Lawrence J Jennings

  • 1095 Citations
19972019
If you made any changes in Pure, your changes will be visible here soon.

Research Output 1997 2019

2019
1 Citation (Scopus)
Acute Promyelocytic Leukemia
Epigenomics
Mutation
Genes
Chromatin

Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members

Sivan, Y., Zhou, A., Jennings, L. J., Berry-Kravis, E. M., Yu, M., Zhou, L., Rand, C. M. & Weese-Mayer, D. E., Mar 1 2019, In : American Journal of Medical Genetics, Part A. 179, 3, p. 503-506 4 p.

Research output: Contribution to journalArticle

Homeobox Genes
Hypoventilation
Mutation
Autonomic Nervous System
Rare Diseases

Ewing sarcoma with myxoid stroma: Case report of an unusual histological variant

Alexiev, B. A., Obeidin, F. & Jennings, L. J., Jan 1 2019, (Accepted/In press) In : Pathology Research and Practice. 152665.

Research output: Contribution to journalArticle

Ewing's Sarcoma
Neoplasms
Temporal Bone
Growth
Sarcoma

Sinonasal glomangiopericytoma: A clinicopathologic study

Obeidin, F., Jennings, L. J. & Alexiev, B. A., May 1 2019, In : Pathology Research and Practice. 215, 5, p. 983-987 5 p.

Research output: Contribution to journalArticle

Catenins
Paranasal Sinuses
Nasal Cavity
Cyclin D1
Smooth Muscle
2018
4 Citations (Scopus)

CD4 T cell–restricted IL-2 signaling defect in a patient with a novel IFNGR1 deficiency

Khanolkar, A., Kirschmann, D. A., Caparelli, E. A., Wilks, J. D., Cerullo, J. M., Bergerson, J. R. E., Jennings, L. J. & Fuleihan, R. L., Jan 1 2018, In : Journal of Allergy and Clinical Immunology. 141, 1, p. 435-439.e7

Research output: Contribution to journalArticle

Interleukin-2
T-Lymphocytes

Characterization of 108 Genomic DNA Reference Materials for 11 Human Leukocyte Antigen Loci: A GeT-RM Collaborative Project

Bettinotti, M. P., Ferriola, D., Duke, J. L., Mosbruger, T. L., Tairis, N., Jennings, L. J., Kalman, L. V. & Monos, D., Sep 1 2018, In : Journal of Molecular Diagnostics. 20, 5, p. 703-715 13 p.

Research output: Contribution to journalArticle

Genetic Testing
HLA Antigens
DNA
National Institute of General Medical Sciences (U.S.)
Histocompatibility Antigens Class I
1 Citation (Scopus)

Comparative performance of breast cancer human epidermal growth factor receptor 2 fluorescence in situ hybridization and brightfield in situ hybridization on college of American pathologists proficiency tests

Geiersbach, K. B., Bridge, J. A., Dolan, M., Jennings, L. J., Persons, D. L., Souers, R. J., Tsuchiya, K. D., Vasalos, P. H. & Moncur, J. T., Oct 1 2018, In : Archives of Pathology and Laboratory Medicine. 142, 10, p. 1254-1259 6 p.

Research output: Contribution to journalArticle

Fluorescence In Situ Hybridization
In Situ Hybridization
Breast Neoplasms
Cell Count
human ERBB2 protein
1 Citation (Scopus)

Malignant Ectomesenchymoma: Series Analysis of a Histologically and Genetically Heterogeneous Tumor

Griffin, B. B., Chou, P. M., George, D., Jennings, L. J. & Arva, N. C., May 1 2018, In : International Journal of Surgical Pathology. 26, 3, p. 200-212 13 p.

Research output: Contribution to journalArticle

Alveolar Rhabdomyosarcoma
Primitive Neuroectodermal Tumors
Neoplasms
Embryonal Rhabdomyosarcoma
Pediatrics
1 Citation (Scopus)

Pathology of melanotic schwannoma

Alexiev, B. A., Chou, P. M. & Jennings, L. J., Dec 1 2018, In : Archives of Pathology and Laboratory Medicine. 142, 12, p. 1517-1523 7 p.

