Saquib A. Lakhani, MD
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Clinical Director, Pediatric Genomics Discovery Program
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Appointments
Titles
Clinical Director, Pediatric Genomics Discovery Program
Contact Info
Appointments
Titles
Clinical Director, Pediatric Genomics Discovery Program
Contact Info
About
Titles
Associate Professor Term
Clinical Director, Pediatric Genomics Discovery ProgramAppointments
Pediatric Critical Care Medicine
Associate Professor on TermPrimary
Other Departments & Organizations
- Pediatric Critical Care Medicine
- Pediatric Critical Care Transport Program
- Pediatric Genomics Discovery Program (PGDP)
- Pediatrics
- Yale Medicine
Education & Training
- Fellow
- University of Arizona (2011)
- Fellow
- Yale University School of Medicine (2003)
- Resident
- Washington University / St Louis Children's Hospital (1999)
- MD
- University of Virginia School of Medicine (1996)
Research
Overview
Medical Subject Headings (MeSH)
Congenital Abnormalities; Developmental Biology; Genetic Diseases, Inborn; Genetics; Genetics, Medical; Heart Defects, Congenital; Integrative Medicine; Pediatrics; Seizures
ORCID
0000-0003-3235-3460
Research at a Glance
Yale Co-Authors
Frequent collaborators of Saquib A. Lakhani's published research.
Publications Timeline
A big-picture view of Saquib A. Lakhani's research output by year.
Research Interests
Research topics Saquib A. Lakhani is interested in exploring.
Weizhen Ji, PhD, FACMG
Lauren Jeffries, DO
Monica Konstantino, RN
Carrie L Lucas, PhD
Michele Spencer-Manzon, MD
Mustafa Khokha, MD
36Publications
2,660Citations
Heart Defects, Congenital
Seizures
Publications
Featured Publications
A retrospective cohort analysis of the Yale pediatric genomics discovery program
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.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsRetrospective cohort analysisNext-generation sequencingCohort analysisSystem abnormalitiesImmune system abnormalitiesCardiovascular system abnormalitiesFunctional molecular analysesNovel genesPrecise molecular diagnosisClinical characteristicsFurther genetic evaluationDiscovery programsComplex patientsMultisystem diseaseDisease genesPediatric providersRare genetic diseaseNew diagnosisPhenotype relationshipsPatientsGenetic diseasesMolecular analysisDiagnosisParticipant demographicsNGS resultsRethinking 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.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsPediatric intensivistsIll childrenCritical care pediatriciansFirst clinical diagnosisTypes of patientsWhole-exome sequencingSevere congenital diseaseUnderlying genetic causePatient's conditionIllness perspectiveUndiagnosed diseasePatientsDescriptive diagnosisClinical diagnosisCongenital diseaseGenetic testingGenetic abnormalitiesDiagnosisExome sequencingGenetic causeNext-generation sequencingClinical geneticistsIntensivistsGenetic diagnosisDiseaseDe 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 2018, 56: 113. PMID: 30323019, DOI: 10.1136/jmedgenet-2018-105322.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsEarly infantile epileptic encephalopathyInfantile epileptic encephalopathyEpileptic encephalopathyPatient variantsDe novo pathogenic variantsNovel de novo variantNovo pathogenic variantsEarly-onset refractory seizuresDifferentiation factor 2Whole-exome sequencingNeuronal differentiation factorRefractory seizuresSignificant developmental delaySpontaneous seizuresUnderlying etiologyEctopic neuronsDe novo variantsPatient's conditionEncephalopathyPathogenic variantsSevere disordersDevelopmental delayUnrelated childrenExome sequencingGene mutations
2024
Unraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan
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.Peer-Reviewed Original ResearchMeSH Keywords and ConceptsConceptsExome sequencingSarcomere-related genesMitochondrial-related diseasesAt-risk family membersGenetic architectureGenetic landscapePathogenic variantsGene panelPediatric cardiomyopathyMolecular underpinningsGenetic testingPhenocopiesSarcomeric cardiomyopathiesGenesSequenceStorage disorderFamily membersAt-riskVariantsEarly interventionExomeFamilyGlycogen storage disorderHypertrophic cardiomyopathyCardiomyopathyA Novel Variant in the Cyto-Tail of SMO Gene Underlying Isolated Postaxial Polydactyly
