra García Valdecasas Bermejo,Dimitar Gavrilov,Rosemarie Gerace,Giuseppe Giordano,Yolanda González Irazabal,Lawrence Greed,Robert E. Grier,Elyse Grycki,Xuefan Gu,Fizza Gulamali-Majid,Arthur F. Hagar,Lianshu Han,W. Harry Hannon,Christa Haslip,Fayza A. Hassan,Miao He,Amy Hietala,Leslie Himstedt,Gary Hoffman,William Hoffman,Philis Hoggatt,Patrick V. Hopkins,David M. Hougaard,Kerie Hughes,Patricia Hunt,Wuh-Liang Hwu,June Hynes,Isabel Ibarra-González,Cindy A. Ingham,Maria Ivanova,Ward B. Jacox,Catharine John,John P. Johnson,Jon J. Jonsson,Eszter Karg,David C. Kasper,Brenda Klopper,Dimitris Katakouzinos,Issam Khneisser,Detlef Knoll,Hirinori Kobayashi,Ronald Koneski,Viktor Kožich,Rasoul Kouapei,Dirk Kohlmueller,Ivo Kremensky,Giancarlo la Marca,Marcia Lavochkin,Soo-Youn Lee,Denis C. Lehotay,Aida Lemes,Joyce Lepage,Barbara G. Lesko,Barry Lewis,Carol Lim,Sharon Linard,Martin Lindner,Michele A. Lloyd-Puryear,Fred Lorey,Yannis L. Loukas,Julie Luedtke,Maffitt Neil,J. Fergall Magee,Adrienne Manning,Shawn M. Manos,Sandrine Marie,Sônia Marchezi Hadachi,Gregg Marquardt,Stephen J. Martin,Dietrich Matern,Stephanie K. Mayfield Gibson,Philip Mayne,Tonya D. McCallister,Mark McCann,Julie McClure,James McGill,Christine D. McKeever,Barbara McNeilly,Mark A. Morrissey,Paraskevi Moutsatsou,Eleanor A. Mulcahy,Dimitris Nikoloudis,Bent Nørgaard-Pedersen,Devin Oglesbee,Mariusz Ołtarzewski,Daniela Ombrone,Jelili Ojodu,Vagelis Papakonstantinou,Sherly Pardo Reoyo,Hyung Doo Park,Marzia Pasquali,Elisabetta Pasquini,Pallavi Patel,Kenneth A. Pass,Colleen K. Peterson,Rolf D. Pettersen,James Pitt,Sherry Poh,Arnold Pollak,Cory Porter,Philip A. Poston,Ricky W. Price,Cecilia Queijo,Jonessy Quesada,Edward Randell,Enzo Ranieri,Kimiyo Raymond,John E. Reddic,Alejandra Reuben,Charla Ricciardi,Piero Rinaldo,Jeff D. Rivera,Alicia Roberts,Hugo Rocha,Geraldine Roche,Cheryl R. Greenberg,José María Egea Mellado,María Jesús Juan-Fita,Consuelo Ruiz,Margherita Ruoppolo,S. Lane Rutledge,Euijung Ryu,Christine Saban,Inderneel Sahai,Maria Isabel Salazar García-Blanco,Pedro Santiago-Borrero,Andrea Schenone,Roland Schoos,Barb Schweitzer,Patricia Scott,Margretta R. Seashore,Mary Seeterlin,David E. Sesser,Darrin W. Sevier,Scott M. Shone,Graham Sinclair,Victor Anthony Skrinska,Eleanor Stanley,Erin T. Strovel,April L. Studinski Jones,Sherlykutty Sunny,Zoltan Takats,Tijen Tanyalcin,Francesca Teofoli,J. Robert Thompson,Kathy Tomashitis,Mouseline Torquado Domingos,Jasmin Torres,Rosario Torres,Silvia Tortorelli,Sándor Túri,Kimberley Turner,Nick Tzanakos,Alf Valiente,Hillary Vallance,Marcela Vela-Amieva,Laura Vilarinho,Ulrika von Döbeln,Marie-Françoise Vincent,B. Chris Vorster,Michael S. Watson,Dianne Webster,Sheila Weiss,Bridget Wilcken,Veronica Wiley,Sharon K. Williams,Sharon A. Willis,Michael Woontner,Katherine Wright,Raquel Yahyaoui,Seiji Yamaguchi,Melissa Yssel,Wendy M. Zakowicz +245 more
TL;DR: An unprecedented level of cooperation and collaboration has allowed the objective definition of cutoff target ranges for 114 markers to be applied to newborn screening of rare metabolic disorders.