Research output: Contribution to journalArticle

Neurilemmoma
Pathology
Nerve Sheath Neoplasms
Melanins
Neoplasms
8 Citations (Scopus)

The classification of pediatric and young adult renal cell carcinomas registered on the children's oncology group (COG) protocol AREN03B2 after focused genetic testing

Cajaiba, M. M., Dyer, L. M., Geller, J. I., Jennings, L. J., George, D., Kirschmann, D., Rohan, S. M., Cost, N. G., Khanna, G., Mullen, E. A., Dome, J. S., Fernandez, C. V. & Perlman, E. J., Aug 1 2018, In : Cancer. 124, 16, p. 3381-3389 9 p.

Research output: Contribution to journalArticle

Genetic Testing
Renal Cell Carcinoma
Young Adult
Pediatrics
Microphthalmia-Associated Transcription Factor
8 Citations (Scopus)

Worldwide frequency of commonly detected EGFR mutations

Graham, R. P., Treece, A. L., Lindeman, N. I., Vasalos, P., Shan, M., Jennings, L. J. & Rimm, D. L., Feb 1 2018, In : Archives of Pathology and Laboratory Medicine. 142, 2, p. 163-167 5 p.

Research output: Contribution to journalArticle

Epidermal Growth Factor Receptor
Mutation
Mutation Rate
Exons
South America
2017
6 Citations (Scopus)

A window into clinical next-generation sequencing-based oncology testing practices

Nagarajan, R., Bartley, A. N., Bridge, J. A., Jennings, L. J., Kamel-Reid, S., Kim, A., Lazar, A. J., Lindeman, N. I., Moncur, J., Rai, A. J., Routbort, M. J., Vasalos, P. & Merker, J. D., Dec 1 2017, In : Archives of Pathology and Laboratory Medicine. 141, 12, p. 1679-1685 7 p.

Research output: Contribution to journalArticle

Precision Medicine
Neoplasms
Nucleotides
Surveys and Questionnaires
Pathologists
2 Citations (Scopus)

BRAF exon 15 mutations in pediatric renal stromal tumors: prevalence in metanephric stromal tumors

Marsden, L., Jennings, L. J., Gadd, S. L., Yu, M., Perlman, E. J. & Cajaiba, M. M., Feb 1 2017, In : Human pathology. 60, p. 32-36 5 p.

Research output: Contribution to journalArticle

Exons
Pediatrics
Kidney
Mutation
Neoplasms
3 Citations (Scopus)

Clinical and Electroencephalographic Characteristics of Infantile-Onset Epilepsies Caused by Genetic Mutations

Hur, Y. J., Koh, S., Millichap, J. J., Nangia, S., Jennings, L. J. & Nordli, D. R., May 1 2017, In : Journal of Pediatrics. 184, p. 172-177.e1

Research output: Contribution to journalArticle

Electroencephalography
Epilepsy
Mutation
Genetic Testing
Encephalomalacia
1 Citation (Scopus)

Early mixed T-cell chimerism is predictive of pediatric AML or MDS relapse after hematopoietic stem cell transplant

Broglie, L., Helenowski, I., Jennings, L. J., Schafernak, K., Duerst, R. E., Schneiderman, J., Tse, W. T., Kletzel, M. & Chaudhury, S., Sep 1 2017, In : Pediatric Blood and Cancer. 64, 9, e26493.

Research output: Contribution to journalArticle

Chimerism
Myelodysplastic Syndromes
Hematopoietic Stem Cells
Acute Myeloid Leukemia
Hematopoietic Stem Cell Transplantation
90 Citations (Scopus)

Guidelines for Validation of Next-Generation Sequencing–Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists

Jennings, L. J., Arcila, M. E., Corless, C., Kamel-Reid, S., Lubin, I. M., Pfeifer, J., Temple-Smolkin, R. L., Voelkerding, K. V. & Nikiforova, M. N., May 1 2017, In : Journal of Molecular Diagnostics. 19, 3, p. 341-365 25 p.

Research output: Contribution to journalReview article

Molecular Pathology
Joints
Guidelines
Practice Guidelines
Quality Control
1 Citation (Scopus)
Papillary Cystadenoma
Parotid Gland
Oxyphil Cells
Neoplasms
Gene Rearrangement
2 Citations (Scopus)

Reporting results of molecular tests: A retrospective examination of BRAF mutation reporting

Treece, A. L., Gulley, M. L., Vasalos, P., Paquette, C., Lindeman, N. I., Jennings, L. J. & Bartley, A. N., May 1 2017, In : Archives of Pathology and Laboratory Medicine. 141, 5, p. 658-665 8 p.

