Andrea Gropman

Andrea Gropman

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Andrea Gropman

Andrea Gropman

Publications by authors named "Andrea Gropman"

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A review of the intriguing interaction between testosterone and neurocognitive development in males with 47,XXY.

Curr Opin Obstet Gynecol 2020 Apr;32(2):140-146

Division of Neurogenetics and Developments Pediatrics, Children's National Hospital.

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http://dx.doi.org/10.1097/GCO.0000000000000612DOI Listing
April 2020

Musculoskeletal abnormalities in a large international cohort of boys with 49,XXXXY.

Am J Med Genet A 2020 Apr 3. Epub 2020 Apr 3.

The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia, USA.

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http://dx.doi.org/10.1002/ajmg.a.61578DOI Listing
April 2020

Impact of early diagnosis and noninvasive prenatal testing (NIPT): Knowledge, attitudes, and experiences of parents of children with sex chromosome aneuploidies (SCAs).

Prenat Diagn 2020 Mar 4;40(4):470-480. Epub 2019 Dec 4.

Department of Neurology, George Washington University, Washington, District of Columbia.

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http://dx.doi.org/10.1002/pd.5580DOI Listing
March 2020

Evaluation of neurocognitive function of prefrontal cortex in ornithine transcarbamylase deficiency.

Mol Genet Metab 2020 Mar 10;129(3):207-212. Epub 2020 Jan 10.

NIH, National Institute of Child Health and Human Development, Bethesda, MD 20892, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.12.014DOI Listing
March 2020

A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.

Am J Med Genet A 2020 Mar 9. Epub 2020 Mar 9.

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

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http://dx.doi.org/10.1002/ajmg.a.61542DOI Listing
March 2020

Neurodevelopmental outcome of prenatally diagnosed boys with 47,XXY (Klinefelter syndrome) and the potential influence of early hormonal therapy.

Am J Med Genet A 2020 Mar 27. Epub 2020 Mar 27.

Division of Neurogenetics and Developmental Pediatrics, Children's National Health System, Washington, District of Columbia, USA.

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http://dx.doi.org/10.1002/ajmg.a.61561DOI Listing
March 2020

Behavioral phenotype of 49,XXXXY syndrome: Presence of anxiety-related symptoms and intact social awareness.

Am J Med Genet A 2020 Feb 21. Epub 2020 Feb 21.

Research Department, The Focus Foundation, Davidsonville, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.61507DOI Listing
February 2020

From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.

Hum Mutat 2020 Jan 15. Epub 2020 Jan 15.

Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1002/humu.23983DOI Listing
January 2020

Hormonal replacement therapy and its potential influence on working memory and competency/adaptive functioning in 47,XXY (Klinefelter syndrome).

Am J Med Genet A 2019 12 2;179(12):2374-2381. Epub 2019 Oct 2.

Department of Neurology, George Washington University, Washington, District of Columbia.

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http://dx.doi.org/10.1002/ajmg.a.61360DOI Listing
December 2019

CNS manifestations in patients with telomere biology disorders.

Neurol Genet 2019 Dec 29;5(6):370. Epub 2019 Oct 29.

Clinical Genetics Branch (S.B., N.G., B.P.A., S.A.S.) and Biostatistics Branch (A.F.B.), Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville; Office of the Clinical Director (M.P.), National Institute of Mental Health, National Institutes of Health, Bethesda, MD; Department of Neurology (A.G.), Children's National Medical Center, Washington, DC; and Department of Radiology and Imaging Sciences (E.H.B.), Clinical Center, National Institutes of Health, Bethesda, MD.

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http://dx.doi.org/10.1212/NXG.0000000000000370DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878838PMC
December 2019

Update On The Clinical Perspectives And Care Of The Child With 47,XXY (Klinefelter Syndrome).

Appl Clin Genet 2019 23;12:191-202. Epub 2019 Oct 23.

Department of Neurology, George Washington University, Washington, DC, USA.

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http://dx.doi.org/10.2147/TACG.S180450DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6815760PMC
October 2019

Early prediction of phenotypic severity in Citrullinemia Type 1.

