William Gahl

William Gahl

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William Gahl

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Chronic Dengue Virus Panencephalitis in a Patient with Progressive Dementia with Extrapyramidal Features.

Ann Neurol 2019 Nov 11;86(5):695-703. Epub 2019 Sep 11.

Section of Infections of the Nervous System, Translational Neuroscience Center, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.

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http://dx.doi.org/10.1002/ana.25588DOI Listing
November 2019

Maternal ornithine transcarbamylase deficiency, a genetic condition associated with high maternal and neonatal mortality every clinician should know: A systematic review.

Am J Med Genet A 2019 Oct 22;179(10):2091-2100. Epub 2019 Aug 22.

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.61329DOI Listing
October 2019

A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.

Genet Med 2019 08 31;21(8):1772-1780. Epub 2019 Jan 31.

Office of the Clinical Director, National Human Genome Research Institute, and Undiagnosed Diseases Program and Network, Office of the Director, National Institutes of Health, Bethesda, MD, USA.

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http://www.nature.com/articles/s41436-019-0434-0
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http://dx.doi.org/10.1038/s41436-019-0434-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6669106PMC
August 2019

Bleomycin Induces Drug Efflux in Lungs: A pitfall for Pharmacological Studies of Pulmonary Fibrosis.

Am J Respir Cell Mol Biol 2019 Aug 16. Epub 2019 Aug 16.

National Institute on Alcohol Abuse and Alcoholism, 8387, Laboratory of Physiological Studies, Bethesda, Maryland, United States;

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http://dx.doi.org/10.1165/rcmb.2018-0147OCDOI Listing
August 2019

Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.

Mol Genet Metab 2019 Aug 14. Epub 2019 Aug 14.

Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; The Wohl Institute for Translational Medicine, Sheba Medical Center, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.08.003DOI Listing
August 2019

A comprehensive, multidisciplinary, precision medicine approach to discover effective therapy for an undiagnosed, progressive, fibroinflammatory disease.

Transl Res 2019 Aug 28. Epub 2019 Aug 28.

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1016/j.trsl.2019.08.008DOI Listing
August 2019

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 Jul 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

Comparison of Three-Dimensional Surface Imaging Systems Using Landmark Analysis.

J Craniofac Surg 2019 Jul 22. Epub 2019 Jul 22.

National Institute of Dental and Craniofacial Research, National Institutes of Health.

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http://Insights.ovid.com/crossref?an=00001665-201909000-0006
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http://dx.doi.org/10.1097/SCS.0000000000005795DOI Listing
July 2019

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Am J Hum Genet 2019 Jun 30;104(6):1127-1138. Epub 2019 May 30.

Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Human Biochemical Genetics Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562152PMC
June 2019

Pediatric CNS-isolated hemophagocytic lymphohistiocytosis.

Neurol Neuroimmunol Neuroinflamm 2019 May 8;6(3):e560. Epub 2019 Apr 8.

Department of Neurology (L.A.B., M.J.R., M.P.G.), Boston Children's Hospital; Dana-Farber/Boston Children's Cancer and Blood Disorders Center (H.L., A.L.K., L.E.L., B.A.D., C.N.D.); Department of Rheumatology (L.A.H., R.P.S.), Boston Children's Hospital; Department of Pathology (I.H.S002E, S.A.), Boston Children's Hospital, Boston, MA; Undiagnosed Diseases Program (A.S., J.M., W.A.G.), National Human Genome Research Institute; Neuroimmunological Diseases Section (B.B.), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases; Laboratory of Clinical Immunology and Microbiology (A.P.H., S.M.H.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; and Division of Hematology, Oncology (M.L.A.), and Marrow and Blood Cell Transplantation, Children's Hospital at Montefiore, Bronx, NY.

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http://dx.doi.org/10.1212/NXI.0000000000000560DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467688PMC
May 2019

Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.

PLoS Genet 2019 May 24;15(5):e1008143. Epub 2019 May 24.

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.

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http://dx.plos.org/10.1371/journal.pgen.1008143
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http://dx.doi.org/10.1371/journal.pgen.1008143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6534290PMC
May 2019

Glycomics in rare diseases: from diagnosis tomechanism.

Transl Res 2019 04 23;206:5-17. Epub 2018 Oct 23.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland; Office of the Clinical Director, NHGRI, National Institutes of Health, Bethesda, Maryland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S19315244183018
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http://dx.doi.org/10.1016/j.trsl.2018.10.005DOI Listing
April 2019

The Immunome in Two Inherited Forms of Pulmonary Fibrosis.

Front Immunol 2018 31;9:76. Epub 2018 Jan 31.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

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http://journal.frontiersin.org/article/10.3389/fimmu.2018.00
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http://dx.doi.org/10.3389/fimmu.2018.00076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5797737PMC
February 2019

Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.