Research output: Contribution to journalArticle

Mutation
Language Development
Molecular Pathology
Patient Care
Growth
2016
19 Citations (Scopus)

ALK-rearranged renal cell carcinomas in children

Cajaiba, M. M., Jennings, L. J., Rohan, S. M., Perez-Atayde, A. R., Marino-Enriquez, A., Fletcher, J. A., Geller, J. I., Carlson, K., Bridge, J. A. & Perlman, E. J., May 1 2016, In : Genes Chromosomes and Cancer. 55, 5, p. 442-451 10 p.

Research output: Contribution to journalArticle

Renal Cell Carcinoma
Sickle Cell Trait
Pediatrics
Neoplasms
Therapeutics
24 Citations (Scopus)

Association of chromosome 1q gain with inferior survival in favorable-histology Wilms tumor: A report from the Children's Oncology Group

Gratias, E. J., Dome, J. S., Jennings, L. J., Chi, Y. Y., Tian, J., Anderson, J., Grundy, P., Mullen, E. A., Geller, J. I., Fernandez, C. V. & Perlman, E. J., Sep 10 2016, In : Journal of Clinical Oncology. 34, 26, p. 3189-3194 6 p.

Research output: Contribution to journalArticle

Wilms Tumor
Disease-Free Survival
Histology
Chromosomes
Survival
12 Citations (Scopus)

Expanding the spectrum of ALK-rearranged renal cell carcinomas in children: Identification of a novel HOOK1-ALK fusion transcript

Cajaiba, M. M., Jennings, L. J., George, D. & Perlman, E. J., Oct 1 2016, In : Genes Chromosomes and Cancer. 55, 10, p. 814-817 4 p.

Research output: Contribution to journalLetter

5 Citations (Scopus)

Expanding the spectrum of renal tumors in children: Primary renal myoepithelial carcinomas with a novel EWSR1-KLF15 fusion

Cajaiba, M. M., Jennings, L. J., Rohan, S. M., Carlson, K., Anagnost, M. R., Fahner, J. B., Fulton, B. K., Geller, J. I. & Perlman, E. J., Jan 1 2016, In : American Journal of Surgical Pathology. 40, 3, p. 386-394 9 p.

Research output: Contribution to journalArticle

Kruppel-Like Transcription Factors
Carcinoma
Kidney
Gene Rearrangement
Neoplasms
10 Citations (Scopus)

Primary cutaneous mammary analog secretory carcinoma with ETV6-NTRK3 translocation

Amin, S. M., Beattie, A., Ling, X., Jennings, L. J. & Guitart, J., Nov 1 2016, In : American Journal of Dermatopathology. 38, 11, p. 842-845 4 p.

Research output: Contribution to journalArticle

Skin
Neoplasms
Carcinoma
Progesterone Receptors
Salivary Glands
6 Citations (Scopus)
Induced Pluripotent Stem Cells
Mesenchymal Stromal Cells
Transgenes
Lentivirus
Regenerative Medicine
2015
18 Citations (Scopus)

MLLT1 YEATS domain mutations in clinically distinctive Favourable Histology Wilms tumours

Perlman, E. J., Gadd, S. L., Arold, S. T., Radhakrishnan, A., Gerhard, D. S., Jennings, L. J., Huff, V., Auvil, J. M. G., Davidsen, T. M., Dome, J. S., Meerzaman, D., Hsu, C. H., Nguyen, C., Anderson, J., Ma, Y., Mungall, A. J., Moore, R. A., Marra, M. A., Mullighan, C. G., Ma, J. & 5 others, Wheeler, D. A., Hampton, O. A., Gastier-Foster, J. M., Ross, N. & Smith, M. A., Dec 4 2015, In : Nature communications. 6, 10013.

