Works matching AU High, Frances A.

Results: 19

Hlx is induced by and genetically interacts with T-bet to promote heritable T<sub>H</sub>1 gene induction.

Published in:

Nature Immunology, 2002, v. 3, n. 7, p. 652, doi. 10.1038/ni807

By:

Mullen, Alan C.;
Hutchins, Anne S.;
High, Frances A.;
Lee, Hubert W.;
Sykes, Kara J.;
Chodosh, Lewis A.;
Reiner, Steven L.

Publication type:

Article

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region.

Published in:

Epilepsia (Series 4), 2019, v. 60, n. 3, p. 406, doi. 10.1111/epi.14653

By:

Kelly, McKenna;
Park, Meredith;
Mihalek, Ivana;
Rochtus, Anne;
Gramm, Marie;
Pérez‐Palma, Eduardo;
Axeen, Erika Takle;
Hung, Christina Y.;
Olson, Heather;
Swanson, Lindsay;
Anselm, Irina;
Briere, Lauren C.;
High, Frances A.;
Sweetser, David A.;
Kayani, Saima;
Snyder, Molly;
Calvert, Sophie;
Scheffer, Ingrid E.;
Yang, Edward;
Waugh, Jeff L.

Publication type:

Article

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.

Published in:

PLoS Genetics, 2018, v. 14, n. 12, p. 1, doi. 10.1371/journal.pgen.1007822

By:

Guo, Yicheng;
Qi, Hongjian;
Zhou, Xueya;
Zhu, Na;
Zhao, Haoquan;
Kitaygorodsky, Alexander;
Shen, Yufeng;
Warner, Brad W.;
Mychaliska, George B.;
Potoka, Douglas;
Wagner, Amy J.;
ElFiky, Mahmoud;
Wilson, Jay M.;
High, Frances A.;
Longoni, Mauro;
Donahoe, Patricia K.;
Nickerson, Debbie;
Bamshad, Michael;
Yu, Lan;
Wynn, Julia

Publication type:

Article

A Tracheal Aspirate-derived Airway Basal Cell Model Reveals a Proinflammatory Epithelial Defect in Congenital Diaphragmatic Hernia.

Published in:

American Journal of Respiratory & Critical Care Medicine, 2023, v. 207, n. 9, p. 1214, doi. 10.1164/rccm.202205-0953OC

By:

Wagner, Richard;
Amonkar, Gaurang M.;
Wei Wang;
Shui, Jessica E.;
Bankoti, Kamakshi;
Wai Hei Tse;
High, Frances A.;
Zalieckas, Jill M.;
Buchmiller, Terry L.;
Zani, Augusto;
Keijzer, Richard;
Donahoe, Patricia K.;
Lerou, Paul H.;
Xingbin Ai

Publication type:

Article

A tracheal aspirate-derived airway basal cell model reveals a proinflammatory epithelial defect in congenital diaphragmatic hernia.

Published in:

American Journal of Respiratory & Critical Care Medicine, 2023, v. 207, n. 9, p. E1, doi. 10.1164/rccm.202205-0953oc

By:

Wagner, Richard;
Amonkar, Gaurang M.;
Wei Wang;
Shui, Jessica E.;
Bankoti, Kamakshi;
Wai Hei Tse;
High, Frances A.;
Zalieckas, Jill M.;
Buchmiller, Terry L.;
Zani, Augusto;
Keijzer, Richard;
Donahoe, Patricia K.;
Lerou, Paul H.;
Xingbin Ai

Publication type:

Article

Murine Jagged1/Notch signaling in the second heart field orchestrates Fgf8 expression and tissue-tissue interactions during outflow tract development.

Published in:

2009

By:

High, Frances A.;
Jain, Rajan;
Stoller, Jason Z.;
Antonucci, Nicole B.;
Min Min Lu;
Loomes, Kathleen M.;
Kaestner, Klaus H.;
Pear, Warren S.;
Epstein, Jonathan A.;
Lu, Min Min

Publication type:

journal article

An essential role for Notch in neural crest during cardiovascular development and smooth muscle differentiation.

Published in:

2007

By:

High, Frances A.;
Maozhen Zhang;
Proweller, Aaron;
LiLi Tu;
Parmacek, Michael S.;
Pear, Warren S.;
Epstein, Jonathan A.;
Zhang, Maozhen;
Tu, Lili

Publication type:

journal article

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.

Published in:

Genes, 2022, v. 13, n. 1, p. 154, doi. 10.3390/genes13010154

By:

Nagy, Dóra;
Verheyen, Sarah;
Wigby, Kristen M.;
Borovikov, Artem;
Sharkov, Artem;
Slegesky, Valerie;
Larson, Austin;
Fagerberg, Christina;
Brasch-Andersen, Charlotte;
Kibæk, Maria;
Bader, Ingrid;
Hernan, Rebecca;
High, Frances A.;
Chung, Wendy K.;
Schieving, Jolanda H.;
Behunova, Jana;
Smogavec, Mateja;
Laccone, Franco;
Witsch-Baumgartner, Martina;
Zobel, Joachim

Publication type:

Article

A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.

