Benjamin Darbro

Benjamin Darbro

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Benjamin Darbro

Benjamin Darbro

Publications by authors named "Benjamin Darbro"

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Novel Intragenic Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes.

Curr Eye Res 2019 Aug 14:1-6. Epub 2019 Aug 14.

a Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa , Iowa City , IA , USA.

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http://dx.doi.org/10.1080/02713683.2019.1649704DOI Listing
August 2019

A case of primary cutaneous Ewing sarcoma in a neutropenic patient.

J Cutan Pathol 2019 Mar 16;46(3):238-241. Epub 2019 Jan 16.

Department of Dermatology, University of Iowa Hospitals and Clinics, Iowa City, Iowa.

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http://dx.doi.org/10.1111/cup.13406DOI Listing
March 2019

Uniparental disomy unveils a novel recessive mutation in POMT2.

Neuromuscul Disord 2018 07 10;28(7):592-596. Epub 2018 Apr 10.

Department of Pediatrics, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA; Department of Neurology, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183005
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http://dx.doi.org/10.1016/j.nmd.2018.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6115279PMC
July 2018

Changes in gene expression in small bowel neuroendocrine tumors associated with progression to metastases.

Surgery 2018 01 16;163(1):232-239. Epub 2017 Nov 16.

Department of Surgery, University of Iowa Carver College of Medicine, Iowa City, IA. Electronic address:

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http://dx.doi.org/10.1016/j.surg.2017.07.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5736454PMC
January 2018

Development of Secondary Acute Myeloid Leukemia in a Pediatric Patient Concurrently Receiving Primary Therapy for Ewing Sarcoma.

J Pediatr Hematol Oncol 2017 10;39(7):e370-e372

*University of Iowa Hospitals and Clinics, Iowa City, IA †Blank Children's Cancer and Blood Disorder Center, Des Moines, IA.

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http://dx.doi.org/10.1097/MPH.0000000000000924DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5772896PMC
October 2017

The Eating-Disorder Associated HDAC4 Mutation Alters Feeding Behaviors in Female Mice.

Biol Psychiatry 2017 05 13;81(9):770-777. Epub 2016 Oct 13.

Pharmacology, University of Iowa, Carver College of Medicine, Iowa City, Iowa. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2016.09.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5386818PMC
May 2017

Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia.

J Clin Res Pediatr Endocrinol 2017 Mar 31;9(1):70-73. Epub 2016 Oct 31.

The Children's Hospital of Philadelphia, Division of Neonatal and Perinatal Medicine, Philadelphia, USA Phone: +1 319 855-9093 E-mail:

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http://cms.galenos.com.tr/Uploads/Article_15638/70-73.pdf
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http://dx.doi.org/10.4274/jcrpe.3680DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363168PMC
March 2017

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.

Am J Hum Genet 2016 08 21;99(2):423-9. Epub 2016 Jul 21.

Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.05.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974069PMC
August 2016

Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate.

PLoS One 2016 2;11(3):e0149041. Epub 2016 Mar 2.

Interdisciplinary Program in Genetics, University of Iowa, Iowa City, Iowa, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0149041PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774916PMC
July 2016

Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy.

Epilepsy Res 2015 Nov 9;117:70-3. Epub 2015 Sep 9.

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09201211153004
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http://dx.doi.org/10.1016/j.eplepsyres.2015.09.007DOI Listing
November 2015

Esophageal cancer in a family with hamartomatous tumors and germline PTEN frameshift and SMAD7 missense mutations.

Cancer Genet 2015 Jan-Feb;208(1-2):41-6. Epub 2014 Nov 15.

Department of General Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cancergen.2014.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4355394PMC
May 2015

CNV-ROC: A cost effective, computer-aided analytical performance evaluator of chromosomal microarrays.

J Biomed Inform 2015 Apr 13;54:106-13. Epub 2015 Jan 13.

Department of Pediatrics, The University of Iowa, United States. Electronic address:

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http://dx.doi.org/10.1016/j.jbi.2015.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4936396PMC
April 2015

Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.

PLoS Genet 2015 Mar 12;11(3):e1005022. Epub 2015 Mar 12.

Department of Pediatrics, The University of Iowa, Iowa City, Iowa, United States of America; Interdisciplinary Program in Genetics, The University of Iowa, Iowa City, Iowa, United States of America; Roy J. and Lucille A. Carver College of Medicine, The University of Iowa, Iowa City, Iowa, United States of America; Interdisciplinary Graduate Program in Molecular and Cellular Biology, The University of Iowa, Iowa City, Iowa, United States of America; Interdisciplinary Graduate Program in Neuroscience, The University of Iowa, Iowa City, Iowa, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4357451PMC
March 2015

Heritability of glutathione and related metabolites in stored red blood cells.

Free Radic Biol Med 2014 Nov 7;76:107-13. Epub 2014 Aug 7.

Free Radical and Radiation Biology Program, Radiation Oncology, The University of Iowa, Iowa City, IA 52242, USA; Holden Comprehensive Cancer Center, The University of Iowa, Iowa City, IA 52242, USA. Electronic address:

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http://dx.doi.org/10.1016/j.freeradbiomed.2014.07.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4252477PMC
November 2014

RABL6A promotes G1-S phase progression and pancreatic neuroendocrine tumor cell proliferation in an Rb1-dependent manner.

Cancer Res 2014 Nov 1;74(22):6661-70. Epub 2014 Oct 1.

Department of Pharmacology, University of Iowa, Iowa City, Iowa. Molecular and Cellular Biology Graduate Program, University of Iowa, Iowa City, Iowa. Medical Scientist Training Program, University of Iowa, Iowa City, Iowa. The Holden Comprehensive Cancer Center, University of Iowa, Iowa City, Iowa. Department of Pathology, College of Medicine, University of Iowa, Iowa City, Iowa.

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http://dx.doi.org/10.1158/0008-5472.CAN-13-3742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4233153PMC
November 2014

Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?

Tremor Other Hyperkinet Mov (N Y) 2014 20;4:258. Epub 2014 Oct 20.

Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA, USA ; Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.

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http://dx.doi.org/10.7916/D8FB51G3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4219111PMC
November 2014

PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.

PLoS One 2013 3;8(12):e80737. Epub 2013 Dec 3.

The University of Iowa, Iowa City, Iowa, United States of America ; Department of Pediatrics, The University of Iowa, Iowa City, Iowa, United States of America ; Interdisciplinary Program in Genetics, The University of Iowa, Iowa City, Iowa, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0080737PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3849077PMC
August 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

G-protein coupled receptor expression patterns delineate medulloblastoma subgroups.

Acta Neuropathol Commun 2013 Oct 10;1:66. Epub 2013 Oct 10.

Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA 2524 JCP, USA.

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http://dx.doi.org/10.1186/2051-5960-1-66DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893540PMC
October 2013

Lactobacillus delbrueckii as the cause of urinary tract infection.

J Clin Microbiol 2009 Jan 5;47(1):275-7. Epub 2008 Nov 5.

Department of Pathology, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242-1009, USA.

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http://jcm.asm.org/cgi/doi/10.1128/JCM.01630-08
Publisher Site
http://dx.doi.org/10.1128/JCM.01630-08DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2620876PMC
January 2009

Co-regulation of p16INK4A and migratory genes in culture conditions that lead to premature senescence in human keratinocytes.

J Invest Dermatol 2005 Sep;125(3):499-509

Interdisciplinary Program in Molecular Biology and Medical Scientist Training Program, University of Iowa, Iowa City, 52242, USA.

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http://dx.doi.org/10.1111/j.0022-202X.2005.23844.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2020850PMC
September 2005