Research output: Contribution to journalArticle

Histology
histology
Wilms Tumor
mutations
Tumors
1 Citation (Scopus)

Signaling impairments in maternal T cells engrafted in an infant with a novel IL-2 receptor γ mutation

Khanolkar, A., Wilks, J. D., Jennings, L. J., Davies, J. L., Zollett, J. A., Lott, L. L., Fullmer, E. R., Bensen, N. E., Carlson-Leuer, K. M., Tse, W. T. & Fuleihan, R. L., Apr 1 2015, In : Journal of Allergy and Clinical Immunology. 135, 4, p. 1093-1096.e8

Research output: Contribution to journalReview article

Interleukin Receptor Common gamma Subunit
Immunophenotyping
Interleukin-2 Receptors
Cell Transplantation
Signal Transduction
22 Citations (Scopus)

TCF21 hypermethylation in genetically quiescent clear cell sarcoma of the kidney

Gooskens, S. L., Gadd, S. L., Guidry Auvil, J. M., Gerhard, D. S., Khan, J., Patidar, R., Meerzaman, D., Chen, Q. R., Hsu, C. H., Yan, C., Nguyen, C., Hu, Y., Mullighan, C. G., Ma, J., Jennings, L. J., de Krijger, R. R., van den Heuvel-Eibrink, M. M., Smith, M. A., Ross, N., Gastier-Foster, J. M. & 1 others, Perlman, E. J., Jan 1 2015, In : Oncotarget. 6, 18, p. 15828-15841 14 p.

Research output: Contribution to journalArticle

Clear Cell Sarcoma
Kidney
Long Noncoding RNA
Gene Expression
Neoplasms
25 Citations (Scopus)

Variation in pre-PCR processing of FFPE samples leads to discrepancies in BRAF and EGFR mutation detection: A diagnostic RING trial

Kapp, J. R., Diss, T., Spicer, J., Gandy, M., Schrijver, I., Jennings, L. J., Li, M. M., Tsongalis, G. J., De Castro, D. G., Bridge, J. A., Wallace, A., Deignan, J. L., Hing, S., Butler, R., Verghese, E., Latham, G. J. & Hamoudi, R. A., Feb 1 2015, In : Journal of Clinical Pathology. 68, 2, p. 111-118 8 p.

Research output: Contribution to journalArticle

Paraffin
Formaldehyde
Polymerase Chain Reaction
Mutation
DNA
2014
55 Citations (Scopus)

Detection and quantification of BCR-ABL1 fusion transcripts by droplet digital PCR

Jennings, L. J., George, D., Czech, J., Yu, M. & Joseph, L., Mar 1 2014, In : Journal of Molecular Diagnostics. 16, 2, p. 174-179 6 p.

Research output: Contribution to journalArticle

Limit of Detection
Polymerase Chain Reaction
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Protein-Tyrosine Kinases
Real-Time Polymerase Chain Reaction
36 Citations (Scopus)

Methods-based proficiency testing in molecular genetic pathology

Schrijver, I., Aziz, N., Jennings, L. J., Richards, C. S., Voelkerding, K. V. & Weck, K. E., Jan 1 2014, In : Journal of Molecular Diagnostics. 16, 3, p. 283-287 5 p.

Research output: Contribution to journalArticle

Laboratory Proficiency Testing
Clinical Laboratory Services
Molecular Pathology
Workflow
Genetic Testing
5 Citations (Scopus)

Summary of microsatellite instability test results from laboratories participating in proficiency surveys: Proficiency survey results from 2005 to 2012

Boyle, T. A., Bridge, J. A., Sabatini, L. M., Nowak, J. A., Vasalos, P., Jennings, L. J. & Halling, K. C., Jan 1 2014, In : Archives of Pathology and Laboratory Medicine. 138, 3, p. 363-370 8 p.

Research output: Contribution to journalArticle

Microsatellite Instability
Laboratory Proficiency Testing
Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms
Surveys and Questionnaires
2013
49 Citations (Scopus)

A prospective, multi-Institutional diagnostic trial to determine pathologist accuracy in estimation of percentage of malignant cells

Viray Dr., H., Li, K., Long, T. A., Vasalos, P., Bridge Dr., J. A., Jennings, L. J., Halling, K. C., Hameed Dr., M. & Rimm Dr., D. L., Nov 1 2013, In : Archives of Pathology and Laboratory Medicine. 137, 11, p. 1545-1549 5 p.