Published in:

Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 3, p. 1, doi. 10.1101/mcs.a005827

By:

Briere, Lauren C.;
Walker, Melissa A.;
High, Frances A.;
Cooper, Cynthia;
Rogers, Cassandra A.;
Callahan, Christine J.;
Ryosuke Ishimura;
Yoshinobu Ichimura;
Caruso, Paul A.;
Sharma, Nutan;
Brokamp, Elly;
Koziura, Mary E.;
Mohammad, Shekeeb S.;
Dale, Russell C.;
Riley, Lisa G.;
Phillips, John A.;
Masaaki Komatsu;
Sweetser, David A.

Publication type:

Article

The multifaceted role of Notch in cardiac development and disease.

Published in:

Nature Reviews Genetics, 2008, v. 9, n. 1, p. 49, doi. 10.1038/nrg2279

By:

High, Frances A.;
Epstein, Jonathan A.

Publication type:

Article

Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia.

Published in:

Human Genetics, 2017, v. 136, n. 6, p. 679, doi. 10.1007/s00439-017-1774-y

By:

Longoni, Mauro;
High, Frances;
Qi, Hongjian;
Joy, Maliackal;
Hila, Regis;
Coletti, Caroline;
Wynn, Julia;
Loscertales, Maria;
Shan, Linshan;
Bult, Carol;
Wilson, Jay;
Shen, Yufeng;
Chung, Wendy;
Donahoe, Patricia

Publication type:

Article

De novo frameshift mutation in COUP-TFII ( NR2F2) in human congenital diaphragmatic hernia.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2457, doi. 10.1002/ajmg.a.37830

By:

High, Frances A.;
Bhayani, Pooja;
Wilson, Jay M.;
Bult, Carol J.;
Donahoe, Patricia K.;
Longoni, Mauro

Publication type:

Article

Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: Four additional cases support a role of genetic modifiers in the manifestation of the phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1400, doi. 10.1002/ajmg.a.36848

By:

Jamuar, Saumya S.;
Duzkale, Hatice;
Duzkale, Neslihan;
Zhang, Chengsheng;
High, Frances A.;
Kaban, Leonard;
Bhattacharya, Soma;
Crandall, Barbara;
Kantarci, Sibel;
Stoler, Joan M.;
Lin, Angela E.

Publication type:

Article

MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.

Published in:

Annals of Neurology, 2021, v. 89, n. 4, p. 828, doi. 10.1002/ana.26019

By:

Meng, Linyan;
Isohanni, Pirjo;
Shao, Yunru;
Graham, Brett H.;
Hickey, Scott E.;
Brooks, Stephanie;
Suomalainen, Anu;
Joset, Pascal;
Steindl, Katharina;
Rauch, Anita;
Hackenberg, Annette;
High, Frances A.;
Armstrong‐Javors, Amy;
Mencacci, Niccolò E.;
Gonzàlez‐Latapi, Paulina;
Kamel, Walaa A.;
Al‐Hashel, Jasem Y.;
Bustos, Bernabé I.;
Hernandez, Alejandro V.;
Krainc, Dimitri

Publication type:

Article

Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 1, p. 53, doi. 10.1002/ajmg.c.31760

By:

Lin, Angela E.;
Santoro, Stephanie;
High, Frances A.;
Goldenberg, Paula;
Gutmark‐Little, Iris

Publication type:

Article

Prenatal diagnosis of sex chromosome aneuploidy—What do we tell the prospective parents?

Published in:

Prenatal Diagnosis, 2023, v. 43, n. 2, p. 250, doi. 10.1002/pd.6256

By:

Reimers, Rebecca;
High, Frances;
Kremen, Jessica;
Wilkins‐Haug, Louise

Publication type:

Article

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.

Published in:

Genetics, 2023, v. 224, n. 4, p. 1, doi. 10.1093/genetics/iyad110

By:

Jangam, Sharayu V.;
Briere, Lauren C.;
Jay, Kristy L.;
Andrews, Jonathan C.;
Walker, Melissa A.;
Rodan, Lance H.;
High, Frances A.;
Yamamoto, Shinya;
Sweetser, David A.;
Wangler, Michael F.

Publication type:

Article

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 9, p. 1568, doi. 10.1093/hmg/ddaa081

By:

Dutta, Debdeep;
Briere, Lauren C;
Kanca, Oguz;
Marcogliese, Paul C;
Walker, Melissa A;
High, Frances A;
Vanderver, Adeline;
Krier, Joel;
Carmichael, Nikkola;
Callahan, Christine;
Taft, Ryan J;
Simons, Cas;
Helman, Guy;
Network, Undiagnosed Diseases;
Wangler, Michael F;
Yamamoto, Shinya;
Sweetser, David A;
Bellen, Hugo J

Publication type:

Article

Nuclear repositioning marks the selective exclusion of lineage-inappropriate transcription factor loci during T helper cell differentiation.

Published in:

European Journal of Immunology, 2004, v. 34, n. 12, p. 3604, doi. 10.1002/eji.200425469

By:

Hewitt, Susannah L.;
High, Frances A.;
Reiner, Steven L.;
Fisher, Amanda G.;
Merkenschlager, Matthias

Publication type:

Article