C. Boerkoel

发表

Analysis of DNA sequence variants detected by high‐throughput sequencing

J. Mullikin, D. Adams, M. Sincan, 2012, Human mutation.

PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases

Michael Brudno, Sergiu Dumitriu, Orion J. Buske, 2015, Human mutation.

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

Damian Smedley, Michael Brudno, Julius O. B. Jacobsen, 2015, Genetics in Medicine.

Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience

D. Smedley, C. Mungall, M. Brudno, 2016, Front. Med..

Gene Clusters, Molecular Evolution and Disease: A Speculation

C. Boerkoel, L. Elizondo, P. Jafar-Nejad, 2009, Current genomics.

Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

J. Lupski, F. Quiocho, C. Boerkoel, 2002, Nature Genetics.

FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?

C. Boerkoel, A. Lehman, J. Mwenifumbo, 2017, American journal of medical genetics. Part A.

Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease

S. Scherer, A. C. Lionel, C. Marshall, 2012, PLoS genetics.

An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia

Yan Huang, Murat Sincan, William A Gahl, 2012, Human mutation.

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

Rena A. Godfrey, Colleen E. Wahl, K. F. Fajardo, 2011, Genetics in Medicine.

Kearns-Sayre syndrome presenting as isolated growth failure

C. Boerkoel, W. Gahl, L. Wolfe, 2013, BMJ Case Reports.

Retroviral transfer of acid alpha-glucosidase cDNA to enzyme-deficient myoblasts results in phenotypic spread of the genotypic correction by both secretion and fusion.

J. Yewdell, C. Boerkoel, F. Candotti, 1997, Human gene therapy.

ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13

V. Maduro, C. Toro, C. Boerkoel, 2017, PLoS genetics.

Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

K. F. Fajardo, J. Mullikin, M. Sincan, 2013, Neuromuscular Disorders.

Glycosylation, hypogammaglobulinemia, and resistance to viral infections.

M. Hegde, T. Chun, J. Justement, 2014, The New England journal of medicine.

Congenital Bilateral Retinal Detachment in Two Siblings with Osteoporosis-Pseudoglioma Syndrome

C. Boerkoel, R. Rupps, J. Robitaille, 2015, Ophthalmic genetics.

Molecular Mechanisms for CMT1A Duplication and HNPP Deletion

J. Lupski, C. Boerkoel, L. Reiter, 1999, Annals of the New York Academy of Sciences.

Chromatin remodeling and human disease.

C. Boerkoel, E. Sloan, Cheng Huang, 2003, Current opinion in genetics & development.

Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

C. Schwartz, C. Boerkoel, W. Gahl, 2017, Nature Communications.

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

J. Charrow, C. Boerkoel, E. Lerut, 2016, Orphanet Journal of Rare Diseases.

The NIH Undiagnosed Diseases Program: bonding scientists and clinicians

C. Boerkoel, W. Gahl, M. Boehm, 2012, Disease Models & Mechanisms.

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation

M. Sincan, C. Boerkoel, W. Gahl, 2013, European Journal of Human Genetics.

An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?

Steven J. M. Jones, C. Boerkoel, J. Ashkani, 2021, American journal of medical genetics. Part A.

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs

P. Stankiewicz, P. Szafranski, J. Lupski, 2016, American journal of medical genetics. Part A.

A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.

B. Xia, R. Cummings, M. Hegde, 2016, Clinical chemistry.

A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation Including Asparagine-Linked Glycosylation Protein 1 , Phosphomannomutase 2 , and Phosphomannose Isomerase Deficiencies

B. Xia, R. Cummings, M. Hegde, 2015 .

Association of migraine‐like headaches with Schimke immuno‐osseous dysplasia

I. Kaitila, C. Boerkoel, D. Milford, 2005, American journal of medical genetics. Part A.

Characterization of a new X‐linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus

A. Rump, K. Poskitt, C. Boerkoel, 2009, American journal of medical genetics. Part A.

NSDHL-Related Disorders

K. Grzeschik, C. Boerkoel, F. Raymond, 2015 .

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability

Barbara N. Pusey, Marjolaine M. Limbos, P. Stankiewicz, 2016, Orphanet Journal of Rare Diseases.

Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

H. Freeze, D. Adams, C. Boerkoel, 2016, American journal of human genetics.

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study

Phillip A. Richmond, W. Wasserman, C. Boerkoel, 2022, HGG advances.