Research output: Contribution to journalArticle

Patient Care
Colon
Pathologists
Surveys and Questionnaires
Neoplasms
23 Citations (Scopus)

Detection and quantification of chimerism by droplet digital PCR

George, D., Czech, J., John, B., Yu, M. & Jennings, L. J., Jan 1 2013, In : Chimerism. 4, 3

Research output: Contribution to journalArticle

Chimerism
Polymerase Chain Reaction
Cell Transplantation
Technology
38 Citations (Scopus)

Gain of 1q is associated with inferior event-free and overall survival in patients with favorable histology Wilms tumor: A report from the Children's Oncology Group

Gratias, E. J., Jennings, L. J., Anderson, J. R., Dome, J. S., Grundy, P. & Perlman, E. J., Nov 1 2013, In : Cancer. 119, 21, p. 3887-3894 8 p.

Research output: Contribution to journalArticle

Wilms Tumor
Disease-Free Survival
Histology
Confidence Intervals
Survival Rate
29 Citations (Scopus)

Genetic and clinical determinants influencing warfarin dosing in children with heart disease

Nguyen, N. T., Anley, P., Yu, M. Y., Zhang, G., Thompson, A. A. & Jennings, L. J., Apr 1 2013, In : Pediatric cardiology. 34, 4, p. 984-990 7 p.

Research output: Contribution to journalArticle

Warfarin
Heart Diseases
International Normalized Ratio
Cytochrome P-450 Enzyme System
Linear Models
10 Citations (Scopus)
Vascular Malformations
Fibrosarcoma
Blood Vessels
trkC Receptor
Biopsy
2012
3 Citations (Scopus)

A novel HLA-A*30 allele, HLA-A*30:36

Jennings, L., Hall, J. E., Caparelli, E., Silva, M. & Yu, M., Feb 1 2012, In : Tissue Antigens. 79, 2, p. 132-134 3 p.

Research output: Contribution to journalComment/debate

HLA-A Antigens
Registries
Bone
Bone Marrow
Alleles
53 Citations (Scopus)

Clinically relevant subsets identified by gene expression patterns support a revised ontogenic model of Wilms tumor: A Children's Oncology Group study

Gadd, S. L., Huff, V., Huang, C. C., Cristy Ruteshouser, E., Dome, J. S., Grundy, P. E., Breslow, N., Jennings, L. J., Green, D. M., Bruce Beckwith, J. & Perlman, E. J., Jan 1 2012, In : Neoplasia (United States). 14, 8, p. 742-756 15 p.

Research output: Contribution to journalArticle

Wilms Tumor
Mesoderm
Transcriptome
Gene Expression
Methylation
20 Citations (Scopus)

Design and analytic validation of BCR-ABL1 quantitative reverse transcription polymerase chain reaction assay for monitoring minimal residual disease

Jennings, L. J., Smith, F. A., Halling, K. C., Persons, D. L. & Kamel-Reid, S., Jan 1 2012, In : Archives of Pathology and Laboratory Medicine. 136, 1, p. 33-40 8 p.

Research output: Contribution to journalArticle

Residual Neoplasm
Reverse Transcription
Polymerase Chain Reaction
United States Food and Drug Administration
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
29 Citations (Scopus)

Developmental alterations of the respiratory human retrotrapezoid nucleus in sudden unexplained fetal and infant death

Lavezzi, A. M., Weese-Mayer, D. E., Yu, M. Y., Jennings, L. J., Corna, M. F., Casale, V., Oneda, R. & Matturri, L., Sep 25 2012, In : Autonomic Neuroscience: Basic and Clinical. 170, 1-2, p. 12-19 8 p.

Research output: Contribution to journalArticle

Fetal Death
Sudden Infant Death
Neurons
Pons
Autonomic Nervous System
12 Citations (Scopus)

Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS)

Rand, C. M., Yu, M., Jennings, L. J., Panesar, K., Berry-Kravis, E. M., Zhou, L. & Weese-Mayer, D. E., Sep 1 2012, In : American Journal of Medical Genetics, Part A. 158 A, 9, p. 2297-2301 5 p.

Research output: Contribution to journalArticle

Mosaicism
Recurrence
Mutation
Amniocentesis
Genetic Counseling
33 Citations (Scopus)

Mammary analogue secretory carcinoma of the parotid gland in a pediatric patient

Rastatter, J. C., Jatana, K. R., Jennings, L. J. & Melin-Aldana, H., Mar 1 2012, In : Otolaryngology - Head and Neck Surgery. 146, 3, p. 514-515 2 p.