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.Peer-Reviewed Original ResearchConceptsHomozygous missense variantWhole-exome sequencingHereditary limb malformationsSonic hedgehog pathwayAutosomal recessive mannerSequence variantsMissense variantsProtein foldingIsolated postaxial polydactylyExome sequencingSegregation analysisNovel variantsConsanguineous familySanger sequencingSMO genesExtra digitsHomology modelingCellular differentiationHedgehog pathwayRecessive mannerEmbryonic cellsPostaxial polydactylySequencePreaxial polydactylyVariantsClinical and genetic investigation of 14 families with various forms of short stature syndromes
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 PMID: 38774940, DOI: 10.1111/cge.14550.Peer-Reviewed Original ResearchAltmetricConceptsSyndromic forms of short statureFamilies of Pakistani originDisease-causing gene variantsSyndromic formsWhole-exome sequencingSequence variantsHomozygosity mappingIdentified genesExome sequencingAutosomal dominant mannerSanger sequencingXRCC4 geneMutation spectrumGenetic etiologyGenetic investigationsLethal defectShort statureGene variantsGenesDominant mannerReduced growthShort stature syndromeHeterogeneous group of disordersSequenceGroup of disordersAP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia
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.Peer-Reviewed Original ResearchAltmetricConceptsHereditary spastic paraplegiaPatient-derived neuronsAdaptor proteinEndocytosis of transferrin receptorsSpastic paraplegiaXenopus tropicalis tadpolesNeuronal cellsHomozygous missense variantWhole-exome sequencingMalian familyComplicated hereditary spastic paraplegiaMissense variantsExome sequencingAccessory proteinsGroup of neurogenetic disordersDefective endocytosisWestern blot analysisProgressive lower extremity spasticityGenetic diagnosisGenetic testingBlot analysisAP2A2Neurological evaluationFrog modelEndocytosisA metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder
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.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsCongenital NAD deficiency disorderNicotinamide adenine dinucleotideBiallelic loss-of-function variantsLoss-of-function variantsPrecursor supplementationNAD precursor supplementationStructures modelled in silicoNonredundant enzymesMetabolic signaturesNAD metabolomeNicotinamide adenine dinucleotide levelsDeficiency disordersPrevent adverse pregnancy outcomesSynthesis pathwayAdverse pregnancy outcomesModel in silicoNAD precursorsMetabolic blockEmbryonic developmentImproving clinical diagnosticsAdenine dinucleotideAbsence of malformationsPregnancy outcomesCongenital malformationsMalformations“Deficiency in ELF4, X-Linked”: a Monogenic Disease Entity Resembling Behçet’s Syndrome and Inflammatory Bowel Disease
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.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsDEX patientsClass-switched memory B cellsInborn errors of immunityTreated with anti-inflammatory agentsLow natural killerX-linkedMemory B cellsErrors of immunityCohort of patientsIncreased inflammatory cytokinesLoss-of-function variantsHeterogeneous clinical phenotypesInflammatory bowel diseaseTargeted therapeutic interventionsNatural killerAnti-inflammatory agentsAphthous ulcersTherapeutic responseAutoinflammatory syndromeInflammatory markersClinical manifestationsB cellsBehcet's syndromeGastrointestinal symptomsMechanisms of disease
2023
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
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.Peer-Reviewed Original ResearchCitationsAltmetricConceptsPeripheral blood mononuclear cellsPatient's immune cellsBlood mononuclear cellsImmune cell subtypesEarly-onset epilepsyAffected individualsInduced seizuresCardiac dysrhythmiasRecurrent infectionsClinical syndromeFrequent infectionsMononuclear cellsPatient cohortImmune cellsMultisystem syndromeHealthy donorsMultisystem disorderCardiac arrhythmiasBiallelic variantsCell subtypesDevelopmental delayGene variantsProtein overexpressionRecessive variantsMissense variants
Clinical Trials
Current Trials
Pediatric Genomics Discovery Program (PGDP)
HIC ID1411014977RoleSub InvestigatorPrimary Completion Date12/31/2023Recruiting ParticipantsGenderBoth
Clinical Care
Overview
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.
Clinical Specialties
Pediatric Critical Care Medicine; Genetics; Pediatrics
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- June 24, 2024Source: Yale News
Advanced Genetic Tools Help Researchers ID New Neurodevelopmental Syndrome
- March 25, 2024Source: OMIM
JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME; JELANS
- July 26, 2023
2022-23 Department of Pediatrics Faculty Awards
- May 12, 2023
Yale Program Accepted Into NORD Rare Diseases Centers of Excellence Network
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