Mol Genet Metab 2019 02 3;126(2):188-195. Epub 2018 Dec 3.

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.12.001DOI Listing
February 2019

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

Orphanet J Rare Dis 2019 02 21;14(1):52. Epub 2019 Feb 21.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1851, Bethesda, MD, 20892-1851, USA.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
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http://dx.doi.org/10.1186/s13023-019-1023-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385472PMC
February 2019

Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy.

Neurol Genet 2019 Feb 24;5(1):e305. Epub 2019 Jan 24.

Department of Human Genetics (B.N., Q.S.P.), Graduate School of Public Health, University of Pittsburgh; Department of Medical Sciences (E.G., A.B.), University of Torino, Italy; Department of Radiology (R.R.), Uppsala University, Sweden; Department of Medical Genetics (A.L.), British Columbia Children's Hospital, Vancouver, Canada; Department of Genome Sciences (M. Spielmann), University of Washington, Seattle; Department of Pediatrics (M.K.K., R.A., M.K.), McGovern Medical School, University of Texas, Houston; Departments of Clinical Genomics and Neurology (R.G.), Mayo Clinic, Rochester, MN; Department of Pathology (M.A.), King Abdulaziz University, Jeddah, Saudi Arabia; Department of Medical Imaging (M. Sharma), Western University, London, Canada; Departments of Pathology and Clinical Neurological Sciences (R.H.), Western University and London Health Sciences Centre, Canada; Office of the Clinical Director (W.A.G., C.T.), NHGRI; and NIH Undiagnosed Diseases Program (W.A.G., C.T.), Office of the Director, NIH, Bethesda, MD.

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http://dx.doi.org/10.1212/NXG.0000000000000305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384018PMC
February 2019

DDX58 and Classic Singleton-Merten Syndrome.

J Clin Immunol 2019 Jan 20;39(1):75-80. Epub 2018 Dec 20.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, UK.

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http://dx.doi.org/10.1007/s10875-018-0572-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394545PMC
January 2019

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.

Ophthalmology 2018 12 25;125(12):1937-1952. Epub 2018 Jul 25.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland; Johns Hopkins University School of Medicine, Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine, Baltimore, Maryland.

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http://dx.doi.org/10.1016/j.ophtha.2018.05.026DOI Listing
December 2018

Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia.

Am J Med Genet A 2018 12 4;176(12):2930-2933. Epub 2018 Dec 4.

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.40658DOI Listing
December 2018

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.

Am J Hum Genet 2018 12;103(6):948-967

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; NIH Undiagnosed Diseases Program, NHGRI and the Common Fund, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288279PMC
December 2018

Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.

Am J Med Genet A 2018 12 11;176(12):2768-2776. Epub 2018 Dec 11.

Office of the Clinical Director, NHGRI, and NIH Undiagnosed Diseases Program, Office of the Director, National Institutes of Health, Bethesda, Maryland.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.40628
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http://dx.doi.org/10.1002/ajmg.a.40628DOI Listing
December 2018

Thoracic involvement in Erdheim-Chester disease: computed tomography imaging findings and their association with the BRAF mutation.

Eur Radiol 2018 Nov 7;28(11):4635-4642. Epub 2018 May 7.

Radiology and Imaging Sciences, National Institutes of Health Clinical Center, 10 Center Dr, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/s00330-018-5421-3DOI Listing
November 2018

Hermansky-Pudlak syndrome with a novel genetic variant in and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases.

Thorax 2018 11 25;73(11):1085-1088. Epub 2018 Jun 25.

Irish Centre for Genetic Lung Disease, Royal College of Surgeons in Ireland, Beaumont Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1136/thoraxjnl-2018-211920DOI Listing
November 2018

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.

N Engl J Med 2018 11 10;379(22):2131-2139. Epub 2018 Oct 10.

From Harvard Medical School (K.S., C.E., I.S.K., J.L., A.T.M., D.A.S.), Brigham and Women's Hospital (J.L.), and Massachusetts General Hospital (D.A.S.) - all in Boston; the National Institutes of Health Clinical Center (D.R.A., W.A.G., J.J.M., C.J.T.) and the National Human Genome Research Institute (A.L.W.), Bethesda, and the University of Maryland, College Park (A.M.C.-J., B.K., L.P.) - all in Maryland; Baylor College of Medicine, Houston (C.A.B., H.J.B., C.M.E., B.H.L., X.L., M.F.W., S.Y.); Stanford University, Stanford (J.A.B., C.R., M.T.W., E.A.A.), and the University of California, Los Angeles, Los Angeles (S.F.N., C.G.S.P.) - both in California; Vanderbilt University, Nashville (R.H., J.A.P.); HudsonAlpha Institute for Biotechnology, Huntsville, AL (H.J.J., E.A.W.); Oregon Health and Science University, Portland (D.M.K.); the Pacific Northwest National Laboratory, Richland, WA (T.O.M.); the University of Oregon, Eugene (J.H.P., M.W.); and Duke University, Durham, NC (V.S., N.M.W.).