Somatic mosaicism detected by genome-wide sequencing in 500 parent–child trios with suspected genetic disease: clinical and genetic counseling implications

C. Boerkoel, M. Demos, H. Gill, 2021, Cold Spring Harbor molecular case studies.

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

J. Charrow, C. Boerkoel, D. Lewis, 2012, Orphanet Journal of Rare Diseases.

Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature

R. Weksberg, D. Geary, I. Kaitila, 2000, European Journal of Pediatrics.

Spinocerebellar Ataxia with Axonal Neuropathy (SCAN1): A Disorder of Nuclear and Mitochondrial DNA Repair

C. Boerkoel, M. Chowdhury, Hok Khim Fam, 2012 .

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

Allen D. Delaney, M. Marra, A. Delaney, 2009, BMC Genomics.

Hypothesis: SLC12A3 Polymorphism modifies thiazide hypersensitivity of antenatal Bartter syndrome to thiazide resistance.

C. Boerkoel, R. Rupps, C. Mammen, 2012, European journal of medical genetics.

Alström syndrome: further evidence for linkage to human chromosome 2p13

R. Weksberg, J. Naggert, C. Boerkoel, 1999, Human Genetics.

Beckwith–Wiedemann syndrome in sibs discordant for IC2 methylation

R. Weksberg, C. Boerkoel, S. Choufani, 2012, American journal of medical genetics. Part A.

Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz–Jeghers syndrome?

Phillip A. Richmond, C. Boerkoel, P. Cherukuri, 2022, American journal of medical genetics. Part A.

Can leaky splicing and evasion of premature termination codon surveillance contribute to the phenotypic variability in Alkuraya-Kucinskas syndrome?

C. Boerkoel, A. Lehman, S. Turvey, 2022, European journal of medical genetics.

Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with KRIT1‐related disease

C. Boerkoel, Stephanie Huynh, H. Chin, 2021, American journal of medical genetics. Part A.

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

J. Lupski, C. Boerkoel, L. Potocki, 2003, Brain : a journal of neurology.

Periaxin mutations cause recessive Dejerine-Sottas neuropathy.

P. Stankiewicz, J. Lupski, C. Boerkoel, 2001, American journal of human genetics.

The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy

J. Lupski, C. Boerkoel, H. Takashima, 2002, Current neurology and neuroscience reports.

CMT4A: Identification of a Hispanic GDAP1 founder mutation

J. Lupski, C. Boerkoel, M. Nakagawa, 2003, Annals of neurology.

Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy

J. Lupski, C. Boerkoel, H. Takashima, 2001, Genetics in Medicine.

Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy

A. Monaco, J. Lupski, C. Boerkoel, 2001, Neurogenetics.

Periaxin mutations cause recessive Dejerine-Sottas neuropathy.

S M Leber, P. Stankiewicz, J. Lupski, 2001, American journal of human genetics.

An approach to rapid characterization of DMD copy number variants for prenatal risk assessment

Steven J. M. Jones, C. Boerkoel, P. Eydoux, 2021, American journal of medical genetics. Part A.

Expression profile and mitochondrial colocalization of Tdp1 in peripheral human tissues

C. Boerkoel, K. Choi, G. Hendson, 2013, Journal of Molecular Histology.

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia

Rosanna Weksberg, Pawel Stankiewicz, Hiroshi Takashima, 2002, Nature Genetics.

Schimke Immunoosseous Dysplasia

D. Lewis, C. Boerkoel, T. Lücke, 2016 .

Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).

C. Boerkoel, D. Lewis, A. Baradaran‐Heravi, 2015, Clinical immunology.

Bone marrow transplantation in Schimke immuno‐osseous dysplasia

C. Boerkoel, A. Baradaran‐Heravi, P. Cochat, 2013, American journal of medical genetics. Part A.

SMARCAL1 deficiency predisposes to non‐Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo

R. Weksberg, M. Shago, C. Boerkoel, 2012, American journal of medical genetics. Part A.

Dental Abnormalities in Schimke Immuno-osseous Dysplasia

J. Charrow, C. Boerkoel, D. Lewis, 2012, Journal of dental research.

Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia

C. Boerkoel, T. Seeman, E. Levtchenko, 2011, Pediatric rheumatology online journal.

SMARCAL1 and replication stress

C. Boerkoel, D. Cortez, Carol E. Bansbach, 2010 .

SMARCAL1 and replication stress: an explanation for SIOD?