Research output: Contribution to journalArticle

Neoplasm Invasiveness
Parotid Neoplasms
Acinar Cell Carcinoma
Neck Dissection
X Ray Computed Tomography
14 Citations (Scopus)

Mediators of receptor tyrosine kinase activation in infantile fibrosarcoma: A Children's Oncology Group study

Gadd, S. L., Beezhold, P., Jennings, L. J., George, D., Carlson, K., Huang, C. C., Huff, V., Tognon, C., Sorensen, P. H. B., Triche, T., Coffin, C. M. & Perlman, E. J., Sep 1 2012, In : Journal of Pathology. 228, 1, p. 119-130 12 p.

Research output: Contribution to journalArticle

Fibrosarcoma
Receptor Protein-Tyrosine Kinases
Mesoblastic Nephroma
STAT5 Transcription Factor
Kidney

Molecular analysis in pediatric renal tumors

Jennings, L. J., Jan 1 2012, Pediatric Neoplasia: Advances in Molecular Pathology and Translational Medicine. Humana Press Inc, p. 223-242 20 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Pediatrics
Kidney
Neoplasms
7 Citations (Scopus)

Pilot study of the association of the DDAH2-449G polymorphism with asymmetric dimethylarginine and hemodynamic shock in pediatric sepsis

Weiss, S. L., Yu, M., Jennings, L. J., Haymond, S., Zhang, G. & Wainwright, M., Mar 12 2012, In : PLoS One. 7, 3, e33355.

Research output: Contribution to journalArticle

sepsis (infection)
Pediatrics
Hemodynamics
hemodynamics
Polymorphism
28 Citations (Scopus)

Variable human phenotype associated with novel deletions of the PHOX2B gene

Jennings, L. J., Yu, M., Rand, C. M., Kravis, N., Berry-Kravis, E. M., Patwari, P. P. & Weese-Mayer, D. E., Feb 1 2012, In : Pediatric Pulmonology. 47, 2, p. 153-161 9 p.

Research output: Contribution to journalArticle

Gene Deletion
Exons
Phenotype
Hypoventilation
Gene Duplication
2011
4 Citations (Scopus)

Validation of multiplex ligation-dependent probe amplification for confirmation of array comparative genomic hybridization

Jennings, L. J., Yu, M., Fitzpatrick, C. & Smith, F. A., Sep 1 2011, In : Diagnostic Molecular Pathology. 20, 3, p. 166-174 9 p.

Research output: Contribution to journalArticle

Comparative Genomic Hybridization
Multiplex Polymerase Chain Reaction
Fluorescence In Situ Hybridization
Y Chromosome
X Chromosome
45 Citations (Scopus)

WT1 mutation and 11P15 loss of heterozygosity predict relapse in very low-risk Wilms tumors treated with surgery alone: A children's oncology group study

Perlman, E. J., Grundy, P. E., Anderson, J. R., Jennings, L. J., Green, D. M., Dome, J. S., Shamberger, R. C., Ruteshouser, E. C. & Huff, V., Feb 20 2011, In : Journal of Clinical Oncology. 29, 6, p. 698-703 6 p.

Research output: Contribution to journalArticle

Wilms Tumor
Loss of Heterozygosity
Recurrence
Mutation
Drug Therapy
2010
3 Citations (Scopus)

A novel HLA-A*03 allele, HLA-A*03:71

Yu, M., Hall, J. E., Hartman, K., Czech, J. & Jennings, L., Oct 1 2010, In : Tissue Antigens. 76, 4, 1 p.

Research output: Contribution to journalArticle

HLA-A Antigens
Alleles
Polymerase Chain Reaction
15 Citations (Scopus)

Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers

Jennings, L. J., Yu, M., Zhou, L., Rand, C. M., Berry-Kravis, E. M. & Weese-Mayer, D. E., Dec 1 2010, In : Diagnostic Molecular Pathology. 19, 4, p. 224-231 8 p.

Research output: Contribution to journalArticle

Mutation
Mosaicism
Cytosine
Guanine
Sequence Analysis