Pediatrics / Genetics Division / Research Publications Research Publications Asokan KLLandes JRRenders WMuiño Mosquera LDe Backer JJantzen DWYetman ATTeixido-Tura GEvangelista AJeremy RJones EGMorris SDoan TOuzonian MBraverman AJondeau GMilleron OMilewicz DMPrakash SK Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.; Journal of the American Heart Association. 2024 Oct 18. Chattannavar GGer MBalasubramanian JMandal SJalali STakkar BPisuchpen Pde Guimaraes TACCapasso JEKumar Padhy SLevin AV Bardet-biedl syndrome with chorioretinal coloboma: a case series and review of literature.; Ophthalmic genetics. 2024 Oct 15. Beldick SRRockter ABeck ADLevin AV The Robison D. Harley, MD Childhood Glaucoma Research Network International Pediatric Glaucoma Registry: The First 872 Cases.; Ophthalmology. Glaucoma. 2024 Oct 08. Landau TGamrasni KLevin ABarlev YSanders OBenor SBrandwein M Development and Validation of a Prognostic Clinical Risk Score for Subsequent Atopic Dermatitis Risk.; Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology. 2024 Sep 24. Wong BMLevin AV Does COVID-19 cause retinal hemorrhage?; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2024 Sep 23. Zhou YShoala TSKline ADFrancomano CACollins MLZFerguson MBilliet JSunness JSBianchi MPayne SGuan BYousaf SLevin AV Ophthalmic findings in Alström syndrome.; Ophthalmic genetics. 2024 Sep 12. Mandel MElhusseiny AMDavidson SLRockter ALevin AVHuang LCCheung CSYStahl EDCooper AMJin JInger HEJordan COJung JLUtz VMAngeles-Han STOke INihalani BR Clinical outcomes in paediatric tubulointerstitial nephritis and uveitis syndrome (TINU).; Eye (London, England). 2024 Jul 31. Jurgens JABarry BJChan WMMacKinnon SWhitman MCMatos Ruiz PMPratt BMEngland EMPais LLemire GGroopman EGlaze CRussell KASinger-Berk MDi Gioia SALee ASAndrews CShaaban SWirth MMBekele SToffoloni MBradford VRFoster EEBerube LRivera-Quiles CMensching FMSanchis-Juan AFu JMWong IZhao XWilson MWWeisburd BLek MBrand HTalkowski MEMacArthur DGO'Donnell-Luria ARobson CDHunter DGEngle EC Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.; Genetics in medicine : official journal of the American College of Medical Genetics. 2024 Jul 17. Landau TGamrasni KLevin ABarlev YSanders OBenor SBrandwein M DEVELOPMENT OF A PREDICTIVE MODEL FOR PEDIATRIC ATOPIC DERMATITIS - A RETROSPECTIVE CROSS-SECTIONAL NATIONWIDE DATABASE STUDY.; Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology. 2024 Jun 18. Rigter PMFde Konink CDunn MJProietti Onori MHumberson JBThomas MBarnes CPrada CEWeaver KNRyan TDCaluseriu OConway JCalamaro EFong CTWuyts WMeuwissen MHordijk EJonkers CNAnderson LYuseinova BPolonia SBeysen DStark ZSavva EPoulton CMcKenzie FBhoj EBupp CPBézieau SMercier SBlevins AWentzensen IMXia FRosenfeld JAHsieh TCKrawitz PMElbracht MVeenma DCMSchulman HStratton MMKüry Svan Woerden GM Role of CAMK2D in neurodevelopment and associated conditions.; American journal of human genetics; Vol 111(2), pp. 364-382. 2024 Jan 24. Bello NRPisuchpen Pde Guimarães TACCapasso JELevin AV TWO CASES OF CRB1-RELATED RETINAL DYSTROPHY ASSOCIATED WITH RETINAL MASSES.; Retinal cases & brief reports; Vol 17(6), pp. 714-718. 