Saquib A. Lakhani, MD
Pediatric Critical Care Medicine, Genetics, Pediatrics
Biography
Saquib Lakhani, MD, clinical director of Yale Medicine’s Pediatric Genomics Discovery Program (PGDP), specializes in caring for newborns and infants with undiagnosed birth defects. As a pediatrician, Dr. Lakhani treats young patients in critical condition and those with chronic health problems.
In his role at the PGDP, Dr. Lakhani works with genetic researchers to understand and interpret the results of patients’ genetic sequencing tests. “The intellectual aspect of my job is incredible,” he says. “I’m constantly exploring, learning, and facing new challenges.” The improvements in genetic sequencing technology allow the team at PGDP to help families answer a haunting question: Why did this happen to my child?
Dr. Lakhani recalls helping a family whose first child was born with heterotaxy, a rare birth defect in which the heart, stomach, intestines, and other organs are located in abnormal places. While mutated genes are suspected to cause heterotaxy, the family did not know which gene might be responsible in their particular case. After sequencing the genome of the parents and child, he discovered a possible culprit. “If the parents want to have another child, then we could, through in vitro fertilization, possibly choose eggs from the mother and sperm from the father without this mutation,” Dr. Lakhani says.
Titles
- Associate Professor Adjunct
- Clinical Director, Pediatric Genomics Discovery Program
Education & Training
- FellowUniversity of Arizona (2011)
- FellowYale University School of Medicine (2003)
- ResidentWashington University / St Louis Children's Hospital (1999)
- MDUniversity of Virginia School of Medicine (1996)
Additional Information
Publications
- Al‐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.
- 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.
- 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 2018, 56: 113. PMID: 30323019, DOI: 10.1136/jmedgenet-2018-105322.
- Kim A, Sakin I, Viviano S, Tuncel G, Aguilera S, Goles G, Jeffries L, Ji W, Lakhani S, Kose C, Silan F, Oner S, Kaplan O, Group M, Ergoren M, Mishra-Gorur K, Gunel M, Sag S, Temel S, Deniz E. CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow. Life Science Alliance 2024, 7: e202402708. PMID: 39168639, PMCID: PMC11339347, DOI: 10.26508/lsa.202402708.
- Bibi A, Ji W, Jeffries L, Zerillo C, Konstantino M, Mis E, Khursheed F, Khokha M, Lakhani S, Malik S. Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders. American Journal Of Medical Genetics Part C Seminars In Medical Genetics 2024, e32103. PMID: 39152716, DOI: 10.1002/ajmg.c.32103.
- Azab B, Aburizeg D, Shaaban S, Ji W, Mustafa L, Isbeih N, Al-Akily A, Mohammad H, Jeffries L, Khokha M, Lakhani S, Al-Ammouri I. Unraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan. Scientific Reports 2024, 14: 15141. PMID: 38956129, PMCID: PMC11219879, DOI: 10.1038/s41598-024-64921-9.
- Khan M, Abdullah, Khan H, Zaman A, Ahmed S, Iqbal P, Bilal M, Ullah K, Hasni M, Ullah I, Mis E, Lakhani S, Ahmad W. A Novel Variant in the Cyto-Tail of SMO Gene Underlying Isolated Postaxial Polydactyly. Molecular Syndromology 2024, 1-7. DOI: 10.1159/000539279.
- Khan F, Khan H, Ullah K, Nawaz S, Abdullah, Khan M, Ahmed S, Ilyas M, Ali A, Ullah I, Sohail A, Hussain S, Ahmad F, Faisal, Sufyan R, Hayat A, Hanif T, Bibi F, Hayat M, Ullah R, Khan I, Ali R, Hasni M, Ali H, Bilal M, Peralta S, Buchert R, Zehri Z, Hassan G, Liaqat K, Zahid M, Shah K, Mikitie O, Haack T, Ji W, Lakhani S, Ansar M, Ahmad W. Clinical and genetic investigation of 14 families with various forms of short stature syndromes. Clinical Genetics 2024, 106: 347-353. PMID: 38774940, DOI: 10.1111/cge.14550.
- Diarra S, Ghosh S, Cissé L, Coulibaly T, Yalcouyé A, Harmison G, Diallo S, Diallo S, Coulibaly O, Schindler A, Cissé C, Maiga A, Bamba S, Samassekou O, Khokha M, Mis E, Lakhani S, Donovan F, Jacobson S, Blackstone C, Guinto C, Landouré G, Bonifacino J, Fischbeck K, Grunseich C. AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia. Neurobiology Of Disease 2024, 198: 106537. PMID: 38772452, PMCID: PMC11209852, DOI: 10.1016/j.nbd.2024.106537.
- Szot J, Cuny H, Martin E, Sheng D, Iyer K, Portelli S, Nguyen V, Gereis J, Alankarage D, Chitayat D, Chong K, Wentzensen I, Vincent-Delormé C, Lermine A, Burkitt-Wright E, Ji W, Jeffries L, Pais L, Tan T, Pitt J, Wise C, Wright H, Andrews I, Pruniski B, Grebe T, Corsten-Janssen N, Bouman K, Poulton C, Prakash S, Keren B, Brown N, Hunter M, Heath O, Lakhani S, McDermott J, Ascher D, Chapman G, Bozon K, Dunwoodie S. A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder. Journal Of Clinical Investigation 2024, 134: e174824. PMID: 38357931, PMCID: PMC10866660, DOI: 10.1172/jci174824.
