M
Margo L. Whiteford
Researcher at Southern General Hospital
Publications - 21
Citations - 1284
Margo L. Whiteford is an academic researcher from Southern General Hospital. The author has contributed to research in topics: Floating–Harbor syndrome & Locus heterogeneity. The author has an hindex of 14, co-authored 20 publications receiving 1157 citations.
Papers
More filters
Journal ArticleDOI
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome
Gillian I. Rice,Teresa Patrick,Rekha Parmar,Claire F Taylor,Alec Aeby,Jean Aicardi,Rafael Artuch,Simon Attard Montalto,Carlos A. Bacino,Bruno Barroso,Peter Baxter,Willam S Benko,Carsten Bergmann,Enrico Bertini,Roberta Biancheri,Edward Blair,Nenad Blau,David T. Bonthron,Tracy A Briggs,Louise Brueton,Han G. Brunner,Christopher J. Burke,Ian M. Carr,Daniel R. Carvalho,Kate Chandler,Hans-Jurgen Christen,Peter Corry,Frances M. Cowan,Helen Cox,Stefano D'Arrigo,John Dean,Corinne De Laet,Claudine De Praeter,Catherine Dery,Colin D. Ferrie,Kim Flintoff,Suzanna G.M. Frints,Angels García-Cazorla,Blanca Gener,Cyril Goizet,Francoise Goutieres,Andrew Green,Agnes Guet,Ben C.J. Hamel,Bruce E. Hayward,Arvid Heiberg,Raoul C.M. Hennekam,Marie Husson,Andrew P. Jackson,Rasieka Jayatunga,Yong-hui Jiang,Sarina G. Kant,Amy Kao,Mary D. King,Helen Kingston,Joerg Klepper,Marjo S. van der Knaap,Andrew J. Kornberg,Dieter Kotzot,Wilfried Kratzer,Didier Lacombe,Lieven Lagae,Pierre Landrieu,Giovanni Lanzi,Andrea Leitch,Ming K. Lim,John H. Livingston,Charles Marques Lourenço,E G Hermione Lyall,Sally Ann Lynch,Michael J. Lyons,Daphna Marom,John P McClure,Robert McWilliam,Serge B. Melançon,Leena D Mewasingh,Marie-Laure Moutard,Ken K. Nischal,John R. Østergaard,Julie S. Prendiville,Magnhild Rasmussen,R. Curtis Rogers,Dominique Roland,Elisabeth Rosser,Kevin Rostasy,Agathe Roubertie,Amparo Sanchis,Raphael Schiffmann,Sabine Scholl-Bürgi,Sunita Seal,Stavit A. Shalev,C Sierra Corcoles,Gyan P Sinha,Doriette Soler,Ronen Spiegel,John B.P. Stephenson,Uta Tacke,Tiong Yang Tan,Marianne Till,John Tolmie,Pam Tomlin,Federica Vagnarelli,Enza Maria Valente,Rudy Van Coster,Nathalie Van der Aa,Adeline Vanderver,Johannes S H Vles,Thomas Voit,Evangeline Wassmer,Bernhard Weschke,Margo L. Whiteford,Michèl A.A.P. Willemsen,Andreas Zankl,Sameer M. Zuberi,Simona Orcesi,Elisa Fazzi,Pierre Lebon,Yanick J. Crow +117 more
TL;DR: The analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder, and indicates that at least one further AGS-causing gene remains to be identified.
Journal ArticleDOI
Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome
Rebecca L. Hood,Matthew A. Lines,Sarah M. Nikkel,Sarah M. Nikkel,Jeremy Schwartzentruber,Chandree L. Beaulieu,Małgorzata J.M. Nowaczyk,Judith Allanson,Chong Ae Kim,Dagmar Wieczorek,Jukka S. Moilanen,Didier Lacombe,Gabriele Gillessen-Kaesbach,Margo L. Whiteford,Caio Robledo D'Angioli Costa Quaio,Israel Gomy,Débora Romeo Bertola,Beate Albrecht,Konrad Platzer,George McGillivray,Ruobing Zou,D. Ross McLeod,Albert E. Chudley,Bernard N. Chodirker,Janet Marcadier,Jacek Majewski,Dennis E. Bulman,Susan M. White,Susan M. White,Kym M. Boycott,Kym M. Boycott +30 more
TL;DR: The findings show that SRCAP mutations are the major cause of FHS and offer an explanation for the clinical overlap between F HS and RTS.
Journal ArticleDOI
Mutation Analysis of Patients with Hermansky-Pudlak Syndrome: A Frameshift Hot Spot in the HPS Gene and Apparent Locus Heterogeneity
Jangsuk Oh,Lingling Ho,Sirpa Ala-Mello,Dominick Amato,Linda W. Armstrong,Sylvia Bellucci,Gerson Carakushansky,Julia P. Ellis,Chin-To Fong,Jane Green,Elise Héon,Eric Legius,Alex V. Levin,H. Karel Nieuwenhuis,Alfred J. L. G. Pinckers,Naoaki Tamura,Margo L. Whiteford,Hisato Yamasaki,Richard A. Spritz +18 more
TL;DR: Mutation analysis of 44 unrelated Puerto Rican and 24 unrelated non-Puerto Rican HPS patients is described and evidence that suggests locus heterogeneity for HPS is presented, including an apparent frameshift hot spot at codons 321-322.
Journal ArticleDOI
The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.
Katie M. Snape,Deborah Ruddy,Martin Zenker,Wim Wuyts,Margo L. Whiteford,Diana Johnson,Wayne Lam,Richard C. Trembath +7 more
TL;DR: The description of three previously unreported affected individuals is illustrated and evidence for distinct clinical entities within the ACC/TTLD spectrum is provided, which may reflect genetic heterogeneity within this spectrum of disorders.
Journal ArticleDOI
Frontometaphyseal dysplasia : Mutations in FLNA and phenotypic diversity
Stephen P. Robertson,Zandra A. Jenkins,Timothy R. Morgan,Lesley C. Adès,Lesley C. Adès,Salim Aftimos,Odile Boute,Torunn Fiskerstrand,Sixto García-Miñaur,Arthur Grix,Andrew Green,Vazken M. Der Kaloustian,Ray Lewkonia,Brenda McInnes,Mieke M. van Haelst,Grazia Macini,Tamás Illés,Geert Mortier,Ruth Newbury-Ecob,Linda Nicholson,Charles I. Scott,Karolina Ochman,Izabela Brozek,Deborah J. Shears,Andrea Superti-Furga,Mohnish Suri,Margo L. Whiteford,Andrew O.M. Wilkie,Deborah Krakow +28 more
TL;DR: In this article, a comprehensive screening of the FLNA gene in a group of 23 unrelated probands (11 familial instances, 12 simplex cases; total affected individuals 32) with frontometaphyseal dysplasia is reported.