Publications by authors named "Nicholas Katsanis"

100Publications

Genetics and functions of the retinoic acid pathway, with special emphasis on the eye.

Hum Genomics 2019 12 3;13(1):61. Epub 2019 Dec 3.

Department of Environmental Health Sciences, Yale School of Public Health, 60 College St, New Haven, CT, 06520, USA.

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http://dx.doi.org/10.1186/s40246-019-0248-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892198PMC
December 2019

Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies.

JCI Insight 2019 11 14;4(22). Epub 2019 Nov 14.

Center for Human Disease Modeling, Duke University School of Medicine, Durham, North Carolina, USA.

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http://dx.doi.org/10.1172/jci.insight.130516DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6948861PMC
November 2019

Analysis of Single Nucleotide Variants in CRISPR-Cas9 Edited Zebrafish Exomes Shows No Evidence of Off-Target Inflation.

Front Genet 2019 11;10:949. Epub 2019 Oct 11.

Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, United States.

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http://dx.doi.org/10.3389/fgene.2019.00949DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6797590PMC
October 2019

A Genocentric Approach to Discovery of Mendelian Disorders.

Am J Hum Genet 2019 11 24;105(5):974-986. Epub 2019 Oct 24.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6849092PMC
November 2019

Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development.

Cell Rep 2019 09;28(13):3320-3328.e4

Department of Psychiatry, University of California, San Diego, La Jolla, CA 92093, USA; Beyster Center for Genomics of Psychiatric Diseases, University of California, San Diego, La Jolla, CA 92093, USA; Institute for Genomic Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2019.08.071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6988705PMC
September 2019

Polyketide Synthase Plays a Conserved Role in Otolith Formation.

Zebrafish 2019 08 12;16(4):363-369. Epub 2019 Jun 12.

2Center for Human Disease Modeling, Division of Nephrology, Duke University School of Medicine, Durham, North Carolina.

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http://dx.doi.org/10.1089/zeb.2019.1734DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6685216PMC
August 2019

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

Am J Hum Genet 2019 06 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

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.

Hum Genomics 2019 04 16;13(1):19. Epub 2019 Apr 16.

Center for Human Disease Modeling, Duke University Medical Center, Carmichael Building, 300 North Duke Street, Suite 48-118, Durham, NC, 27701, USA.

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http://dx.doi.org/10.1186/s40246-019-0203-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469102PMC
April 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

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

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

Biallelic mutations in early-onset, variably progressive neurodegeneration.

Neurology 2018 07 29;91(4):e319-e330. Epub 2018 Jun 29.

From the Genetics and Rare Diseases Research Division (V.M., G.C., T.R., M.D.N., A.C., F.P., R.C., M.T.), Ospedale Pediatrico Bambino Gesù; Department of Oncology and Molecular Medicine (E.F., S.M.) and Confocal Microscopy Unit (S.C.), Core Facilities, Istituto Superiore di Sanità, Rome, Italy; Center for Human Disease Modeling (Z.K., M.M.K., N.K.), Duke University School of Medicine, Durham, NC; Institutes of Neurology (G.P., S.S.) and Nuclear Medicine (D.D.G.), Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy; Department of Genetics (H.G., N.M.), Faculty of Science, Shahid Chamran University of Ahvaz; Narges Medical Genetics and Prenatal Diagnosis Laboratory (H.G., N.M., A. Sedaghat, J.Z., G.R.S.), Kianpars, Ahvaz; Research and Clinical Center for Infertility (M.D.), Yazd Reproductive Sciences Institute, Medical Genetics Research Centre (M.D., M.Y.V.M.), and Department of Medical Genetics (M.Y.V.M.), Shahid Sadoughi University of Medical Sciences, Yazd, Iran; Department of Experimental Medicine (A.T., V.C.), Università "Sapienza," Rome, Italy; Genetics and Molecular Cell Sciences Research Centre (Y.J., R.M.), St. George's University of London, UK; Department of Paediatric Neurology (R.A.M.), Golestan Medical, Educational, and Research Center, and Department of Medical Genetics (G.R.S.), Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Iran; University of Exeter Medical School (A.R.J.), RILD, Royal Devon & Exeter Hospital, UK; and Department of Neurology (A. Sherafat), Kerman University of Medical Sciences, Iran.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000005869DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070386PMC
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

2017 Curt Stern Award: The Complexity of Simple Genetics.

Am J Hum Genet 2018 Mar;102(3):355-358

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.ajhg.2018.02.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985343PMC
March 2018

Point: Treating Human Genetic Disease One Base Pair at a Time: The Benefits of Gene Editing.