- Olyha S, O’Connor S, Kribis M, Bucklin M, Uthaya Kumar D, Tyler P, Alam F, Jones K, Sheikha H, Konnikova L, Lakhani S, Montgomery R, Catanzaro J, Du H, DiGiacomo D, Rothermel H, Moran C, Fiedler K, Warner N, Hoppenreijs E, van der Made C, Hoischen A, Olbrich P, Neth O, Rodríguez-Martínez A, Lucena Soto J, van Rossum A, Dalm V, Muise A, Lucas C. “Deficiency in ELF4, X-Linked”: a Monogenic Disease Entity Resembling Behçet’s Syndrome and Inflammatory Bowel Disease. Journal Of Clinical Immunology 2024, 44: 44. PMID: 38231408, PMCID: PMC10929603, DOI: 10.1007/s10875-023-01610-8.
- Jeffries L, Mis E, McWalter K, Donkervoort S, Brodsky N, Carpier J, Ji W, Ionita C, Roy B, Morrow J, Darbinyan A, Iyer K, Aul R, Banka S, Chao K, Cobbold L, Cohen S, Custodio H, Drummond-Borg M, Elmslie F, Finanger E, Hainline B, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach M, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin H, Roeder E, Roy S, Sapp K, Saade D, Sisodiya S, Stals K, Towner S, Wilson W, Disorders D, Borras S, Clark C, Dean J, Miedzybrodzka Z, Ross A, Tennant S, Dabir T, Donnelly D, Humphreys M, Magee A, McConnell V, McKee S, McNerlan S, Morrison P, Rea G, Stewart F, Cole T, Cooper N, Cooper-Charles L, Cox H, Islam L, Jarvis J, Keelagher R, Lim D, McMullan D, Morton J, Naik S, O’Driscoll M, Ong K, Osio D, Ragge N, Turton S, Vogt J, Williams D, Bodek S, Donaldson A, Hills A, Low K, Newbury-Ecob R, Norman A, Roberts E, Scurr I, Smithson S, Tooley M, Abbs S, Armstrong R, Dunn C, Holden S, Park S, Paterson J, Raymond L, Reid E, Sandford R, Simonic I, Tischkowitz M, Woods G, Bradley L, Comerford J, Green A, Lynch S, McQuaid S, Mullaney B, Berg J, Goudie D, Mavrak E, McLean J, McWilliam C, Reavey E, Azam T, Cleary E, Jackson A, Lam W, Lampe A, Moore D, Porteous M, Baple E, Baptista J, Brewer C, Castle B, Kivuva E, Owens M, Rankin J, Shaw-Smith C, Turner C, Turnpenny P, Tysoe C, Bradley T, Davidson R, Gardiner C, Joss S, Kinning E, Longman C, McGowan R, Murday V, Pilz D, Tobias E, Whiteford M, Williams N, Barnicoat A, Clement E, Faravelli F, Hurst J, Jenkins L, Jones W, Kumar V, Lees M, Loughlin S, Male A, Morrogh D, Rosser E, Scott R, Wilson L, Beleza A, Deshpande C, Flinter F, Holder M, Irving M, Izatt L, Josifova D, Mohammed S, Molenda A, Robert L, Roworth W, Ruddy D, Ryten M, Yau S, Bennett C, Blyth M, Campbell J, Coates A, Dobbie A, Hewitt S, Hobson E, Jackson E, Jewell R, Kraus A, Prescott K, Sheridan E, Thomson J, Bradshaw K, Dixit A, Eason J, Haines R, Harrison R, Mutch S, Sarkar A, Searle C, Shannon N, Sharif A, Suri M, Vasudevan P, Canham N, Ellis I, Greenhalgh L, Howard E, Stinton V, Swale A, Weber A, Banka S, Breen C, Briggs T, Burkitt-Wright E, Chandler K, Clayton-Smith J, Donnai D, Douzgou S, Gaunt L, Jones E, Kerr B, Langley C, Metcalfe K, Smith A, Wright R, Bourn D, Burn J, Fisher R, Hellens S, Henderson A, Montgomery T, Splitt M, Straub V, Wright M, Zwolinski S, Allen Z, Bernhard B, Brady A, Brooks C, Busby L, Clowes V, Ghali N, Holder S, Ibitoye R, Wakeling E, Blair E, Carmichael J, Cilliers D, Clasper S, Gibbons R, Kini U, Lester T, Nemeth A, Poulton J, Price S, Shears D, Stewart H, Wilkie A, Albaba S, Baker D, Balasubramanian M, Johnson D, Parker M, Quarrell O, Stewart A, Willoughby J, Crosby C, Elmslie F, Homfray T, Jin H, Lahiri N, Mansour S, Marks K, McEntagart M, Saggar A, Tatton-Brown K, Butler R, Clarke A, Corrin S, Fry A, Kamath A, McCann E, Mugalaasi H, Pottinger C, Procter A, Sampson J, Sansbury F, Varghese V, Baralle D, Callaway A, Cassidy E, Daniels S, Douglas A, Foulds N, Hunt D, Kharbanda M, Lachlan K, Mercer C, Side L, Temple I, Wellesley D, Consortium G, Ambrose J, Arumugam P, Baple E, Bleda M, Boardman-Pretty F, Boissiere J, Boustred C, Caulfield