Gail Herman

Gail Herman

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Gail Herman

Gail Herman

Publications by authors named "Gail Herman"

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CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.

Eur J Med Genet 2019 Mar 2. Epub 2019 Mar 2.

Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH, 43205, USA; The Ohio State University College of Medicine, Columbus, OH, 43210, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.02.008DOI Listing
March 2019

Language Regression in an Atypical SLC6A1 Mutation.

Semin Pediatr Neurol 2018 07;26:25-27

Department of Pediatrics and Neurology, Nationwide Children's Hospital, Columbus, OH; Ohio State University College of Medicine, Columbus, OH. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2018.04.001DOI Listing
July 2018

A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.

J Med Genet 2017 07 19;54(7):471-478. Epub 2017 May 19.

Center for Molecular and Human Genetics, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.

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http://dx.doi.org/10.1136/jmedgenet-2016-104484DOI Listing
July 2017

Endogenous Sterol Metabolites Regulate Growth of EGFR/KRAS-Dependent Tumors via LXR.

Cell Rep 2015 Sep 3;12(11):1927-38. Epub 2015 Sep 3.

Molecular Therapeutics Program, Fox Chase Cancer Center, Philadelphia, PA 19111, USA; Institute of Fundamental Medicine and Biology, Kazan Federal University, Kazan, Tatarstan 420000, Russia. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2015.08.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4581991PMC
September 2015

Reporting genomic secondary findings: ACMG members weigh in.

Genet Med 2015 Jan 13;17(1):27-35. Epub 2014 Nov 13.

1] Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA [2] Department of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

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http://dx.doi.org/10.1038/gim.2014.165DOI Listing
January 2015

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.

Am J Med Genet A 2014 Nov 22;164A(11):2892-900. Epub 2014 Sep 22.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.36709
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http://dx.doi.org/10.1002/ajmg.a.36709DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205164PMC
November 2014

Family-based clinical associations and functional characterization of the serotonin 2A receptor gene (HTR2A) in autism spectrum disorder.

Autism Res 2014 Aug 17;7(4):459-67. Epub 2014 Apr 17.

Department of Pharmacology, OSU College of Medicine Center for Pharmacogenomics, The Ohio State University, Columbus, Ohio.

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http://doi.wiley.com/10.1002/aur.1383
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http://dx.doi.org/10.1002/aur.1383DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4134733PMC
August 2014

Analysis of two candidate genes for Basan syndrome.

Am J Med Genet A 2014 May 24;164A(5):1188-91. Epub 2014 Mar 24.

Department of Dermatology, Geisinger Medical Center, Danville, Pennsylvania.

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http://doi.wiley.com/10.1002/ajmg.a.36438
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http://dx.doi.org/10.1002/ajmg.a.36438DOI Listing
May 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

Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.

Am J Med Genet C Semin Med Genet 2012 Nov 5;160C(4):301-21. Epub 2012 Oct 5.

Center for Molecular and Human Genetics, The Research Institute at Nationwide Children's Hospital, 700 Children's Dr. Rm W403, Columbus, OH 43205, USA.

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http://doi.wiley.com/10.1002/ajmg.c.31340
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http://dx.doi.org/10.1002/ajmg.c.31340DOI Listing
November 2012

Malformation syndromes caused by disorders of cholesterol synthesis.

J Lipid Res 2011 Jan 7;52(1):6-34. Epub 2010 Oct 7.

Program in Developmental Genetics and Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1194/jlr.R009548DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2999931PMC
January 2011

Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia.

Am J Med Genet A 2010 Jun;152A(6):1545-9

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.a.33395DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2914310PMC
June 2010

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.

Autism Res 2010 Jun;3(3):137-41

Center for Molecular and Human Genetics, Research Institute at Nationwide Children's Hospital, Columbus, Ohio 43205, USA.

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http://dx.doi.org/10.1002/aur.132DOI Listing
June 2010

A tale of two deletions: a report of two novel 20p13 --> pter deletions.

Am J Med Genet A 2010 Apr;152A(4):1000-7

Department of Medical & Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202-5251, USA.

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http://dx.doi.org/10.1002/ajmg.a.33339DOI Listing
April 2010

Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.

Hum Mol Genet 2010 Jan 30;19(2):364-73. Epub 2009 Oct 30.

Department of Pediatrics, The Research Institute at Nationwide Children's Hospital, The Ohio State University, Columbus, OH 43205, USA.

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http://dx.doi.org/10.1093/hmg/ddp502DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2796896PMC
January 2010

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

Genet Med 2009 Feb;11(2):111-7

Center for Molecular and Human Genetics, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio 43205, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31818fd762DOI Listing
February 2009

Genetic testing in autism: how much is enough?

Genet Med 2007 May;9(5):268-74

Center for Molecular and Human Genetics, Columbus Children's Research Institute, Columbus, Ohio 43205, USA.

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http://dx.doi.org/10.1097GIM.0b013e31804d683bDOI Listing
May 2007

Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.