C. Boerkoel, D. Cortez, Carol E. Bansbach, 2010, Nucleus.

Improved outcome with immunosuppressive monotherapy after renal transplantation in Schimke‐immuno‐osseous dysplasia

C. Boerkoel, J. Ehrich, L. Pape, 2009, Pediatric transplantation.

Cerebellar atrophy in Schimke‐immuno‐osseous dysplasia

F. Donnerstag, C. Boerkoel, M. Knauth, 2007, American journal of medical genetics. Part A.

Schimke immunoosseous dysplasia: suggestions of genetic diversity

C. Cancrini, C. Boerkoel, J. Ehrich, 2007, Human mutation.

Schimke Versus Non-Schimke Chronic Kidney Disease: An Anthropometric Approach

C. Boerkoel, J. Ehrich, A. Das, 2006, Pediatrics.

Schimke immuno‐osseous dysplasia: A cell autonomous disorder?

C. Boerkoel, L. Elizondo, D. Armstrong, 2006, American journal of medical genetics. Part A.

Schimke‐immuno‐osseous dysplasia: New mutation with weak genotype–phenotype correlation in siblings

C. Boerkoel, J. Ehrich, A. Das, 2005, American journal of medical genetics. Part A.

Fatal lymphoproliferative disorder in a child with Schimke immuno‐osseous dysplasia

C. Boerkoel, J. Balfe, E. Sloan, 2004, American journal of medical genetics. Part A.

Detecting false‐positive signals in exome sequencing

Murat Sincan, David Adams, Christopher E Mason, 2012, Human mutation.

Genetic defects in patients with glycogenosis type II (acid maltase deficiency)

C. Boerkoel, N. Raben, P. Plotz, 1995, Muscle & nerve. Supplement.

The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.

Julius O. B. Jacobsen, D. Smedley, L. Prentice, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Minimal genotype–phenotype correlation for small deletions within distal 1p36

C. Boerkoel, C. du Souich, A. Buck, 2011, American journal of medical genetics. Part A.

Molecular mechanisms for CMT1A duplication and HNPP deletion.

J. Lupski, C. Boerkoel, L. Reiter, 1999, Annals of the New York Academy of Sciences.

Periaxin mutations cause a broad spectrum of demyelinating neuropathies

J. Lupski, P. Brophy, C. Boerkoel, 2002, Annals of neurology.

Phenotype Ontologies Traversing All The Organisms (POTATO) workshop aims to reconcile logical definitions across species. Workshop Report

Melissa Haendel, Anne E. Thessen, James P. Balhoff, 2018 .

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

W. V. So, J. Naggert, C. Boerkoel, 2002, Nature Genetics.

Expression profile of NSDHL in human peripheral tissues

C. Boerkoel, J. Trinh, G. Hendson, 2011, Journal of Molecular Histology.

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

Damian Smedley, Cheng-Kang Hsieh, Karen Xu, 2017, Front. Med..

The practice of genomic medicine: A delineation of the process and its governing principles

L. Prentice, C. Boerkoel, S. Langlois, 2023, Frontiers in Medicine.

Clinical and genetic distinction of Schimke immuno‐osseous dysplasia and cartilage‐hair hypoplasia

I. Kaitila, C. Boerkoel, A. Baradaran‐Heravi, 2008, American journal of medical genetics. Part A.

Fetal alcohol syndrome: a phenocopy of spondylocarpotarsal synostosis syndrome?

C. Boerkoel, D. Krakow, R. Rupps, 2010, Clinical dysmorphology.

Schimke immunoosseous dysplasia: defining skeletal features

C. Boerkoel, D. Bonneau, S. Smithson, 2009, European Journal of Pediatrics.

Pan‐cancer RNA‐seq data stratifies tumours by some hallmarks of cancer

C. Boerkoel, P. Cherukuri, F. G. Frost, 2019, Journal of cellular and molecular medicine.

Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg–Hirschsprung disease: Phenotypes linked by SOX10 mutation

J. Lupski, K. Shilo, C. Boerkoel, 2002, Annals of neurology.

1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.

William A Gahl, Carla Ciccone, Marjan Huizing, 2013, Clinical journal of the American Society of Nephrology : CJASN.

