R
Renata C. Gallagher
Researcher at University of California, San Francisco
Publications - 70
Citations - 2436
Renata C. Gallagher is an academic researcher from University of California, San Francisco. The author has contributed to research in topics: Glycerol phenylbutyrate & Medicine. The author has an hindex of 28, co-authored 59 publications receiving 1940 citations. Previous affiliations of Renata C. Gallagher include University of Colorado Denver & University of California.
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Journal ArticleDOI
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy
Renata C. Gallagher,Johan L.K. Van Hove,Gunter Scharer,Keith Hyland,Barbara Plecko,Paula J. Waters,Saadet Mercimek-Mahmutoglu,Sylvia Stockler-Ipsiroglu,Gajja S. Salomons,Efraim H. Rosenberg,Eduard A. Struys,Cornelis Jakobs +11 more
TL;DR: Two patients are reported whose CSF showed the marker of folinic acid–responsive seizures, but who responded clinically to pyridoxine, and genetic and biochemical testing was performed on these patients, and seven others, to determine the relation between these two disorders.
Journal ArticleDOI
Clinical and mutational spectrum of Mowat-Wilson syndrome
Christiane Zweier,Christian Thiel,Andreas Dufke,Yanick J. Crow,Peter Meinecke,Mohnish Suri,Sirpa Ala-Mello,Frits A. Beemer,Sergio Bernasconi,Paolo Emilio Bianchi,Andrea Bier,Koen Devriendt,Boyan Dimitrov,Helen V. Firth,Renata C. Gallagher,Livia Garavelli,Gabriele Gillessen-Kaesbach,Louanne Hudgins,Helena Kääriäinen,Susan Karstens,Ian D. Krantz,Anca Mannhardt,Livija Medne,Jürgen Mücke,Maria Kibaek,Lotte Nylandsted Krogh,Maarit Peippo,Olaf Rittinger,Solveig Schulz,Susan Schelley,I. Karen Temple,Nick Dennis,Marjo S. van der Knaap,Patricia G. Wheeler,Baruch Yerushalmi,Martin Zenker,Heide Seidel,Augusta M. A. Lachmeijer,Trine Prescott,Cornelia Kraus,R. Brian Lowry,Anita Rauch +41 more
TL;DR: Genotype-phenotype analysis confirmed that ZFHX1B deletions and stop mutations result in a recognizable facial dysmorphism with associated severe mental retardation and variable malformations such as Hirschsprung disease and congenital heart defects and indicates that structural eye anomalies such as microphthalmia should be considered as part of the MWS spectrum.
Journal ArticleDOI
Evidence for the Role of PWCR1/HBII-85 C/D Box Small Nucleolar RNAs in Prader-Willi Syndrome
TL;DR: It is shown that the transcripts reported to be expressed in lymphoblast-somatic cell hybrids are not expressed in fibroblasts, and this hypothesis that loss of expression of the snoRNAs in the proposed minimal critical region confers much or all of the phenotype of PWS is consistent.
Journal ArticleDOI
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum
Clara D.M. van Karnebeek,Sylvia A. Tiebout,Jikke-Mien F. Niermeijer,Bwee Tien Poll-The,Aisha Ghani,Curtis R. Coughlin,Johan L.K. Van Hove,Jost Wigand Richter,Hans Juergen Christen,Renata C. Gallagher,Hans Hartmann,Sylvia Stockler-Ipsiroglu +11 more
TL;DR: All infants presenting with unexplained seizures should be screened for antiquitin deficiency by determination of α-aminoadipic semialdehyde/pyrroline 6' carboxylate (in urine, plasma or cerebrospinal fluid) and ALDH7A1 molecular analysis.
Journal ArticleDOI
The role of exome sequencing in newborn screening for inborn errors of metabolism.
Aashish N. Adhikari,Aashish N. Adhikari,Renata C. Gallagher,Yaqiong Wang,Robert J. Currier,George S. Amatuni,Laia Bassaganyas,Flavia Chen,Kunal Kundu,Kunal Kundu,Mark N. Kvale,Sean D. Mooney,Robert L. Nussbaum,Savanna S. Randi,Jeremy R. Sanford,Joseph T. Shieh,Rajgopal Srinivasan,Uma Sunderam,Hao Tang,Dedeepya Vaka,Yangyun Zou,Barbara A. Koenig,Pui-Yan Kwok,Neil Risch,Jennifer M. Puck,Steven E. Brenner +25 more
TL;DR: Whole-exome sequencing is not sensitive or specific enough to replace the gold standard of tandem mass spectrometry screening of rare inborn errors of metabolism, but can help to reduce false positives and facilitate the timely resolution of ambiguous cases.