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Saquib A. Lakhani, MD

Associate Professor Term; Clinical Director, Pediatric Genomics Discovery Program

Research & Publications
Biography
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Selected Publications

A retrospective cohort analysis of the Yale pediatric genomics discovery programAl‐Ali S, Jeffries L, Faustino EVS, Ji W, Mis E, Konstantino M, Zerillo C, Jiang Y, Spencer‐Manzon M, Bale A, Zhang H, McGlynn J, McGrath JM, Tremblay T, Brodsky NN, Lucas CL, Pierce R, Deniz E, Khokha MK, Lakhani SA. A retrospective cohort analysis of the Yale pediatric genomics discovery program American Journal Of Medical Genetics Part A 2022, 188: 2869-2878. PMID: 35899841, PMCID: PMC9474639, DOI: 10.1002/ajmg.a.62918.
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.
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathySega 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 2018, 56: 113. PMID: 30323019, DOI: 10.1136/jmedgenet-2018-105322.
Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammationTyler PM, Bucklin ML, Zhao M, Maher TJ, Rice AJ, Ji W, Warner N, Pan J, Morotti R, McCarthy P, Griffiths A, van Rossum AMC, Hollink IHIM, Dalm VASH, Catanzaro J, Lakhani SA, Muise AM, Lucas CL. Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation Nature Immunology 2021, 22: 1118-1126. PMID: 34326534, PMCID: PMC8985851, DOI: 10.1038/s41590-021-00984-4.
Functional testing for variant prioritization in a family with long QT syndromeNajari Beidokhti M, Bertalovitz AC, Ji W, McCormack J, Jeffries L, Sempou E, Khokha MK, McDonald TV, Lakhani SA. Functional testing for variant prioritization in a family with long QT syndrome Molecular Genetics And Genomics 2021, 296: 823-836. PMID: 33876311, DOI: 10.1007/s00438-021-01780-3.
Expansion of NEUROD2 phenotypes to include developmental delay without seizuresMis EK, Sega AG, Signer RH, Cartwright T, Ji W, Martinez‐Agosto J, Nelson SF, Palmer CGS, Lee H, Mitzelfelt T, Konstantino M, Network U, Jeffries L, Khokha MK, Marco E, Martin MG, Lakhani SA. Expansion of NEUROD2 phenotypes to include developmental delay without seizures American Journal Of Medical Genetics Part A 2021, 185: 1076-1080. PMID: 33438828, PMCID: PMC8212414, DOI: 10.1002/ajmg.a.62064.
Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2)Brooks JP, Rice AJ, Ji W, Lanahan SM, Konstantino M, Dara J, Hershfield MS, Cruickshank A, Dokmeci E, Lakhani S, Lucas CL. Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2) Journal Of Clinical Immunology 2021, 41: 680-683. PMID: 33394316, DOI: 10.1007/s10875-020-00940-1.
The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequenceMis EK, Al‐Ali S, Ji W, Spencer‐Manzon M, Konstantino M, Khokha MK, Jeffries L, Lakhani SA. The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequence American Journal Of Medical Genetics Part A 2020, 182: 2291-2296. PMID: 32812332, DOI: 10.1002/ajmg.a.61783.
DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variantsAmabile S, Jeffries L, McGrath JM, Ji W, Spencer‐Manzon M, Zhang H, Lakhani SA. DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants American Journal Of Medical Genetics Part A 2020, 182: 2049-2057. PMID: 32656949, DOI: 10.1002/ajmg.a.61729.
Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndromeBrodsky 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.
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndromeAlharatani R, Ververi A, Beleza-Meireles A, Ji W, Mis E, Patterson QT, Griffin JN, Bhujel N, Chang CA, Dixit A, Konstantino M, Healy C, Hannan S, Neo N, Cash A, Li D, Bhoj E, Zackai EH, Cleaver R, Baralle D, McEntagart M, Newbury-Ecob R, Scott R, Hurst JA, Au PYB, Hosey MT, Khokha M, Marciano DK, Lakhani SA, Liu KJ. Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome Human Molecular Genetics 2020, 29: 1900-1921. PMID: 32196547, PMCID: PMC7372553, DOI: 10.1093/hmg/ddaa050.
Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 VariantsLandim-Vieira M, Johnston JR, Ji W, Mis EK, Tijerino J, Spencer-Manzon M, Jeffries L, Hall EK, Panisello-Manterola D, Khokha MK, Deniz E, Chase PB, Lakhani SA, Pinto JR. Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants Frontiers In Physiology 2020, 10: 1612. PMID: 32038292, PMCID: PMC6990120, DOI: 10.3389/fphys.2019.01612.
Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrumKiraly-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 Molecular Case Studies 2019, 5: a003699. PMID: 30819764, PMCID: PMC6549552, DOI: 10.1101/mcs.a003699.
A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal deathPenque 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 2018, 62: 103574. PMID: 30439532, DOI: 10.1016/j.ejmg.2018.11.008.
A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type I Crigler-Najjar SyndromeElfar W, Järvinen 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 I Crigler-Najjar Syndrome Drug Metabolism And Disposition 2018, 47: dmd.118.084368. PMID: 30385458, DOI: 10.1124/dmd.118.084368.
Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell HyperproliferationLe 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.
Patients with common variable immunodeficiency with autoimmune cytopenias exhibit hyperplastic yet inefficient germinal center responsesRomberg N, Le Coz C, Glauzy S, Schickel JN, Trofa M, Nolan BE, Paessler M, 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 Journal Of Allergy And Clinical Immunology 2018, 143: 258-265. PMID: 29935219, PMCID: PMC6400323, DOI: 10.1016/j.jaci.2018.06.012.
A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural historyJeffries 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 2017, 176: 415-420. PMID: 29266745, DOI: 10.1002/ajmg.a.38557.
Apoptotic Caspases Prevent the Induction of Type I Interferons by Mitochondrial DNARongvaux 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: 1563-1577. PMID: 25525875, PMCID: PMC4272443, DOI: 10.1016/j.cell.2014.11.037.
JNK Expression by Macrophages Promotes Obesity-Induced Insulin Resistance and InflammationHan 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 2012, 339: 218-222. PMID: 23223452, PMCID: PMC3835653, DOI: 10.1126/science.1227568.
Endoplasmic Reticulum Stress-induced Death of Mouse Embryonic Fibroblasts Requires the Intrinsic Pathway of Apoptosis*Masud A, Mohapatra A, Lakhani SA, Ferrandino A, Hakem R, Flavell RA. Endoplasmic Reticulum Stress-induced Death of Mouse Embryonic Fibroblasts Requires the Intrinsic Pathway of Apoptosis* Journal Of Biological Chemistry 2007, 282: 14132-14139. PMID: 17371867, DOI: 10.1074/jbc.m700077200.
Caspases 3 and 7: Key Mediators of Mitochondrial Events of ApoptosisLakhani 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 2006, 311: 847-851. PMID: 16469926, PMCID: PMC3738210, DOI: 10.1126/science.1115035.
Toll-like receptor signaling in sepsisLakhani SA, Bogue CW. Toll-like receptor signaling in sepsis Current Opinion In Pediatrics 2003, 15: 278-282. PMID: 12806257, DOI: 10.1097/00008480-200306000-00009.
Caspase Knockouts: Matters of Life and DeathLakhani S, Lu B, Flavell R. Caspase Knockouts: Matters of Life and Death 2002, 13-35. DOI: 10.1002/3527601457.ch2.

Clinical Trials

Conditions	Study Title
Children's Health; Genetics - Pediatric	Pediatric Genomics Discovery Program (PGDP)

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Saquib A. Lakhani, MD

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Research & Publications

Biography

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Selected Publications

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