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

Steven J. M. Jones, Ryan D. Morin, Richard A. Moore, 2010, American journal of human genetics.

Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.

C. Boerkoel, N. Raben, F. Miller, 1995, American journal of human genetics.

4q12–4q21.21 deletion genotype–phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency

C. Boerkoel, P. Hemati, C. du Souich, 2015, American journal of medical genetics. Part A.

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.

C. Toro, C. Boerkoel, W. Gahl, 2015, Molecular genetics and metabolism.

The Role of Nuclear Bodies in Gene Expression and Disease

C. Boerkoel, M. Morimoto, 2013, Biology.

Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.

D. Horn, X. Wang, C. Saunders, 2019, American journal of human genetics.

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.

L. Shaffer, P. Stankiewicz, J. Lupski, 2002, Genome research.

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Tudor Groza, Damian Smedley, Peter N. Robinson, 2018, Nucleic Acids Res..

Charcot‐Marie‐Tooth disease and related neuropathies: Mutation distribution and genotype‐phenotype correlation

J. Lupski, C. Boerkoel, M. Scavina, 2002, Annals of neurology.

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine

Stephen F Traynelis, William A Gahl, David R Adams, 2014, Annals of clinical and translational neurology.

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.

K. F. Fajardo, J. Snyder, D. Kerr, 2014, Molecular genetics and metabolism.

EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy

J. Lupski, C. Boerkoel, C. Bacino, 2001, Neurogenetics.

Overexpression screens identify conserved dosage chromosome instability genes in yeast and human cancer

Yi Kan Wang, B. Andrews, S. Shah, 2016, Proceedings of the National Academy of Sciences.

Methylation profiling in individuals with Russell–Silver syndrome

C. Boerkoel, S. Langlois, D. Metzger, 2010, American journal of medical genetics. Part A.

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

Steven J. M. Jones, M. Marra, K. Mungall, 2017, BMC Genomics.

Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome

V. Maduro, C. Schwartz, D. Adams, 2015, Orphanet Journal of Rare Diseases.

VAR‐MD: A tool to analyze whole exome–genome variants in small human pedigrees with mendelian inheritance

Murat Sincan, William A Gahl, David Adams, 2012, Human mutation.

Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.

Yan Huang, Thomas Lücke, Joanna Lubieniecka, 2012, Human molecular genetics.

Long‐read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia

Steven J. M. Jones, C. Boerkoel, Luka Culibrk, 2022, American journal of medical genetics. Part A.

Advances in chromatin remodeling and human disease.

C. Boerkoel, K. Cho, L. Elizondo, 2004, Current opinion in genetics & development.

The Human Phenotype Ontology in 2017

Tudor Groza, Damian Smedley, Peter N. Robinson, 2016, Nucleic Acids Res..

Functional Analysis of a De Novo GRIN2A Missense Mutation Associated with Early-onset Epileptic Encephalopathy

D. Adams, T. Pierson, C. Boerkoel, 2014, Nature Communications.

The implications of familial incidental findings from exome sequencing: The NIH Undiagnosed Diseases Program experience

Rena A. Godfrey, Colleen E. Wahl, D. Adams, 2014, Genetics in Medicine.

Systematic over-expression screens for chromosome instability identify conserved dosage chromosome instability genes in yeast and human tumors

B. Andrews, S. Shah, P. Hieter, 2016, bioRxiv.

A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature

C. Boerkoel, W. Robinson, P. Eydoux, 2014, American journal of medical genetics. Part A.

Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse.

C. Boerkoel, G. Herman, K. McLarren, 2009, Molecular genetics and metabolism.

Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function.

Murat Sincan, William A Gahl, David Adams, 2012, Molecular genetics and metabolism.

Neurologic Phenotype of Schimke Immuno-Osseous Dysplasia and Neurodevelopmental Expression of SMARCAL1

S. Willaime-Morawek, D. van der Kooy, H. Okano, 2008, Journal of neuropathology and experimental neurology.

A novel syndrome with psychiatric features and review of malformation syndromes with psychiatric disorders

C. Boerkoel, C. du Souich, J. Austin, 2009, American journal of medical genetics. Part A.

Correction: Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease

S. Scherer, A. C. Lionel, C. Marshall, 2013, PLoS Genetics.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Justyna A. Karolak, H. Mefford, W. Chung, 2019, American journal of human genetics.

Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Disease Program experience

D. Adams, M. Sincan, C. Boerkoel, 2016, Genetics in Medicine.

Spinocerebellar ataxia with axonal neuropathy.

Kimiyoshi Arimura, Hiroshi Takashima, J. Champoux, 2010, Advances in experimental medicine and biology.

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Barbara N. Pusey, Janice S. Lee, A. V. Vulto-van Silfhout, 2015, American journal of human genetics.

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.

Glycomics in rare diseases: from diagnosis tomechanism

C. Toro, C. Boerkoel, C. Tifft, 2019, Translational research : the journal of laboratory and clinical medicine.

Abnormal glycosylation in Joubert syndrome type 10

C. Boerkoel, W. Gahl, M. Davids, 2017, Cilia.

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration

C. Toro, C. Boerkoel, W. Gahl, 2015, Journal of Medical Genetics.

Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data

J. Mullikin, V. Maduro, D. Adams, 2015, BMC Genomics.

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.

Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in China

C. Toro, C. Boerkoel, C. Tifft, 2013, Frontiers of Medicine.

Chromatin changes in SMARCAL1 deficiency: A hypothesis for the gene expression alterations of Schimke immuno-osseous dysplasia

C. Boerkoel, K. Cho, K. Choi, 2016, Nucleus.

Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastogenesis in Schimke immuno-osseous dysplasia

R. Weksberg, C. Boerkoel, D. Parham, 2015, Pediatric Research.

Insights into the Renal Pathogenesis in Schimke Immuno-Osseous Dysplasia

C. Boerkoel, I. Alexopoulou, N. Rosenblum, 2015, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma

M Nakagawa, J. Lupski, C. Boerkoel, 2004, Neurology.

TDP1 and PARP1 Deficiency Are Cytotoxic to Rhabdomyosarcoma Cells

M. O'sullivan, G. Turashvili, S. Aparicio, 2013, Molecular Cancer Research.

NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules

J. Mullikin, C. Boerkoel, W. Gahl, 2011, Nature Genetics.

Identification of a Putative Tdp1 Inhibitor (CD00509) by in Vitro and Cell-Based Assays

Steven J. M. Jones, C. Boerkoel, Jianghong An, 2014, Journal of biomolecular screening.

MED23‐associated intellectual disability in a non‐consanguineous family

Yan Huang, William A Gahl, Gilbert Vezina, 2015, American journal of medical genetics. Part A.

Human isoleucyl-tRNA synthetase: sequence of the cDNA, alternative mRNA splicing, and the characteristics of an unusually long C-terminal extension.

C. Boerkoel, N. Raben, P. Plotz, 1995, Gene.

Spinocerebellar ataxia with axonal neuropathy.

C. Boerkoel, R. Hirano, M. Salih, 2010, Advances in experimental medicine and biology.

Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia.

C. Boerkoel, U. Yiş, A. Polat, 2015, The Turkish journal of pediatrics.

An explanation for SIOD

C. Boerkoel, D. Cortez, Carol E. Bansbach, 2010 .

Lack of IL-7 Receptor Alpha Chain (CD127) Expression In T Cells Is a Hallmark of T-Cell Immunodeficiency In Schimke Immuno-Osseous Dysplasia (SIOD)

D. Lewis, C. Boerkoel, A. Baradaran‐Heravi, 2010 .

Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis

Nancy F. Hansen, J. Mullikin, N. Hansen, 2012, Neurology.

Phenotypic evolution of UNC80 loss of function

V. Maduro, D. Adams, C. Toro, 2016, American journal of medical genetics. Part A.

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination

A. Vanderver, C. Boerkoel, C. Tifft, 2014, American journal of medical genetics. Part A.

Reactive oxygen species stress increases accumulation of tyrosyl-DNA phsosphodiesterase 1 within mitochondria

C. Boerkoel, K. Choi, C. Lim, 2018, Scientific Reports.

Gray matter heterotopias and brachytelephalangic chondrodysplasia punctata: A complication of hyperemesis gravidarum induced vitamin K deficiency?

N. Brunetti‐Pierri, C. Boerkoel, J. Hunter, 2007, American journal of medical genetics. Part A.

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.

Jill A. Madden, P. Grant, A. O’Donnell-Luria, 2021, American journal of human genetics.