2023 Nov 01. Cevik SWangtiraumnuay NVan Schelvergem KTsukikawa MCapasso JBiswas SBBodt BLevin AVBiswas-Fiss E Protein modeling and in silico analysis to assess pathogenicity of ABCA4 variants in patients with inherited retinal disease.; Molecular vision; Vol 29, pp. 217-233. 2023 Oct 25. Sklar BAPisuchpen PBareket MMilman TEagle RCMinor JProcopio RCapasso JLevin AVHammersmith K Identification and Management of a Novel PRDM5 Gene Pathologic Variant in a Family With Brittle Cornea Syndrome.; Cornea. 2023 Sep 15. Paredes DICapasso JEWyman CSLevin AV Genetics of the anterior segment dysgenesis.; Taiwan journal of ophthalmology; Vol 13(4), pp. 500-504. 2023 Jul 18. Okoye OCapasso JKopinsky SMAmlie-Wolf LLevin AVSchneider A SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum.; American journal of medical genetics. Part A. 2023 May 10. Basta MDPetruk SSummer RRosenbloom JWermuth PJMacarak ELevin AVMazo AWalker JL Changes in nascent chromatin structure regulate activation of the pro-fibrotic transcriptome and myofibroblast emergence in organ fibrosis.; iScience; Vol 26(5), pp. 106570. 2023 Apr 06. Macalino AJPorter RSSmith LWang HLevin AV A study of disparities in access to genetic care pre- and post-pandemic.; American journal of medical genetics. Part A. 2023 Mar 27. Macher JPorter RSLevin AV Ophthalmic imaging in abusive head trauma.; Child abuse & neglect; Vol 139, pp. 106106. 2023 Mar 01. Paredes DIHaefeli LMOkoye OCapasso JEWyman CKhetan VLevin AV Genetic testing: Getting it right.; Oman journal of ophthalmology; Vol 16(1), pp. 1-3. 2023 Feb 21. Al-Holou SNWong MOMZhang QESharpe JELevin AV Clinical outcomes in children and adolescents referred for increased cup:disk ratio at a tertiary referral center.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2023 Feb 15. Sokoloff MFeldman KWLevin AVRockter AArmijo-Garcia VMusick MWeeks KHaney SBMarinello MHerman BEFrazier TNCarroll CLHymel KP Retinal hemorrhage variation in inertial versus contact head injuries.; Child abuse & neglect; Vol 149, pp. 106606. 2023 Jan 21. Mathenge WCBello NRHess OMDangou JMNkurikye JLevin AV Use of the World Health Organization primary eye care protocol to investigate the ocular health status of school children in Rwanda.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2023 Jan 13. Khosravi PHuck NAShahraki KHunter SCDanza CNKim SYForbes BJDai SLevin AVBinenbaum GChang PDSuh DW Deep Learning Approach for Differentiating Etiologies of Pediatric Retinal Hemorrhages: A Multicenter Study.; International journal of molecular sciences; Vol 24(20). 2023 Jan 12. Paredes DIBello NRCapasso JEProcopio RLevin AV Mutations in AGBL5 associated with Retinitis pigmentosa.; Ophthalmic genetics. 2023 Jan 11. Albakri APisuchpen PCapasso JESchneider AKopinsky SGlaser TChiang JPYomai AAMcNear DLevin AV Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.; American journal of medical genetics. Part A. 2023 Jan 03. Lucari BTallis ESutton VRPorea T Dual enzyme therapy improves adherence to chemotherapy in a patient with gaucher disease and Ewing sarcoma.; Pediatric hematology and oncology. 2022 Sep 20. van der Ende SRMeyers BSCapasso JESasongko MYonekawa YPihlblad MHuey JBedoukian ECKrantz IDNgo MHMcMaster CRLevin AVRobitaille JM Severe Familial Exudative Vitreoretinopathy, Congenital Hearing Loss, and Developmental Delay in a Child With Biallelic Variants in FZD4.; JAMA ophthalmology. 