D. Watkins

发表

Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD‐responsive mutation

R. Rozen, S. Sibani, D. Leclerc, 2003, Human mutation.

Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes

D. Watkins, D. Rosenblatt, J. Gueant, 2022, Human Genetics.

Hereditary defect of cobalamin metabolism (cblG mutation) presenting as a neurologic disorder in adulthood.

D. Watkins, D. Rosenblatt, R. Carmel, 1988, The New England journal of medicine.

The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism.

D. Watkins, D. Rosenblatt, S. Tucci, 2019, Biochimica et biophysica acta. Molecular and cell biology of lipids.

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband

J. Ganesh, J. Orange, J. Majewski, 2011, Journal of Medical Genetics.

Molecular Genetics of Hereditary Folate Malabsorption

D. Watkins, 2016 .

Atypical histiocytic granuloma of the oral mucosa: an unusual clinicopathologic entity simulating malignancy.

D. Watkins, J. Wright, R. Throndson, 2001, Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons.

Confounding factors in identification of disease-resilient individuals

H. Levy, D. Watkins, D. Rosenblatt, 2016, Nature Biotechnology.

Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia.

R. Rozen, V. Meiner, S. Korman, 2014, JAMA Neurology.

A Patient With an Inborn Error of Vitamin B12 Metabolism (cblF) Detected by Newborn Screening

M. Geraghty, D. Watkins, D. Rosenblatt, 2013, Pediatrics.

New insights into the metabolic and nutritional determinants of severe combined immunodeficiency

P. Stover, D. Watkins, D. Rosenblatt, 2015, Rare diseases.

Severe Combined Immunodeficiency Resulting From Mutations in MTHFD1

J. Ganesh, J. Orange, D. Watkins, 2013, Pediatrics.

Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis

P. Stover, D. Watkins, D. Rosenblatt, 2014, Proceedings of the National Academy of Sciences.

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities

Warren A. Cheung, T. Shaikh, T. Pastinen, 2017, Human molecular genetics.

Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism.

I. Miousse, D. Watkins, D. Rosenblatt, 2014, JIMD reports.

Update on transcobalamin deficiency: clinical presentation, treatment and outcome

John J. Mitchell, D. Zafeiriou, B. Echenne, 2014, Journal of Inherited Metabolic Disease.

Inborn errors of cobalamin absorption and metabolism

D. Watkins, D. Rosenblatt, 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia.

N. Mrabet, J. Camadro, D. Watkins, 2013, Human molecular genetics.

Cobalamin and Inborn Errors of Cobalamin Absorption and Metabolism

D. Watkins, D. Rosenblatt, 2001 .

Complementation studies in the cblAclass of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH)

D. Watkins, N. Matiaszuk, D. Rosenblatt, 2000, Journal of medical genetics.

Inherited defects of cobalamin metabolism.

D. Watkins, D. Rosenblatt, 2022, Vitamins and hormones.

Prenatal Diagnosis of Inherited Disorders of Folate and Cobalamin Metabolism

D. Watkins, D. Rosenblatt, 2021 .

Lessons in biology from patients with inborn errors of vitamin B12 metabolism.

D. Watkins, D. Rosenblatt, 2013, Biochimie.

Cobalamin F Disease Detected by Newborn Screening and Follow-up on a 14-Year-Old Patient

M. Shinawi, D. Dietzen, I. Miousse, 2011, Pediatrics.

Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism.

I. Miousse, D. Watkins, D. Rosenblatt, 2011, Molecular genetics and metabolism.

Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin‐bound vitamin B12

S. Fedosov, J. M. Sequeira, E. Quadros, 2010, Human mutation.

Vitamin B12: Disorders of Absorption and Metabolism

D. Watkins, D. Rosenblatt, 2010 .

Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking

C. Ackerley, C. Ross, W. Wasserman, 2014, Orphanet Journal of Rare Diseases.

Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria.

G. Geoffroy, D. Watkins, D. Rosenblatt, 1986, The Journal of pediatrics.

Focal parotid necrosis in systemic lupus erythematosus: case report and review of the literature.

D. Watkins, D. Karakla, J. Carron, 1999, Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics.

A Rare Case of Atypical mycobacterium -associated Spinal Cord Compression in an Hiv-aids Patient

K. Muakkassa, D. Watkins, E. Speakman, 2013 .

Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.

