Robert J Desnick

Robert J Desnick

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Robert J Desnick

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Design and validation of an open-source modular Microplate Photoirradiation System for high-throughput photobiology experiments.

PLoS One 2018 5;13(10):e0203597. Epub 2018 Oct 5.

Department of Cell, Developmental and Regenerative Biology, Black Family Stem Cell Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029 United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0203597PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6173374PMC
March 2019

Sex differences in vascular reactivity in mesenteric arteries from a mouse model of acute intermittent porphyria.

Mol Genet Metab 2019 Jan 7. Epub 2019 Jan 7.

Section on Gastroenterology & Hepatology, Wake Forest University/NC Baptist Medical Center, Winston-Salem, NC, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183058
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http://dx.doi.org/10.1016/j.ymgme.2019.01.005DOI Listing
January 2019

Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants.

Mol Med 2019 01 24;25(1). Epub 2019 Jan 24.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai New York, New York, 10029, USA.

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http://dx.doi.org/10.1186/s10020-019-0070-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344999PMC
January 2019

Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detection.

Pharmacogenomics 2019 Jan 6;20(1):9-20. Epub 2018 Dec 6.

Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

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http://dx.doi.org/10.2217/pgs-2018-0135DOI Listing
January 2019

Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.

Mol Genet Metab 2019 Jan 18. Epub 2019 Jan 18.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.01.007DOI Listing
January 2019

Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.

J Inherit Metab Dis 2019 Jan;42(1):186-194

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue Room 14-34, New York, NY 10029, USA.

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http://dx.doi.org/10.1002/jimd.12040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6162174PMC
January 2019

Characterization of the hepatic transcriptome following phenobarbital induction in mice with AIP.

Mol Genet Metab 2019 Jan 6. Epub 2019 Jan 6.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183048
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http://dx.doi.org/10.1016/j.ymgme.2018.12.010DOI Listing
January 2019

Congenital erythropoietic porphyria: Recent advances.

Mol Genet Metab 2018 Dec 27. Epub 2018 Dec 27.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.12.008DOI Listing
December 2018

Long-term Outcomes of Kidney Transplantation in Fabry Disease.

Transplantation 2018 Nov;102(11):1924-1933

Department of Internal Medicine, University Hospital Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1097/TP.0000000000002252DOI Listing
November 2018

Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.

Mol Genet Metab 2018 Nov 28. Epub 2018 Nov 28.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.11.013DOI Listing
November 2018

Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.

Mol Genet Metab 2018 Nov 30. Epub 2018 Nov 30.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.11.012DOI Listing
November 2018

Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.

Mol Genet Metab 2018 Oct 26. Epub 2018 Oct 26.

Icahn School of Medicine at Mount Sinai, Department of Genetics and Genomic Sciences, New York, NY 10029, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183048
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http://dx.doi.org/10.1016/j.ymgme.2018.10.008DOI Listing
October 2018

Response to "Letter to the Editor by Drs Block and Razani".

J Clin Lipidol 2016 Sep-Oct;10(5):1281-2. Epub 2016 Jul 25.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1016/j.jacl.2016.07.006DOI Listing
August 2018

Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.

Mol Genet Metab 2018 Aug 31. Epub 2018 Aug 31.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183048
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http://dx.doi.org/10.1016/j.ymgme.2018.08.015DOI Listing
August 2018

Multi-ethnic SULT1A1 copy number profiling with multiplex ligation-dependent probe amplification.

Pharmacogenomics 2018 06 23;19(9):761-770. Epub 2018 May 23.

Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

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http://dx.doi.org/10.2217/pgs-2018-0047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6021911PMC
June 2018

Fabry Disease: prevalence of affected males and heterozygotes with pathogenic mutations identified by screening renal, cardiac and stroke clinics, 1995-2017.

J Med Genet 2018 Apr 12;55(4):261-268. Epub 2018 Jan 12.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2017-105080
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http://dx.doi.org/10.1136/jmedgenet-2017-105080DOI Listing
April 2018

Human hydroxymethylbilane synthase: Molecular dynamics of the pyrrole chain elongation identifies step-specific residues that cause AIP.

Proc Natl Acad Sci U S A 2018 04 9;115(17):E4071-E4080. Epub 2018 Apr 9.

