D. Valle

发表

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.

M. Baumgartner, S. Almashanu, T. Suormala, 2001, The Journal of clinical investigation.

Completing the map of human genetic variation

D. Altshuler, L. Brooks, N. Carter, 2007, Nature.

Online Mendelian Inheritance In Man (OMIM)

D. Valle, A. F. Scott, J. Amberger, 2000, Human mutation.

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

D. Valle, A. Hamosh, N. Sobreira, 2015, Human mutation.

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.

Karynne E. Patterson, Debra J. H. Mathews, J. Shendure, 2015, American journal of human genetics.

PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features

D. Valle, A. Hamosh, V. Sutton, 2013, Human mutation.

The impact of the Turkish (TK) population variome on the genomic architecture of rare disease traits

C. Shaw, J. Lupski, R. Gibbs, 2020, bioRxiv.

The utility of exome sequencing for fetal pleural effusions

D. Valle, A. Hamosh, N. Sobreira, 2020, Prenatal diagnosis.

Insights into genetics, human biology and disease gleaned from family based genomic studies

M. Gerstein, D. MacArthur, J. Rosenfeld, 2019, Genetics in Medicine.

Identification of STAC3 variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome

D. Valle, E. Jabs, J. Carey, 2017, American journal of medical genetics. Part A.

Sclerocornea in a patient with van den Ende–Gupta syndrome homozygous for a SCARF2 microdeletion

D. Valle, T. de Ravel, I. Casteels, 2014, American journal of medical genetics. Part A.

The Centers for Mendelian Genomics: A new large‐scale initiative to identify the genes underlying rare Mendelian conditions

M. Gerstein, J. Shendure, J. Lupski, 2012, American journal of medical genetics. Part A.

Human disease genes

David Valle, Gerardo Jimenez-Sanchez, Barton Childs, 2001, Nature.

Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation.

C. Obie, D. Valle, D. Labuda, 1991, Proceedings of the National Academy of Sciences of the United States of America.

DNA methylation regulates microRNA expression

D. Valle, Liangfeng Han, S. Sukumar, 2007, Cancer biology & therapy.

A unified nomenclature for peroxisome biogenesis factors

H. Moser, D. Valle, H. Tabak, 1996, The Journal of cell biology.

Peroxisome biogenesis disorders: genetics and cell biology.

D. Valle, S. Gould, Stephen J. Gould, 2000, Trends in genetics : TIG.

Mice lacking ornithine–δ–amino–transferase have paradoxical neonatal hypoornithinaemia and retinal degeneration

D. Valle, A. Milam, G. Steel, 1995, Nature Genetics.

Recurrent DNA inversion rearrangements in the human genome.

David Valle, Teresa Tusie-Luna, Delfino García, 2007 .

Inactivation of the microRNA-183/96/182 cluster results in syndromic retinal degeneration

Peter E. Larsen, D. Zack, D. Valle, 2013, Proceedings of the National Academy of Sciences.

Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation.

D. Valle, S. Antonarakis, C. Boehm, 1989, Molecular biology & medicine.

Phenylketonuria in U.S. blacks: molecular analysis of the phenylalanine hydroxylase gene.

D. Valle, H. Kazazian, G. Steel, 1991, American journal of human genetics.

Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders

H. Moser, A. Moser, D. Valle, 1995, Nature Genetics.

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.

D. Valle, J. Michaud, G. Fontaine, 1992, Genomics.

Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy

D. Valle, Sarah M Robbins, L. Al-Gazali, 2017, Journal of Medical Genetics.

The isolation of cDNAs from OATL1 at Xp 11.2 using a 480-kb YAC.

A. Monaco, D. Valle, H. Lehrach, 1993, Genomics.

A ubiquitin C-terminal hydrolase gene on the proximal short arm of the X chromosome: implications for X-linked retinal disorders.

D. Valle, C. Freund, R. Mcinnes, 1996, Human molecular genetics.

Disorders of peroxisome biogenesis.

