Holly Dubbs

Holly Dubbs

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Holly Dubbs

Holly Dubbs

Publications by authors named "Holly Dubbs"

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29Publications

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A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.

Neurogenetics 2019 Aug 30;20(3):129-143. Epub 2019 Apr 30.

Institute for Molecular Virology, Department of Molecular Microbiology and Immunology, Saint Louis University School of Medicine, E. A. Doisy Research Center, 6th Floor, St. Louis, MO, 63104, USA.

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http://link.springer.com/10.1007/s10048-019-00578-1
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http://dx.doi.org/10.1007/s10048-019-00578-1DOI Listing
August 2019

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.

JAMA Netw Open 2019 Apr 5;2(4):e192129. Epub 2019 Apr 5.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1001/jamanetworkopen.2019.2129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481455PMC
April 2019

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Cell 2018 02;172(5):924-936.e11

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2018.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832058PMC
February 2018

X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans.

Mol Genet Metab 2017 11 1;122(3):130-133. Epub 2017 Sep 1.

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192173048
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http://dx.doi.org/10.1016/j.ymgme.2017.08.012DOI Listing
November 2017

CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues.

Am J Med Genet A 2017 Aug 15;173(8):2101-2107. Epub 2017 May 15.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.38277DOI Listing
August 2017

10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence.

Am J Med Genet A 2017 Mar;173(3):762-765

Division of Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.38080DOI Listing
March 2017

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

Neurology 2017 01 4;88(5):483-492. Epub 2017 Jan 4.

From the Danish Epilepsy Centre (R.S.M., K.M.J., M.N.), Dianalund; Institute for Regional Health Services (R.S.M., K.M.J., M.N.), University of Southern Denmark, Odense; Department of Neurology and Epileptology (T.V.W., S.V., H.L., S.M.), Hertie Institute for Clinical Brain Research, and Department of Neurosurgery (T.V.W.), University of Tübingen; Department of Neuropediatrics (I.H., M.P., S.v.S., H.M.), University Medical Center Schleswig-Holstein, Kiel, Germany; Division of Neurology (I.H., S.H., H.D.), The Children's Hospital of Philadelphia, PA; Neuroscience Department (C.M., R.G.), Children's Hospital Anna Meyer-University of Florence, Italy; Department of Genetics (E.H.B., M.S., K.L.v.G.), University Medical Center Utrecht, the Netherlands; Department of Neurology and Neurorehabilitation (U.V., I.T., T.T.), Children's Clinic of Tartu University Hospital, Estonia; Department of Pediatric Neurology and Epilepsy Center (I.B.), LMU Munich, Germany; Department of Pediatrics (I.T., T.T.), University of Tartu; Tallinn Children's Hospital (I.T.), Tallinn, Estonia; Clinic for Neuropediatrics and Neurorehabilitation (G.K., C.B., H.H.), Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Germany; Paracelsus Medical Private University (G.K.), Salzburg, Austria; Neuropeadiatric Department (L.L.F.), Hospices Civils de Lyon; Department of Genetics (G.L., N.C.), Lyon University Hospitals; Claude Bernard Lyon I University (G.L., N.C.); Lyon Neuroscience Research Centre (G.L., N.C.), CNRS UMR5292, INSERM U1028; Epilepsy, Sleep and Pediatric Neurophysiology Department (J.d.B.), Lyon University Hospitals, France; Clinic for Pediatric Neurology (S.B.), Pediatric Department, University Hospital, Herlev, Denmark; Kleinwachau (N.H.), Sächsisches Epilepsiezentrum Radeberg, Dresden; Department of Neuropediatrics/Epilepsy Center (J.J.), University Medical Center Freiburg; Department of General Paediatrics (S.S.), Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Department of Women and Child Health (S.S.), Hospital for Children and Adolescents, University of Leipzig Hospitals and Clinics, Germany; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Amplexa Genetics (L.H.G.L., H.A.D.), Odense, Denmark; Northern German Epilepsy Center for Children and Adolescents (S.v.S.), Schwentinental-Raisdorf, Germany; Wilhelm Johannsen Centre for Functional Genome Research (Y.M., N.T.), Department of Cellular and Molecular Medicine, University of Copenhagen; Danish Epilepsy Center (G.R.), Filadelfia/University of Copenhagen, Denmark; Department of Diagnostics (J.R.L.), Institute of Human Genetics, University of Leipzig; and Svt. Luka's Institute of Child Neurology and Epilepsy (K.M.), Moscow, Russia. Dr Maljevic is currently at the Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000003565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5278942PMC
January 2017

A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of .

Mol Genet Genomic Med 2016 Nov 28;4(6):599-603. Epub 2016 Sep 28.

Department of PediatricsDivision of NeurologyThe Children's Hospital of PhiladelphiaPhiladelphiaPennsylvania19104; Department of NeurologyThe Perelman School of Medicine at The University of PennsylvaniaPhiladelphiaPennsylvania19104; Department of NeuroscienceThe Perelman School of Medicine at The University of PennsylvaniaPhiladelphiaPennsylvania19104.

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http://dx.doi.org/10.1002/mgg3.236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5118204PMC
November 2016

Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies.

Am J Med Genet A 2015 Dec 21;167A(12):3091-5. Epub 2015 Jul 21.

Department of Pathology & Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.37261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4715567PMC
December 2015

Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.

Am J Med Genet A 2015 Nov 25;167A(11):2548-54. Epub 2015 Jun 25.

Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.37221DOI Listing
November 2015

Melorheostosis: segmental osteopoikilosis or a separate entity?

J Pediatr Orthop 2015 Mar;35(2):e13-7

*Division of Orthopaedic Surgery ‡Department of Genetics, The Children's Hospital of Philadelphia †Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.

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http://dx.doi.org/10.1097/BPO.0000000000000384DOI Listing
March 2015

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

Am J Hum Genet 2015 Mar 26;96(3):507-13. Epub 2015 Feb 26.

Department of Clinical Genetics, Karolinska University Hospital, 171 76 Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.ajhg.2015.01.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375419PMC
March 2015

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014