Clin Chem 2018 03;64(3):486-488

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

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http://dx.doi.org/10.1373/clinchem.2017.278309DOI Listing
March 2018

Endoglin interacts with VEGFR2 to promote angiogenesis.

FASEB J 2018 06 11;32(6):2934-2949. Epub 2018 Jan 11.

Division of Medical Oncology, Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA.

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http://dx.doi.org/10.1096/fj.201700867RRDOI Listing
June 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

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Am J Hum Genet 2017 Sep;101(3):466-477

Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591022PMC
September 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

The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling.

PLoS One 2017 14;12(3):e0173399. Epub 2017 Mar 14.

Program in Developmental Biology, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, 1275 York Ave. New York, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0173399PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5349470PMC
September 2017

Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration.

Invest Ophthalmol Vis Sci 2017 03;58(3):1570-1576

Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, United States 2Department of Cell Biology, Duke University Medical Center, Durham, North Carolina, United States.

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http://dx.doi.org/10.1167/iovs.16-20867DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6022411PMC
March 2017

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

N Engl J Med 2017 02 25;376(8):742-754. Epub 2017 Jan 25.

From the Division of Nephrology (E.L.-R., M.V., V.P.C., Z.Y., A.M., J.M., N.J.S., D.A.F., R.D., M.W., G.S.M., M.B., J.M.B., K.K., A.G.G., S.S.-C.) and the Division of Nephrology in Medicine and Zuckerman Mind Brain Behavior Institute (B.H.), the Departments of Systems Biology (D.S.P., B.H.), Biochemistry and Molecular Biophysics (B.H.), and Pathology (V.D.), and the Howard Hughes Medical Institute (D.S.P., B.H.), Columbia University, and the Department of Genetics and Development, Columbia University Medical Center (Q.L., V.E.P.), New York, and the Department of Genetics, Albert Einstein College of Medicine, Bronx (S.E.R., B.E.M.) - all in New York; the Center for Human Disease Modeling, Duke University, Durham, NC (Y.P.L., B.R.A., N. Katsanis); the Departments of Internal Medicine-Nephrology (E.A.O.) and Pediatrics-Nephrology (M.G.S., C.E.G., V.V.-W.), University of Michigan School of Medicine, Ann Arbor; the Department of Anatomy, Histology, and Embryology, School of Medicine, University of Split (K.V., M.S.-B.), and the Departments of Pediatrics (A.A., M. Saraga) and Pathology (N. Kunac), University Hospital of Split, Split, Croatia; the Department of Pediatric Nephrology, VU University Medical Center, Amsterdam (R.W., J.A.E.W.); the Department of Medicine, Boston Children's Hospital (A.V., F.H.), and Harvard Medical School, Boston (A.V., F.H., I.A.D.), and the Nephrology Division, Massachusetts General Hospital, Charlestown (I.A.D.) - all in Massachusetts; the Division of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia, Istituto G. Gaslini, Genoa (M.B., A.C., G.M.G.), the Department of Clinical and Experimental Medicine, University of Parma (M.B., M. Maiorana, L.A.), and the Pediatric Surgery Unit, University Hospital of Parma (E.C.), Parma, the Section of Nephrology, Department of Emergency and Organ Transplantation, University of Bari, Bari (L.G.), the Department of Medical Sciences, University of Milano, and Institute of Biomedical Technologies, Italian National Institute of Research ITB-CNR, Milan (D.C.), and Dipartimento Ostetrico-Ginecologico e Seconda Divisione di Nefrologia ASST Spedali Civili e Presidio di Montichiari (C.I.) and Cattedra di Nefrologia, Università di Brescia, Seconda Divisione di Nefrologia Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari (F.S.), Brescia - all in Italy; the Department of General and Transplant Surgery, University Hospital of Heidelberg, Germany (V.J.L.); the Department of Pediatric Nephrology, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (R.S., L.H., C.J.), INSERM UMR 1163, Laboratory of Hereditary Kidney Diseases (R.S.), Necker-Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cite University, Imagine Institute (R.S.), Sorbonne Universités, UPMC 06, Plateforme Post-génomique de la Pitié-Salpêtrière, UMS 2 Omique, Inserm US029 (W.C.), Paris, and the Department of Genetics, Centre Hospitalier Universitaire de Reims, Unité de Formation et de Recherche de Médecine, Reims (D.G.) - both in France; the Department of Neurology, University of Washington School of Medicine, and Northwest VA Parkinson's Disease Research, Education and Clinical Centers, Seattle (A. Samii); the Division of Human Genetics, Department of Pediatrics, 22q and You Center, Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania (D.M.M.-M., T.B.C., E.H.Z., S.L.F.), Division of Nephrology, Children's Hospital of Philadelphia (S.L.F.), and the Department of Genetics, University of Pennsylvania (H.H.), Philadelphia; the Dialysis Unit, Jagiellonian University Medical College (D.D.), and the Department of Pediatric Nephrology, Jagiellonian University Medical College (M. Miklaszewska), Krakow, the Department of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Lodz (M.T.), the Department of Pediatric Nephrology Medical University of Lublin, Lublin (P.S.), the Department of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Katowice (M. Szczepanska), the Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw (M.M.-W., G.K., A. Szmigielska), and Krysiewicza Children's Hospital (M.Z.) and the Department of Medical Genetics, Poznan University of Medical Sciences, and Center for Medical Genetics GENESIS (A.L.-B., A.M.-K.), Poznań - all in Poland; the Department of Clinical Genetics (J.M.D., D.B.), National Children's Research Centre (J.M.D., P.P.), and University College Dublin School of Medicine (D.B.), Our Lady's Children's Hospital Crumlin, and the National Children's Hospital Tallaght (P.P.), Dublin, Ireland; the Division of Pediatric Nephrology, Children's Mercy Hospital, Kansas City, MO (B.A.W.); University Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia (Z.G., V.T.); Faculty of Medicine, Palacky University, Olomouc, Czech Republic (H.F.); the Division of Pediatric Nephrology, University of New Mexico Children's Hospital, Albuquerque (C.S.W.); Ben May Department for Cancer Research, University of Chicago, Chicago (A.I.); and the Department of Genetics, Howard Hughes Medical Institute, and Yale Center for Mendelian Genomics, Yale University, New Haven, CT (R.P.L.).

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http://dx.doi.org/10.1056/NEJMoa1609009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5559731PMC
February 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

The continuum of causality in human genetic disorders.

Genome Biol 2016 11 17;17(1):233. Epub 2016 Nov 17.

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

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http://dx.doi.org/10.1186/s13059-016-1107-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5114767PMC
November 2016

AMD and the alternative complement pathway: genetics and functional implications.

Hum Genomics 2016 06 21;10(1):23. Epub 2016 Jun 21.

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

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http://dx.doi.org/10.1186/s40246-016-0079-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4915094PMC
June 2016

The Genetic Basis of Hydrocephalus.

Annu Rev Neurosci 2016 07 2;39:409-35. Epub 2016 May 2.

Center for Human Disease Modeling, Duke University School of Medicine, Durham, North Carolina 27701; email:

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http://dx.doi.org/10.1146/annurev-neuro-070815-014023DOI Listing
July 2016

Mitochondrial Copy Number as a Biomarker for Autism?

Pediatrics 2016 04 31;137(4). Epub 2016 Mar 31.

Center for Human Disease Modeling, Duke University School of Medicine, Durham, North Carolina

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http://dx.doi.org/10.1542/peds.2016-0049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811322PMC
April 2016

The potential of DISC1 protein as a therapeutic target for mental illness.

Expert Opin Ther Targets 2016 06 15;20(6):641-3. Epub 2016 Feb 15.

b Center for Human Disease Modeling and Departments of Cell Biology and Pediatrics , Duke University School of Medicine , Durham , NC , USA.