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http://www.nejm.org/doi/10.1056/NEJMoa1714458
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http://dx.doi.org/10.1056/NEJMoa1714458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481166PMC
November 2018

Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features.

J Med Genet 2018 Nov 1. Epub 2018 Nov 1.

Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2018-105560
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http://dx.doi.org/10.1136/jmedgenet-2018-105560DOI Listing
November 2018

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Am J Hum Genet 2018 11 25;103(5):794-807. Epub 2018 Oct 25.

National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183035
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http://dx.doi.org/10.1016/j.ajhg.2018.09.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218603PMC
November 2018

Skeletal Consequences of Nephropathic Cystinosis.

J Bone Miner Res 2018 10 20;33(10):1870-1880. Epub 2018 Jul 20.

Section on Skeletal Disorders and Mineral Homeostasis, National Institutes of Dental and Craniofacial Research (NIDCR), National Institutes of Health (NIH), Bethesda, MD, USA.

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http://dx.doi.org/10.1002/jbmr.3522DOI Listing
October 2018

An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome.

J Allergy Clin Immunol 2018 09 11;142(3):914-927.e6. Epub 2017 Dec 11.

Receptor Cell Biology Section, Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rockville, MD. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749173188
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http://dx.doi.org/10.1016/j.jaci.2017.10.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5995607PMC
September 2018

Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAF mutation.

Eur Radiol 2018 Sep 19;28(9):3751-3759. Epub 2018 Mar 19.

Radiology and Imaging Sciences, National Institutes of Health Clinical Center, 10 Center Dr, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/s00330-018-5326-1DOI Listing
September 2018

Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis.

Mol Genet Metab 2018 09 23;125(1-2):168-173. Epub 2018 Jul 23.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183030
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http://dx.doi.org/10.1016/j.ymgme.2018.07.012DOI Listing
September 2018

Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.

Mol Genet Metab 2018 09 24;125(1-2):181-191. Epub 2018 Jul 24.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; Johns Hopkins University School of Medicine, Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine, Baltimore, MD, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.07.010DOI Listing
September 2018

Quantification of lectin fluorescence in GNE myopathy muscle biopsies.

Muscle Nerve 2018 Aug 23;58(2):286-292. Epub 2018 Apr 23.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bld. 10, Room 10C103 Bethesda, Maryland, 20892, USA.

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http://dx.doi.org/10.1002/mus.26135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105422PMC
August 2018

Oculogyric crises in PLA2G6 associated neurodegeneration.

Parkinsonism Relat Disord 2018 07 17;52:111-112. Epub 2018 Mar 17.

Department of Medical Genetics and Molecular Biology, Iran University of Medical Sciences, Tehran, Iran; Medical Genetics Branch, National Human Genome Research Institute (NHGRI), Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2018.03.010DOI Listing
July 2018

Undiagnosed Diseases: Italy-US Collaboration and International Efforts to Tackle Rare and Common Diseases Lacking a Diagnosis.

Adv Exp Med Biol 2017 ;1031:25-38

Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Rockville, MD, USA.

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http://link.springer.com/10.1007/978-3-319-67144-4_2
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http://dx.doi.org/10.1007/978-3-319-67144-4_2DOI Listing
June 2018

Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F.

Neurol Genet 2018 Jun 8;4(3):e240. Epub 2018 Jun 8.

Department of Neurology (N.M.S., M.D.G.), University of California San Francisco, CA; Laboratory of Cancer Biology and Genetics (J.J.D., K.H.K.), Center for Cancer Research, National Cancer Institute, National Institutes of Health; NIH Undiagnosed Diseases Program (C.G., R.G., M.C.V.M., W.A.G., C.T.), National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Department of Molecular Medicine (M.J.Y., E.A.W., L.J.N.), Center on Aging, The Scripps Research Institute, Jupiter, FL.

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http://dx.doi.org/10.1212/NXG.0000000000000240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5994703PMC
June 2018

CTNS molecular genetics profile in a Persian nephropathic cystinosis population.

Nefrologia 2017 May - Jun;37(3):301-310. Epub 2017 Feb 24.

Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences (IUMS), Tehran, Iran; Department of Pediatrics, Faculty of Medicine, Ali Asghar Children Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran; Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nefro.2016.11.024DOI Listing
May 2018

Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.

Mol Genet Metab 2018 05 10;124(1):82-86. Epub 2018 Mar 10.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology Mayo Clinic College of Medicine, Rochester, MN, USA.

