Pankaj B Agrawal

Pankaj B Agrawal

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Pankaj B Agrawal

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Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome.

J Pediatr 2019 Oct 22;213:235-240. Epub 2019 Jun 22.

Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.

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http://dx.doi.org/10.1016/j.jpeds.2019.05.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6765408PMC
October 2019

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.

N Engl J Med 2019 Oct 9. Epub 2019 Oct 9.

From the Divisions of Genetics and Genomics (J.K., C.H., E.A.L., A.S., J.V., R.L.D., J.C., P.B.A., A.H.B., S.E.W., O.B., T.W.Y.), Newborn Medicine (P.B.A., P.E.G.), and Neuroradiology (P.E.G.), the Departments of Neurology (C.M.E.A., D.K.U., A. Poduri), Anesthesiology, Critical Care and Pain Medicine (L.C., C.B.B.), Physical and Occupational Therapy (A. Pasternak, E.R.B., K.A.P.), and Pharmacy (S.C., A. Patterson), the Institutional Centers for Clinical and Translational Research (A.K., B.B., L.W.), and the Manton Center for Orphan Disease Research (C.A.G., P.B.A., A.H.B.), Boston Children's Hospital (A.K., A.T., M.A., L.M.P., K.D., B.B., L.W., B.D.G., B.L.R., A.B.), the Department of Biomedical Informatics (J.K., P.J.P.), Harvard Medical School (J.K., C.M.E.A., E.A.L., L.C., B.D.G., B.L.R., P.B.A., A.H.B., P.E.G., D.K.U., S.E.W., P.J.P., A. Patterson, A.B., O.B., C.B.B., T.W.Y.), and the Gene Therapy Program (A.B.), Boston Children's and Dana-Farber Cancer and Blood Disorders Center (A.K., B.B., L.W.), Boston, Charles River Laboratories, Wilmington (L.E.B.), and Broad Institute of MIT and Harvard (E.A.L., O.B., T.W.Y.), Cambridge - all in Massachusetts; Charles River Laboratories, Montreal (J.D.); University of Colorado School of Medicine, Aurora (A.L.); Pendergast Consulting, Washington, DC (M.K.P.); Goldkind Consulting, Potomac, MD (S.F.G.); the Department of Neurology Feinberg School of Medicine, Northwestern University, Chicago (N.R.B., K.F., I.S., J.R.M.); the Department of Neurology, University of Rochester Medical Center, Rochester, NY (E.F.A.); Brain Hz Consulting, Del Mar, CA (C.R.); Tyndall Consulting, Wake Forest, NC (K.T.); and Brammer Bio, Alachua, FL (R.O.S.).

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http://dx.doi.org/10.1056/NEJMoa1813279DOI Listing
October 2019

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.

Eur J Hum Genet 2019 Sep 12;27(9):1398-1405. Epub 2019 Apr 12.

Division of Newborn Medicine and Neonatal Genomics Program, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1038/s41431-019-0401-xDOI Listing
September 2019

The impact of the Orphan Drug Act on Food and Drug Administration-approved therapies for rare skin diseases and skin-related cancers.

J Am Acad Dermatol 2019 Sep 16;81(3):867-877. Epub 2019 May 16.

Department of Population Medicine, Harvard Medical School and the Harvard Pilgrim Health Care Institute, Boston, Massachusetts; Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1016/j.jaad.2019.05.025DOI Listing
September 2019

Infant mortality: the contribution of genetic disorders.

J Perinatol 2019 Aug 8. Epub 2019 Aug 8.

Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1038/s41372-019-0451-5DOI Listing
August 2019

A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus.

Am J Med Genet A 2019 Jul 22;179(7):1299-1303. Epub 2019 Apr 22.

Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States.

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http://dx.doi.org/10.1002/ajmg.a.61150DOI Listing
July 2019

Etiology and Outcome of non-immune Hydrops Fetalis in Southern China: report of 1004 cases.

Sci Rep 2019 Jul 24;9(1):10726. Epub 2019 Jul 24.

Medical Science Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, 530003, China.

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http://dx.doi.org/10.1038/s41598-019-47050-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6656761PMC
July 2019

The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution.

Dev Cell 2019 Apr 28;49(1):10-29. Epub 2019 Mar 28.

Department of Biomedical Informatics, University of Cincinnati College of Medicine, and Cincinnati Children's Hospital Medical Center, Division of Biomedical Informatics, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1016/j.devcel.2019.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6616346PMC
April 2019

Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations.

Muscle Nerve 2019 03 28;59(3):357-362. Epub 2018 Nov 28.

Division of Newborn Medicine, Division of Genetics and Genomics, and The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts, 02115, USA.

