Jennifer N Partlow

Jennifer N Partlow

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Jennifer N Partlow

Jennifer N Partlow

Publications by authors named "Jennifer N Partlow"

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Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.

Eur J Med Genet 2017 May 27;60(5):245-249. Epub 2017 Feb 27.

Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Qatar. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5569911PMC
May 2017

Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.

Proc Natl Acad Sci U S A 2016 09 6;113(38):E5598-607. Epub 2016 Sep 6.

Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, Providence, RI 02912; Institute for Brain Science, Brown University, Providence, RI 02912; Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital and Department of Psychiatry and Human Behavior, Alpert Medical School of Brown University, East Providence, RI 02915;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035873PMC
http://dx.doi.org/10.1073/pnas.1609221113DOI Listing
September 2016

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.

Am J Hum Genet 2015 May 9;96(5):709-19. Epub 2015 Apr 9.

Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Pediatric Neurology Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570282PMC
May 2015

Loss of PCLO function underlies pontocerebellar hypoplasia type III.

Neurology 2015 Apr 1;84(17):1745-50. Epub 2015 Apr 1.

From Monogenic Molecular Genetics (M.Y.A., B.A.C., E.L.B., A.H.C.), University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter; Centre for Human Genetics (M.Y.A., B.A.C., E.L.B., M.A.P., A.H.C.), St. George's, University of London, UK; National Genetic Center (A.R.), Ministry of Health, Muscat, Sultanate of Oman; Division of Genetics and Genomics, Department of Medicine (K.S.-A., J.N.P., R.S.H., G.D.E., S.S., K.M., C.A.W., G.H.M.), Manton Center for Orphan Disease Research (K.S.-A., J.N.P., R.S.H., G.D.E., S.S., K.M., C.A.W., G.H.M.), and Howard Hughes Medical Institute (J.N.P., R.S.H., G.D.E., S.S., C.A.W.), Boston Children's Hospital; Departments of Pediatrics (K.S.-A., K.M., C.A.W., G.H.M.) and Neurology (C.A.W.), and Program in Biological and Biomedical Sciences (G.D.E.), Harvard Medical School, Boston; Program in Medical and Population Genetics (K.S.-A., K.M., C.A.W.), Broad Institute of MIT and Harvard University, Cambridge, MA; Department of Biology (A.A.-K.), College of Science, Sultan Qaboos University, Sultanate of Oman; Wellcome Trust Sanger Institute (S.A.-T., M.E.H.), Wellcome Trust Genome Campus, Hinxton, Cambridge, UK; Department of Neurology (A.Y.A.-M.), Atkinson Morley Wing, St. George's Hospital, London, UK; and Pediatric Neurology Unit (G.H.M.), Department of Neurology, Massachusetts General Hospital, Boston, MA.

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http://www.walshlab.org/uploads/publications/266/2015neurolo
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http://www.neurology.org/content/84/17/1745.full.pdf
Web Search
http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000152
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http://dx.doi.org/10.1212/WNL.0000000000001523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424132PMC
April 2015

Katanin p80 regulates human cortical development by limiting centriole and cilia number.

Neuron 2014 Dec;84(6):1240-57

Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Program in Neuroscience, Harvard Medical School, Boston, MA 02115, USA; Harvard MD-PhD MSTP Program, Harvard Medical School, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2014.12.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4485387PMC
December 2014

Somatic mutations in cerebral cortical malformations.

N Engl J Med 2014 Aug;371(8):733-43

From the Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Howard Hughes Medical Institute (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W.), and the Departments of Laboratory Medicine (J.W., Y.S., B.L.W.) and Neurology (M.S., A.P.), Boston Children's Hospital, the Departments of Pediatrics (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W.), Neurology (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W., M.S., A.P.), and Pathology (Y.S., B.L.W.), Harvard Medical School, the Department of Neurology, Beth Israel Deaconess Medical Center (B.S.C.), and the Department of Neurology, Massachusetts General Hospital (T.W.Y.) - all in Boston; the Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore (S.S.J.); the Department of Genome Sciences, University of Washington, Seattle (M.K., M.B., D.A.N., J.S.); the Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai (J.W., Y.S.); the Division of Neurology, Department of Pediatrics, Hacettepe University School of Medicine, Sihhiye, Ankara, Turkey (M.T.); the Neurogenetics Unit, Montreal Neurological Hospital and Institute, Department of Neurology and Neurosurgery (D.A., E.A.) and Department of Human Genetics (E.A.), McGill University, Montreal; the Department of Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels (B.D.); the Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence, Italy (E.P., R.G.); the Department of Medicine, University of Melbourne, Austin Health, Heidelberg (I.E.S., S.F.B.), Department of Paediatrics, Royal Children's Hospital, University of Melbourne, and the Florey Institute of Neuroscience and Mental Health, Melbourne (I.E.S.), and the Department of Neurology, Royal Children's Hospital, Murdoch Children'

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http://dx.doi.org/10.1056/NEJMoa1314432DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4274952PMC
August 2014

METTL23, a transcriptional partner of GABPA, is essential for human cognition.

Hum Mol Genet 2014 Jul 5;23(13):3456-66. Epub 2014 Feb 5.

Division of Genetics and Genomics, Department of Medicine Manton Center for Orphan Disease Research and Department of Pediatrics Pediatric Neurology Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA

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http://dx.doi.org/10.1093/hmg/ddu054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049305PMC
July 2014

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.

Am J Hum Genet 2014 Apr 20;94(4):547-58. Epub 2014 Mar 20.

Department of Pediatric Neurology, Centre de Reference Epilepsies Rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France; Institut National de la Santé et de la Recherche Médicale U1129, Université Paris Descartes, 75006 Paris, France; Institut National de la Santé et de la Recherche Médicale U1129, NeuroSpin, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, 91191 Gif-sur-Yvette, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297140010
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http://dx.doi.org/10.1016/j.ajhg.2014.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3980424PMC
April 2014

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.

Neurology 2013 Oct 27;81(16):1378-86. Epub 2013 Sep 27.

From the Division of Genetics (L.B.H., A.-T.N.L., R.S.H., J.N.P., M.A.-S., J.M.S., G.H.M.) and Division of Developmental Medicine (R.N.), Department of Medicine, and Howard Hughes Medical Institute (J.N.P.), Boston Children's Hospital, Boston, MA; Division of Child Neurology (A.M.), Department of Pediatrics, Jordan University Hospital, Amman, Jordan; Department of Anatomy (K.K., M.W.), Hokkaido University Graduate School of Medicine, Sapporo, Japan; Department of Physiology (W.K., M.Y.), School of Medicine, Keio University, Tokyo, Japan; Department of Pediatrics (E.L.-M., N.C.), New York Medical College, Valhalla, NY; Department of Pediatrics (M.A.-S.), Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates; Department of Pediatrics (R.N., J.M.S., G.H.M.), Harvard Medical School, Boston, MA; Department of Radiology and Biomedical Imaging (A.J.B.), University of California, San Francisco; and Pediatric Neurology Unit (G.H.M.), Department of Neurology, Massachusetts General Hospital, Boston.

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http://dx.doi.org/10.1212/WNL.0b013e3182a841a3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3806907PMC
October 2013

Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort.

Am J Med Genet A 2010 Nov;152A(11):2736-42

Department of Neurology, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1002/ajmg.a.33684DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2965295PMC
November 2010