Life Sciences Division, TCS Innovation Labs-Hyderabad, Tata Consultancy Services Limited, Hyderabad 500081, India;

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http://dx.doi.org/10.1073/pnas.1719267115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5924904PMC
April 2018

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.

J Inherit Metab Dis 2018 03 15;41(2):209-219. Epub 2017 Nov 15.

Neurological Unit, St. Bassiano Hospital, Via dei Lotti, 40, 36061, Bassano del Grappa, Italy.

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http://dx.doi.org/10.1007/s10545-017-0098-3DOI Listing
March 2018

Parkinson's disease prevalence in Fabry disease: A survey study.

Mol Genet Metab Rep 2018 Mar 9;14:27-30. Epub 2017 Nov 9.

Department of Neurology, Columbia University Medical Center, 710 W. 168th St., New York, NY 10032, United States.

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http://dx.doi.org/10.1016/j.ymgmr.2017.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5683804PMC
March 2018

Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients.

J Hum Genet 2018 Mar 20;63(3):257-261. Epub 2017 Dec 20.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://www.nature.com/articles/s10038-017-0375-x
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http://dx.doi.org/10.1038/s10038-017-0375-xDOI Listing
March 2018

Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy.

Am J Med 2018 Feb 21;131(2):200.e1-200.e8. Epub 2017 Sep 21.

Hypertrophic Cardiomyopathy Institute, Division of Cardiology, Tufts Medical Center, Boston, Mass.

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http://dx.doi.org/10.1016/j.amjmed.2017.09.010DOI Listing
February 2018

Evolution of cardiac pathology in classic Fabry disease: Progressive cardiomyocyte enlargement leads to increased cell death and fibrosis, and correlates with severity of ventricular hypertrophy‬‬‬‬‬‬‬‬.

Int J Cardiol 2017 Dec 23;248:257-262. Epub 2017 Jun 23.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2017.06.079DOI Listing
December 2017

Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy.

J Med Genet 2017 11 23;54(11):771-780. Epub 2017 Aug 23.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1136/jmedgenet-2017-104704DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740533PMC
November 2017

Reply.

Hepatology 2017 Nov 21. Epub 2017 Nov 21.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.

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http://doi.wiley.com/10.1002/hep.29674
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http://dx.doi.org/10.1002/hep.29674DOI Listing
November 2017

Acute hepatic porphyrias: Recommendations for evaluation and long-term management.

Hepatology 2017 10 4;66(4):1314-1322. Epub 2017 Sep 4.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.

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http://dx.doi.org/10.1002/hep.29313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5605422PMC
October 2017

The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.

J Med Genet 2017 09 29;54(9):585-590. Epub 2017 Jun 29.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA.

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http://dx.doi.org/10.1136/jmedgenet-2017-104561DOI Listing
September 2017

Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes.

Mol Genet Metab 2017 Jan - Feb;120(1-2):57-61. Epub 2016 Oct 19.

ARCHIMED Life Science, Leberstrasse 20, 1110 Vienna, Austria. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192163032
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http://dx.doi.org/10.1016/j.ymgme.2016.10.006DOI Listing
August 2017

Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues.

Mol Genet Metab 2017 Jan - Feb;120(1-2):1-7. Epub 2016 Nov 12.

Department of Human Genetics and Medicine, University of Miami Miller School of Medicine, Miami, FL 33136, USA.

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http://dx.doi.org/10.1016/j.ymgme.2016.10.010DOI Listing
August 2017

Types A and B Niemann-Pick disease.

Mol Genet Metab 2017 Jan - Feb;120(1-2):27-33. Epub 2016 Dec 16.

Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029, United States.

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http://dx.doi.org/10.1016/j.ymgme.2016.12.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5347465PMC
August 2017

Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease.

Mol Genet Metab 2017 08 17;121(4):320-324. Epub 2017 Jun 17.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.06.006DOI Listing
August 2017

Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes.