E. Shoubridge, J. Coulton, A. Janer, 2013, Molecular genetics and metabolism.

A critical intracellular concentration of fully reduced non-methylated folate polyglutamates prevents macrocytosis and diminished growth rate of human cell line K562 in culture.

D. Watkins, B. Cooper, 1983, The Biochemical journal.

Update on cobalamin, folate, and homocysteine.

R. Green, D. Watkins, D. Rosenblatt, 2003, Hematology. American Society of Hematology. Education Program.

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

E. Shoubridge, J. Rommens, H. Antonicka, 2006, Nature Genetics.

Vitamins: cobalamin and folate

C. Venditti, D. Watkins, D. Rosenblatt, 2020, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease.

Disorders of Cobalamin and Folate Transport and Metabolism

D. Watkins, D. Rosenblatt, B. Fowler, 2012 .

Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype–phenotype correlations

M. Baumgartner, T. Suormala, T. Pastinen, 2009, Human mutation.

Panniculitis in an immunocompromised patient.

A. Menter, D. Watkins, S. Gilbert, 1991, Journal of the American Academy of Dermatology.

Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity.

D. Watkins, D. Rosenblatt, D. Rosenblatt, 1989, American journal of medical genetics.

Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG.

D. Watkins, D. Rosenblatt, David, 1988, The Journal of clinical investigation.

Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport.

C. Morel, P. Rinaldo, D. Watkins, 2005, Molecular genetics and metabolism.

Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.

L. Wong, D. Watkins, Jing Wang, 2016, Molecular genetics and metabolism.

Allosteric Regulation of Oligomerization by a B12 Trafficking G-Protein Is Corrupted in Methylmalonic Aciduria.

R. Banerjee, G. Campanello, M. Ohi, 2019, Cell chemical biology.

Sacrificial Cobalt-Carbon Bond Homolysis in Coenzyme B12 as a Cofactor Conservation Strategy.

Aditi Gupta, R. Banerjee, G. Dodge, 2018, Journal of the American Chemical Society.

Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.

C. Lee-Messer, G. Enns, J. Bernstein, 2009, The Journal of pediatrics.

Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells

D. Watkins, D. Rosenblatt, B. Cooper, 1990, American journal of hematology.

Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy

Lucas C. Reineke, Matthew C. Hill, Alexander B. Saltzman, 2022, Nature Communications.

Vitamin B(12) and birth defects.

D. Watkins, D. Rosenblatt, Fei Li, 2009, Molecular genetics and metabolism.

Methionine dependence in tumor cells: The potential role of cobalamin and MMACHC.

D. Watkins, D. Rosenblatt, B. Gilfix, 2021, Molecular genetics and metabolism.

Glycine N-methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia

R. Lorini, R. Rozen, G. Minniti, 2001, Journal of Inherited Metabolic Disease.

Defective lysosomal release of vitamin B12 (cb1F): a hereditary cobalamin metabolic disorder associated with sudden death.

D. Watkins, D. Rosenblatt, V. Shih, 1989, American journal of medical genetics.

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

E. Shoubridge, M. Baumgartner, T. Suormala, 2012, Nature Genetics.

Shifting landscapes of human MTHFR missense-variant effects

R. Nussbaum, M. Gebbia, R. Rozen, 2021, American journal of human genetics.

Erratum: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

E. Shoubridge, J. Rommens, H. Antonicka, 2006, Nature Genetics.

Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene

C. Venditti, L. Brody, M. Caggana, 2022, American journal of medical genetics. Part A.

Immunodeficiency and inborn disorders of vitamin B12 and folate metabolism.

D. Watkins, D. Rosenblatt, 2020, Current opinion in clinical nutrition and metabolic care.

Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L.

T. Hudson, B. Ge, T. Wai, 2002, American journal of human genetics.

Update and new concepts in vitamin responsive disorders of folate transport and metabolism

D. Watkins, D. Rosenblatt, 2012, Journal of Inherited Metabolic Disease.

Osteoradionecrosis of the cervical vertebrae and occipital bone: a case report and brief review of the literature.

D. Watkins, D. Karakla, A. Lim, 1999, American journal of otolaryngology.

Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause

J. Rivière, D. Watkins, D. Rosenblatt, 2019, Genetics in Medicine.

Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing.