Ann Clin Transl Neurol 2019 09 30;6(9):1858-1871. Epub 2019 Aug 30.

Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.

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http://dx.doi.org/10.1002/acn3.50886DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6764635PMC
September 2019

The importance of the nuclear background on the phenotypic signature caused by the MELAS m.1630 A>G variant.

Mol Genet Metab Rep 2019 Jun 16;19:100462. Epub 2019 Feb 16.

Department of Anatomy and Cell Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100462DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378903PMC
June 2019

The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic mother.

Mol Genet Metab 2019 04 25;126(4):429-438. Epub 2019 Jan 25.

Department of Anatomy and Cell Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.01.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6773428PMC
April 2019

The incidence of anxiety symptoms in boys with 47,XXY (Klinefelter syndrome) and the possible impact of timing of diagnosis and hormonal replacement therapy.

Am J Med Genet A 2019 03 13;179(3):423-428. Epub 2019 Jan 13.

George Washington University, Department of Pediatrics, Washington, DC.

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http://dx.doi.org/10.1002/ajmg.a.61038DOI Listing
March 2019

Novel metabolic signatures of compound heterozygous variants in a case of early-onset of epileptic encephalopathy.

Clin Case Rep 2018 Dec 25;6(12):2376-2384. Epub 2018 Oct 25.

Department of Anatomy and Regenerative Biology George Washington University School of Medicine and Health Sciences Washington District of Columbia.

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http://dx.doi.org/10.1002/ccr3.1868DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293145PMC
December 2018

The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism.

Mol Genet Metab 2018 11 24;125(3):235-240. Epub 2018 Aug 24.

Center for Neuroscience, Children Neuroscience, Medical System, George Washington University, Washington, DC, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.08.011DOI Listing
November 2018

A Newborn With Hyperlactatemia and Epileptic Encephalopathy.

Semin Pediatr Neurol 2018 07 23;26:104-107. Epub 2017 May 23.

Division of Pediatric Neurology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA.

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http://dx.doi.org/10.1016/j.spen.2017.05.004DOI Listing
July 2018

"Cerebral Palsy" in a Patient With Arginase Deficiency.

Semin Pediatr Neurol 2018 07 1;26:110-114. Epub 2017 Apr 1.

Department of Neurology, Children's National Health System, Washington, DC.

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http://dx.doi.org/10.1016/j.spen.2017.03.016DOI Listing
July 2018

Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.

Mol Genet Metab 2018 06 6;124(2):161-167. Epub 2018 Apr 6.

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, United States; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, United States; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, United States.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183004
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http://dx.doi.org/10.1016/j.ymgme.2018.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5976541PMC
June 2018

Phenotypic spectrum of maternally inherited Leigh Syndrome associated with the m.8993T>G variant.

Mol Genet Metab Rep 2018 Jun 7;15:134. Epub 2018 May 7.

Department of Anatomy and Regenerative Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2018.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047217PMC
June 2018

Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome.

Mol Genet Metab 2018 05 27;124(1):71-81. Epub 2018 Mar 27.

Department of Anatomy and Regenerative Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6016550PMC
May 2018

Prospective longitudinal overnight video-EEG evaluation in Phelan-McDermid Syndrome.

Epilepsy Behav 2018 03 3;80:312-320. Epub 2018 Feb 3.

Pediatrics and Developmental Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.yebeh.2017.11.034DOI Listing
March 2018

Response regarding involvement of the cerebral veins in MELAS syndrome.

Neuroradiology 2017 Oct 11;59(10):947-949. Epub 2017 Aug 11.

Department of Neurology, Children's National Medical Center, Washington, DC, 20010, USA.

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http://dx.doi.org/10.1007/s00234-017-1902-3DOI Listing
October 2017

Black Toenail Sign in MELAS Syndrome.

Pediatr Neurol 2017 Oct 12;75:61-65. Epub 2017 Jul 12.

Department of Neurology, Children's National Medical Center, Washington, District of Columbia.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.06.017DOI Listing
October 2017

Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population.