D. Valle, David Valle, N. Braverman, 1995, Human molecular genetics.

CHAPTER 24 – PEROXISOMAL ABC TRANSPORTERS

S. Almashanu, D. Valle, 2003 .

Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes

D. Valle, A. Jelin, Sarah M Robbins, 2019, Journal of Assisted Reproduction and Genetics.

Analytical “bake-off” of whole genome sequencing quality for the Genome Russia project using a small cohort for autoimmune hepatitis

S. O’Brien, D. Valle, Minzhong Tang, 2018, PloS one.

Identification of a yeast artificial chromosome (YAC) spanning the synovial sarcoma‐specific t(X;18)(p11.2;q11.2) breakpoint

A. Monaco, D. Valle, H. Lehrach, 1993, Genes, chromosomes & cancer.

Δ3,5-Δ2,4-Dienoyl-CoA Isomerase from Rat Liver

J. Hiltunen, D. Valle, M. Vihinen, 1998, The Journal of Biological Chemistry.

The Deep Genome Project

Steve D. M. Brown, Jacqueline K. White, F. Mammano, 2020, Genome Biology.

Ornithine aminotransferase-related sequences map to two nonadjacent intervals on the human X chromosome short arm.

H. Willard, D. Valle, T. Shows, 1991, Genomics.

Treatment of genetic disease: current status and prospects for the future.

D. Valle, 1991, Seminars in perinatology.

A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy

D. Valle, T. Yuzyuk, K. Lindstrom, 2022, Molecular genetics and metabolism reports.

Mutations in Alström Protein Impair Terminal Differentiation of Cardiomyocytes

L. Fernandez, Chulan Kwon, D. Valle, 2014, Nature Communications.

Ornithine &Aminotransferase Mutations in Gyrate Atrophy

C. Obie, D. Valle, M. Kaiser-Kupfer, 1992 .

Skeletal Dysplasias: Growing Therapy for Growing Bones

D. Valle, J. Hoover-Fong, A. Jelin, 2017, Front. Pharmacol..

An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.

D. Valle, M. Kaiser-Kupfer, G. Mitchell, 1988, The Journal of clinical investigation.

Mutations in the gene encoding 3β-hydroxysteroid-Δ 8,Δ7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

A. Moser, C. Obie, D. Valle, 1999, Nature Genetics.

Transcriptional regulation of the gene for the second component of human complement: Promoter analysis

D. Valle, R. Campbell, K. Sullivan, 1994, European journal of immunology.

The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.

H. Moser, D. Valle, N. Braverman, 1996, The EMBO journal.

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings

D. Valle, N. Sobreira, L. Al-Gazali, 2016, American journal of medical genetics. Part A.

PEX11α Is Required for Peroxisome Proliferation in Response to 4-Phenylbutyrate but Is Dispensable for Peroxisome Proliferator-Activated Receptor Alpha-Mediated Peroxisome Proliferation

D. Valle, Xiaoling Li, G. Jiménez-Sánchez, 2002, Molecular and Cellular Biology.

You give me fever

D. Valle, 1999, Nature Genetics.

PHR1 Encodes an Abundant, Pleckstrin Homology Domain-containing Integral Membrane Protein in the Photoreceptor Outer Segments*

D. Valle, R. Mcinnes, Shunbin Xu, 1999, The Journal of Biological Chemistry.

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

D. Valle, C. Stanley, P. Divry, 1991, Annals of neurology.

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Katherine R. Smith, P. Lockhart, D. Zee, 2019, American journal of human genetics.

Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.

H. Moser, D. Valle, S. Gould, 1998, American journal of human genetics.

Molecular analysis of the third component of canine complement (C3) and identification of the mutation responsible for hereditary canine C3 deficiency.

D. Valle, L. Brody, L. Cork, 1998, Journal of immunology.

Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy.

J. Rapoport, C. Obie, D. Valle, 2015, Current molecular medicine.

Neonatal cholestasis as initial manifestation of type 2 Gaucher disease: a continuum in the spectrum of early onset Gaucher disease.

D. Valle, J. Boitnott, Abdallah F Elias, 2011, JIMD reports.

Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders

H. Moser, D. Valle, S. Gould, 1997, Nature Genetics.

Transcriptional analysis of the human ornithine aminotransferase promoter.

D. Valle, J. Engelhardt, G. Steel, 1991, The Journal of biological chemistry.

Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature

D. Valle, B. Cohen, Sarah M Robbins, 2020, American journal of medical genetics. Part A.

Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing.

D. Valle, A. Hamosh, N. Sobreira, 2011, Genome research.

At least two mutant alleles of ornithine 6-aminotransferase cause gyrate atrophy of the choroid and retina in Finns (RNase A protection/polymerase chain reaction/hyperornithinemia/chorioretinal degeneration/missense mutation)

C. Obie, D. Valle, M. Kaiser-Kupfer, 2016 .

Advances in Brief Proline Oxidase , Encoded by p 53-induced Gene-6 , Catalyzes the Generation of Proline-dependent Reactive Oxygen Species

D. Valle, Chien-An A Hu, J. Phang, 2001 .

A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3.