Journal ArticleDOI
Multiple Phenotypes in Phosphoglucomutase 1 Deficiency
Laura C. Tegtmeyer,Stephan Rust,Monique van Scherpenzeel,Bobby G. Ng,Marie-Estelle Losfeld,Sharita Timal,Kimiyo Raymond,Ping He,Mie Ichikawa,Joris A. Veltman,Karin Huijben,Yoon S. Shin,Vandana Sharma,Maciej Adamowicz,Martin Lammens,Janine Reunert,Anika Witten,Esther Schrapers,Gert Matthijs,Jaak Jaeken,Daisy Rymen,Tanya Stojkovic,Pascal Laforêt,François Petit,Olivier Aumaître,Elżbieta Czarnowska,Monique Piraud,Teodor Podskarbi,Charles A. Stanley,Reuben Matalon,Patricie Burda,Soraya Seyyedi,V. Debus,Piotr Socha,Jolanta Sykut-Cegielska,Francjan J. van Spronsen,Linda De Meirleir,Pietro Vajro,Terry J. DeClue,Can Ficicioglu,Yoshinao Wada,Ron A. Wevers,Dieter Vanderschaeghe,Nico Callewaert,Ralph Fingerhut,Emile Van Schaftingen,Hudson H. Freeze,Eva Morava,Dirk Lefeber,Thorsten Marquardt +49 more
TL;DR: In this paper, the authors evaluated patients who had a novel recessive disorder of glycosylation, with a range of clinical manifestations that included hepatopathy, bifid uvula, malignant hyperthermia, hypogonadotropic hypogono-morphosis, growth retardation, hypoglycemia, myopathy, dilated cardiomyopathy, and cardiac arrest.
Journal ArticleDOI
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Asbjørg Stray-Pedersen,Paul Hoff Backe,Paul Hoff Backe,Hanne Sørmo Sorte,Lars Mørkrid,Lars Mørkrid,Niti Y. Chokshi,Hans Christian Erichsen,Tomasz Gambin,Katja Benedikte Prestø Elgstøen,Magnar Bjørås,Magnar Bjørås,Marcin W. Wlodarski,Marcus Krüger,Shalini N. Jhangiani,Donna M. Muzny,Ankita Patel,Kimiyo Raymond,Ghadir S. Sasa,Ghadir S. Sasa,Robert A. Krance,Robert A. Krance,Caridad Martinez,Caridad Martinez,Shirley M. Abraham,Carsten Speckmann,Stephan Ehl,Patricia L. Hall,Lisa R. Forbes,Lisa R. Forbes,Else Merckoll,Jostein Westvik,Gen Nishimura,Cecilie F. Rustad,Tore G. Abrahamsen,Tore G. Abrahamsen,Arild Rønnestad,Liv T. N. Osnes,Torstein Egeland,Torstein Egeland,Olaug K. Rødningen,Christine R. Beck,Eric Boerwinkle,Eric Boerwinkle,Richard A. Gibbs,James R. Lupski,Jordan S. Orange,Jordan S. Orange,Ekkehart Lausch,I. Celine Hanson +49 more
TL;DR: PGM3-CDG is defined as a treatable immunodeficiency, the power of whole-exome sequencing in gene discoveries for rare disorders is documented, and the utility of genomic analyses in studying combined and variable phenotypes is illustrated.
Journal ArticleDOI
Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots.
Coleman T. Turgeon,Mark J. Magera,Pierre Allard,Silvia Tortorelli,Dimitar Gavrilov,Devin Oglesbee,Kimiyo Raymond,Piero Rinaldo,Dietrich Matern +8 more
TL;DR: The inclusion of SUAC analysis into routine analysis of AC and AA allows for rapid and cost-effective screening for TYR 1 with no tangible risk of false-negative results.
Journal ArticleDOI
Determination of Total Homocysteine, Methylmalonic Acid, and 2-Methylcitric Acid in Dried Blood Spots by Tandem Mass Spectrometry
Coleman T. Turgeon,Mark J. Magera,Carla D. Cuthbert,Perry R. Loken,Dimitar Gavrilov,Silvia Tortorelli,Kimiyo Raymond,Devin Oglesbee,Piero Rinaldo,Dietrich Matern +9 more
TL;DR: Application of this assay reduced the false-positive rate and improved the positive predictive value of NBS for conditions associated with abnormal propionylcarnitine and methionine concentrations.