2022 Aug 11. Reis LMMaheshwari MCapasso JAtilla HDudakova LThompson SZitano LLay-Son GLowry RBBlack JLee JShue AKremlikova Pourova RVaneckova MSkalicka PJedlickova JTrkova MWilliams BRichard GBachman KSeeley AHCostakos DGlaser TMLevin AVLiskova PMurray JCSemina EV Axenfeld-Rieger syndrome: more than meets the eye.; Journal of medical genetics. 2022 Jul 26. Krauss EMacher JCapasso JBernhardt BAli-KhanCatts ZLevin ABrandt R Experiences of genetic testing among individuals with retinitis pigmentosa.; Ophthalmic genetics. 2022 Jul 07. Tallis EKarsenty CLGrimes ABKaram LBElsea SHSutton VRRawls-Castillo BLLiu NSoler-Alfonso C Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment.; JIMD reports; Vol 63(4), pp. 309-315. 2022 May 22. Bello NRLaMattina KCMinor JMUtz VMDong KLevin AV The risk of uveitis due to prostaglandin analogs in pediatric glaucoma.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2022 May 09. Chung CWLevin AVForbes BJBinenbaum G Retinal hemorrhage after pediatric neurosurgical procedures.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2022 Mar 15. Kurtz KJTallis EMarcogliese ANPulivarthi RHPotocki LStevens AM Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein-Taybi Syndrome.; Pediatric hematology and oncology; Vol 39(8), pp. 747-754. 2022 Mar 11. Tallis EScollon SRitter DIPlon SE Evolution of germline TP53 variant classification in children with cancer.; Cancer genetics; Vol 264-265, pp. 29-32. 2022 Mar 03. Ernst JMedsinge AScanga HLHiasat JMoore WAli ALevin AVStahl EDNischal KK Congenital primary aphakia.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2022 Jan 17. Okur VChen ZVossaert LPeacock SRosenfeld JZhao LDu HCalamaro EGerard AZhao SKelsay JLahr AMighton CPorter HMSiemon ASilver JSvihovec SFong CTGrant CLLerner-Ellis JManickam KMadan-Khetarpal SMcCandless SEMorel CFSchaefer GBBerry-Kravis EMGates RGomez-Ospina NQiu GZhang TJWu ZMeng LLiu PScott DALupski JREng CMWu NYuan B De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.; NPJ genomic medicine; Vol 6(1), pp. 104. 2021 Dec 07. Fasham JLin SGhosh PRadio FCFarrow EGThiffault IKussman JZhou DHemming RZahka KChioza BARawlins LEWenger OKGunning ACPizzi SOnesimo RZampino GBarker EOsawa NRodriguez MCNeuhann TMZackai EHKeena BCapasso JLevin AVBhoj ELi DHakonarson HWentzensen IMJackson AChandler KECoban-Akdemir ZHPosey JEBanka SLupski JRSheppard SETartaglia MTriggs-Raine BCrosby AHBaple EL Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.; Genetics in medicine : official journal of the American College of Medical Genetics. 2021 Nov 30. Lu STallis EDing XLi DCox KYou MJSt John LAlatrash GMa QMolldrem JJ Novel myeloperoxidase-derived HLA-A2-restricted peptides as therapeutic targets against myeloid leukemia.; Cytotherapy; Vol 23(9), pp. 793-798. 2021 Jun 30. Reis LMSorokina EADudakova LMoravikova JSkalicka PMalinka FSeese SEThompson SBardakjian TCapasso JAllen WGlaser TLevin AVSchneider AKhan ALiskova PSemina EV Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.; Human molecular genetics. 2021 May 27. Thau ASaffren BAnderst JDCarpenter SLLevin AV A review on clotting disorders and retinal hemorrhages: Can they mimic abuse?; Child abuse & neglect; Vol 118. 