Circ Cardiovasc Genet 2017 Aug;10(4)

From the Faculty of Medicine, University of Iceland, Reykjavik, Iceland (B.A., R.P., R.A., G.T.G.); Division of Cardiology (B.A., R.D.), Department of Genetics (R.A.), Division of Nephrology (R.P.), and Department of Radiology (M.G.), Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland; Department of Cardiology, Haukeland University Hospital, Bergen, Norway (B.A.); Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY (R.J.D., B.C., S.P.); Department of Genetics, Harvard Medical School, Boston, MA (P.T., M.A.B., J.G.S., C.E.S.); Division of Cardiovascular Medicine, Beth Israel Deaconess Medical Center, Boston, MA (E.A., U.N.); Division of Cardiology, Hypertrophic Cardiomyopathy Center, Tufts Medical Center, Boston, MA (M.M., B.J.M.); Cardiovascular Division, Brigham and Women's Hospital, Boston, MA (M.A.B., C.E.S.); Division of Cardiology, Emory University School of Medicine, Atlanta, GA (M.A.B.); Department of Medical Endocrinology, Rigshospitalet and University of Copenhagen, Denmark (C.V.M., U.F.-R.); Howard Hughes Medical Institute, Boston, MA (C.E.S.); and Department of Medicine, Akureyri Hospital, Iceland (G.T.G.).

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001639DOI Listing
August 2017

Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening.

Genet Med 2017 06 13;19(6):652-658. Epub 2016 Oct 13.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

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http://dx.doi.org/10.1038/gim.2016.159DOI Listing
June 2017

Acute Intermittent Porphyria in children: A case report and review of the literature.

Mol Genet Metab 2016 12 15;119(4):295-299. Epub 2016 Oct 15.

Department of Genetics and Genomic Science, Icahn School of Medicine at Mount Sinai, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.10.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5154763PMC
December 2016

Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.

J Am Coll Cardiol 2016 Dec;68(23):2554-2563

Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan; Taiwan Clinical Trial Consortium in Fabry Disease, Taipei, Taiwan; Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2016.09.943DOI Listing
December 2016

Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study.

Mol Genet Metab 2016 11 24;119(3):278-283. Epub 2016 Aug 24.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, Unites States. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5083146PMC
http://dx.doi.org/10.1016/j.ymgme.2016.08.006DOI Listing
November 2016

A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF.

Gastroenterology 2016 10 1;151(4):710-723.e2. Epub 2016 Jul 1.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York; Division of Gastroenterology, Icahn School of Medicine at Mount Sinai, New York, New York; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2016.06.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037012PMC
October 2016

Long-Read Single Molecule Real-Time Full Gene Sequencing of Cytochrome P450-2D6.

Hum Mutat 2016 Mar 18;37(3):315-23. Epub 2015 Dec 18.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, 10029.

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http://dx.doi.org/10.1002/humu.22936DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752389PMC
March 2016

Genetics of GNE myopathy in the non-Jewish Persian population.

Eur J Hum Genet 2016 Feb 13;24(2):243-51. Epub 2015 May 13.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1038/ejhg.2015.78DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717203PMC
February 2016

Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation.

Clin Genet 2015 Nov 11;88(5):489-493. Epub 2014 Dec 11.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1111/cge.12539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4769376PMC
November 2015

Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance.

J Hum Genet 2015 Nov 27;60(11):717-22. Epub 2015 Aug 27.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1038/jhg.2015.103DOI Listing
November 2015

Enzyme replacement therapy stabilized white matter lesion progression in Fabry disease.

Cerebrovasc Dis 2014 11;38(6):448-56. Epub 2014 Dec 11.

Department of Psychiatry and Psychotherapy, University Medical Center Mainz, Mainz, Germany.

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http://dx.doi.org/10.1159/000369293DOI Listing
September 2015

Afamelanotide for Erythropoietic Protoporphyria.