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http://dx.doi.org/10.1517/14728222.2016.1146694DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5476421PMC
June 2016

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

Authors:
Lars G Fritsche Wilmar Igl Jessica N Cooke Bailey Felix Grassmann Sebanti Sengupta Jennifer L Bragg-Gresham Kathryn P Burdon Scott J Hebbring Cindy Wen Mathias Gorski Ivana K Kim David Cho Donald Zack Eric Souied Hendrik P N Scholl Elisa Bala Kristine E Lee David J Hunter Rebecca J Sardell Paul Mitchell Joanna E Merriam Valentina Cipriani Joshua D Hoffman Tina Schick Yara T E Lechanteur Robyn H Guymer Matthew P Johnson Yingda Jiang Chloe M Stanton Gabriëlle H S Buitendijk Xiaowei Zhan Alan M Kwong Alexis Boleda Matthew Brooks Linn Gieser Rinki Ratnapriya Kari E Branham Johanna R Foerster John R Heckenlively Mohammad I Othman Brendan J Vote Helena Hai Liang Emmanuelle Souzeau Ian L McAllister Timothy Isaacs Janette Hall Stewart Lake David A Mackey Ian J Constable Jamie E Craig Terrie E Kitchner Zhenglin Yang Zhiguang Su Hongrong Luo Daniel Chen Hong Ouyang Ken Flagg Danni Lin Guanping Mao Henry Ferreyra Klaus Stark Claudia N von Strachwitz Armin Wolf Caroline Brandl Guenther Rudolph Matthias Olden Margaux A Morrison Denise J Morgan Matthew Schu Jeeyun Ahn Giuliana Silvestri Evangelia E Tsironi Kyu Hyung Park Lindsay A Farrer Anton Orlin Alexander Brucker Mingyao Li Christine A Curcio Saddek Mohand-Saïd José-Alain Sahel Isabelle Audo Mustapha Benchaboune Angela J Cree Christina A Rennie Srinivas V Goverdhan Michelle Grunin Shira Hagbi-Levi Peter Campochiaro Nicholas Katsanis Frank G Holz Frédéric Blond Hélène Blanché Jean-François Deleuze Robert P Igo Barbara Truitt Neal S Peachey Stacy M Meuer Chelsea E Myers Emily L Moore Ronald Klein Michael A Hauser Eric A Postel Monique D Courtenay Stephen G Schwartz Jaclyn L Kovach William K Scott Gerald Liew Ava G Tan Bamini Gopinath John C Merriam R Theodore Smith Jane C Khan Humma Shahid Anthony T Moore J Allie McGrath Reneé Laux Milam A Brantley Anita Agarwal Lebriz Ersoy Albert Caramoy Thomas Langmann Nicole T M Saksens Eiko K de Jong Carel B Hoyng Melinda S Cain Andrea J Richardson Tammy M Martin John Blangero Daniel E Weeks Bal Dhillon Cornelia M van Duijn Kimberly F Doheny Jane Romm Caroline C W Klaver Caroline Hayward Michael B Gorin Michael L Klein Paul N Baird Anneke I den Hollander Sascha Fauser John R W Yates Rando Allikmets Jie Jin Wang Debra A Schaumberg Barbara E K Klein Stephanie A Hagstrom Itay Chowers Andrew J Lotery Thierry Léveillard Kang Zhang Murray H Brilliant Alex W Hewitt Anand Swaroop Emily Y Chew Margaret A Pericak-Vance Margaret DeAngelis Dwight Stambolian Jonathan L Haines Sudha K Iyengar Bernhard H F Weber Gonçalo R Abecasis Iris M Heid

Nat Genet 2016 Feb 21;48(2):134-43. Epub 2015 Dec 21.

Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.

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http://dx.doi.org/10.1038/ng.3448DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745342PMC
February 2016

Newborn screening and the era of medical genomics.

Semin Perinatol 2015 Dec 21;39(8):617-22. Epub 2015 Oct 21.

