Professor, Molecular and Human Genetics, Baylor College of Medicine

Pediatrics

James Lupski works in the field of Pediatrics. He studied medicine at Baylor College of Medicine. He received 2 awards: "Elected Member" and "Fellow (FAAP)". James Lupski, MD is also a published doctor. He has 71 publication published. The most recent publication is: A Genome Wide Association Study of Congenital Cardiovascular Left-Sided Lesions Shows Association with a Locus on Chromosome 20.

Publications

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• Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.
• Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
• DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
• Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.
• Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes.
• Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
• Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
• Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation.
• DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage.
• Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.
• FBN1 contributing to familial congenital diaphragmatic hernia.
• Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication.
• Homozygous loss-of-function mutations in SOHLH1 in patients with non-syndromic hypergonadotropic hypogonadism.
• Absence of Heterozygosity due to Template Switching during Replicative Rearrangements.
• DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome.
• Whole Exome Sequencing Identifies an Adult-onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-syndromic Bull's Eye Maculopathy.
• TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
• Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whol...
• Analysis of the ABCA4 genomic locus in Stargardt disease.
• Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
• The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
• Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome.
• Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.
• Molecular and phenotypic characterization of atypical Williams-Beuren syndrome.
• New Mutations in the RAB28 Gene in 2 Spanish Families With Cone-Rod Dystrophy.
• Genetic and Clinical Analysis of ABCA4-Associated Disease in African American Patients.
• Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Gra...
• Whole exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.
• Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing.
• A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
• Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics.
• Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.
• Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
• Passage Number is a Major Contributor to Genomic Structural Variations in Mouse iPS Cells.
• New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.
• PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia.
• De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea.
• Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function.
• Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
• Charcot Marie Tooth disease and pathways to molecular based therapies.
• Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome.
• Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
• Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.
• NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability.
• Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication.
• CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.
• Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.
• Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases.
• Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome.
• Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
• Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.
• Mutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly.
• Brief Report: Regression Timing and Associated Features in MECP2 Duplication Syndrome.
• Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy.
• Replicative mechanisms for CNV formation are error prone.
• NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits.
• Genetics. Genome mosaicism--one human, multiple genomes.
• Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.
• TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities.
• Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness.
• Circadian abnormalities in mouse models of smith-magenis syndrome: Evidence for involvement of RAI1.
• Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
• Confounding by Repetitive Elements and CpG Islands Does Not Explain the Association between Hypomethylation and Genomic Instability.
• Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
• A functional role for structural variation in metabolism.
• Incidental copy-number variants identified by routine genome testing in a clinical population.
• Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.
• Genitourinary Defects Associated with Genomic Deletions in 2p15 Encompassing OTX1.
• Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.
• A Genome Wide Association Study of Congenital Cardiovascular Left-Sided Lesions Shows Association with a Locus on Chromosome 20.

Schools

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• New York University School Of Medicine

• Baylor College Med Tex Chldns

• Tex Chldns Hospital Baylor College

Doctors Specialties

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• Clinical Genetics
• Clinical Molecular Genetics
• Pediatrics

Accepted Insurances

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Awards

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• Elected Member
• Fellow (FAAP)

Education

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• Baylor College of Medicine
• NYU School of Medicine

Hospital

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• Texas Children's Hospital
• Baylor St. Luke's Medical Center

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