A. Moser, D. Valle, G. Jiménez-Sánchez, 2015, Human molecular genetics.

A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia

D. Valle, N. Longo, H. Bjornsson, 2022, Journal of inherited metabolic disease.

A mouse model of gyrate atrophy of the choroid and retina. Early retinal pigment epithelium damage and progressive retinal degeneration.

D. Valle, A. Milam, G. Steel, 1996, The Journal of clinical investigation.

Hemolytically inactive C4B complement allotype caused by a proline to leucine mutation in the C5-binding site.

D. Valle, B. Julian, R. Wyatt, 1994, The Journal of biological chemistry.

Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.

C. Obie, D. Valle, K. Schappert, 1995, American journal of human genetics.

Expression of PEX11β Mediates Peroxisome Proliferation in the Absence of Extracellular Stimuli*

C. Obie, D. Valle, G. Jiménez-Sánchez, 1998, The Journal of Biological Chemistry.

Mice lacking ornithine-delta-aminotransferase have paradoxical neonatal hypoornithinaemia and retinal degeneration.

D. Valle, A. Milam, G. Steel, 1995, Nature genetics.

Making evolutionary biology a basic science for medicine

Carl T. Bergstrom, Mark D Schwartz, Peter Gluckman, 2010, Proceedings of the National Academy of Sciences.

An isoform of pex5p, the human PTS1 receptor, is required for the import of PTS2 proteins into peroxisomes.

D. Valle, N. Braverman, S. Gould, 1998, Human molecular genetics.

Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy.

D. Valle, P. Gruppuso, G. Steele, 1990, The New England journal of medicine.

MicroRNA (miRNA) Transcriptome of Mouse Retina and Identification of a Sensory Organ-specific miRNA Cluster*

D. Valle, P. D. Witmer, Shunbin Xu, 2007, Journal of Biological Chemistry.

Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.

M. Baumgartner, S. Almashanu, T. Suormala, 2004, American journal of human genetics.

Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase

D. Valle, F. Ledley, A. Crane, 1992, Human Genetics.

Aspartylglucosaminuria in the United States

D. Valle, R. Stevenson, S. Coker, 1983, Clinical genetics.

Human Δ1-pyrroline-5-carboxylate synthase: function and regulation

D. Valle, Z. Liu, Zhihe Liu, 2008, Amino Acids.

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

H. Moser, A. Moser, C. Obie, 1997, Nature Genetics.

Correction of ornithine accumulation prevents retinal degeneration in a mouse model of gyrate atrophy of the choroid and retina.

D. Valle, A. Milam, G. Steel, 2000, Proceedings of the National Academy of Sciences of the United States of America.

Peroxisome biogenesis disorders.

D. Valle, S. Gould, Sabine Weller, 2003, Annual review of genomics and human genetics.

A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut0 methylmalonic acidemia

D. Valle, N. Miller, C. Venditti, 2014, Journal of Inherited Metabolic Disease.

Gyrate Atrophy of the Choroid and Retina: Lymphocyte Ornithine-δ-Aminotransferase Activity in Different Mutations and Carriers

D. Valle, O. Simell, K. Näntö-Salonen, 1998, Pediatric Research.

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

Alan F. Scott, David Valle, Ada Hamosh, 2002, Nucleic Acids Res..

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

P. K. Chakraborty, H. Moser, A. Moser, 2002, Human mutation.

Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders

H. Moser, D. Valle, S. Gould, 1997, Nature Genetics.

Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome

H. Moser, D. Valle, J. Gärtner, 1992, Nature Genetics.

Identification of a fourth half ABC transporter in the human peroxisomal membrane.

D. Valle, G. Jiménez-Sánchez, N. Shani, 1997, Human molecular genetics.

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome.

A. Moser, C. Obie, D. Valle, 1999, Nature genetics.

Insights into genetics, human biology and disease gleaned from family based genomic studies

M. Gerstein, D. MacArthur, J. Rosenfeld, 2019, Genetics in Medicine.

Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter

S. Almashanu, C. Obie, D. Valle, 1999, Nature Genetics.

Colocalization in pericentral hepatocytes in adult mice and similarity in developmental expression pattern of ornithine aminotransferase and glutamine synthetase mRNA.