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http://doi.wiley.com/10.1002/mus.26378
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http://dx.doi.org/10.1002/mus.26378DOI Listing
March 2019

Expanding the phenotypic spectrum associated with OPHN1 variants.

Eur J Med Genet 2019 Feb 28;62(2):137-143. Epub 2018 Jun 28.

Division of Genetics & Genomics, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.06.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310103PMC
February 2019

Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformations.

Clin Chim Acta 2019 Feb 30;489:103-108. Epub 2018 Nov 30.

Department of Genetic Metabolism, Children's Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, People's Republic of China. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2018.11.035DOI Listing
February 2019

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.

Am J Hum Genet 2019 Jan;104(1):76-93

Harvard Medical School, Boston, MA 02115, USA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323417PMC
January 2019

Novel mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.

Mol Genet Metab Rep 2018 Sep 11;16:15-19. Epub 2018 Jun 11.

Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, People's Republic of China.

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http://dx.doi.org/10.1016/j.ymgmr.2018.05.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6031868PMC
September 2018

Atypical presentations associated with non-polyalanine repeat PHOX2B mutations.

Am J Med Genet A 2018 07 28;176(7):1627-1631. Epub 2018 Apr 28.

Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.38720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117218PMC
July 2018

Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations.

Am J Hum Genet 2018 07 14;103(1):131-137. Epub 2018 Jun 14.

Division of Newborn Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.05.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6035368PMC
July 2018

Pressure Overload in Mice With Haploinsufficiency of Striated Preferentially Expressed Gene Leads to Decompensated Heart Failure.

Front Physiol 2018 10;9:863. Epub 2018 Jul 10.

Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States.

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http://dx.doi.org/10.3389/fphys.2018.00863DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6048438PMC
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

Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency.

Mol Genet Metab 2018 03 20;123(3):317-325. Epub 2017 Dec 20.

Department of Biochemistry & Molecular Biology, Genetics Institute, University of Florida College of Medicine, 1200 Newell Drive, FL 32608, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.12.433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832599PMC
March 2018

Three-generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome.

Am J Med Genet A 2018 03 19;176(3):560-569. Epub 2018 Jan 19.

Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.38590DOI Listing
March 2018

Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene.

J Autoimmun 2018 01 21;86:116-119. Epub 2017 Sep 21.

Genetics and Genomics, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA, United States; Division of Newborn Medicine, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA, United States; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States.

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http://dx.doi.org/10.1016/j.jaut.2017.09.003DOI Listing
January 2018

Long-Gap Esophageal Atresia Is a Unique Entity within the Esophageal Atresia Defect Spectrum.

Neonatology 2017 19;111(2):140-144. Epub 2016 Oct 19.

Department of Pediatric Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Mass., USA.

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http://dx.doi.org/10.1159/000449241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5290190PMC
December 2017

Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.

Pediatr Neurol 2017 Nov 3;76:47-53. Epub 2017 Jun 3.

Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.05.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6008785PMC
November 2017

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

A curated gene list for reporting results of newborn genomic sequencing.

Genet Med 2017 07 12;19(7):809-818. Epub 2017 Jan 12.

Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2016.193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5507765PMC
July 2017

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

Muscle Nerve 2017 05 3;55(5):761-765. Epub 2017 Feb 3.

Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, 300 Longwood Avenue, Harvard Medical School, Boston, Massachusetts, 02115, USA.

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http://dx.doi.org/10.1002/mus.25416DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5366284PMC
May 2017

SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures.

Pediatr Neurol 2016 11 28;64:77-79. Epub 2016 Jul 28.

Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.07.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223550PMC
November 2016

Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants.

JIMD Rep 2017 18;35:7-15. Epub 2016 Nov 18.

Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Hunnewell 4, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1007/8904_2016_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5585110PMC
November 2016

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.

Cold Spring Harb Mol Case Stud 2016 Sep;2(5):a001008

Developmental Neuropsychiatry Research Program, Department of Psychiatry, Boston Children's Hospital, Boston, Massachusetts 02115, USA;; Department of Psychiatry, Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1101/mcs.a001008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5002930PMC
September 2016

Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia.

Cold Spring Harb Mol Case Stud 2016 Jul;2(4):a000885

Division of Hematology/Oncology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA;; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts 02115, USA;; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA;

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http://dx.doi.org/10.1101/mcs.a000885DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4990811PMC
July 2016

Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.

Cold Spring Harb Mol Case Stud 2016 May;2(3):a000786

Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA;; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA;; Gene Discovery Core, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA;

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http://dx.doi.org/10.1101/mcs.a000786DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853520PMC
May 2016

Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration.