M, Chan G, Craig C, Daugherty L, de Burca A, Devereau A, Elgar G, Foulger R, Fowler T, FurióTarí P, Hackett J, Halai D, Hamblin A, Henderson S, Holman J, Hubbard T, Ibáñez K, Jackson R, Jones L, Kasperaviciute D, Kayikci M, Lahnstein L, Lawson K, Leigh S, Leong I, Lopez F, MaleadyCrowe F, Mason J, McDonagh E, Moutsianas L, Mueller M, Murugaesu N, Need A, Odhams C, Patch C, Perez-Gil D, Polychronopoulos D, Pullinger J, Rahim T, Rendon A, Riesgo-Ferreiro P, Rogers T, Ryten M, Savage K, Sawant K, Scott R, Siddiq A, Sieghart A, Smedley D, Smith K, Sosinsky A, Spooner W, Stevens H, Stuckey A, Sultana R, Thomas E, Thompson S, Tucci A, Walsh E, Watters S, Welland M, Williams E, Witkowska K, Network U, Acosta M, Adam M, Adams D, Agrawal P, Alejandro M, Alvey J, Amendola L, Andrews A, Ashley E, Azamian M, Bacino C, Bademci G, Baker E, Balasubramanyam A, Baldridge D, Bale J, Bamshad M, Barbouth D, Bayrak-Toydemir P, Beck A, Beggs A, Behrens E, Bejerano G, Bennet J, Berg-Rood B, Bernstein J, Berry G, Bican A, Bivona S, Blue E, Bohnsack J, Bonnenmann C, Bonner D, Botto L, Boyd B, Briere L, Brokamp E, Brown G, Burke E, Burrage L, Butte M, Byers P, Byrd W, Carey J, Carrasquillo O, Chang T, Chanprasert S, Chao H, Clark G, Coakley T, Cobban L, Cogan J, Coggins M, Cole F, Colley H, Cooper C, Craigen W, Crouse A, Cunningham M, D'Souza P, Dai H, Dasari S, Davids M, Dayal J, Deardorff M, Dell'Angelica E, Dhar S, Dipple K, Doherty D, Dorrani N, Douine E, Draper D, Duncan L, Earl D, Eckstein D, Emrick L, Eng C, Esteves C, Estwick T, Falk M, Fernandez L, Ferreira C, Fieg E, Findley L, Fisher P, Fogel B, Forghani I, Fresard L, Gahl W, Glass I, Godfrey R, Golden-Grant K, Goldman A, Goldstein D, Grajewski A, Groden C, Gropman A, Gutierrez I, Hahn S, Hamid R, Hanchard N, Hassey K, Hayes N, High F, Hing A, Hisama F, Holm I, Hom J, Horike-Pyne M, Huang A, Huang Y, Isasi R, Jamal F, Jarvik G, Jarvik J, Jayadev S, Johnston J, Karaviti L, Kelley E, Kennedy J, Kiley D, Kohane I, Kohler J, Krakow D, Krasnewich D, Kravets E, Korrick S, Koziura M, Krier J, Lalani S, Lam B, Lam C, Lanpher B, Lanza I, Lau C, LeBlanc K, Lee B, Lee H, Levitt R, Lewis R, Lincoln S, Liu P, Liu X, Longo N, Loo S, Loscalzo J, Maas R, Macnamara E, MacRae C, Maduro V, Majcherska M, Mak B, Malicdan M, Mamounas L, Manolio T, Mao R, Maravilla K, Markello T, Marom R, Marth G, Martin B, Martin M, Martínez-Agosto J, Marwaha S, McCauley J, McCormack C, McCray A, McGee E, Mefford H, Merritt J, Might M, Mirzaa G, Morava E, Moretti P, Morimoto M, Mulvihill J, Murdock D, Nakano-Okuno M, Nath A, Nelson S, Newman J, Nicholas S, Nickerson D, Nieves-Rodriguez S, Novacic D, Oglesbee D, Orengo J, Pace L, Pak S, Pallais J, Papp J, Parker N, Phillips J, Posey J, Potocki L, Pusey B, Quinlan A, Raskind W, Raja A, Rao D, Renteria G, Reuter C, Rives L, Robertson A, Rodan L, Rosenfeld J, Rosenwasser N, Ruzhnikov M, Sacco R, Sampson J, Samson S, Saporta M, Scott C, Schaechter J, Schedl T, Scott D, Sharma P, Shin J, Signer R, Sillari C, Silverman E, Sinsheimer J, Sisco K, Smith E, Smith K, Solem E, Solnica-Krezel L, Stoler J, Stong N, Sullivan J, Sun A, Sutton S, Sweetser D, Sybert V, Tabor H, Tamburro C, Tekin M, Telischi F, Thorson W, Tifft C, Toro C, Tran A, Tucker B, Urv T, Vanderver A, Velinder M, Viskochil D, Vogel T, Wahl C, Wallace S, Walley N, Walsh C, Walker M, Wambach J, Wan J, Wang L, Wangler M, Ward P, Wegner D, Wener M, Wenger T, Perry K, Westerfield M, Wheeler M, Whitlock J, Wolfe L, Woods J, Yamamoto S, Yang J, Yu G, Zastrow D, Zhao C, Zuchner S, Khokha M, Bönnemann C, Lucas C, Lakhani S. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections. Genetics In Medicine 2023, 26: 101023. PMID: 37947183, PMCID: PMC10932913, DOI: 10.1016/j.gim.2023.101023.
