Erica E Davis

Erica E Davis

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Erica E Davis

Erica E Davis

Publications by authors named "Erica E Davis"

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Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.

Am J Hum Genet 2019 Jun 9;104(6):1073-1087. Epub 2019 May 9.

Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, 1211 Geneva, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556908PMC
June 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2019 Mar;104(3):562

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http://dx.doi.org/10.1016/j.ajhg.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
March 2019

The complexity of the cilium: spatiotemporal diversity of an ancient organelle.

Curr Opin Cell Biol 2018 12 20;55:139-149. Epub 2018 Aug 20.

Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27705, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09550674183010
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http://dx.doi.org/10.1016/j.ceb.2018.08.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6269220PMC
December 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2018 11 18;103(5):666-678. Epub 2018 Oct 18.

Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

Novel CASK mutations in cases with syndromic microcephaly.

Hum Mutat 2018 07 11;39(7):993-1001. Epub 2018 May 11.

Laboratory for Cytogenetics and Genome Research, Center for Human Genetics, KU Leuven, Leuven, Belgium.

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http://doi.wiley.com/10.1002/humu.23536
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http://dx.doi.org/10.1002/humu.23536DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5995665PMC
July 2018

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Am J Hum Genet 2018 05 12;102(5):744-759. Epub 2018 Apr 12.

Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986661PMC
May 2018

Temperature-activated ion channels in neural crest cells confer maternal fever-associated birth defects.

Sci Signal 2017 Oct 10;10(500). Epub 2017 Oct 10.

Division of Neonatology, Department of Pediatrics, Duke University Medical Center, Jean and George Brumley, Jr. Neonatal-Perinatal Institute, Durham, NC 27710, USA.

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http://dx.doi.org/10.1126/scisignal.aal4055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6502643PMC
October 2017

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 05;49(6):969

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http://dx.doi.org/10.1038/ng0617-969cDOI Listing
May 2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 Feb 9;49(2):238-248. Epub 2017 Jan 9.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473428PMC
February 2017

Ectopic Expression of Retrotransposon-Derived PEG11/RTL1 Contributes to the Callipyge Muscular Hypertrophy.

PLoS One 2015 16;10(10):e0140594. Epub 2015 Oct 16.

Unit of Animal Genomics, GIGA Research Center and Faculty of Veterinary Medicine, University of Liège, 1 Avenue de l'Hôpital, Liège, Belgium.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0140594PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608697PMC
June 2016

Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction.

Circ Cardiovasc Genet 2015 Aug 29;8(4):544-52. Epub 2015 May 29.

From the Human Genome Sequencing Center (M.N.B., M.W., H.D., D.M., E.B., R.G.), Department Pediatrics-Cardiology, Baylor College of Medicine, Houston, TX (H.R.M., R.P., J.L.J.); Codified Genomics, LLC, Houston, TX (M.N.B.); Center for Human Disease Modeling, Duke University Medical Center, Durham, NC (E.E.D., N.K.); and Department of Cell Biology, Duke University, Durham, NC (W.-Y.C., A.D.).

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http://dx.doi.org/10.1161/CIRCGENETICS.115.001026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4545476PMC
August 2015

In vivo Modeling Implicates APOL1 in Nephropathy: Evidence for Dominant Negative Effects and Epistasis under Anemic Stress.

PLoS Genet 2015 Jul 6;11(7):e1005349. Epub 2015 Jul 6.

Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005349DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4492502PMC
July 2015

Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.

F1000Prime Rep 2015 10;7:36. Epub 2015 Mar 10.

Center for Human Disease Modeling, Duke University Medical Center Durham, NC 27701 USA.

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http://dx.doi.org/10.12703/P7-36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4371376PMC
April 2015

Dissecting intraflagellar transport, one molecule at a time.

Dev Cell 2014 Nov 10;31(3):263-264. Epub 2014 Nov 10.

Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA. Electronic address:

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http://dx.doi.org/10.1016/j.devcel.2014.10.021DOI Listing
November 2014

Interpreting human genetic variation with in vivo zebrafish assays.

Biochim Biophys Acta 2014 Oct 2;1842(10):1960-1970. Epub 2014 Jun 2.

Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27710, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2014.05.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382103PMC
October 2014

Delta-like 1 homolog (dlk1): a marker for rhabdomyosarcomas implicated in skeletal muscle regeneration.

PLoS One 2013 5;8(4):e60692. Epub 2013 Apr 5.

Department of Pathology, Institute of Clinical Research, SDU Muscle Research Cluster (SMRC), University of Southern Denmark, Odense, Denmark.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0060692PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3618045PMC
October 2013

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Am J Hum Genet 2013 Aug 27;93(2):197-210. Epub 2013 Jun 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://www.cell.com/cms/attachment/2024885301/2044552963/mmc
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http://linkinghub.elsevier.com/retrieve/pii/S000292971300269
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http://dx.doi.org/10.1016/j.ajhg.2013.05.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738832PMC
August 2013

In vivo modeling of the morbid human genome using Danio rerio.

J Vis Exp 2013 Aug 24(78):e50338. Epub 2013 Aug 24.

Center for Human Disease Modeling, Department of Cell Biology, Duke University Medical Center, USA.

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http://dx.doi.org/10.3791/50338DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3856313PMC
August 2013

The ciliopathies: a transitional model into systems biology of human genetic disease.

Curr Opin Genet Dev 2012 Jun 23;22(3):290-303. Epub 2012 May 23.

Center for Human Disease Modeling, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.

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http://dx.doi.org/10.1016/j.gde.2012.04.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509787PMC
June 2012

The vertebrate primary cilium in development, homeostasis, and disease.

Cell 2009 Apr;137(1):32-45

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S009286740900322
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http://dx.doi.org/10.1016/j.cell.2009.03.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3016012PMC
April 2009

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

Nat Genet 2008 Apr 9;40(4):443-8. Epub 2008 Mar 9.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733. N Broadway, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1038/ng.97DOI Listing
April 2008

Cell polarization defects in early heart development.

Circ Res 2007 Jul;101(2):122-4

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http://dx.doi.org/10.1161/CIRCRESAHA.107.157446DOI Listing
July 2007

The emerging complexity of the vertebrate cilium: new functional roles for an ancient organelle.

Dev Cell 2006 Jul;11(1):9-19

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1016/j.devcel.2006.06.009DOI Listing
July 2006