PLoS One 2016 11;11(8):e0161045. Epub 2016 Aug 11.

Department of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, D.C., United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0161045PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4981345PMC
August 2017

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.

Am J Hum Genet 2017 Aug 20;101(2):206-217. Epub 2017 Jul 20.

Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA; Johannes Gutenberg University, Mainz 55122, Germany; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA; Division of Evolution and Genomic Science, School of Biological Sciences, Manchester Academic Health Science Centre, Manchester M13 9NT, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297173024
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http://dx.doi.org/10.1016/j.ajhg.2017.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5544382PMC
August 2017

The benefits and limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome).

Prenat Diagn 2017 May 17;37(5):497-501. Epub 2017 Apr 17.

Department of Neurodevelopmental Disorders and Neurogenetics, Children's National Medical Center, Washington, DC, USA.

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http://dx.doi.org/10.1002/pd.5044DOI Listing
May 2017

Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

Hum Genet 2017 04 17;136(4):409-420. Epub 2017 Feb 17.

Office of Clinical Director, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive MSC 1851, Building 10, 10-C103, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/s00439-017-1767-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5848494PMC
April 2017

A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.

Genet Med 2017 03 11;19(3):297-305. Epub 2016 Aug 11.

Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2016.102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5303568PMC
March 2017

Reply regarding lesional perfusion abnormalities on arterial spin labeling in Leigh disease.

Pediatr Radiol 2017 01 8;47(1):126-127. Epub 2016 Nov 8.

The George Washington University School of Medicine, Washington, DC, USA.

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http://dx.doi.org/10.1007/s00247-016-3738-0DOI Listing
January 2017

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1.

Diseases 2016 Sep 8;4(3). Epub 2016 Sep 8.

National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.3390/diseases4030029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5456286PMC
September 2016

Lesional perfusion abnormalities in Leigh disease demonstrated by arterial spin labeling correlate with disease activity.

Pediatr Radiol 2016 Aug 4;46(9):1309-16. Epub 2016 Apr 4.

The George Washington University School of Medicine, Washington, DC, USA.

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http://dx.doi.org/10.1007/s00247-016-3616-9DOI Listing
August 2016

Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.

J Inherit Metab Dis 2016 07 23;39(4):573-84. Epub 2016 May 23.

Departments of Pediatrics and Neurology, George Washington University School of Medicine and Health Sciences, Washington, DC, USA.

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http://dx.doi.org/10.1007/s10545-016-9942-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4921309PMC
July 2016

Reduced Functional Connectivity of Default Mode and Set-Maintenance Networks in Ornithine Transcarbamylase Deficiency.

PLoS One 2015 11;10(6):e0129595. Epub 2015 Jun 11.

Center for Functional and Molecular Imaging, Georgetown University, Washington, DC, United States of America; Department of Neurology, Georgetown University Medical Center, Washington, DC, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0129595PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4466251PMC
May 2016

Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech.

Am J Med Genet A 2016 May 1;170A(5):1312-6. Epub 2016 Feb 1.

Department of Neurology, Children's National Medical Center, Washington, District of Columbia.

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http://dx.doi.org/10.1002/ajmg.a.37575DOI Listing
May 2016

MR Imaging Findings in Xp21.2 Duplication Syndrome.

J Radiol Case Rep 2016 May 31;10(5):9-14. Epub 2016 May 31.

Department of Neurology, Children's National Medical Center, Washington, D.C., USA.

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http://dx.doi.org/10.3941/jrcr.v10i5.2563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065289PMC
May 2016

Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXX.

Am J Med Genet A 2015 Oct 18;167A(10):2251-9. Epub 2015 Jun 18.

Neurodevelopmental Disabilities and Neurogenetics, Children's National Medical Center, Washington DC.

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http://dx.doi.org/10.1002/ajmg.a.37198DOI Listing
October 2015

Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).

Am J Med Genet A 2015 Sep 10;167A(9):2075-84. Epub 2015 May 10.

Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.37127DOI Listing
September 2015

Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency.

Mol Genet Metab 2014 Sep-Oct;113(1-2):136-41. Epub 2014 May 20.

