Assistant Professor, Molecular and Human Genetics, Baylor College of Medicine

Pediatrics

Seema Lalani practices Pediatrics. She studied medicine at Baylor College of Medicine. Seema Lalani is also published. She has 52 publications published. The lastest publication: "A Genome Wide Association Study of Congenital Cardiovascular Left-Sided Lesions Shows Association with a Locus on Chromosome 20.'

Publications

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• Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
• Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant.
• Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.
• Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.
• The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism.
• Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome.
• 6q22.1 microdeletion and susceptibility to pediatric epilepsy.
• Genetic basis of congenital cardiovascular malformations.
• Heterozygous deletion of exons 18 and 19 of IGF1R in an individual with short stature.
• Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36.
• Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases.
• Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy.
• NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits.
• TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities.
• Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
• Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
• Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?
• Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association.
• Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.
• Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
• TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly.
• Detection of clinically relevant exonic copy-number changes by array CGH.
• HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome.
• Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.
• Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies.
• Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
• Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.
• 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.
• Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization.
• Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
• Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency.
• Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions.
• Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms.
• Functional impairment in COPD patients: the impact of anxiety and depression.
• 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits.
• A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation.
• SEMA3E mutation in a patient with CHARGE syndrome.
• Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de ...
• Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.
• Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome.
• Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization.
• 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.
• Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.
• Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.
• Phenotypic manifestations of copy number variation in chromosome 16p13.11.
• High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
• Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2).
• SNP genotyping to screen for a common deletion in CHARGE syndrome.
• Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.
• Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
• A Genome Wide Association Study of Congenital Cardiovascular Left-Sided Lesions Shows Association with a Locus on Chromosome 20.

Doctors Specialties

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• Clinical Cytogenetics
• Clinical Genetics
• Pediatrics

Accepted Insurances

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Education

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• Baylor College of Medicine
• Geisinger Health System
• Aga Khan Medical College

Hospital

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

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