Center for Human Disease Modeling, Duke University School of Medicine, 300 N Duke St, Durham, NC 27701. Electronic address:

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http://dx.doi.org/10.1053/j.semperi.2015.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4644676PMC
December 2015

Phosphorylation of Threonine 794 on Tie1 by Rac1/PAK1 Reveals a Novel Angiogenesis Regulatory Pathway.

PLoS One 2015 5;10(10):e0139614. Epub 2015 Oct 5.

Department of Pharmacology and Cancer Biology, Duke University Medical Center, Durham, North Carolina, United States of America; Department of Medicine, Division of Cardiology, Duke University Medical Center, Durham, North Carolina, United States of America; Duke University School of Medicine, Duke University Medical Center, Durham, North Carolina, United States of America.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4593579PMC
June 2016

A human laterality disorder caused by a homozygous deleterious mutation in MMP21.

J Med Genet 2015 Dec 1;52(12):840-7. Epub 2015 Oct 1.

Center for Human Disease Modeling, Duke University, Durham, North Carolina, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103336DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4936483PMC
December 2015

Transient laminin beta 1a Induction Defines the Wound Epidermis during Zebrafish Fin Regeneration.

PLoS Genet 2015 Aug 25;11(8):e1005437. Epub 2015 Aug 25.

Department of Cell Biology and Howard Hughes Medical Institute, Duke University School of Medicine, Durham, North Carolina, United States of America.

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http://dx.plos.org/10.1371/journal.pgen.1005437
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http://dx.doi.org/10.1371/journal.pgen.1005437DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4549328PMC
August 2015

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.

Hum Mol Genet 2015 Oct 17;24(20):5677-86. Epub 2015 Jul 17.

Bioinformatics and Genomics Program, Centre for Genomic Regulation (CRG), Barcelona, Spain, Universitat Pompeu Fabra (UPF), Barcelona, Spain, Hospital del Mar Medical Research Institute (IMIM), Barcelona, Spain, CRG CIBER de Epidemiología y Salud Pública (CIBERESP), Barcelona, Catalonia 08003, Spain, Dexeus Women's Health, University Hospital Quiron-Dexeus, Barcelona, Catalonia 08028, Spain

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http://dx.doi.org/10.1093/hmg/ddv281DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692992PMC
October 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

Genetic modifiers and oligogenic inheritance.

Cold Spring Harb Perspect Med 2015 Jun 1;5(6). Epub 2015 Jun 1.

Center for Human Disease Modeling, Duke University, Durham, North Carolina 27710.

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http://dx.doi.org/10.1101/cshperspect.a017145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4448705PMC
June 2015

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

Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.

Am J Hum Genet 2015 Jun 21;96(6):883-93. Epub 2015 May 21.

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany; Department of Neurology and Neurological Sciences and Center for Sleep Sciences and Medicine, Stanford University School of Medicine, Palo Alto, CA 94304, USA; Institut für Humangenetik, Helmholtz Zentrum München, 85764 Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, 81377 Munich, Germany. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4457951PMC
June 2015

Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly.

J Neurosci 2015 May;35(18):7003-18

Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, North Carolina 27710, Department of Cell Biology, Department of Neurobiology, and Duke Institute for Brain Sciences, Duke University Medical Center, Durham, North Carolina 27710

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http://dx.doi.org/10.1523/JNEUROSCI.0018-15.2015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4420776PMC
May 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

Loss of δ-catenin function in severe autism.

Nature 2015 Apr 25;520(7545):51-6. Epub 2015 Mar 25.

1] Center for Complex Disease Genomics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA [2] National Institute of Mental Health (NIMH) Autism Centers of Excellence (ACE) Genetics Consortium at the University of California, Los Angeles, Los Angeles, California 90095, USA.

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http://dx.doi.org/10.1038/nature14186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383723PMC
April 2015

Neuroanatomical and behavioral deficits in mice haploinsufficient for Pericentriolar material 1 (Pcm1).

Neurosci Res 2015 Sep 16;98:45-9. Epub 2015 Feb 16.

Department of Psychiatry, Johns Hopkins University School of Medicine, 600 N. Wolfe St., Baltimore, MD 21287, United States. Electronic address:

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http://dx.doi.org/10.1016/j.neures.2015.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4522364PMC
September 2015