Cell Death and Survival TDP 1 and PARP 1 De fi ciency Are Cytotoxic to Rhabdomyosarcoma Cells

M. O'sullivan, G. Turashvili, S. Aparicio, 2013 .

Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering.

D. Adams, C. Boerkoel, W. Gahl, 2012, Molecular genetics and metabolism.

Snyder-Robinson Syndrome

R. Stevenson, C. Schwartz, C. Boerkoel, 2013 .

Plain-language medical vocabulary for precision diagnosis

Tudor Groza, Michael Bamshad, Chris Mungall, 2018, Nature Genetics.

Phenotypic and molecular characterization of a novel DCX deletion and a review of the literature

C. Boerkoel, R. Rupps, C. du Souich, 2009, Clinical genetics.

NOTCH1 loss of the TAD and PEST domain: An antimorph?

C. Boerkoel, A. Lehman, Stephanie Huynh, 2023, American Journal of Medical Genetics Part A.

NOTCH1 loss of the TAD and PEST domain: An antimorph?

C. Boerkoel, A. Lehman, Stephanie Huynh, 2023, American journal of medical genetics. Part A.

Reactive oxygen species stress increases accumulation of tyrosyl-DNA phsosphodiesterase 1 within mitochondria

C. Boerkoel, K. Choi, C. Lim, 2018, Scientific Reports.

Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders

M. Marra, C. Boerkoel, M. Demos, 2014, Orphanet Journal of Rare Diseases.

Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets

Cornelius F. Boerkoel, Lynn K. Carmichael, Catherine Hajek, 2021, BMC medical genomics.

Expression profile of NSDHL in human peripheral tissues

C. Boerkoel, J. Trinh, G. Hendson, 2012, Journal of Molecular Histology.

Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration

Murat Sincan, Nancy F. Hansen, William A Gahl, 2011, European Journal of Human Genetics.

Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data

J. Mullikin, V. Maduro, D. Adams, 2015, BMC Genomics.

Table 2. [SMS Pathogenic Variants Discussed in This GeneReview].

Jessica Albert, Charles E. Schwartz, Cornelius F. Boerkoel, 2013 .

Staphylococcal food poisoning.

A. L. Wong, J. Gécz, M. Rietschel, 2002 .

Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia

C. Boerkoel, T. Seeman, E. Levtchenko, 2011, Pediatric rheumatology online journal.

Expression profile and mitochondrial colocalization of Tdp1 in peripheral human tissues

C. Boerkoel, K. Choi, G. Hendson, 2013, Journal of Molecular Histology.

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

Rena A. Godfrey, Colleen E. Wahl, K. F. Fajardo, 2011, Genetics in Medicine.

Systematic Identification and Definition of Consistently Well-Characterized Protein-Coding Exons Using Next Generation Sequencing Technology

K. F. Fajardo, M. Sincan, C. Boerkoel, 2013 .

Glycosylation, hypogammaglobulinemia, and resistance to viral infections.

M. Hegde, T. Chun, J. Justement, 2014, The New England journal of medicine.

Sitosterolemia

A. L. Wong, J. Gécz, A. Pitkänen, 2020, Definitions.

1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.

K. Yasuda, C. Boerkoel, W. Gahl, 2013, Clinical journal of the American Society of Nephrology : CJASN.

Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).

C. Boerkoel, K. Choi, T. Hunley, 2015, Clinical immunology.

Bone marrow transplantation in Schimke immuno‐osseous dysplasia

C. Boerkoel, P. Cochat, Y. Asakura, 2013, American journal of medical genetics. Part A.

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

M. Marra, K. Mungall, Hye-Jung E. Chun, 2017, BMC Genomics.

Are CUL3 variants an underreported cause of congenital heart disease?

C. Boerkoel, G. Hendson, Daniela Di Francesco, 2023, American journal of medical genetics. Part A.

Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis

C. Boerkoel, Loryn Byres, Stephanie Huynh, 2024, American journal of medical genetics. Part A.

Coffin‐Siris syndrome: Phenotypic evolution of a novel SMARCA4 mutation

C. Boerkoel, C. du Souich, Michael Tzeng, 2014, American journal of medical genetics. Part A.

Sialic Acid Storage Disease

M. Rietschel, M. Vinceti, A. Pitkänen, 2020, Definitions.

Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

H. Freeze, D. Adams, C. Boerkoel, 2016, American journal of human genetics.