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http://dx.doi.org/10.1016/j.ymgme.2018.03.002DOI Listing
May 2018

Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report.

BMC Med Genet 2018 05 16;19(1):80. Epub 2018 May 16.

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1186/s12881-018-0597-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5956920PMC
May 2018

Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.

Hum Genet 2018 Apr 24;137(4):293-303. Epub 2018 Apr 24.

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1007/s00439-018-1882-3DOI Listing
April 2018

The curse of idiopathic.

J Inherit Metab Dis 2018 01 27;41(1):3-4. Epub 2017 Oct 27.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1851, Bethesda, MD, 20892-1851, USA.

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http://dx.doi.org/10.1007/s10545-017-0101-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6707969PMC
January 2018

Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments.

EMBO Mol Med 2018 01;10(1):1-3

Undiagnosed Diseases Program and National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.15252/emmm.201708365DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5760852PMC
January 2018

Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?

Dev Med Child Neurol 2017 12 1;59(12):1307-1311. Epub 2017 Aug 1.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, Bethesda, MD, USA.

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http://dx.doi.org/10.1111/dmcn.13509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685901PMC
December 2017

A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity.

Hum Mutat 2017 12 20;38(12):1751-1760. Epub 2017 Sep 20.

Department of Pharmacology, Emory University School of Medicine, Atlanta, Georgia.

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http://doi.wiley.com/10.1002/humu.23336
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http://dx.doi.org/10.1002/humu.23336DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5679302PMC
December 2017

Defective ciliogenesis in INPP5E-related Joubert syndrome.

Am J Med Genet A 2017 Dec 20;173(12):3231-3237. Epub 2017 Oct 20.

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38376DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685896PMC
December 2017

Cover Image, Volume 173A, Number 12, December 2017.

Am J Med Genet A 2017 Dec;173(12)

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38548DOI Listing
December 2017

Disorders of metal metabolism.

Transl Sci Rare Dis 2017 Dec 18;2(3-4):101-139. Epub 2017 Dec 18.

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.

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http://dx.doi.org/10.3233/TRD-170015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5764069PMC
December 2017

Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy.

Mol Genet Metab 2017 09 26;122(1-2):126-134. Epub 2017 Apr 26.

Therapeutics for Rare and Neglected Diseases, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD 20892, USA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5949875PMC
September 2017

Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients.

Am J Med Genet A 2017 Aug 1;173(8):2210-2218. Epub 2017 Jun 1.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5526054PMC
August 2017

Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients.

Mol Genet Metab 2017 08 30;121(4):336-343. Epub 2017 May 30.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Johns Hopkins University School of Medicine, Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine, Baltimore, MD, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192173009
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http://dx.doi.org/10.1016/j.ymgme.2017.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5555226PMC
August 2017

Lysosomal storage diseases.

Transl Sci Rare Dis 2017 May 25;2(1-2):1-71. Epub 2017 May 25.

Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.3233/TRD-160005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685203PMC
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

Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.

Mol Genet Metab 2017 04 27;120(4):378-383. Epub 2017 Feb 27.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2017.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395203PMC
April 2017

Abnormal glycosylation in Joubert syndrome type 10.

Cilia 2017 23;6. Epub 2017 Mar 23.

NIH Undiagnosed Disease Program, Common Fund, Office of the Director, and National Human Genome Research Institute, National Institutes of Health, Bethesda, MD USA.

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http://dx.doi.org/10.1186/s13630-017-0048-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5364566PMC
March 2017

ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.

PLoS Genet 2017 02 3;13(2):e1006481. Epub 2017 Feb 3.

Department of Molecular, Cell, and Developmental Biology, University of California Los Angeles, Los Angeles, California, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1006481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5291374PMC
February 2017

Neurologic involvement in patients with atypical Chediak-Higashi disease.

Neurology 2017 02;88(7):e57-e65

From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., S.G.Z., M.C.V.M. D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences, Clinical Center (E.H.B.), Electromyography Section, Office of the Clinical Director, National Institute of Neurological Disorders and Stroke (T.J.L.), and Office of the Clinical Director, National Institute of Mental Health (J.S.), National Institutes of Health, Bethesda, MD; and Metabolic and Clinical Geneticist (V.B.), Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis.

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http://dx.doi.org/10.1212/WNL.0000000000003622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5584077PMC
February 2017

The clinical spectrum of Erdheim-Chester disease: an observational cohort study.

Blood Adv 2017 Feb;1(6):357-366

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health. 10 Center Dr, Bldg 10, Room 3-2551, Bethesda, Maryland, USA, 20892. Telephone: 301-594-2952.

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http://dx.doi.org/10.1182/bloodadvances.2016001784DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5446206PMC
February 2017