Dorothy K. Grange
Washington University in St. Louis
173 Papers
778 Citations
Dorothy K. Grange is an academic researcher from Washington University in St. Louis. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 41, co-authored 155 publications. Previous affiliations of Dorothy K. Grange include University of South Florida & St. Louis Children's Hospital.
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Papers
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
Nicola Brunetti-Pierri,Jonathan S. Berg,Fernando Scaglia,John W. Belmont,Carlos A. Bacino,Trilochan Sahoo,Seema R. Lalani,Brett H. Graham,Brendan Lee,Marwan Shinawi,Joseph J. Shen,Sung Hae L. Kang,Amber Pursley,Timothy Lotze,Gail L. Kennedy,Susan Lansky-Shafer,Christine Weaver,Elizabeth Roeder,Theresa A. Grebe,Georgianne L. Arnold,Terry Hutchison,Tyler Reimschisel,Stephen Amato,Michael T. Geragthy,Jeffrey W. Innis,Ewa Obersztyn,Beata Nowakowska,Sally Rosengren,Patricia I. Bader,Dorothy K. Grange,Sayed Naqvi,Adolfo D. Garnica,Saunder Bernes,Chin-To Fong,Anne M. Summers,W. David Walters,James R. Lupski,Pawel Stankiewicz,Sau Wai Cheung,Ankita Patel +39 more
TL;DR: It is proposed that recurrent reciprocal microdeletions and microduplications within 1q21.1 represent previously unknown genomic disorders characterized by abnormal head size along with a spectrum of developmental delay, neuropsychiatric abnormalities, dysmorphic features and congenital anomalies.
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Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations
Jennifer J. Johnston,Isabelle M. Olivos-Glander,Christina Killoran,Emma Elson,Joyce T. Turner,Kathryn F. Peters,Margaret H. Abbott,David J. Aughton,Arthur S. Aylsworth,Michael J. Bamshad,Carol Booth,Cynthia J. Curry,Albert David,Mary Beth Dinulos,David B. Flannery,Michelle Fox,John M. Graham,John M. Graham,Dorothy K. Grange,Alan E. Guttmacher,Mark C. Hannibal,Wolfram Henn,Raoul C.M. Hennekam,Lewis B. Holmes,H. Eugene Hoyme,Kathleen A. Leppig,Angela E. Lin,Patrick MacLeod,David K. Manchester,Carlo Marcelis,Laura Mazzanti,Emma McCann,Marie T. McDonald,Nancy J. Mendelsohn,John B. Moeschler,Billur Moghaddam,Giovanni Neri,Ruth Newbury-Ecob,Roberta A Pagon,John A. Phillips,Laurie S. Sadler,Joan M. Stoler,David Tilstra,Catherine Walsh Vockley,Elaine H. Zackai,Touran M. Zadeh,Louise Brueton,Graeme C.M. Black,Leslie G. Biesecker +48 more
TL;DR: A robust correlation of genotype and phenotype for GLI3 mutations is demonstrated and strongly support the hypothesis that these two allelic disorders have distinct modes of pathogenesis.
Phenylketonuria Scientific Review Conference: state of the science and future research needs.
Kathryn M. Camp,Melissa A. Parisi,Phyllis B. Acosta,Gerard T. Berry,Deborah A. Bilder,Nenad Blau,Nenad Blau,Olaf Bodamer,Jeffrey P. Brosco,Christine Brown,Alberto Burlina,Barbara K. Burton,Christine Chang,Paul M. Coates,Amy Cunningham,Steven F. Dobrowolski,John H. Ferguson,Thomas D. Franklin,Dianne M. Frazier,Dorothy K. Grange,Carol L. Greene,Stephen C. Groft,Cary O. Harding,R. Rodney Howell,Kathleen Huntington,Henrietta D. Hyatt-Knorr,Indira Jevaji,Harvey L. Levy,Uta Lichter-Konecki,Mary Lou Lindegren,Michele A. Lloyd-Puryear,Kimberlee Michals Matalon,Anita MacDonald,Melissa L McPheeters,John J. Mitchell,Shideh Mofidi,Kathryn D. Moseley,Christine M. Mueller,Andrew E. Mulberg,Lata S. Nerurkar,Beth N. Ogata,Anne R. Pariser,Suyash Prasad,Gabriella Pridjian,Sonja A. Rasmussen,Uma M. Reddy,Frances Rohr,Rani H. Singh,Sandra Sirrs,Stephanie E. Stremer,Danilo A. Tagle,Susan Thompson,Tiina K. Urv,Jeanine Utz,Francjan J. van Spronsen,Jerry Vockley,Susan E. Waisbren,Linda S. Weglicki,Desirée A. White,Chester B. Whitley,Benjamin S. Wilfond,Steven Yannicelli,Justin M. Young +62 more
TL;DR: A coordinated approach to PKU treatment improves long-term outcomes for those with PKU and facilitates the conduct of research to improve diagnosis and treatment, and there are significant gaps in predicting response to treatment.
255
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.
Dianna M. Milewicz,John R. Østergaard,Leena Ala-Kokko,Nadia Khan,Dorothy K. Grange,Roberto Mendoza-Londono,Timothy J. Bradley,Ann Haskins Olney,Lesley C. Adès,Joseph F. Maher,Dongchuan Guo,L. Maximilian Buja,Dong H. Kim,James C. Hyland,Ellen S. Regalado +14 more
TL;DR: A unique and de novo mutation in ACTA2, R179H, is reported here on a syndrome characterized by dysfunction of SMCs throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension.
IDH2 Mutations in Patients with d-2-Hydroxyglutaric Aciduria
Martijn Kranendijk,Eduard A. Struys,Emile Van Schaftingen,K. Michael Gibson,Warsha A. Kanhai,Marjo S. van der Knaap,Jeanne Amiel,Neil R. M. Buist,Anibh M. Das,Johannis B.C. de Klerk,Annette Feigenbaum,Dorothy K. Grange,Floris C. Hofstede,Elisabeth Holme,Edwin P. Kirk,Stanley H. Korman,Eva Morava,Andrew D. Morris,Jan A.M. Smeitink,Rám N. Sukhai,Hilary Vallance,Cornelis Jakobs,Gajja S. Salomons +22 more
TL;DR: It is detected that heterozygous germline mutations in IDH2 that alter enzyme residue Arg140 in 15 unrelated patients with d-2-hydroxyglutaric aciduria, a rare neurometabolic disorder characterized by supraphysiological levels of D- 2-HG, which provides additional impetus for investigating the role of the enzyme in the pathophysiology of metabolic disease and cancer.
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