J E Darnell, D. Valle, J. Darnell, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Guidelines for investigating causality of sequence variants in human disease

D. G. MacArthur, T. A. Manolio, D. P. Dimmock, 2014, Nature.

Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release.

D. Valle, D. A. Swanson, J. M. Steel, 1998, Genomics.

Mobile Interspersed Repeats Are Major Structural Variants in the Human Genome

D. Valle, J. Boeke, Hongkai Ji, 2010, Cell.

IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease

J. Lupski, S. Jhangiani, D. Valle, 2021, Human Genetics.

Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.

C. Obie, D. Valle, M. Kaiser-Kupfer, 1992, The Journal of biological chemistry.

Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1).

D. Valle, G. Jiménez-Sánchez, J. Gärtner, 1998, Genomics.

Peroxisomal ABC transporters.

S. Almashanu, D. Valle, N. Shani, 1998, Methods in enzymology.

New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web‐Based Tool for Linking Investigators with an Interest in the Same Gene

D. Valle, A. Hamosh, N. Sobreira, 2015, Human mutation.

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

D. Valle, K. Doheny, C. Ladd-Acosta, 2017, European Journal of Human Genetics.

Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.

C. Obie, D. Valle, S. Gould, 2005, American journal of human genetics.

Restoration of PEX2 peroxisome assembly defects by overexpression of PMP70.

C. Obie, D. Valle, P. Watkins, 1998, European journal of cell biology.

Assessment of incidental findings in 232 whole exome sequences from the Baylor-Hopkins Center for Mendelian Genomics

D. Valle, K. Doheny, K. Hetrick, 2014, Genetics in Medicine.

Functional consequences of PRODH missense mutations.

S. Almashanu, D. Valle, A. Willis, 2005, American journal of human genetics.

Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia.

C. Obie, D. Valle, G. Jiménez-Sánchez, 1998, Human molecular genetics.

Cloning and characterization of cDNAs encoding human proline oxidase, the enzyme deficient in type I hyperprolinemia. † 615

D. Valle, Wei-Wen Lin, Chien-An A. Hu, 1997, Pediatric Research.

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Melanie Bahlo, Elsdon Storey, David Valle, 2019, American journal of human genetics.

Functional genomics and SNP analysis of human genes encoding proline metabolic enzymes

D. Valle, Siqin Zhaorigetu, G. Wan, 2008, Amino Acids.

Overexpression of proline oxidase induces proline-dependent and mitochondria-mediated apoptosis

C. Obie, D. Valle, Jian Yu, 2006, Molecular and Cellular Biochemistry.

Type I hyperprolinemia: genotype/phenotype correlations

D. Valle, D. Campion, A. Afenjar, 2010, Human mutation.

PRODH variants and risk for schizophrenia

D. Valle, A. Willis, G. Steel, 2008, Amino Acids.

Ocular histopathologic characteristics of cobalamin C type vitamin B12 defect with methylmalonic aciduria and homocystinuria.

D. Valle, W. Green, E. Traboulsi, 1992, American journal of ophthalmology.

The 70 kDa peroxisomal membrane protein: an ATP-binding cassette transporter protein involved in peroxisome biogenesis.

D. Valle, David Valle, J. Gärtner, 1993, Seminars in cell biology.

Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.

A. Moser, D. Valle, K. Doheny, 2014, American journal of human genetics.

PEX11β Deficiency Is Lethal and Impairs Neuronal Migration but Does Not Abrogate Peroxisome Function

D. Valle, Xiaoling Li, G. Jiménez-Sánchez, 2002, Molecular and Cellular Biology.

Loss of function variants in PCYT1A causing spondylometaphyseal dysplasia with cone/rod dystrophy have broad consequences on lipid metabolism, chondrocyte differentiation, and lipid droplet formation

D. Valle, N. Sobreira, J. Christodoulou, 2019, bioRxiv.

A new complementation assay for peroxisome-deficient cell lines

D. Valle, D. Fitzpatrick, David Fitzpatrick, 1996, Journal of Inherited Metabolic Disease.

Restoration of peroxisome biogenesis in a peroxisome-deficient mammalian cell line by expression of either the 35 kDa or the 70 kDa peroxisomal membrane proteins

C. Obie, D. Valle, P. Watkins, 1994, Journal of Inherited Metabolic Disease.

A Saccharomyces cerevisiae homolog of the human adrenoleukodystrophy transporter is a heterodimer of two half ATP-binding cassette transporters.