N Engl J Med 2015 Jul;373(1):48-59

The Department of Internal Medicine, Center of Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam (J.G.L., F.P.J.K., E.J.G.S., F.W.M.R., J.H.P.W.), and the Department of Dermatology, Maastricht University Medical Center, Maastricht (J.F.) - both in the Netherlands; the Departments of Genetics and Genomic Sciences (M.B., H.N., R.J.D.) and Dermatology (M.L.), Icahn School of Medicine at Mount Sinai, New York; the Departments of Preventive Medicine and Community Health, and Internal Medicine and the Institute for Translational Sciences, University of Texas Medical Branch, Galveston (K.E.A.); the Department of Internal Medicine, Wake Forest University School of Medicine, Winston-Salem, NC (H.L.B.); Royal Gwent Hospital, Newport (A.V.A., C.E.), the Centre for Dermatology, University of Manchester, Salford Royal Hospital, Manchester (L.E.R.), and the Ludwig Institute for Cancer Research, Nuffield Department of Medicine, University of Oxford, Oxford (C.R.G.) - all in the United Kingdom; the Department of Medicine, University of California, San Francisco, San Francisco (D.M.B.); the Department of Medicine, University of Alabama, Birmingham (J.B.); the Department of Dermatology, Heinrich Heine University, Duesseldorf, Germany (N.J.N., J.F.); the Department of Internal Medicine, University of Utah, Salt Lake City (C.P., J.D.P.); the Department of Dermatology, Henry Ford Hospital, Detroit (H.W.L., I.H.); Hôpital Louis-Mourier, Hôpitaux Universitaire Paris Nord Val de Seine, Assistance Publique-Hôpitaux de Paris, INSERM Unité 1149, Université Paris Diderot, Colombes, France (J.-C.D.); the Departments of Medicine and Dermatology, University Hospital of Helsinki, Helsinki (R.K.); and the Department of Dermatology, Beaumont Hospital, Dublin (G.M.M.).

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http://dx.doi.org/10.1056/NEJMoa1411481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4780255PMC
July 2015

Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III).

Am J Med Genet A 2015 May 27;167A(5):1061-70. Epub 2015 Feb 27.

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.

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http://dx.doi.org/10.1002/ajmg.a.36973DOI Listing
May 2015

α-Galactosidase A knockout mice: progressive organ pathology resembles the type 2 later-onset phenotype of Fabry disease.

Am J Pathol 2015 Mar 29;185(3):651-65. Epub 2014 Dec 29.

Department of Pathology, Genzyme Corporation, a Sanofi Company, Framingham, Massachusetts.

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http://dx.doi.org/10.1016/j.ajpath.2014.11.004DOI Listing
March 2015

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Genome Res 2015 Mar 30;25(3):305-15. Epub 2015 Jan 30.

Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA;

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http://dx.doi.org/10.1101/gr.183483.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352885PMC
March 2015

JCL Roundtable: enzyme replacement therapy for lipid storage disorders.

J Clin Lipidol 2014 Sep-Oct;8(5):463-72. Epub 2014 Jul 15.

Synageva BioPharma Corp., 33 Hayden Ave., Lexington, MA 02421, USA.

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http://dx.doi.org/10.1016/j.jacl.2014.07.006DOI Listing
February 2015

Setleis syndrome: genetic and clinical findings in a new case with epilepsy.

Pediatr Neurol 2014 Apr 14;50(4):389-91. Epub 2013 Dec 14.

Division of Medical Genetics, Galliera Hospital, Genova, Italy.

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.12.009DOI Listing
April 2014

An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy.

Genet Med 2014 Feb 20;16(2):149-56. Epub 2013 Jun 20.

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, New York, USA.

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http://dx.doi.org/10.1038/gim.2013.84DOI Listing
February 2014

Rapid molecular diagnosis of genetic diseases by high resolution melting analysis: fabry and glycogen storage 1A diseases.

Genet Test Mol Biomarkers 2014 Jan 17;18(1):3-7. Epub 2013 Dec 17.

1 Department of Pediatric Metabolic Disorders and Pediatric Genetics, Gazi University Faculty of Medicine , Ankara, Turkey .

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http://dx.doi.org/10.1089/gtmb.2013.0371DOI Listing
January 2014

Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice.

Am J Hum Genet 2013 Dec 21;93(6):1061-71. Epub 2013 Nov 21.

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA; Simon Winter Institute for Human Genetics, Bnai-Zion Medical Center, 31048 Haifa, Israel; Clalit Health Services Group, 30810 Sakhnin City, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.10.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3852924PMC
December 2013

An allele-specific PCR system for rapid detection and discrimination of the CYP2C19∗4A, ∗4B, and ∗17 alleles: implications for clopidogrel response testing.

J Mol Diagn 2013 Nov 5;15(6):783-9. Epub 2013 Sep 5.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2013.06.004DOI Listing
November 2013

Warfarin pharmacogenetics: a controlled dose-response study in healthy subjects.

Vasc Med 2013 Oct 12;18(5):290-7. Epub 2013 Sep 12.

Vascular Medicine Section, The Zena and Michael A Wiener Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1177/1358863X13503193DOI Listing
October 2013

Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.