- Ali A, Abdullah, Bilal M, Mis E, Lakhani S, Ahmad W, Ullah I. Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families. Molecular Biology Reports 2023, 50: 9963-9970. PMID: 37897612, DOI: 10.1007/s11033-023-08816-4.
- Abdullah, Hussain S, Ji W, Khan H, Mis E, Mushtaq R, Chodhary M, Raza M, Jan A, Ullah I, Khokha M, Lakhani S, Ahmad W. Sequence variants in DLX5, HOXD13 and 445 kb‐microduplication surrounding BTRC cause split‐hand/foot malformation in three different families. Clinical Genetics 2023, 105: 109-111. PMID: 37776184, DOI: 10.1111/cge.14430.
- Bondarenko A, Boyarchuk O, Sakovich I, Polyakova E, Migas A, Kupchinskaya A, Opalinska A, Reich A, Volianska L, Hilfanova A, Lapiy F, Chernyshova L, Volokha A, Zabara D, Belevtsev M, Shman T, Kukharenko L, Goltsev M, Dubouskaya T, Hancharou A, Ji W, Lakhani S, Lucas C, Aleinikova O, Sharapova S. Variable CD18 expression in a 22‐year‐old female with leukocyte adhesion deficiency I: Clinical case and literature review. Clinical Case Reports 2023, 11: e7791. PMID: 37601427, PMCID: PMC10432584, DOI: 10.1002/ccr3.7791.
- Deniz E, Pasha M, Guerra M, Viviano S, Ji W, Konstantino M, Jeffries L, Lakhani S, Medne L, Skraban C, Krantz I, Khokha M. CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability. Developmental Biology 2023, 499: 75-88. PMID: 37172641, PMCID: PMC10373286, DOI: 10.1016/j.ydbio.2023.04.006.
- Caron V, Chassaing N, Ragge N, Boschann F, Ngu A, Meloche E, Chorfi S, Lakhani S, Ji W, Steiner L, Marcadier J, Jansen P, van de Pol L, van Hagen J, Russi A, Le Guyader G, Nordenskjöld M, Nordgren A, Anderlid B, Plaisancié J, Stoltenburg C, Horn D, Drenckhahn A, Hamdan F, Lefebvre M, Attie-Bitach T, Forey P, Smirnov V, Ernould F, Jacquemont M, Grotto S, Alcantud A, Coret A, Ferrer-Avargues R, Srivastava S, Vincent-Delorme C, Romoser S, Safina N, Saade D, Lupski J, Calame D, Geneviève D, Chatron N, Schluth-Bolard C, Myers K, Dobyns W, Calvas P, Study T, Salmon C, Holt R, Elmslie F, Allaire M, Prigozhin D, Tremblay A, Michaud J. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta. Genetics In Medicine 2023, 25: 100856. PMID: 37092537, PMCID: PMC10757562, DOI: 10.1016/j.gim.2023.100856.
- Tyler 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.
- Najari 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.
- Mis 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.
- 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.
- Mis 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.
- Amabile 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.
- 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.
- Alharatani 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.
- Landim-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.
- 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. Molecular Case Studies 2019, 5: a003699. PMID: 30819764, PMCID: PMC6549552, DOI: 10.1101/mcs.a003699.
- 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 2018, 62: 103574. PMID: 30439532, DOI: 10.1016/j.ejmg.2018.11.008.
- Elfar 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.
- 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.
- Romberg 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.
- 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 2017, 176: 415-420. PMID: 29266745, DOI: 10.1002/ajmg.a.38557.
- 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: 1563-1577. PMID: 25525875, PMCID: PMC4272443, DOI: 10.1016/j.cell.2014.11.037.
- 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 2012, 339: 218-222. PMID: 23223452, PMCID: PMC3835653, DOI: 10.1126/science.1227568.
- 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.
- 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 2006, 311: 847-851. PMID: 16469926, PMCID: PMC3738210, DOI: 10.1126/science.1115035.
- Lakhani 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.
- Lakhani S, Lu B, Flavell R. Caspase Knockouts: Matters of Life and Death. 2002, 13-35. DOI: 10.1002/3527601457.ch2.