D. Valle, N. Shani, David Valle, 1996, Proceedings of the National Academy of Sciences of the United States of America.

An anadysplasia‐like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: Further definition of the phenotypic heterogeneity of LBR‐bone dysplasias

D. Valle, R. Pauli, N. Sobreira, 2015, American journal of medical genetics. Part A.

GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK

D. Valle, N. Sobreira, J. Majewski, 2015, Human mutation.

Cryptic Exon Activation by Disruption of Exon Splice Enhancer

M. Baumgartner, T. Suormala, D. Valle, 2009, The Journal of Biological Chemistry.

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase.

M. Baumgartner, S. Almashanu, C. Obie, 2000, Human molecular genetics.

Lessons learned from the search for genes responsible for rare Mendelian disorders

D. Valle, N. Sobreira, Nara Sobreira, 2016, Molecular genetics & genomic medicine.

LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes

D. Valle, K. Wilson, J. Jurgens, 2017, Front. Genet..

Human ornithine-delta-aminotransferase. cDNA cloning and analysis of the structural gene.

H. Willard, D. Valle, G. Mitchell, 1988, The Journal of biological chemistry.

Characterization and Analysis of Conserved Motifs in a Peroxisomal ATP-binding Cassette Transporter (*)

D. Valle, A. Sapag, N. Shani, 1996, The Journal of Biological Chemistry.

Molecular enzymology of mammalian Delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition.

C. Obie, D. Valle, C Obie, 1999, The Journal of biological chemistry.

Isolation and characterization of rat and human cDNAs encoding a novel putative peroxisomal enoyl-CoA hydratase.

D. Valle, D. Fitzpatrick, E. Germain-Lee, 1995, Genomics.

miRNA mutations are not a common cause of deafness

D. Valle, P. D. Witmer, Shunbin Xu, 2010, American journal of medical genetics. Part A.

Proline oxidase, encoded by p53-induced gene-6, catalyzes the generation of proline-dependent reactive oxygen species.

D. Valle, J Yu, D Valle, 2001, Cancer research.

Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.

D. Valle, M. Marble, J. Kraus, 1994, Human molecular genetics.

The yeast genome — a common currency

D. Valle, D. Bassett, P. Hieter, 1996, Nature Genetics.

Cardiovascular pathologies in mucopolysaccharidosis type VII (Sly Syndrome).

D. Valle, B. Crain, M. Halushka, 2015, Cardiovascular pathology.

PHR1, a PH Domain-Containing Protein Expressed in Primary Sensory Neurons

D. Valle, K. Yau, Yanshu Wang, 2004, Molecular and Cellular Biology.

NVL: a new member of the AAA family of ATPases localized to the nucleus.

C. Obie, D. Valle, E. Germain-Lee, 1997, Genomics.

Δ1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline

M. Baumgartner, D. Valle, D. Rabier, 2005, European Journal of Pediatrics.

CLUSTER OF TRISOMY 13 LIVE BIRTHS

D. Valle, K. Rosenbaum, G. Pai, 1978, The Lancet.

PXA1, a possible Saccharomyces cerevisiae ortholog of the human adrenoleukodystrophy gene.

D. Valle, P. Watkins, N. Shani, 1995, Proceedings of the National Academy of Sciences of the United States of America.

A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.

Stephanie E. Vallee, D. Valle, S. Szelinger, 2016, American journal of human genetics.

A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia

D. Valle, K. Doheny, K. Hetrick, 2016, Leukemia.

Disorders of Ornithine Metabolism

M. Baumgartner, D. Valle, 2012 .

Expression and processing of human ornithine-δ-aminotransferase in Saccharomyces cerevisiae

D. Valle, L. Brody, D. A. Swanson, 1993 .

Disorders of Ornithine and Proline Metabolism

M. Baumgartner, D. Valle, C. Dionisi-Vici, 2016 .

[Hyperornithinemia and gyrate atrophy: ornithine aminotransferase gene error causing a Finnish disease].

D. Valle, G. Mitchell, L. Brody, 1994, Duodecim; laaketieteellinen aikakauskirja.

Cobalamin C defect associated with hemolytic-uremic syndrome.