Hepatology 2013 Sep 29;58(3):958-65. Epub 2013 Jul 29.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1002/hep.26327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3690149PMC
September 2013

Morbidity and mortality in type B Niemann-Pick disease.

Genet Med 2013 Aug 14;15(8):618-23. Epub 2013 Feb 14.

Department of Pediatrics, Stony Brook School of Medicine, Stony Brook, New York, USA.

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http://dx.doi.org/10.1038/gim.2013.4DOI Listing
August 2013

The porphyrias: advances in diagnosis and treatment.

Hematology Am Soc Hematol Educ Program 2012 ;2012:19-27

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029-6574, USA.

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http://dx.doi.org/10.1182/asheducation-2012.1.19DOI Listing
June 2013

Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.

J Hepatol 2013 Jun 26;58(6):1230-43. Epub 2013 Feb 26.

Division of Medical Genetics, North Shore-Long Island Jewish Health System, 1554 Northern Boulevard, Suite 204, Manhasset, NY 11030, United States.

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https://linkinghub.elsevier.com/retrieve/pii/S01688278130013
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http://dx.doi.org/10.1016/j.jhep.2013.02.014DOI Listing
June 2013

Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria.

Mol Med 2013 Mar 5;19:18-25. Epub 2013 Mar 5.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, Mount Sinai Medical Center, New York, New York 10029, USA.

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http://dx.doi.org/10.2119/molmed.2013.00003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3592931PMC
March 2013

The porphyrias: advances in diagnosis and treatment.

Blood 2012 Nov 12;120(23):4496-504. Epub 2012 Jul 12.

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA.

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http://dx.doi.org/10.1182/blood-2012-05-423186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3512229PMC
November 2012

Copy number variation and warfarin dosing: evaluation of CYP2C9, VKORC1, CYP4F2, GGCX and CALU.

Pharmacogenomics 2012 Feb 21;13(3):297-307. Epub 2011 Dec 21.

Department of Genetics & Genomic Sciences, Box 1497, Mount Sinai School of Medicine, 1428 Madison Avenue, New York, NY 10029, USA.

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http://dx.doi.org/10.2217/pgs.11.156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3292047PMC
February 2012

Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes.

Mol Med 2011 25;17(7-8):748-56. Epub 2011 Feb 25.

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA.

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http://dx.doi.org/10.2119/molmed.2010.00258DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3146604PMC
December 2011

Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide.

Mol Genet Metab 2011 Dec 16;104(4):700-2. Epub 2011 Sep 16.

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S109671921100324
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http://dx.doi.org/10.1016/j.ymgme.2011.09.013DOI Listing
December 2011

Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletion.

Mol Genet Metab 2011 Nov 14;104(3):314-8. Epub 2011 May 14.

Department of Medical Endocrinology, National University Hospital, Blegdamsvej 9, DK-2100 Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ymgme.2011.05.008DOI Listing
November 2011

Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin.

Int J Biochem Cell Biol 2011 Oct 27;43(10):1523-31. Epub 2011 Jul 27.

Human Molecular Genetics Laboratory, Department of Biochemistry, UPR School of Medicine, San Juan, PR 00936, USA.

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http://dx.doi.org/10.1016/j.biocel.2011.07.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3163740PMC
October 2011

Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.

J Hum Genet 2011 Sep 28;56(9):682-4. Epub 2011 Jul 28.

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1038/jhg.2011.78DOI Listing
September 2011

A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen.

J Chromatogr B Analyt Technol Biomed Life Sci 2011 Aug 6;879(24):2389-96. Epub 2011 Jul 6.

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10029, USA.

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http://dx.doi.org/10.1016/j.jchromb.2011.06.034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3269068PMC
August 2011

Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease.

Hum Mutat 2011 Jun 29;32(6):688-95. Epub 2011 Mar 29.

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA.

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http://doi.wiley.com/10.1002/humu.21474
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http://dx.doi.org/10.1002/humu.21474DOI Listing
June 2011

Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele.

J Inherit Metab Dis 2011 Jun 23;34(3):789-93. Epub 2011 Mar 23.

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, Fifth Avenue at 100th Street, Box 1498, New York, NY 10029, USA.

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http://dx.doi.org/10.1007/s10545-011-9307-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3269069PMC
June 2011