2021 May 25. Keehan LJiang MMLi XMarom RDai HMurdock DLiu PHunter JVHeaney JDRobak LEmrick LLotze TBlieden LSLewis RALevin AVCapasso JCraigen WJRosenfeld JALee BBurrage LC A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.; American journal of medical genetics. Part A. 2021 May 05. Saffren BPrice JMZhang QEHamershock RASharpe JLevin AV Falsely high rebound tonometry.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2021 Apr 23. Ramirez MKCMinor JMLevin AVPaysse EAWasserman BN Persistent epithelial defect after photorefractive keratectomy in a patient with autism.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2021 Apr 22. Saffren BDYassin SHGeddie BEde Faber JTHNBlieden LSBhate MGamio SRutar TLevin AV Optic Nerve Aplasia.; Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society. 2021 Apr 14. Nassisi MSmirnov VHernandez CSMohand-Saïd SCondroyer CAntonio AKühlewein LKempf MKohl SWissinger BNasser FRagi SDWang NKSparrow JRGreenstein VMichalakis SMahroo OBa-Abbad RMichaelides MWebster AREsposti SDSaffren BCapasso JLevin AHauswirth WWDhaenens CMDefoort-Dhellemmes STsang SHZrenner ESahel JAPetersen-Jones SZeitz CAudo I CNGB1-related rod-cone dystrophy: a mutation review and update.; Human mutation. 2021 Apr 12. Menko ASDeDreu JLogan CMPaulson HLevin AVWalker JL Resident immune cells of the avascular lens: Mediators of the injury and fibrotic response of the lens.; FASEB journal : official publication of the Federation of American Societies for Experimental Biology; Vol 35(4). 2021 Apr. Smegal LFSebold AJHammill AMJuhász CLo WDMiles DKWilfong AALevin AVFisher BBall KLPinto ALComi AM Multicenter Research Data of Epilepsy Management in Patients With Sturge-Weber Syndrome.; Pediatric neurology; Vol 119. 2021 Mar 05. Chung SASnitzer MPrioli KMPizzi LTZhang QLevin AV Reducing the Costs of an Eye Care Adherence Program for Underserved Children Referred Through Inner-City Vision Screenings.; American journal of ophthalmology. 2021 Feb 11. Thau ASaffren BZakrzewski HAnderst JDCarpenter SLLevin A Retinal hemorrhage and bleeding disorders in children: A review.; Child abuse & neglect; Vol 112. 2021 Jan 02. Ibanez MBde Guimarães TACCapasso JBello NLevin AV Stargardt misdiagnosis: How ocular genetics helps.; American journal of medical genetics. Part A. 2020 Dec 24. Rapuano PBLevin AVPrice JMMyers JSLee DShukla AG Early Experience with Netarsudil in Pediatric Patients: A Retrospective Case Series.; Ophthalmology. Glaucoma. 2020 Oct 13. Craig CPCalamaro EFong CTIqbal AMPaciorkowski ARZhang B Diagnosis of FOXG1 syndrome caused by recurrent balanced chromosomal rearrangements: case study and literature review.; Molecular cytogenetics; Vol 13(1). 2020 Sep 03. Silverstein MScharf KMayro ELHark LASnitzer MAnhalt JPond MSiam LTran JHill-Bennett TZhan TLevin AV Referral outcomes from a vision screening program for school-aged children.; Canadian journal of ophthalmology. Journal canadien d'ophtalmologie. 2020 Aug 06. Saffren BYassin SHGuo SCordovez JALevin AV Treatment of Port Wine Birthmarks in Sturge-Weber Syndrome Using Topical Timolol.; Journal of pediatric ophthalmology and strabismus; Vol 58. 