Department of Neurogenetics, Children's National Medical Center, Washington D.C., USA; Center for Functional and Molecular Imaging, Georgetown University, Washington D.C., USA; George Washington University of Health Sciences, Washington D.C., USA.

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http://dx.doi.org/10.1016/j.ymgme.2014.05.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4458385PMC
June 2015

Advances in urea cycle neuroimaging: Proceedings from the 4th International Symposium on urea cycle disorders, Barcelona, Spain, September 2013.

Mol Genet Metab 2014 Sep-Oct;113(1-2):118-26. Epub 2014 May 20.

Center for Functional and Molecular Imaging, Georgetown University, USA; Children's National Medical, USA; George Washington University, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177962PMC
June 2015

Structural brain defects.

Clin Perinatol 2015 Jun 4;42(2):337-61, ix. Epub 2015 Apr 4.

Department of Neurology, Children's National Medical Center, 111 Michigan Avenue Northwest, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.clp.2015.02.007DOI Listing
June 2015

Identification of infants at risk for autism spectrum disorder and developmental language delay prior to 12 months.

Autism 2015 Apr 18;19(3):327-37. Epub 2014 Feb 18.

George Washington University of the Health Sciences, USA Children's National Medical Center, USA.

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http://dx.doi.org/10.1177/1362361314521329DOI Listing
April 2015

Corpus callosum diffusion tensor imaging and volume measures are associated with disease severity in pediatric Niemann-Pick disease type C1.

Pediatr Neurol 2014 Nov 28;51(5):669-674.e5. Epub 2014 Jul 28.

Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.07.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4696056PMC
November 2014

Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation.

J Child Neurol 2014 Sep 17;29(9):1249-56. Epub 2014 Jul 17.

Children's National Medical Center, The George Washington University School of Medicine, Washington, DC, USA

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http://dx.doi.org/10.1177/0883073814538511DOI Listing
September 2014

Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study.

Lancet Neurol 2014 Aug 2;13(8):777-87. Epub 2014 Jul 2.

Program on Developmental Endocrinology and Genetics, Eunice Kennedy-Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(14)70142-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4139936PMC
August 2014

Variations in EEG discharges predict ADHD severity within individual Smith-Lemli-Opitz patients.

Neurology 2014 Jul 11;83(2):151-9. Epub 2014 Jun 11.

From the EEG Section, NINDS (J.M.S.), Medical Genetics Branch, National Human Genome Research Institute (S.E.S., A.L.G.), and Program on Developmental Endocrinology and Genetics, NICHD (C.A.W.), NIH, Bethesda; Departments of Child and Adolescent Psychiatry (D.C.L., E.T.) and Neurology and Developmental Medicine (W.H.T., J.B.E.), Kennedy Krieger Institute, Baltimore; Departments of Neurology (W.H.T., J.B.E.) and Psychiatry and Behavioral Sciences (E.T.), Johns Hopkins University School of Medicine, Baltimore, MD; Department of Pediatric Neurology (W.H.T., F.D.P.), Penn State Hershey Children's Hospital, Hershey, PA; Department of Biostatistics (B.S.C.), Johns Hopkins University School of Public Health, Baltimore, MD; Department of Neurology (A.L.G.), Children's National Medical Center; and George Washington University of the Health Sciences (A.L.G.), Washington, DC.

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http://dx.doi.org/10.1212/WNL.0000000000000565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4117167PMC
July 2014

The urea cycle disorders.

Semin Neurol 2014 Jul 5;34(3):341-9. Epub 2014 Sep 5.

Department of Neurology, Children's National Medical Center, Washington, District of Columbia.

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http://dx.doi.org/10.1055/s-0034-1386771DOI Listing
July 2014

International telemedicine consultations for neurodevelopmental disabilities.

Telemed J E Health 2014 Jun 24;20(6):559-62. Epub 2014 Mar 24.

1 Center for Neuroscience and Behavioral Health, Children's National Medical Center , Washington, D.C.

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https://www.liebertpub.com/doi/10.1089/tmj.2013.0275
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http://dx.doi.org/10.1089/tmj.2013.0275DOI Listing
June 2014

Treatment of mitochondrial disorders.