D. Valle, E. Perlman, M. Geraghty, 1992, The Journal of pediatrics.

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata (RCDP). • 593

H. Moser, A. Moser, C. Obie, 1997, Pediatric Research.

PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.

H. Moser, A. Moser, D. Valle, 2000, Genomics.

From Expressed Sequence Tags to Peroxisome Biogenesis Disorder Genes

D. Valle, N. Braverman, S. Gould, 1996, Annals of the New York Academy of Sciences.

Penetrating the peroxisome

D. Valle, J. Gärtner, 1993, Nature.

Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency.

D. Valle, N. Sobreira, H. Bjornsson, 2019, JIMD reports.

Enhanced conversion of induced neuronal cells (iN cells) from human fibroblasts: Utility in uncovering cellular deficits in mental illness-associated chromosomal abnormalities

Ashley M. Wilson, J. Rapoport, P. Zandi, 2015, Neuroscience Research.

3‐Methylcrotonyl‐CoA carboxylase deficiency: Mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening

M. Baumgartner, T. Suormala, D. Valle, 2005, Human mutation.

A differential hybridization scheme to identify photoreceptor-specific genes.

D. Valle, C. Freund, R. Mcinnes, 1997, Genome research.

Human genome meeting 2016

A. Pang, W. Chung, J. Lupski, 2016, Human Genomics.

Cloning human pyrroline-5-carboxylate reductase cDNA by complementation in Saccharomyces cerevisiae.

D. Valle, M. Brandriss, K. Dougherty, 1992, The Journal of biological chemistry.

Mammalian orthologs of C. elegans unc-119 highly expressed in photoreceptors.

P. Campochiaro, D. Zack, D. Valle, 1998, Investigative ophthalmology & visual science.

Delta3,5-delta2,4-dienoyl-CoA isomerase from rat liver. Molecular characterization.

J. Hiltunen, D. Valle, M. Vihinen, 1998, The Journal of biological chemistry.

PHR1 is a vesicle‐bound protein abundantly expressed in mature olfactory neurons

D. Valle, Shunbin Xu, B. Tan, 2010, The Laryngoscope.

Molecular Enzymology of Mammalian Δ1-Pyrroline-5-carboxylate Synthase

C. Obie, D. Valle, Wei-Wen Lin, 1999, Journal of Biological Chemistry.

Localization of the 70-kDa peroxisomal membrane protein to human 1p21-p22 and mouse 3.

D. Valle, W. Kearns, N. Copeland, 1993, Genomics.

The Metabolic and Molecular Bases of Inherited Disease (Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D., Childs, B., Kinzler, K. W., and Vogelstein, B., eds., 8th ed., McGraw-Hill, New-York, 2001, 7012 p., $550.00)

William, Charles R. Scriver, A. Beaudet, 2004, Biochemistry (Moscow).

Human genome meeting 2016

Kumar Kshitij Patel, A. Pang, W. Chung, 2016, Human Genomics.

PXA1, a putative S. cerevisiae homolog of the human adrenoleukyodystrophy gene

D. Valle, P. Watkins, N. Shani, 1994 .

Making evolutionary biology a basic science for medicine

Carl T. Bergstrom, P. Gluckman, D. Valle, 2010, Proceedings of the National Academy of Sciences.

Targeted Disruption of the 70kDa Peroxisomal Membrane Protein (PMP70) in Mouse Is Associated with an Increase in the Related P70R Protein, Deficiency of Hepatic Glycogen and a Dicarboxylic Aciduria

D. Valle, G. Jiménez-Sánchez, K. Hebron, 1999 .

An S. cerevisiae Peroxisomal Transporter, Orthologous to the Human Adrenoleukodystrophy Protein, Appears to Be a Heterodimer of Two Half ABC Transporters: Pxa1p and Pxa2p

D. Valle, P. Watkins, N. Shani, 1996, Annals of the New York Academy of Sciences.

Validation of new tools to identify expanded repeats: an intronic pentamer expansion in RFC1 causes CANVAS

Melanie Bahlo, Elsdon Storey, David Valle, 2019, bioRxiv.

Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes

D. Valle, A. Jelin, Sarah M Robbins, 2019, Journal of Assisted Reproduction and Genetics.

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

D. Valle, A. Hamosh, F. Schiettecatte, 2015, Human mutation.

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

D. Valle, K. Doheny, C. Ladd-Acosta, 2017, European Journal of Human Genetics.