D. Krasnewich

发表

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

Ellen F. Macnamara, C. Toro, W. Gahl, 2016, Genetics in Medicine.

Hereditary inclusion body myopathy: a decade of progress.

M. Huizing, D. Krasnewich, 2009, Biochimica et biophysica acta.

Allele‐specific silencing of the dominant disease allele in sialuria by RNA interference

N. Caplen, W. Gahl, M. Huizing, 2008, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.

P. Oefner, J. Reddy, M. Ilyas, 2014, The New England journal of medicine.

CDG‐Id in two siblings with partially different phenotypes

H. Freeze, E. Eklund, D. Krasnewich, 2007, American journal of medical genetics. Part A.

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management

H. Freeze, F. Tort, Christina Lam, 2020, Journal of inherited metabolic disease.

Hypoglycosylation of α-dystroglycan in patients with hereditary IBM due to GNE mutations

A. Shatunov, W. Gahl, M. Dalakas, 2004 .

Sialic acid metabolism in sialuria fibroblasts.

G. Barsh, S. Packman, W. Gahl, 1991, The Journal of biological chemistry.

Deficiency of UDP‐GlcNAc:Dolichol Phosphate N‐Acetylglucosamine‐1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type Ij

H. Freeze, D. Krasnewich, M. Lubinsky, 2003, Human mutation.

Gaucher disease and parkinsonism: a phenotypic and genotypic characterization.

D. Krasnewich, E. Sidransky, M. Callahan, 2001, Molecular genetics and metabolism.

Dominant inheritance of sialuria, an inborn error of feedback inhibition.

G. Dacremont, W. Gahl, M. Huizing, 2001, American journal of human genetics.

Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome.

W. Gahl, D. Krasnewich, F. Skovby, 1995, Glycobiology.

Carbohydrate-deficient glycoprotein syndrome.

W. Gahl, D. Krasnewich, William A. Gahl, 1997, Advances in pediatrics.

Characteristics of undiagnosed diseases network applicants: implications for referring providers

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, BMC Health Services Research.

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

Matthew H. Brush, Trevor S. Frisby, Sarah E. Gould, 2017, Orphanet Journal of Rare Diseases.

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

H. Freeze, M. Patterson, Christina Lam, 2019, Journal of inherited metabolic disease.

An analog of ACTH/MSH (4–9), ORG-2766, reduces cerebral uptake of morphine

H. Goldman, S. Murphy, D. Krasnewich, 1982, Peptides.

A Participatory Framework for Plain Language Clinical Management Guideline Development

Christina Lam, D. Krasnewich, E. Morava, 2022, International journal of environmental research and public health.

Glucosylsphingosine Accumulation in Mice and Patients with Type 2 Gaucher Disease Begins Early in Gestation

E. Ginns, D. Krasnewich, B. Martin, 2000, Pediatric Research.

Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation

C. Tifft, D. Krasnewich, A. Gropman, 2004, American journal of medical genetics. Part A.

Localization of UDP glucuronosyltransferase gene(s) on mouse chromosome 5

C. Kozak, D. Krasnewich, D. Nebert, 1987, Somatic cell and molecular genetics.

Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19

R. Schiffmann, D. Krasnewich, R. Zori, 2009, American journal of medical genetics. Part A.

Brief report: Translocation involving chromosomes 1 and 7 in a boy with childhood-onset schizophrenia

J. Rapoport, D. Krasnewich, M. Lenane, 1994, Journal of autism and developmental disorders.

Quantitative dysmorphology assessment in Fabry disease

R. Schiffmann, R. Brady, C. Tifft, 2006, Genetics in Medicine.

Classic nephropathic cystinosis as an adult disease.

M. Kaiser-Kupfer, W. Gahl, D. Krasnewich, 1993, JAMA.

Long-term follow-up of well-treated nephropathic cystinosis patients.

W. Gahl, D. Krasnewich, C. Phornphutkul, 2004, The Journal of pediatrics.

Muscle Carnitine Repletion by Long-Term Carnitine Supplementation in Nephropathic Cystinosis

W. Gahl, T. Markello, M. Dalakas, 1993, Pediatric Research.

Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.

B. Galeano, W. Gahl, M. Huizing, 2007, The Journal of clinical investigation.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Benjamin J. Strober, Sarah E. Gould, David R. Murdock, 2019, Nature Medicine.

Childhood-onset schizophrenia/autistic disorder and t(1;7) reciprocal translocation: identification of a BAC contig spanning the translocation breakpoint at 7q21.

J. Rapoport, E. Green, S. Kumra, 2000, American journal of medical genetics.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

Ophthalmologic examination in the diagnosis of Proteus syndrome.

M. Kaiser-Kupfer, D. Krasnewich, M. Koutroumanidis, 1993, Ophthalmology.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Velocardiofacial syndrome in childhood-onset schizophrenia.

J. Rapoport, R. Nicolson, S. Hamburger, 1999, Journal of the American Academy of Child and Adolescent Psychiatry.

Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and "multidimensionally impaired".

J M Trent, J L Rapoport, J. Rapoport, 1998, American journal of medical genetics.

Familial dementia caused by polymerization of mutant neuroserpin

D. Lomas, P. Sonderegger, R. Carrell, 1999, Nature.

Lysosomal Storage Disorders in the Newborn

Ellen Sidransky, Donna Krasnewich, D. Krasnewich, 2009, Pediatrics.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.