Curr Treat Options Neurol 2014 Jun;16(6):292

Department of Neurology, Cleveland Clinic, Cleveland, OH, USA,

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http://dx.doi.org/10.1007/s11940-014-0292-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067597PMC
June 2014

Expanding the phenotypic profile of boys with 47, XXY: the impact of familial learning disabilities.

Am J Med Genet A 2014 Jun 8;164A(6):1464-9. Epub 2014 Apr 8.

George Washington University of the Health Sciences, Washington, District of Columbia; Neurodevelopmental Diagnostic Center for Young Children, Davidsonville, Maryland; The Focus Foundation, Davidsonville, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.36483
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36483DOI Listing
June 2014

Neuroimaging of lipid storage disorders.

Dev Disabil Res Rev 2013 ;17(3):269-82

Department of Pediatrics, Children's National Medical Center and the George Washington University of the Health Sciences, Washington, District of Columbia, USA.

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http://dx.doi.org/10.1002/ddrr.1120DOI Listing
March 2014

Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome.

Am J Med Genet A 2013 Oct 5;161A(10):2407-19. Epub 2013 Aug 5.

Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.36096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3787998PMC
October 2013

Neurodevelopmental disorders and genetic testing: current approaches and future advances.

Ann Neurol 2013 Aug;74(2):164-70

Departments of Neurology and Pediatrics and Institute of Human Genetics, University of California, San Francisco, San Francisco, CA.

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http://dx.doi.org/10.1002/ana.23950DOI Listing
August 2013

Urea cycle defects and hyperammonemia: effects on functional imaging.

Metab Brain Dis 2013 Jun 13;28(2):269-75. Epub 2012 Nov 13.

Department of Neurology, Children's National Medical Center, George Washington University of Health Sciences, 111 Michigan Avenue, NW, Washington, DC 20010, USA.

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http://dx.doi.org/10.1007/s11011-012-9348-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3594356PMC
June 2013

Neuroimaging in mitochondrial disorders.

Authors:
Andrea L Gropman

Neurotherapeutics 2013 Apr;10(2):273-85

Department of Pediatrics and Neurology, Children's National Medical Center and the George Washington University of the Health Sciences, Washington, DC 20010, USA.

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http://dx.doi.org/10.1007/s13311-012-0161-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625392PMC
April 2013

Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age.

Am J Med Genet A 2013 Mar 23;161A(3):501-8. Epub 2013 Jan 23.

George Washington University of the Health Sciences, Washington, District of Columbia, USA.

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http://dx.doi.org/10.1002/ajmg.a.35769DOI Listing
March 2013

Developmental and psychiatric presentations of inherited metabolic disorders.

Pediatr Neurol 2013 Mar;48(3):179-87

Department of Neurology, Children's National Medical Center and George Washington University of the Health Sciences, Washington, DC 20010, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S08878994120040
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http://dx.doi.org/10.1016/j.pediatrneurol.2012.08.012DOI Listing
March 2013

Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations.

Am J Med Genet C Semin Med Genet 2013 Feb 18;163C(1):35-43. Epub 2013 Jan 18.

Division of Neurogenetics and Neurodevelopmental Pediatrics, Children's National Medical Center, Washington, DC 2001, USA.

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http://dx.doi.org/10.1002/ajmg.c.31352DOI Listing
February 2013

Introduction: past, present, and future care of individuals with XXY.

Am J Med Genet C Semin Med Genet 2013 Feb;163C(1):1-2

George Washington University School of Medicine and Health Sciences, USA.

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http://dx.doi.org/10.1002/ajmg.c.31355DOI Listing
February 2013

Is it all the X: familial learning dysfunction and the impact of behavioral aspects of the phenotypic presentation of XXY?

Am J Med Genet C Semin Med Genet 2013 Feb;163C(1):27-34

Neurodevelopmental Diagnostic Center for Young Children, Crofton, MD 21114, USA.

