Positions
- Professor
-
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX US
- Assistant Laboratory Director
-
Cytogenetics Laboratory
Baylor Genetics
Education
- MD from Aga Khan University Medical College
- 01/1994 - Karachi, Pakistan
- Residency at Milton S Hershey Medical Center
- 01/1996 - Hershey, Pennsylvania United States
- Pediatrics
- Clinical Fellowship at Baylor College Of Medicine
- 01/1999 - Houston, TX United States
- Medical Genetics
- Clinical Fellowship at Baylor College Of Medicine
- 01/2004 - Houston, Texas United States
- Clinical Cytogenetics
Certifications
- General Pediatrics
- American Board of Pediatrics
- Clinical Genetics
- American Board of Medical Genetics
- Clinical Cytogenetics
- American Board of Medical Genetics
Professional Interests
- Copy number variations and diseases, congenital cardiovascular malformations, genetic causes of language/speech delay
Professional Statement
My work has focused on understanding the molecular basis of neurodevelopmental and cardiovascular disorders in the pediatric population. We have used molecular cytogenetic diagnostic tools such as chromosomal microarray analysis (CMA) and exome sequencing (ES) in understanding the genetic basis of birth defects. We have also studied the clinical utility of rapid ES in neonatal intensive care units. I have been involved with the Undiagnosed Diseases Network (UDN) study at Baylor College of Medicine for several years and helped characterize diagnoses in multiple undiagnosed children with rare diseases. Using ES, we have identified several novel Mendelian disorders responsible for neurodevelopmental disorders in the pediatric population. In 2016, we first described a cohort of patients with TANGO2 disease and are currently recruiting families in the natural history study.Websites
Selected Publications
- Coban-Akdemir ZH, Charng WL, Azamian M, Paine IS, Punetha J, Grochowski CM, (...), Lupski JR, Lalani SR "Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation." Am J Med Genet A. 2020 Jun;182(6):1387-1399. Pubmed PMID: 32233023
- Lalani SR "Other genomic disorders and congenital heart disease." Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):107-115. Pubmed PMID: 31909881
- Lalani SR, Graham B, Burrage L, Lai YC, Scaglia F, Soler-Alfonso C, Miyake CY, Yang Y "TANGO2-Related Metabolic Encephalopathy and Arrhythmias." GeneReviews®. 2018 Jan 25; Pubmed PMID: 29369572
- Meng L, Pammi M, Saronwala A, Magoulas P, (...), Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR "Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.." JAMA Pediatr.. 2017;171:e173438.
- Lalani SR, Liu P, Rosenfeld JA, Watkin LB, (...), Yang Y "Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.." Am J Hum Genet.. 2016;98:347-57.
- Burrage LC, Charng WL, Eldomery MK, (...), Lalani SR, Lupski JR, Bongers EM, Yang Y "De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.." Am J Hum Genet.. 2015;97:904-13.
- Probst FJ, James RA, Burrage LC, Rosenfeld JA, Bohan TP, Ward Melver CH, Magoulas P, Austin E, Franklin AI, Azamian M, Xia F, Patel A, Bi W, Bacino C, Belmont JW, Ware SM, Shaw C, Cheung SW, Lalani SR "De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations.." Orphanet J Rare Dis.. 2015 Jun 14;10:75. Pubmed PMID: 26070612
- Szafranski P, Von Allmen GK, Graham BH, Wilfong AA, Kang SH, Ferreira JA, Upton SJ, Moeschler JB, Bi W, Rosenfeld JA, Shaffer LG, Wai Cheung S, Stankiewicz P, Lalani SR "6q22.1 microdeletion and susceptibility to pediatric epilepsy." Eur J Hum Genet. 2015 Feb;23:173-9. Pubmed PMID: 24824130
- Parrott A, James J, Goldenberg P, Hinton RB, Miller E, Shikany A, Aylsworth AS, Kaiser-Rogers K, Ferns SJ, Lalani SR, Ware SM "Aortopathy in the 7q11.23 microduplication syndrome." Am J Med Genet A. 2015 Feb;167:363-70. Pubmed PMID: 25428557
- Lalani SR, Belmont JW "Genetic basis of congenital cardiovascular malformations." Eur J Med Genet. 2014 Aug;57(8):402-13. Pubmed PMID: 24793338
- Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, ..., Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F "Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome." Am J Hum Genet. 2014 Nov 6;95:579-83. Pubmed PMID: 25439098
- Lalani SR, Ware SM, Wang X, Zapata G, ..., Fernbach SD, Potocki L, Belmont JW "MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.." Hum Mol Genet.. 2013 1;22(21):4339-48. Pubmed PMID: 23773997
- Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, (.....), Lalani SR "TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities." Am J Hum Genet.. 2013 Aug 8;93(2):197-210. Pubmed PMID: 23810381
- Lalani SR, Shaw C, Wang X, Patel A, Patterson LW, Kolodziejska K, Szafranski P, Ou Z, Tian Q, Kang SH, Jinnah A, Ali S, Malik A, Hixson P, Potocki L, Lupski JR, Stankiewicz P, Bacino CA, Dawson B, Beaudet AL, Boricha FM, Whittaker R, Li C, Ware SM, Cheung "Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.." Eur. J. Hum. Genet.. 2013 Feb;21(2):173-81. Pubmed PMID: 22929023
- Lalani SR, Hefner MA, Belmont JW, Davenport SLH "CHARGE Syndrome." In: Pagon RA, Adam MP, Ardinger HH, Wallace S. 2012 Feb 2; Pubmed PMID: 20301296
- Liu P, Erez A, Nagamani SC, Dhar SU, Kolodziejska KE, Dharmadhikari AV, Cooper ML, Wiszniewska J, Zhang F, Withers MA, Bacino CA, Campos-Acevedo LD, Delgado MR, Freedenberg D, Garnica A, Grebe TA, Hernández-Almaguer D, Immken L, Lalani SR, McLean SD, Nort "Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.." Cell. 2011 Sep 16;146(6):889-903. Pubmed PMID: 21925314
- Layman WS, McEwen DP, Beyer LA, Lalani SR, Fernbach SD, Oh E, Swaroop A, Hegg CC, Raphael Y, Martens JR, Martin DM "Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome.." Hum. Mol. Genet.. 2009 Jun 1;18(11):1909-23. Pubmed PMID: 19279158
- Lalani SR, Thakuria JV, Cox GF, Wang X, Bi W, Bray MS, Shaw C, Cheung SW, Chinault AC, Boggs BA, Ou Z, Brundage EK, Lupski JR, Gentile J, Waisbren S, Pursley A, Ma L, Khajavi M, Zapata G, Friedman R, Kim JJ, Towbin JA, Stankiewicz P, Schnittger S, Hansman "20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits.." J. Med. Genet.. 2009 Mar;46(3):168-75. Pubmed PMID: 18812404
- Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Ge "Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.." Nat. Genet.. 2008 Dec;40(12):1466-71. Pubmed PMID: 19029900
- Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW "Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.." Am. J. Hum. Genet.. 2006 Feb;78(2):303-14. Pubmed PMID: 16400610
Memberships
- Society of Pediatric Research
- Member
- American Society of Human Genetics
- Member
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