Biography
Saquib Lakhani, MD, clinical director of Yale Medicine’s Pediatric Genomics Discovery Program (PGDP), specializes in caring for newborns and infants with undiagnosed birth defects. As a pediatrician, Dr. Lakhani treats young patients in critical condition and those with chronic health problems.
In his role at the PGDP, Dr. Lakhani works with genetic researchers to understand and interpret the results of patients’ genetic sequencing tests. “The intellectual aspect of my job is incredible,” he says. “I’m constantly exploring, learning, and facing new challenges.” The improvements in genetic sequencing technology allow the team at PGDP to help families answer a haunting question: Why did this happen to my child?
Dr. Lakhani recalls helping a family whose first child was born with heterotaxy, a rare birth defect in which the heart, stomach, intestines, and other organs are located in abnormal places. While mutated genes are suspected to cause heterotaxy, the family did not know which gene might be responsible in their particular case. After sequencing the genome of the parents and child, he discovered a possible culprit. “If the parents want to have another child, then we could, through in vitro fertilization, possibly choose eggs from the mother and sperm from the father without this mutation,” Dr. Lakhani says.
Titles
- Associate Professor Adjunct
- Clinical Director, Pediatric Genomics Discovery Program
Education & Training
- FellowUniversity of Arizona (2011)
- FellowYale University School of Medicine (2003)
- ResidentWashington University / St Louis Children's Hospital (1999)
- MDUniversity of Virginia School of Medicine (1996)
Additional Information
Publications
- Al‐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.
- 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.
- 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 2018, 56: 113. PMID: 30323019, DOI: 10.1136/jmedgenet-2018-105322.
- Kim A, Sakin I, Viviano S, Tuncel G, Aguilera S, Goles G, Jeffries L, Ji W, Lakhani S, Kose C, Silan F, Oner S, Kaplan O, Group M, Ergoren M, Mishra-Gorur K, Gunel M, Sag S, Temel S, Deniz E. CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow. Life Science Alliance 2024, 7: e202402708. PMID: 39168639, PMCID: PMC11339347, DOI: 10.26508/lsa.202402708.
- Bibi A, Ji W, Jeffries L, Zerillo C, Konstantino M, Mis E, Khursheed F, Khokha M, Lakhani S, Malik S. Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders. American Journal Of Medical Genetics Part C Seminars In Medical Genetics 2024, e32103. PMID: 39152716, DOI: 10.1002/ajmg.c.32103.
- Azab B, Aburizeg D, Shaaban S, Ji W, Mustafa L, Isbeih N, Al-Akily A, Mohammad H, Jeffries L, Khokha M, Lakhani S, Al-Ammouri I. Unraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan. Scientific Reports 2024, 14: 15141. PMID: 38956129, PMCID: PMC11219879, DOI: 10.1038/s41598-024-64921-9.
- Khan M, Abdullah, Khan H, Zaman A, Ahmed S, Iqbal P, Bilal M, Ullah K, Hasni M, Ullah I, Mis E, Lakhani S, Ahmad W. A Novel Variant in the Cyto-Tail of SMO Gene Underlying Isolated Postaxial Polydactyly. Molecular Syndromology 2024, 1-7. DOI: 10.1159/000539279.
- Khan F, Khan H, Ullah K, Nawaz S, Abdullah, Khan M, Ahmed S, Ilyas M, Ali A, Ullah I, Sohail A, Hussain S, Ahmad F, Faisal, Sufyan R, Hayat A, Hanif T, Bibi F, Hayat M, Ullah R, Khan I, Ali R, Hasni M, Ali H, Bilal M, Peralta S, Buchert R, Zehri Z, Hassan G, Liaqat K, Zahid M, Shah K, Mikitie O, Haack T, Ji W, Lakhani S, Ansar M, Ahmad W. Clinical and genetic investigation of 14 families with various forms of short stature syndromes. Clinical Genetics 2024, 106: 347-353. PMID: 38774940, DOI: 10.1111/cge.14550.
- Diarra S, Ghosh S, Cissé L, Coulibaly T, Yalcouyé A, Harmison G, Diallo S, Diallo S, Coulibaly O, Schindler A, Cissé C, Maiga A, Bamba S, Samassekou O, Khokha M, Mis E, Lakhani S, Donovan F, Jacobson S, Blackstone C, Guinto C, Landouré G, Bonifacino J, Fischbeck K, Grunseich C. AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia. Neurobiology Of Disease 2024, 198: 106537. PMID: 38772452, PMCID: PMC11209852, DOI: 10.1016/j.nbd.2024.106537.
- Szot J, Cuny H, Martin E, Sheng D, Iyer K, Portelli S, Nguyen V, Gereis J, Alankarage D, Chitayat D, Chong K, Wentzensen I, Vincent-Delormé C, Lermine A, Burkitt-Wright E, Ji W, Jeffries L, Pais L, Tan T, Pitt J, Wise C, Wright H, Andrews I, Pruniski B, Grebe T, Corsten-Janssen N, Bouman K, Poulton C, Prakash S, Keren B, Brown N, Hunter M, Heath O, Lakhani S, McDermott J, Ascher D, Chapman G, Bozon K, Dunwoodie S. A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder. Journal Of Clinical Investigation 2024, 134: e174824. PMID: 38357931, PMCID: PMC10866660, DOI: 10.1172/jci174824.
