Saquib Lakhani, MD

• Akiko Iwasaki
• Allen Bale
• Carmen Jane Booth
• Carrie L Lucas
• Clifford Bogue
• Eric Meffre
• Florence Ida Hsu
• Jason Catanzaro
• Jillian Warejko
• Lajos Pusztai
• Lauren Jeffries
• Michele Spencer-Manzon
• Mina Xu
• Mustafa Khokha
• Nina Brodsky
• Richard Flavell
• Richard Pierce
• Robert Fulbright
• Wajahat Mehal
• Weizhen Ji

Congenital Abnormalities; Genetics; Genetics, Medical; Heart Defects, Congenital; Pediatrics; Seizures; Developmental Biology; Genetic Diseases, Inborn; Integrative Medicine

• A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype.AbuBakr F, Jeffries L, Ji W, McGrath JM, Lakhani SA. A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype. Cold Spring Harbor Molecular Case Studies 2020, 6 PMID: 32299812, PMCID: PMC7304360, DOI: 10.1101/mcs.a005207.
• Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome.Brodsky NN, Boyarchuk O, Kovalchuk T, Hariyan T, Rice A, Ji W, Khokha M, Lakhani S, Lucas CL. Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome. Journal Of Human Genetics 2020, 65: 911-915. PMID: 32435055, DOI: 10.1038/s10038-020-0776-0.
• Patients with common variable immunodeficiency with autoimmune cytopenias exhibit hyperplastic yet inefficient germinal center responses.Romberg N, Le Coz C, Glauzy S, Schickel JN, Trofa M, Nolan BE, Paessler M, LuQing Xu M, Lambert MP, Lakhani SA, Khokha MK, Jyonouchi S, Heimall J, Takach P, Maglione PJ, Catanzaro J, Hsu FI, Sullivan KE, Cunningham-Rundles C, Meffre E. Patients with common variable immunodeficiency with autoimmune cytopenias exhibit hyperplastic yet inefficient germinal center responses. The Journal Of Allergy And Clinical Immunology 2019, 143: 258-265. PMID: 29935219, PMCID: PMC6400323, DOI: 10.1016/j.jaci.2018.06.012.
• Whole-Exome Sequencing of Adult and Pediatric Cohorts of the Rare Vascular Disorder Systemic Capillary Leak Syndrome.Pierce R, Ji W, Chan EC, Xie Z, Long LM, Khokha M, Lakhani S, Druey KM. Whole-Exome Sequencing of Adult and Pediatric Cohorts of the Rare Vascular Disorder Systemic Capillary Leak Syndrome. Shock (Augusta, Ga.) 2019, 52: 183-190. PMID: 30289850, PMCID: PMC6447489, DOI: 10.1097/SHK.0000000000001254.
• Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.Jeffries L, Olivieri JE, Ji W, Spencer-Manzon M, Bale A, Konstantino M, Lakhani SA. Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases. European Journal Of Medical Genetics 2019, 62: 103551. PMID: 30300710, DOI: 10.1016/j.ejmg.2018.10.003.
• A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death.Penque BA, Su L, Wang J, Ji W, Bale A, Luh F, Fulbright RK, Sarmast U, Sega AG, Konstantino M, Spencer-Manzon M, Pierce R, Yen Y, Lakhani SA. A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death. European Journal Of Medical Genetics 2019, 62: 103574. PMID: 30439532, DOI: 10.1016/j.ejmg.2018.11.008.
• De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.Sega AG, Mis EK, Lindstrom K, Mercimek-Andrews S, Ji W, Cho MT, Juusola J, Konstantino M, Jeffries L, Khokha MK, Lakhani SA. De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy. Journal Of Medical Genetics 2019, 56: 113-122. PMID: 30323019, DOI: 10.1136/jmedgenet-2018-105322.
• A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type 1 Crigler-Najjar Syndrome.Elfar W, Jarvinen E, Ji W, Mosorin J, Sega AG, Iuga AC, Lobritto SJ, Konstantino M, Chan A, Finel M, Lakhani SA. A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type 1 Crigler-Najjar Syndrome. Drug Metabolism And Disposition: The Biological Fate Of Chemicals 2019, 47: 45-48. PMID: 30385458, DOI: 10.1124/dmd.118.084368.
• Rethinking what constitutes a diagnosis in the genomics era: a critical illness perspective.Lakhani SA, Pierce R. Rethinking what constitutes a diagnosis in the genomics era: a critical illness perspective. Current Opinion In Pediatrics 2019 PMID: 30893184, DOI: 10.1097/MOP.0000000000000754.
• Rethinking what constitutes a diagnosis in the genomics era: a critical illness perspective.Lakhani SA, Pierce R. Rethinking what constitutes a diagnosis in the genomics era: a critical illness perspective. Current Opinion In Pediatrics 2019, 31: 317-321. PMID: 31090571, DOI: 10.1097/MOP.0000000000000754.
• Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report.Sandokji I, Marquez J, Ji W, Zerillo CA, Konstantino M, Lakhani SA, Khokha MK, Warejko JK. Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report. BMC Nephrology 2019, 20: 271. PMID: 31315584, PMCID: PMC6637548, DOI: 10.1186/s12882-019-1458-z.
• Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum.Kiraly-Borri C, Jevon G, Ji W, Jeffries L, Ricciardi JL, Konstantino M, Ackerman KG, Lakhani SA. Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum. Cold Spring Harbor Molecular Case Studies 2019, 5 PMID: 30819764, PMCID: PMC6549552, DOI: 10.1101/mcs.a003699.
• Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure.Criscione J, Ji W, Jeffries L, McGrath JM, Soloway S, Pusztai L, Lakhani SA. Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure. Cold Spring Harbor Molecular Case Studies 2019, 5 PMID: 31653660, PMCID: PMC6913140, DOI: 10.1101/mcs.a004374.
• Data Science for Child Health.Bennett TD, Callahan TJ, Feinstein JA, Ghosh D, Lakhani SA, Spaeder MC, Szefler SJ, Kahn MG. Data Science for Child Health. The Journal Of Pediatrics 2019, 208: 12-22. PMID: 30686480, PMCID: PMC6486872, DOI: 10.1016/j.jpeds.2018.12.041.
• A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.Jeffries L, Shima H, Ji W, Panisello-Manterola D, McGrath J, Bird LM, Konstantino M, Narumi S, Lakhani S. A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history. American Journal Of Medical Genetics. Part A 2018, 176: 415-420. PMID: 29266745, DOI: 10.1002/ajmg.a.38557.
• Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation.Le Coz C, Nolan BE, Trofa M, Kamsheh AM, Khokha MK, Lakhani SA, Novelli A, Zackai EH, Sullivan KE, Briuglia S, Bhatti TR, Romberg N. Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation. Frontiers In Immunology 2018, 9: 1715. PMID: 30087679, PMCID: PMC6066513, DOI: 10.3389/fimmu.2018.01715.
• Safety and Utility of Continuous Ketamine Infusion for Sedation in Mechanically Ventilated Pediatric Patients.Heiberger AL, Ngorsuraches S, Olgun G, Luze L, Leimbach C, Madison H, Lakhani SA. Safety and Utility of Continuous Ketamine Infusion for Sedation in Mechanically Ventilated Pediatric Patients. The Journal Of Pediatric Pharmacology And Therapeutics : JPPT : The Official Journal Of PPAG 2018, 23: 447-454. PMID: 30697129, PMCID: PMC6336171, DOI: 10.5863/1551-6776-23.6.447.
• Financial, Resource Utilization and Mortality Impacts of Teaching Hospital Status on Pediatric Patients Admitted for Sepsis.Hsu BS, Meyer BD, Lakhani SA. Financial, Resource Utilization and Mortality Impacts of Teaching Hospital Status on Pediatric Patients Admitted for Sepsis. The Pediatric Infectious Disease Journal 2017, 36: 712-719. PMID: 28033241, DOI: 10.1097/INF.0000000000001526.
• Comparison of Transferred Versus Nontransferred Pediatric Patients Admitted for Sepsis.Hsu BS, Schimelpfenig M, Lakhani S. Comparison of Transferred Versus Nontransferred Pediatric Patients Admitted for Sepsis. Air Medical Journal 2016, 35: 43-5. PMID: 26856659, DOI: 10.1016/j.amj.2015.09.005.
• Acid-Base Disorders.Hsu BS, Lakhani SA, Wilhelm M. Acid-Base Disorders. Pediatrics In Review / American Academy Of Pediatrics 2016, 37: 361-9. PMID: 27587638, DOI: 10.1542/pir.2015-0093.
• Pediatric Traumatic Brain Injury.Schaller AL, Lakhani SA, Hsu BS. Pediatric Traumatic Brain Injury. South Dakota Medicine : The Journal Of The South Dakota State Medical Association 2015, 68: 457-61, 463. PMID: 26630835.
• Relationship Between Severity of Illness and Length of Stay on Costs Incurred During a Pediatric Critical Care Hospitalization.Hsu BS, Lakhani S, Brazelton TB. Relationship Between Severity of Illness and Length of Stay on Costs Incurred During a Pediatric Critical Care Hospitalization. South Dakota Medicine : The Journal Of The South Dakota State Medical Association 2015, 68: 339, 341-4. PMID: 26380427.
• Apoptotic caspases prevent the induction of type I interferons by mitochondrial DNA.Rongvaux A, Jackson R, Harman CC, Li T, West AP, de Zoete MR, Wu Y, Yordy B, Lakhani SA, Kuan CY, Taniguchi T, Shadel GS, Chen ZJ, Iwasaki A, Flavell RA. Apoptotic caspases prevent the induction of type I interferons by mitochondrial DNA. Cell 2014, 159: 1563-77. PMID: 25525875, PMCID: PMC4272443, DOI: 10.1016/j.cell.2014.11.037.
• JNK expression by macrophages promotes obesity-induced insulin resistance and inflammation.Han MS, Jung DY, Morel C, Lakhani SA, Kim JK, Flavell RA, Davis RJ. JNK expression by macrophages promotes obesity-induced insulin resistance and inflammation. Science (New York, N.Y.) 2013, 339: 218-22. PMID: 23223452, PMCID: PMC3835653, DOI: 10.1126/science.1227568.
• Caspases 3 and 7: key mediators of mitochondrial events of apoptosis.Lakhani SA, Masud A, Kuida K, Porter GA, Booth CJ, Mehal WZ, Inayat I, Flavell RA. Caspases 3 and 7: key mediators of mitochondrial events of apoptosis. Science (New York, N.Y.) 2006, 311: 847-51. PMID: 16469926, PMCID: PMC3738210, DOI: 10.1126/science.1115035.
• Caspases and T lymphocytes: a flip of the coin?Lakhani S, Flavell RA. Caspases and T lymphocytes: a flip of the coin? Immunological Reviews 2003, 193: 22-30. PMID: 12752667, DOI: 10.1034/j.1600-065x.2003.00046.x.
• Toll-like receptor signaling in sepsis.Lakhani SA, Bogue CW. Toll-like receptor signaling in sepsis. Current Opinion In Pediatrics 2003, 15: 278-82. PMID: 12806257, DOI: 10.1097/00008480-200306000-00009.