Am J Med Genet A 2007 Mar;143A(6):589-93

Center for Molecular and Human Genetics, Columbus Children Research Institute, The Ohio State University, Columbus, Ohio, USA.

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http://dx.doi.org/10.1002/ajmg.a.31619DOI Listing
March 2007

Analysis of Nsdhl-deficient embryos reveals a role for Hedgehog signaling in early placental development.

Hum Mol Genet 2006 Nov 6;15(22):3293-305. Epub 2006 Oct 6.

Center for Molecular and Human Genetics, Columbus Children's Research Institute, Department of Pediatrics, The Ohio State University, Columbus, OH 43205, USA.

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http://dx.doi.org/10.1093/hmg/ddl405DOI Listing
November 2006

Pbx1 and Meis1 regulate activity of the Xenopus laevis Zic3 promoter through a highly conserved region.

Biochem Biophys Res Commun 2006 Jun 19;344(3):1031-7. Epub 2006 Apr 19.

Center for Molecular and Human Genetics, Columbus Children's Research Institute, The Ohio State University, Columbus, OH 43205, USA.

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http://dx.doi.org/10.1016/j.bbrc.2006.03.235DOI Listing
June 2006

Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblasts.

J Lipid Res 2005 Jun 1;46(6):1150-62. Epub 2005 Apr 1.

Center for Molecular and Human Genetics, Columbus Children's Research Institute, Ohio State University, Columbus, OH, USA.

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http://www.jlr.org/lookup/doi/10.1194/jlr.M400462-JLR200
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http://dx.doi.org/10.1194/jlr.M400462-JLR200DOI Listing
June 2005

Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme.

Mol Genet Metab 2005 Jan;84(1):48-60

Center for Molecular and Human Genetics, Columbus Children's Research Institute, The Ohio State University, Columbus, OH 43205, USA.

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http://dx.doi.org/10.1016/j.ymgme.2004.08.007DOI Listing
January 2005

Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast.

Mol Genet Metab 2003 Sep-Oct;80(1-2):227-33

Department of Pediatrics, Center for Molecular and Human Genetics, Columbus Children's Research Institute, 700 Children's Dr Rm W403, Columbus, OH 43205, USA.

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November 2004

NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets.

Hum Mol Genet 2003 Nov 23;12(22):2981-91. Epub 2003 Sep 23.

Center for Molecular and Human Genetics, Columbus Children's Research Institute, 700 Children's Drive, Columbus, OH 43205, USA.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddg321DOI Listing
November 2003

Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene.

Am J Med Genet A 2003 Oct;122A(3):246-51

Department of Pediatrics, West Virginia University School of Medicine, Morgantown, WV, USA.

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http://dx.doi.org/10.1002/ajmg.a.20248DOI Listing
October 2003

Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).

Genet Med 2002 Nov-Dec;4(6):434-8

Children's Research Institute and Department of Pediatrics, The Ohio State University, Columbus, Ohio 43205, USA.

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http://dx.doi.org/10.109700125817-200211000-00006DOI Listing
May 2003

Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.

Authors:
Gail E Herman

Hum Mol Genet 2003 Apr;12 Spec No 1:R75-88

Center for Molecular and Human Genetics, Columbus Children's Research Institute and Department of Pediatrics, The Ohio State University, Columbus, OH 43205, USA.

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http://dx.doi.org/10.1093/hmg/ddg072DOI Listing
April 2003

Leigh disease with mitochondrial DNA A8344G mutation: case report and brief review.

J Child Neurol 2003 Jan;18(1):62-4

Department of Pediatrics, The Ohio State University, Children's Radiological Institute, Children's Hospital, Columbus, USA.

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http://dx.doi.org/10.1177/08830738030180011401DOI Listing
January 2003

Genotype-phenotype correlations in X-linked myotubular myopathy.

Neuromuscul Disord 2002 Dec;12(10):939-46

Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.

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December 2002

Mouse models of human disease: lessons learned and promises to come.

Authors:
Gail E Herman

ILAR J 2002 ;43(2):55-6

Children's Research Institute and Division of Molecualr and Human Genetics, Department of Pediatrics, The Ohio State University, Columbus, OH, USA.

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http://dx.doi.org/10.1093/ilar.43.2.55DOI Listing
April 2002

exma: an X-linked insertional mutation that disrupts forebrain and eye development.

Mamm Genome 2002 Apr;13(4):179-85

Division of Human and Molecular Genetics, Dept. of Pediatrics and Children's Research Institute, The Ohio State University, Children's Research Institute, 700 Children's Drive, Rm. 403, Columbus, Ohio 43205, USA.

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http://dx.doi.org/10.1007/s00335-001-2121-zDOI Listing
April 2002

Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.

Hum Mutat 2002 Feb;19(2):114-21

Children's Research Institute and the Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA.

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http://dx.doi.org/10.1002/humu.10033DOI Listing
February 2002