- Olyha S, O’Connor S, Kribis M, Bucklin M, Uthaya Kumar D, Tyler P, Alam F, Jones K, Sheikha H, Konnikova L, Lakhani S, Montgomery R, Catanzaro J, Du H, DiGiacomo D, Rothermel H, Moran C, Fiedler K, Warner N, Hoppenreijs E, van der Made C, Hoischen A, Olbrich P, Neth O, Rodríguez-Martínez A, Lucena Soto J, van Rossum A, Dalm V, Muise A, Lucas C. “Deficiency in ELF4, X-Linked”: a Monogenic Disease Entity Resembling Behçet’s Syndrome and Inflammatory Bowel Disease. Journal Of Clinical Immunology 2024, 44: 44. PMID: 38231408, PMCID: PMC10929603, DOI: 10.1007/s10875-023-01610-8.
- Jeffries L, Mis E, McWalter K, Donkervoort S, Brodsky N, Carpier J, Ji W, Ionita C, Roy B, Morrow J, Darbinyan A, Iyer K, Aul R, Banka S, Chao K, Cobbold L, Cohen S, Custodio H, Drummond-Borg M, Elmslie F, Finanger E, Hainline B, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach M, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin H, Roeder E, Roy S, Sapp K, Saade D, Sisodiya S, Stals K, Towner S, Wilson W, Disorders D, Borras S, Clark C, Dean J, Miedzybrodzka Z, Ross A, Tennant S, Dabir T, Donnelly D, Humphreys M, Magee A, McConnell V, McKee S, McNerlan S, Morrison P, Rea G, Stewart F, Cole T, Cooper N, Cooper-Charles L, Cox H, Islam L, Jarvis J, Keelagher R, Lim D, McMullan D, Morton J, Naik S, O’Driscoll M, Ong K, Osio D, Ragge N, Turton S, Vogt J, Williams D, Bodek S, Donaldson A, Hills A, Low K, Newbury-Ecob R, Norman A, Roberts E, Scurr I, Smithson S, Tooley M, Abbs S, Armstrong R, Dunn C, Holden S, Park S, Paterson J, Raymond L, Reid E, Sandford R, Simonic I, Tischkowitz M, Woods G, Bradley L, Comerford J, Green A, Lynch S, McQuaid S, Mullaney B, Berg J, Goudie D, Mavrak E, McLean J, McWilliam C, Reavey E, Azam T, Cleary E, Jackson A, Lam W, Lampe A, Moore D, Porteous M, Baple E, Baptista J, Brewer C, Castle B, Kivuva E, Owens M, Rankin J, Shaw-Smith C, Turner C, Turnpenny P, Tysoe C, Bradley T, Davidson R, Gardiner C, Joss S, Kinning E, Longman C, McGowan R, Murday V, Pilz D, Tobias E, Whiteford M, Williams N, Barnicoat A, Clement E, Faravelli F, Hurst J, Jenkins L, Jones W, Kumar V, Lees M, Loughlin S, Male A, Morrogh D, Rosser E, Scott R, Wilson L, Beleza A, Deshpande C, Flinter F, Holder M, Irving M, Izatt L, Josifova D, Mohammed S, Molenda A, Robert L, Roworth W, Ruddy D, Ryten M, Yau S, Bennett C, Blyth M, Campbell J, Coates A, Dobbie A, Hewitt S, Hobson E, Jackson E, Jewell R, Kraus A, Prescott K, Sheridan E, Thomson J, Bradshaw K, Dixit A, Eason J, Haines R, Harrison R, Mutch S, Sarkar A, Searle C, Shannon N, Sharif A, Suri M, Vasudevan P, Canham N, Ellis I, Greenhalgh L, Howard E, Stinton V, Swale A, Weber A, Banka S, Breen C, Briggs T, Burkitt-Wright E, Chandler K, Clayton-Smith J, Donnai D, Douzgou S, Gaunt L, Jones E, Kerr B, Langley C, Metcalfe K, Smith A, Wright R, Bourn D, Burn J, Fisher R, Hellens S, Henderson A, Montgomery T, Splitt M, Straub V, Wright M, Zwolinski S, Allen Z, Bernhard B, Brady A, Brooks C, Busby L, Clowes V, Ghali N, Holder S, Ibitoye R, Wakeling E, Blair E, Carmichael J, Cilliers D, Clasper S, Gibbons R, Kini U, Lester T, Nemeth A, Poulton J, Price S, Shears D, Stewart H, Wilkie A, Albaba S, Baker D, Balasubramanian M, Johnson D, Parker M, Quarrell O, Stewart A, Willoughby J, Crosby C, Elmslie F, Homfray T, Jin H, Lahiri N, Mansour S, Marks K, McEntagart M, Saggar A, Tatton-Brown K, Butler R, Clarke A, Corrin S, Fry A, Kamath A, McCann E, Mugalaasi H, Pottinger C, Procter A, Sampson J, Sansbury F, Varghese V, Baralle D, Callaway A, Cassidy E, Daniels S, Douglas A, Foulds N, Hunt D, Kharbanda M, Lachlan K, Mercer C, Side L, Temple I, Wellesley D, Consortium G, Ambrose J, Arumugam P, Baple E, Bleda M, Boardman-Pretty F, Boissiere J, Boustred C, Caulfield