Physician

Medical Genetics

William A. Gahl, MD practices Medical Genetics. He went to University of Wisconsin School of Medicine and Public Health. He received awards:"Elected Member". William Gahl is a published doctor as well. He has 103 publications published. The latest was: Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification.

Publications

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• Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration.
• Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.
• The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension.
• A clinical report of Chediak-Higashi syndrome in infancy with a novel genotype from the Indian subcontinent.
• York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.
• Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.
• In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.
• Cystinosis: renal glomerular and renal tubular function in relation to compliance with cystine-depleting therapy.
• Pregnancy in autosomal recessive polycystic kidney disease.
• ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.
• Important Role of Translational Science in Rare Disease Innovation, Discovery, and Drug Development.
• Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.
• The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.
• Mutation Update for GNE Gene Variants Associated with GNE Myopathy.
• Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insens...
• GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.
• Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy.
• Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria.
• Dysregulation of Galectin-3: Implications for Hermansky-Pudlak Syndrome Pulmonary Fibrosis.
• Multi-lineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23, and hypophosphatemia.
• Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12.
• Hermansky-pudlak syndrome: health care throughout life.
• A congenital neutrophil defect syndrome associated with mutations in VPS45.
• Chronic myopathy due to immunoglobulin light chain amyloidosis.
• Diabetes insipidus, bone lesions, and new-onset red-brown papules in a 42-year-old man.
• DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics.
• A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3).
• Kearns-Sayre syndrome presenting as isolated growth failure.
• Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia...
• Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease.
• 1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.
• Cystinosis: the evolution of a treatable disease.
• Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy.
• Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapy.
• The battlefield of rare diseases: where uncommon insights are common.
• Rapid ultrastructural detection of success or failure after bone marrow transplantation in the Chediak-Higashi syndrome.
• Cysteamine suppresses invasion, metastasis and prolongs survival by inhibiting matrix metalloproteinases in a mouse model of human pancreatic cancer.
• Detecting false-positive signals in exome sequencing.
• The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.
• IgG4-related disease presenting as recurrent mastoiditis.
• The medical sleuth. Interview by Brendan Borrell.
• Aortic stenosis and vascular calcifications in alkaptonuria.
• Identification, Tissue Distribution, and Molecular Modeling of Novel Human Isoforms of the Key Enzyme in Sialic Acid Synthesis, UDP-GlcNAc 2-Epimerase/ManNAc Kinase.
• Interstitial Lung Disease and Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Type 2, an AP-3 Complex Disease.
• Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases.
• Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism.
• Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease.
• Response to editor for: ABCC6 does not transport adenosine - Relevance to pathomechanism of pseudoxanthoma elasticum.
• Cellular and clinical report of new Griscelli syndrome type III cases.
• Clinical, Molecular, and Cellular Features of Non-Puerto Rican Hermansky-Pudlak Syndrome Patients of Hispanic Descent.
• Genetic basis of cystinosis in Turkish patients: a single-center experience.
• Cysteamine Toxicity in Patients with Cystinosis.
• Reply to Professor Lefthériotis et al.
• Congenital Hepatic Fibrosis And Portal Hypertension In Autosomal Dominant Polycystic Kidney Disease.
• A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9.
• Automated Quantification of HRCT Findings in Individuals at Risk for Pulmonary Fibrosis.
• The NIH Undiagnosed Diseases Program: lessons learned.
• A 3-year randomized therapeutic trial of nitisinone in alkaptonuria.
• Vascular pathology of medial arterial calcifications in NT5E deficiency: Implications for the role of adenosine in pseudoxanthoma elasticum.
• Natural history of pulmonary fibrosis in two subjects with the same telomerase mutation.
• Hereditary Inclusion Body Myopathy: Single Patient Response to Intravenous Dosing of GNE Gene Lipoplex.
• Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis.
• A safety trial of high dose glyceryl triacetate for Canavan disease.
• Mouse model for Lowe syndrome/Dent disease 2 renal tubulopathy.
• NT5E mutations and arterial calcifications.
• Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion.
• NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet ?-granules.
• Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.
• Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I).
• Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.
• Effect of the secretory small GTPase Rab27B on breast cancer growth, invasion, and metastasis.
• OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.
• Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.
• Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.
• PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
• Mitochondrial autophagy promotes cellular injury in nephropathic cystinosis.
• Two novel mutations identified in an african-american child with chediak-higashi syndrome.
• Platelet polyphosphates are proinflammatory and procoagulant mediators in vivo.
• Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1.
• Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
• MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.
• Hermansky-Pudlak syndrome type 1 in patients of Indian descent.
• Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
• Hermansky-Pudlak syndrome in two African-American brothers.
• Newborn screening for Wilson disease: does liquid chromatography-tandem mass spectrometry provide the solution?
• Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.
• A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome.
• Phenotype and course of Hutchinson-Gilford progeria syndrome.
• An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome.
• Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.
• Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype.
• Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy.
• Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.
• Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5.
• Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.
• The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules.
• Collecting evidence: the case of collectrin (Tmem27) and amino acid transport.
• Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathy.
• Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases confe...
• Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification.
• Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms.
• The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.

Schools

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• University of Wisconsin Madison

Doctors Specialties

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• Clinical Biochemical Genetics
• Clinical Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

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Awards

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• Elected Member

Education

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• National Institutes of Health Clinical Center
• University of Wisconsin
• University of Wisconsin School of Medicine and Public Health

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