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http://dx.doi.org/10.1002/ajmg.c.31353DOI Listing
February 2013

Musculoskeletal anomalies in a large cohort of boys with 49, XXXXY.

Am J Med Genet C Semin Med Genet 2013 Feb;163C(1):44-9

Children's National Medical Center, Washington D.C., USA.

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http://dx.doi.org/10.1002/ajmg.c.31354DOI Listing
February 2013

Patterns of brain injury in inborn errors of metabolism.

Authors:
Andrea L Gropman

Semin Pediatr Neurol 2012 Dec;19(4):203-10

Departments of Pediatrics and Neurology, Children's National Medical Center and the George Washington University of the Health Sciences, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.spen.2012.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3758694PMC
December 2012

Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis.

Pediatr Neurol 2012 Nov;47(5):355-61

Clinical Research Training Program, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4133743PMC
November 2012

Neurocognitive phenotype of isolated methylmalonic acidemia.

Pediatrics 2012 Jun 21;129(6):e1541-51. Epub 2012 May 21.

National Institute of Mental Health, National Institutes of Health, Building 49 Room 4A18 Bethesda, MD 20892-4472, USA.

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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2011-1715DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3362903PMC
June 2012

The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria.

Am J Hum Genet 2012 Feb 2;90(2):295-300. Epub 2012 Feb 2.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.ajhg.2011.11.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276655PMC
February 2012

New frontiers in neuroimaging applications to inborn errors of metabolism.

Mol Genet Metab 2011 Nov 30;104(3):195-205. Epub 2011 Jun 30.

Department of Neurology, Children's National Medical Center, Washington, D.C. 20010, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.06.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3758691PMC
November 2011

Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome.

Acta Paediatr 2011 Jun 20;100(6):861-5. Epub 2011 Apr 20.

George Washington University of the Health Sciences, Washington, DC, USA.

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http://dx.doi.org/10.1111/j.1651-2227.2011.02252.xDOI Listing
June 2011

Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation: importance of DNA collection for post-mortem diagnosis.

Authors:
Andrea L Gropman

Dev Med Child Neurol 2011 Jun 19;53(6):487-8. Epub 2011 Apr 19.

Department of Neurology, Children's National Medical Center and the George Washington University of Health Sciences, Washington, DC, USA.

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http://dx.doi.org/10.1111/j.1469-8749.2011.03920.xDOI Listing
June 2011

Clinical utility gene card for: Holoprosencephaly.

Eur J Hum Genet 2011 Jan 21;19(1):preceeding 118-20. Epub 2010 Jul 21.

Génétique Moléculaire, UMR 6061 CNRS IGDR, CHU Pontchaillou,University of Rennes, Rennes, France.

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http://dx.doi.org/10.1038/ejhg.2010.110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3039493PMC
January 2011

The use of neuroimaging in the diagnosis of mitochondrial disease.

Dev Disabil Res Rev 2010 ;16(2):129-35

Division of Radiology, Seattle Children's Hospital/University of Washington, 4800 Sand Point Way NE, Seattle, WA 98105, USA.

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http://dx.doi.org/10.1002/ddrr.103DOI Listing
January 2011

Epigenetics, copy number variation, and other molecular mechanisms underlying neurodevelopmental disabilities: new insights and diagnostic approaches.

J Dev Behav Pediatr 2010 Sep;31(7):582-91

Department of Neurology, Children's National Medical Center, Washington, DC 20010, USA.

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http://dx.doi.org/10.1097/DBP.0b013e3181ee384eDOI Listing
September 2010

Brain imaging in urea cycle disorders.

Authors:
Andrea Gropman

Mol Genet Metab 2010 13;100 Suppl 1:S20-30. Epub 2010 Feb 13.

Department of Neurology, Children's National Medical Center, Center for Neuroscience and Behavioral Medicine, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.01.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3258295PMC
July 2010

Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndrome.

Am J Med Genet A 2010 Jun;152A(6):1523-30

Department of Neurology, Children's National Medical Center, Washington, District of Columbia 20010, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33307
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http://dx.doi.org/10.1002/ajmg.a.33307DOI Listing
June 2010