S
S. Lane Rutledge
Researcher at University of Alabama at Birmingham
Publications - 23
Citations - 1294
S. Lane Rutledge is an academic researcher from University of Alabama at Birmingham. The author has contributed to research in topics: Missense mutation & Ataxia. The author has an hindex of 16, co-authored 22 publications receiving 1114 citations. Previous affiliations of S. Lane Rutledge include Medical College of Wisconsin & Mayo Clinic.
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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
Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake
Charles A. Stanley,Susan Deleeuw,Paul M. Coates,Christine Vianey‐Liaud,P. Divry,Jean-Paul Bonnefont,Jean-Marie Saudubray,Morey W. Haymond,Friedrich K. Trefz,Galen N. Breningstall,Rebecca S. Wappner,Dennis J. Byrd,Claude Sansaricq,Ingrid Tein,Warren D. Grover,David Valle,S. Lane Rutledge,William R. Treem +17 more
TL;DR: Early recognition and treatmnent with high doses of oral carnitine may be life‐saving in this disorder of fatty acid oxidation.
Journal ArticleDOI
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders
Fady M. Mikhail,Fady M. Mikhail,Edward J. Lose,Nathaniel H. Robin,Maria Descartes,Katherine D. Rutledge,S. Lane Rutledge,Bruce R. Korf,Andrew J. Carroll +8 more
TL;DR: The list of neuro developmental genes deleted in various neurobehavioral phenotypes is expanded, the phenotypes caused by haploinsufficiency of previously reported critical neurodevelopmental genes are expanded, and the clinical relevance and need for careful clinical interpretation of some small CNVs <500 kb are elucidated.
Journal ArticleDOI
Neonatal hemodialysis: Effective therapy for the encephalopathy of inborn errors of metabolism
S. Lane Rutledge,S. Lane Rutledge,S. Lane Rutledge,Peter L. Havens,Peter L. Havens,Peter L. Havens,Morey W. Haymond,Morey W. Haymond,Morey W. Haymond,Robert H. McLean,Robert H. McLean,Robert H. McLean,Jean S. Kan,Jean S. Kan,Jean S. Kan,Saul W. Brusilow,Saul W. Brusilow,Saul W. Brusilow +17 more
TL;DR: The hypothesis that hemodialysis is more effective then peritoneal dialysis or exchange transfusion in removing putative toxic metabolites, as well as the cases of two neonates with Maple syrup urine disease and argininosuccinate synthetase deficiency is examined.
Journal ArticleDOI
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
Magdalena Koczkowska,Tom Callens,Yunjia Chen,Alicia Gomes,Alesha D. Hicks,Angela Sharp,Eric Johns,Kim Armfield Uhas,Linlea Armstrong,Katherine A. Bosanko,Dusica Babovic-Vuksanovic,Laura A. Baker,Donald Basel,Mario Bengala,James T. Bennett,Chelsea Chambers,Lola K. Clarkson,Maurizio Clementi,Fanny Cortés,Mitch Cunningham,M. Daniela D'Agostino,Martin B. Delatycki,Maria Cristina Digilio,Laura Dosa,Silvia Esposito,Stephanie Fox,Mary Louise Freckmann,Christine Fauth,Teresa Giugliano,Sandra Giustini,Allison L. Goetsch,Yael Goldberg,Robert S. Greenwood,Cristin Griffis,Karen W. Gripp,Punita Gupta,E. Haan,Rachel K. Hachen,Tamara L. Haygarth,Concepción Hernández-Chico,Katelyn Hodge,Robert J. Hopkin,Louanne Hudgins,Sandra Janssens,Kory Keller,Geraldine Kelly-Mancuso,Aaina Kochhar,Bruce R. Korf,Andrea M. Lewis,Jan Liebelt,Angie W. Lichty,Robert Listernick,Michael J. Lyons,Isabelle Maystadt,Mayra Martinez Ojeda,Carey McDougall,Lesley K. McGregor,Daniela Melis,Nancy J. Mendelsohn,Małgorzata J.M. Nowaczyk,June Ortenberg,Karin Panzer,John Pappas,Mary Ella M Pierpont,Giulio Piluso,Valentina Pinna,Eniko K. Pivnick,Dinel A. Pond,Cynthia M. Powell,Caleb Rogers,Noa Ruhrman Shahar,S. Lane Rutledge,Veronica Saletti,Sarah A. Sandaradura,Claudia Santoro,Ulrich A. Schatz,Allison Schreiber,Daryl A. Scott,Elizabeth A. Sellars,Ruth Sheffer,Elizabeth Siqveland,John M. Slopis,Rosemarie Smith,Alberto Spalice,David W. Stockton,Haley Streff,Amy Theos,Gail E. Tomlinson,Grace Tran,Pamela Trapane,Eva Trevisson,Nicole J. Ullrich,Jenneke van den Ende,Samantha A. Schrier Vergano,Stephanie E Wallace,Michael F. Wangler,David D. Weaver,Kaleb Yohay,Elaine H. Zackai,Jonathan Zonana,Vickie Zurcher,Kathleen Claes,Marica Eoli,Yolanda Martin,Katharina Wimmer,Alessandro De Luca,Eric Legius,Ludwine Messiaen +107 more
TL;DR: Although clinically relevant genotype–phenotype correlations are rare in NF1, each affecting only a small percentage of individuals, together they impact counseling and management of a significant number of the NF1 population.