M, Chan G, Craig C, Daugherty L, de Burca A, Devereau A, Elgar G, Foulger R, Fowler T, FurióTarí P, Hackett J, Halai D, Hamblin A, Henderson S, Holman J, Hubbard T, Ibáñez K, Jackson R, Jones L, Kasperaviciute D, Kayikci M, Lahnstein L, Lawson K, Leigh S, Leong I, Lopez F, MaleadyCrowe F, Mason J, McDonagh E, Moutsianas L, Mueller M, Murugaesu N, Need A, Odhams C, Patch C, Perez-Gil D, Polychronopoulos D, Pullinger J, Rahim T, Rendon A, Riesgo-Ferreiro P, Rogers T, Ryten M, Savage K, Sawant K, Scott R, Siddiq A, Sieghart A, Smedley D, Smith K, Sosinsky A, Spooner W, Stevens H, Stuckey A, Sultana R, Thomas E, Thompson S, Tucci A, Walsh E, Watters S, Welland M, Williams E, Witkowska K, Network U, Acosta M, Adam M, Adams D, Agrawal P, Alejandro M, Alvey J, Amendola L, Andrews A, Ashley E, Azamian M, Bacino C, Bademci G, Baker E, Balasubramanyam A, Baldridge D, Bale J, Bamshad M, Barbouth D, Bayrak-Toydemir P, Beck A, Beggs A, Behrens E, Bejerano G, Bennet J, Berg-Rood B, Bernstein J, Berry G, Bican A, Bivona S, Blue E, Bohnsack J, Bonnenmann C, Bonner D, Botto L, Boyd B, Briere L, Brokamp E, Brown G, Burke E, Burrage L, Butte M, Byers P, Byrd W, Carey J, Carrasquillo O, Chang T, Chanprasert S, Chao H, Clark G, Coakley T, Cobban L, Cogan J, Coggins M, Cole F, Colley H, Cooper C, Craigen W, Crouse A, Cunningham M, D'Souza P, Dai H, Dasari S, Davids M, Dayal J, Deardorff M, Dell'Angelica E, Dhar S, Dipple K, Doherty D, Dorrani N, Douine E, Draper D, Duncan L, Earl D, Eckstein D, Emrick L, Eng C, Esteves C, Estwick T, Falk M, Fernandez L, Ferreira C, Fieg E, Findley L, Fisher P, Fogel B, Forghani I, Fresard L, Gahl W, Glass I, Godfrey R, Golden-Grant K, Goldman A, Goldstein D, Grajewski A, Groden C, Gropman A, Gutierrez I, Hahn S, Hamid R, Hanchard N, Hassey K, Hayes N, High F, Hing A, Hisama F, Holm I, Hom J, Horike-Pyne M, Huang A, Huang Y, Isasi R, Jamal F, Jarvik G, Jarvik J, Jayadev S, Johnston J, Karaviti L, Kelley E, Kennedy J, Kiley D, Kohane I, Kohler J, Krakow D, Krasnewich D, Kravets E, Korrick S, Koziura M, Krier J, Lalani S, Lam B, Lam C, Lanpher B, Lanza I, Lau C, LeBlanc K, Lee B, Lee H, Levitt R, Lewis R, Lincoln S, Liu P, Liu X, Longo N, Loo S, Loscalzo J, Maas R, Macnamara E, MacRae C, Maduro V, Majcherska M, Mak B, Malicdan M, Mamounas L, Manolio T, Mao R, Maravilla K, Markello T, Marom R, Marth G, Martin B, Martin M, Martínez-Agosto J, Marwaha S, McCauley J, McCormack C, McCray A, McGee E, Mefford H, Merritt J, Might M, Mirzaa G, Morava E, Moretti P, Morimoto M, Mulvihill J, Murdock D, Nakano-Okuno M, Nath A, Nelson S, Newman J, Nicholas S, Nickerson D, Nieves-Rodriguez S, Novacic D, Oglesbee D, Orengo J, Pace L, Pak S, Pallais J, Papp J, Parker N, Phillips J, Posey J, Potocki L, Pusey B, Quinlan A, Raskind W, Raja A, Rao D, Renteria G, Reuter C, Rives L, Robertson A, Rodan L, Rosenfeld J, Rosenwasser N, Ruzhnikov M, Sacco R, Sampson J, Samson S, Saporta M, Scott C, Schaechter J, Schedl T, Scott D, Sharma P, Shin J, Signer R, Sillari C, Silverman E, Sinsheimer J, Sisco K, Smith E, Smith K, Solem E, Solnica-Krezel L, Stoler J, Stong N, Sullivan J, Sun A, Sutton S, Sweetser D, Sybert V, Tabor H, Tamburro C, Tekin M, Telischi F, Thorson W, Tifft C, Toro C, Tran A, Tucker B, Urv T, Vanderver A, Velinder M, Viskochil D, Vogel T, Wahl C, Wallace S, Walley N, Walsh C, Walker M, Wambach J, Wan J, Wang L, Wangler M, Ward P, Wegner D, Wener M, Wenger T, Perry K, Westerfield M, Wheeler M, Whitlock J, Wolfe L, Woods J, Yamamoto S, Yang J, Yu G, Zastrow D, Zhao C, Zuchner S, Khokha M, Bönnemann C, Lucas C, Lakhani S. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections. Genetics In Medicine 2023, 26: 101023. PMID: 37947183, PMCID: PMC10932913, DOI: 10.1016/j.gim.2023.101023.