D. Adams, C. Boerkoel, W. Gahl, 2015, Molecular genetics and metabolism.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, Genetics in Medicine.

Congenital Disorders of N-linked Glycosylation Pathway Overview

D. Krasnewich, Susan Sparks, Donna M. Krasnewich, 2014 .

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, American journal of human genetics.

Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.

J. Alroy, W. Gahl, D. Krasnewich, 2004, Molecular genetics and metabolism.

Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs

W. Gahl, M. Huizing, D. Krasnewich, 2003, American journal of medical genetics. Part A.

Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children

M. Rivkin, W. Gahl, M. Huizing, 2003, American journal of medical genetics. Part A.

Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.

Z. Quezado, W. Gahl, B. Turkbey, 2010, Clinical journal of the American Society of Nephrology : CJASN.

Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics.

M. Huizing, D. Krasnewich, E. Martins, 1999, Molecular genetics and metabolism.

The dbGaP data browser: a new tool for browsing dbGaP controlled-access genomic data

Laura Lyman Rodriguez, Erin M. Ramos, Stephen T. Sherry, 2016, Nucleic Acids Res..

Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.

James C Mullikin, Donna Krasnewich, Dennis Drayna, 2010, The New England journal of medicine.

Brief Report: Association of Sex Chromosome Anomalies With Childhood-Onset Psychotic Disorders

J. Rapoport, S. Kumra, L. Jacobsen, 1998 .

Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: An updated nomenclature for CDG

A. Helenius, E. Berger, T. Hennet, 1999, Glycoconjugate Journal.

Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathy.

W. Gahl, M. Dalakas, M. Huizing, 2005, Molecular genetics and metabolism.

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study

W. Gahl, M. Dalakas, M. Huizing, 2007, BMC neurology.

Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathy.

W. Gahl, M. Huizing, D. Krasnewich, 2006, Molecular genetics and metabolism.

Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.

W. Gahl, M. Dalakas, M. Huizing, 2005, Glycobiology.

Phosphomannomutase activity in congenital disorders of glycosylation type Ia determined by direct analysis of the interconversion of mannose-1-phosphate to mannose-6-phosphate by high-pH anion-exchange chromatography with pulsed amperometric detection.

D. Krasnewich, E. Sidransky, R. Long, 2003, Analytical biochemistry.

Congenital disorder of glycosylation-X: clinicopathologic study of an autopsy case with distinct neuropathologic features.

D. Krasnewich, E. Rushing, G. Vezina, 2007, Human pathology.

Clinical features in adults with congenital disorders of glycosylation type Ia (CDG‐Ia)

D. Krasnewich, S. Sparks, Kevin O'Brien, 2007, American journal of medical genetics. Part C, Seminars in medical genetics.

A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia.

D. Krasnewich, E. Sidransky, N. Tayebi, 2002, American journal of medical genetics.

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

D. Krasnewich, Susan Sparks, Donna M. Krasnewich, 2017 .

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

One is the loneliest number: genotypic matchmaking using the electronic health record

Leigh Anne Tang, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Human glycosylation disorders.

D. Krasnewich, 2014, Cancer biomarkers : section A of Disease markers.

Redox, transferrin-independent, and receptor-mediated endocytosis iron uptake systems in cultured human fibroblasts.

W. Gahl, T. Markello, D. Krasnewich, 1993, The Journal of biological chemistry.

Neurologic Course of Congenital Disorders of Glycosylation

D. Krasnewich, P. Pearl, 2001, Journal of child neurology.

Congenital disorders of glycosylation and intellectual disability.

D. Krasnewich, L. Wolfe, 2013, Developmental disabilities research reviews.

Genetic testing and screening in pediatric populations.

J. Puck, D. Krasnewich, J. Davis, 2000, The Nursing clinics of North America.

Pulsed amperometric detection of carbohydrates in lysosomal storage disease fibroblasts: a new screening technique for carbohydrate storage diseases.

H. Blom, W. Gahl, D. Krasnewich, 1990, Journal of Chromatography A.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.

W. Gahl, M. Dalakas, M. Huizing, 2004, Molecular genetics and metabolism.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Life‐threatening splenic hemorrhage in two patients with Gaucher disease

E. Ginns, D. Krasnewich, E. Sidransky, 2000, American journal of hematology.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

215 – The Lysosomal Storage Diseases

D. Krasnewich, E. Sidransky, 2012 .

Splenectomy in Gaucher disease: new management dilemmas.

E. Ginns, D. Krasnewich, E. Sidransky, 1998, Blood.

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1

W. Gahl, D. Krasnewich, M. Brantly, 1995, Human mutation.

Cystinosis: A Treatable Lysosomal Storage Disease

W. Gahl, D. Krasnewich, 1991 .

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

E. M. DeGennaro, Sarah E. Gould, David R. Murdock, 2023, Proceedings of the National Academy of Sciences of the United States of America.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

VarSight: prioritizing clinically reported variants with binary classification algorithms

Gabor T. Marth, David R. Murdock, Alexander C. Moss, 2019, BMC Bioinformatics.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Matthew H. Brush, Gabor T. Marth, John Arul Phillips, 2019, American journal of human genetics.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Gabor T. Marth, Laurel A. Cobban, Lisa T. Emrick, 2024, American journal of human genetics.

Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.

Z. Quezado, W. Gahl, B. Turkbey, 2010, Clinical journal of the American Society of Nephrology : CJASN.