Y. Chien, J. Majewski, D. Watkins, 2012, Molecular genetics and metabolism.

P100 Embryonal rhabdomyosarcoma of the lung in a child: case report

R. Johnston, D. Watkins, A. Mallappa, 2019, Abstracts.

Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria.

Aaron D. Wilson, S. Scherer, H. Heng, 1998, Proceedings of the National Academy of Sciences of the United States of America.

The molecular basis of glutamate formiminotransferase deficiency

X. Estivill, T. Hudson, R. Mackenzie, 2003, Human mutation.

Lessons in biology from patients with inherited disorders of vitamin B12 and folate metabolism.

D. Watkins, D. Rosenblatt, 2016, Biochimie.

A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

W. Chung, M. Baumgartner, A. Montpetit, 2018, Nature Communications.

Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin‐Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator

Warren A. Cheung, E. Shoubridge, A. Gingras, 2016, Human mutation.

Vitamin B12-responsive megaloblastic anemia, homocystinuria, and transient methylmalonic aciduria in cb1E disease.

M. Tuchman, D. Watkins, D. Rosenblatt, 1988, The Journal of pediatrics.

Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.

P. Harper, M. Upadhyaya, A. Fryer, 1990, Journal of medical genetics.

High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.

C. Wittwer, D. Watkins, D. Rosenblatt, 2013, Molecular genetics and metabolism.

Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy.

D. Watkins, D. Rosenblatt, C. Ficicioglu, 2014, Pediatric neurology.

Linkage analysis of the nail-patella syndrome.

W. Meschino, G. Rouleau, V. D. Der Kaloustian, 1995, American journal of human genetics.

Atypical glomerulopathy associated with the cblE inborn error of vitamin B12 metabolism

P. Kaplan, J. Treat, D. Watkins, 2013, Pediatric Nephrology.

Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency.

D. S. Froese, D. Watkins, D. Rosenblatt, 2020, Molecular genetics and metabolism.

High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria.

C. Wittwer, D. Watkins, D. Rosenblatt, 2012, Molecular genetics and metabolism.

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism

T. Wai, P. Lepage, D. Leclerc, 2004, Human mutation.

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.

T. Shaikh, M. Baumgartner, T. Suormala, 2013, American journal of human genetics.

Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence.

T. Pastinen, D. Watkins, D. Rosenblatt, 2009, Molecular genetics and metabolism.

Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism.

L. Wong, D. Watkins, D. Rosenblatt, 2016, Molecular genetics and metabolism.

Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment

S. McCandless, A. Larson, J. V. Van Hove, 2021, Journal of inherited metabolic disease.

Inherited Defects of Cobalamin Metabolism

D. Watkins, D. Rosenblatt, 2017 .

Cobalamin metabolism in methionine-dependent human tumour and leukemia cell lines.

D. Watkins, 1998, Clinical and investigative medicine. Medecine clinique et experimentale.

Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.

A. Montpetit, P. Lepage, D. Watkins, 2006, Molecular genetics and metabolism.

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment

M. Baumgartner, T. Suormala, E. Holme, 2015, Journal of Inherited Metabolic Disease.

Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause

J. Rivière, D. Watkins, D. Rosenblatt, 2019, Genetics in Medicine.

Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene

S. Lévesque, F. Thuriot, P. Waters, 2016, Molecular genetics and metabolism reports.

Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE)

D. Roquis, D. Watkins, L. Worgan, 2007, Human mutation.

Failure of lysosomal release of vitamin B12: a new complementation group causing methylmalonic aciduria (cblF).

D. Watkins, D. Rosenblatt, 1986, American journal of human genetics.

Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12

M. Baumgartner, D. Trégouët, P. Morange, 2022, Clinical epigenetics.

Vitamin B12 responsive homocystinuria and megaloblastic anemia: heterogeneity in methylcobalamin deficiency.

D. Watkins, D. Rosenblatt, R. Erbe, 1987, American journal of medical genetics.

Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.

N. Longo, D. Leclerc, D. Watkins, 2006, Molecular genetics and metabolism.

Mitochondrial vitamin B12-binding proteins in patients with inborn errors of cobalamin metabolism.

D. Watkins, D. Rosenblatt, A. Hosack, 2007, Molecular genetics and metabolism.

Mutations in the MMAA Gene in Patients With the cblA Disorder of Vitamin B12 Metabolism

T. Wai, P. Lepage, D. Leclerc, 2005 .