- Ali A, Abdullah, Bilal M, Mis E, Lakhani S, Ahmad W, Ullah I. Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families. Molecular Biology Reports 2023, 50: 9963-9970. PMID: 37897612, DOI: 10.1007/s11033-023-08816-4.
- Abdullah, Hussain S, Ji W, Khan H, Mis E, Mushtaq R, Chodhary M, Raza M, Jan A, Ullah I, Khokha M, Lakhani S, Ahmad W. Sequence variants in DLX5, HOXD13 and 445 kb‐microduplication surrounding BTRC cause split‐hand/foot malformation in three different families. Clinical Genetics 2023, 105: 109-111. PMID: 37776184, DOI: 10.1111/cge.14430.
- Bondarenko A, Boyarchuk O, Sakovich I, Polyakova E, Migas A, Kupchinskaya A, Opalinska A, Reich A, Volianska L, Hilfanova A, Lapiy F, Chernyshova L, Volokha A, Zabara D, Belevtsev M, Shman T, Kukharenko L, Goltsev M, Dubouskaya T, Hancharou A, Ji W, Lakhani S, Lucas C, Aleinikova O, Sharapova S. Variable CD18 expression in a 22‐year‐old female with leukocyte adhesion deficiency I: Clinical case and literature review. Clinical Case Reports 2023, 11: e7791. PMID: 37601427, PMCID: PMC10432584, DOI: 10.1002/ccr3.7791.
- Deniz E, Pasha M, Guerra M, Viviano S, Ji W, Konstantino M, Jeffries L, Lakhani S, Medne L, Skraban C, Krantz I, Khokha M. CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability. Developmental Biology 2023, 499: 75-88. PMID: 37172641, PMCID: PMC10373286, DOI: 10.1016/j.ydbio.2023.04.006.
- Caron V, Chassaing N, Ragge N, Boschann F, Ngu A, Meloche E, Chorfi S, Lakhani S, Ji W, Steiner L, Marcadier J, Jansen P, van de Pol L, van Hagen J, Russi A, Le Guyader G, Nordenskjöld M, Nordgren A, Anderlid B, Plaisancié J, Stoltenburg C, Horn D, Drenckhahn A, Hamdan F, Lefebvre M, Attie-Bitach T, Forey P, Smirnov V, Ernould F, Jacquemont M, Grotto S, Alcantud A, Coret A, Ferrer-Avargues R, Srivastava S, Vincent-Delorme C, Romoser S, Safina N, Saade D, Lupski J, Calame D, Geneviève D, Chatron N, Schluth-Bolard C, Myers K, Dobyns W, Calvas P, Study T, Salmon C, Holt R, Elmslie F, Allaire M, Prigozhin D, Tremblay A, Michaud J. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta. Genetics In Medicine 2023, 25: 100856. PMID: 37092537, PMCID: PMC10757562, DOI: 10.1016/j.gim.2023.100856.
- Tyler 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.
- Najari 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.
- Mis 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.
- 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.
- Mis 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.
- Amabile 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.
- 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.
- Alharatani 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.
- Landim-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.
- 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. Molecular Case Studies 2019, 5: a003699. PMID: 30819764, PMCID: PMC6549552, DOI: 10.1101/mcs.a003699.
- 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 2018, 62: 103574. PMID: 30439532, DOI: 10.1016/j.ejmg.2018.11.008.
- Elfar 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.
- 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.
- Romberg 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.
- 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 2017, 176: 415-420. PMID: 29266745, DOI: 10.1002/ajmg.a.38557.
- 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: 1563-1577. PMID: 25525875, PMCID: PMC4272443, DOI: 10.1016/j.cell.2014.11.037.
- 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 2012, 339: 218-222. PMID: 23223452, PMCID: PMC3835653, DOI: 10.1126/science.1227568.
- 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.
- 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 2006, 311: 847-851. PMID: 16469926, PMCID: PMC3738210, DOI: 10.1126/science.1115035.
- Lakhani 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.
- Lakhani S, Lu B, Flavell R. Caspase Knockouts: Matters of Life and Death. 2002, 13-35. DOI: 10.1002/3527601457.ch2.