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Angela E. Scheuerle
Researcher at University of Texas Southwestern Medical Center
Publications - 118
Citations - 2923
Angela E. Scheuerle is an academic researcher from University of Texas Southwestern Medical Center. The author has contributed to research in topics: Population & Pregnancy. The author has an hindex of 28, co-authored 108 publications receiving 2369 citations. Previous affiliations of Angela E. Scheuerle include University of Texas at Austin & Texas Department of State Health Services.
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Journal ArticleDOI
Alcohol consumption by women before and during pregnancy
Mary K. Ethen,Tunu A. Ramadhani,Angela E. Scheuerle,Mark A. Canfield,Diego F. Wyszynski,Charlotte M. Druschel,Paul A. Romitti +6 more
TL;DR: It is revealed that drinking during pregnancy is fairly common, three times the levels reported in surveys that ask only about drinking during the month before the survey, and women who binge drink before pregnancy are at particular risk for drinking after becoming pregnant.
Journal ArticleDOI
The Xolair Pregnancy Registry (EXPECT): the safety of omalizumab use during pregnancy.
Jennifer A. Namazy,Michael D. Cabana,Angela E. Scheuerle,John M. Thorp,Hubert Chen,Gillis Carrigan,Yan Wang,Joachim Veith,Elizabeth Andrews +8 more
TL;DR: The EXPECT pregnancy registry as mentioned in this paper evaluated maternal, pregnancy, and infant outcomes after exposure to omalizumab, including incidence of congenital anomalies, including rates of live births, elective terminations, stillbirths, and congenital abnormalities.
Journal ArticleDOI
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Kitiwan Rojnueangnit,Kitiwan Rojnueangnit,Jing Xie,Alicia Gomes,Angela Sharp,Tom Callens,Yunjia Chen,Ying Liu,Meagan E. Cochran,Mary Alice Abbott,Joan F. Atkin,Dusica Babovic-Vuksanovic,Christopher P. Barnett,Melissa Crenshaw,Dennis Bartholomew,Lina Basel,Gary Bellus,Shay Ben-Shachar,Martin G. Bialer,David P. Bick,Bruce Blumberg,Fanny Cortés,Karen L. David,Anne Destree,Anna Duat-Rodriguez,Dawn L. Earl,Luis F. Escobar,Marthanda Eswara,Begona Ezquieta,Ian M. Frayling,Moshe Frydman,Kathy Gardner,Karen W. Gripp,Concepción Hernández-Chico,Kurt Heyrman,Jennifer Ibrahim,Sandra Janssens,Beth Keena,Isabel Llano-Rivas,Kathy A. Leppig,Marie T. McDonald,Vinod K. Misra,Jennifer Mulbury,Vinodh Narayanan,Naama Orenstein,Patricia Galvin-Parton,Helio Pedro,Eniko K. Pivnick,Cynthia M. Powell,Linda M. Randolph,Salmo Raskin,Jordi Rosell,Karol Rubin,Margretta R. Seashore,Christian P. Schaaf,Angela E. Scheuerle,Meredith Schultz,Elizabeth K. Schorry,Rhonda E. Schnur,Elizabeth Siqveland,Amanda Tkachuk,James H. Tonsgard,Meena Upadhyaya,Ishwar C. Verma,Stephanie E Wallace,Charles A. Williams,Elaine H. Zackai,Jonathan Zonana,Conxi Lázaro,Kathleen Claes,Bruce R. Korf,Yolanda Martin,Eric Legius,Ludwine Messiaen +73 more
TL;DR: 136 individuals with a distinct phenotype carrying one of five different NF1 missense mutations affecting p.Arg1809 affect 1.23% of unrelated NF1 probands in the UAB cohort, therefore this specific NF1 genotype–phenotype correlation will affect counseling and management of a significant number of patients.
Journal ArticleDOI
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Jessica X. Chong,Margaret J. McMillin,Kathryn M. Shively,Anita E. Beck,Colby T. Marvin,Jose R. Armenteros,Kati J. Buckingham,Naomi T. Nkinsi,Evan A. Boyle,Margaret N. Berry,Maureen Bocian,Nicola Foulds,Maria Luisa Giovannucci Uzielli,Chad R. Haldeman-Englert,Raoul C.M. Hennekam,Paige Kaplan,Antonie D. Kline,Catherine Mercer,Małgorzata J.M. Nowaczyk,Jolien S. Klein Wassink-Ruiter,Elizabeth McPherson,Regina A. Moreno,Angela E. Scheuerle,Vandana Shashi,Cathy A. Stevens,John C. Carey,Arnaud Monteil,Philippe Lory,Holly K. Tabor,Joshua D. Smith,Jay Shendure,Deborah A. Nickerson,Michael J. Bamshad +32 more
TL;DR: Exome sequencing identified missense mutations in the sodium leak channel, non-selective (NALCN) in four families affected by CLIFAHDD syndrome and identified 14 mutations predicted to alter amino acid residues in or near the S5 and S6 pore-forming segments of NALCN, highlighting the functional importance of these segments.
Journal ArticleDOI
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
Frank J. Kaiser,Morad Ansari,Diana Braunholz,María Concepción Gil-Rodríguez,María Concepción Gil-Rodríguez,Christophe Decroos,Jonathan J. Wilde,Christopher T. Fincher,Maninder Kaur,Masashige Bando,David J. Amor,Paldeep S. Atwal,Melanie Bahlo,Christine M. Bowman,Jacquelyn J. Bradley,Han G. Brunner,Dinah Clark,Miguel Del Campo,Miguel Del Campo,Miguel Del Campo,Nataliya Di Donato,Peter Diakumis,Holly Dubbs,David A. Dyment,Juliane Eckhold,Sarah Ernst,Jose Ferreira,Lauren J. Francey,Ulrike Gehlken,Encarna Guillén-Navarro,Encarna Guillén-Navarro,Yolanda Gyftodimou,Bryan D. Hall,Raoul C.M. Hennekam,Louanne Hudgins,Melanie Hullings,Jennifer M. Hunter,Helger G. Yntema,A. Micheil Innes,Antonie D. Kline,Zita Krumina,Hane Lee,Kathleen A. Leppig,Sally Ann Lynch,Mark B. Mallozzi,Linda Mannini,Shane McKee,Sarju G. Mehta,Ieva Micule,Shehla Mohammed,Ellen Moran,Geert Mortier,Joe Ann S. Moser,Sarah E. Noon,Naohito Nozaki,Luis Nunes,John Pappas,Lynette S. Penney,Antonio Perez-Aytes,Michael B. Petersen,Beatriz Puisac,Nicole Revencu,Elizabeth Roeder,Sulagna C. Saitta,Angela E. Scheuerle,Karen L. Schindeler,Victoria Mok Siu,Zornitza Stark,Samuel P. Strom,Heidi Thiese,Inga Vater,Patrick Willems,Kathleen A. Williamson,Louise C. Wilson,Hakon Hakonarson,Fabiola Quintero-Rivera,Jolanta Wierzba,Antonio Musio,Gabriele Gillessen-Kaesbach,Feliciano J. Ramos,Laird G. Jackson,Katsuhiko Shirahige,Juan Pié,David W. Christianson,Ian D. Krantz,David R. FitzPatrick,Matthew A. Deardorff +86 more
TL;DR: It is demonstrated that loss-of-function mutations in HDAC8 cause a range of overlapping human developmental phenotypes, including a phenotypically distinct subgroup of CdLS.