PLoS One 2015 13;10(4):e0123829. Epub 2015 Apr 13.

Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America; Division of Genetics & Genomics, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0123829PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4395318PMC
February 2016

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.

Neurogenetics 2016 Jan 22;17(1):11-6. Epub 2015 Sep 22.

Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1007/s10048-015-0460-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4911217PMC
January 2016

Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

J Clin Endocrinol Metab 2015 May 17;100(5):1723-30. Epub 2015 Mar 17.

Division of Endocrinology (V.V.T., J.N.H.), Newborn Medicine (K.M.E., P.B.A.), and Genetics and Genomics (M.C.T., C.A.B., L.C., A.H.B., J.P., P.B.A.), Department of Medicine, and Gene Discovery Core (M.C.T., C.A.B., L.C., A.H.B., J.P., P.B.A.), The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115; Genetics and Metabolism (P.M.J.), Phoenix Children's Hospital, Phoenix, Arizona 85006; and Department of Molecular and Human Genetics (S.H.E.), Baylor College of Medicine, Houston, Texas 77030.

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http://dx.doi.org/10.1210/jc.2014-4215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422892PMC
May 2015

Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.

JAMA Neurol 2014 Nov;71(11):1413-20

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts3Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1001/jamaneurol.2014.1432DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4227917PMC
November 2014

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.

Eur J Hum Genet 2014 Oct 19;22(10):1229-32. Epub 2014 Feb 19.

1] Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA [2] Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA [3] The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1038/ejhg.2014.8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169545PMC
October 2014

SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.

Am J Hum Genet 2014 Aug 31;95(2):218-26. Epub 2014 Jul 31.

Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129406PMC
August 2014

A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome.

Neonatology 2013 22;104(1):1-5. Epub 2013 Feb 22.

Department of Women and Newborns, Intermountain Healthcare,University of Utah School of Medicine, Salt Lake City, Utah 84403, USA.

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http://dx.doi.org/10.1159/000346375DOI Listing
January 2014

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.

Eur J Med Genet 2013 Dec 28;56(12):678-82. Epub 2013 Oct 28.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3902017PMC
December 2013

Stimulating erythropoiesis in neonates.

Am J Hematol 2013 Nov 19;88(11):930-1. Epub 2013 Sep 19.

Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts; Broad Institute, Cambridge, Massachusetts.

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http://dx.doi.org/10.1002/ajh.23573DOI Listing
November 2013

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

Neurology 2013 Oct 23;81(14):1205-14. Epub 2013 Aug 23.

From the Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research (O.C.-B., P.B.A., K.S.-A., E.T.D., L.C.S., K.M., A.H.B.), and Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Physiology and Sarver Molecular Cardiovascular Research Program (C.H., H.G.), University of Arizona, Tucson; Center for Computational Molecular Biology and Department of Molecular and Cellular Biology and Biochemistry (R.S., W.G.F.), Brown University, Providence, RI; Department of Translational Medicine (N.V., J.L.), IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg, Illkirch, France; Departments of Pediatrics and Neurology and Neurotherapeutics (S.T.I.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (P.B.S.), University of California, Los Angeles; Division of Human Genetics (N.S.), Department of Pediatrics, Rhode Island Hospital, Providence; Department of Pediatrics, Division of Pediatric Pathology (J.M.D.), and Department of Pathology and Laboratory Medicine (M.W.L), Medical College of Wisconsin, Milwaukee; Hasbro Children's Hospital (J.M.D.), and Center for Biomedical Engineering (W.G.F.), Brown University, Providence, RI.

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http://dx.doi.org/10.1212/WNL.0b013e3182a6ca62DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3795603PMC
October 2013

Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings.

Epilepsia 2013 May 28;54(5):e81-5. Epub 2013 Mar 28.

Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1111/epi.12137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3640694PMC
May 2013

Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance.

Hum Mol Genet 2012 May 17;21(10):2341-56. Epub 2012 Feb 17.

Genomics Program and Division of Genetics, The Manton Center for Orphan Disease Research, Boston, MA 02115, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335316PMC
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Novel CHD7 and FBN1 mutations in an infant with multiple congenital anamolies.

Indian J Pediatr 2010 Feb 11;77(2):208-9. Epub 2009 Dec 11.

Division of Newborn Medicine, Department of Medicine, Children's, Hospital, Boston, MA, USA.

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Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.

Neuromuscul Disord 2007 Jul 29;17(7):562-8. Epub 2007 May 29.

Department of Pathology, Division of Neuropathology, Children's Hospital Boston and Brigham, 300 Longwood Avenue, Boston, MA 02115, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2043149PMC
July 2007