2020 Feb 22. Hark LAThau ANutaitis AMayro ELZhan TDabbish NTran JSiam LPond MRice ARLevin AV Impact of eyeglasses on academic performance in primary school children.; Canadian journal of ophthalmology. Journal canadien d'ophtalmologie; Vol 55(1). 2020 Feb. Abed Alnabi WTang GJEagle RCGulino SThau ALevin AV PATHOLOGY OF PERIMACULAR FOLDS DUE TO VITREORETINAL TRACTION IN ABUSIVE HEAD TRAUMA.; Retina (Philadelphia, Pa.); Vol 39(11). 2019 Nov. Wang QThau ALevin AVLee D Ocular hypotony: A comprehensive review.; Survey of ophthalmology; Vol 64(5). 2019 Sep. Thau ADawodu OMireskandari KAli ATehrani NDeBenedictis CBhoiwala DAultman WAlnabi WALeiby BELevin AV Central Corneal Thickness in Childhood Cataract.; Cornea; Vol 38(8). 2019 Aug. Drack AVMiraldi Utz VWang KAlcorn DMBrooks BPCostakos DMCouser NLHeon ELevin AVLloyd ICMorse CLSchmitt MAWhitman MCTraboulsi EI Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 23(4). 2019 Aug. Thau ATsukikawa MWangtiraumnuay NCapasso JAffel EAlnabi WAAdam MAlsulaiman SMSpirn MLevin AV Optical Coherence Tomography in Knobloch Syndrome.; Ophthalmic surgery, lasers & imaging retina; Vol 50(8). 2019 Aug 01. Corwin AMRajkumar JNMarkovitz BJThau AWisner DMSpandorfer JMLeiby BEBailey RSpaeth GLLevin AV Association of Preoperative Disclosure of Resident Roles With Informed Consent for Cataract Surgery in a Teaching Program.; JAMA ophthalmology. 2019 Jul 25. Day AMMcCulloch CEHammill AMJuhász CLo WDPinto ALMiles DKFisher BJBall KLWilfong AALevin AVThau AJComi AMKoenig JILawton MTMarchuk DAMoses MAFreedman SFPevsner J Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome.; Pediatric neurology; Vol 96. 2019 Jul. Guimaraes TACCapasso JELevin AV Paradoxical response to carbonic anhydrase inhibitors in patients with intraretinal cystoid spaces.; Ophthalmic genetics; Vol 40(3). 2019 Jun. Sethi SThau AKaplan PAsher SBLevin AV Glaucoma and degenerative vitreoretinopathy in a girl with Nicolaides-Baraitser syndrome.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 23(3). 2019 Jun. Tallis ELoghavi SJorgensen JLWang SKhoury JDBueso-Ramos CBJain NBorthakur GPemmaraju N Patient with mixed-phenotype acute leukemia with CBFB rearrangement.; Leukemia & lymphoma; Vol 60(11), pp. 2829-2831. 2019 Apr 23. Ganesh AEdmond JForbes BKatowitz WRNischal KKMiller MLevin AV An update of ophthalmic management in craniosynostosis.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 23(2). 2019 Apr. Shi AKulkarni AFeldman KWWeiss AMcCourt EASchloff SPartington MForbes BGeddie BEBierbrauer KPhillips PHRogers DLAbed Alnabi WBinenbaum GLevin AV Retinal Findings in Young Children With Increased Intracranial Pressure From Nontraumatic Causes.; Pediatrics; Vol 143(2). 2019 Feb. Shi ALevin AV Ophthalmologic findings in the Cornelia de Lange syndrome.; Ophthalmic genetics; Vol 40(1). 2019 Feb. Wangtiraumnuay NKopinsky SIyer PCapasso JWhitehead RSchneider ALevin AV Ophthalmic manifestations associated with RARB mutations.; Clinical dysmorphology; Vol 28(1). 2019 Jan. Levin AV Robert Reinecke obituary; J AAPOS; Vol 22(6). 2018 Jan 01. Thau ALloyd MFreedman SBeck AGrajewski ALevin AV New classification system for pediatric glaucoma: implications for clinical care and a research registry.; Current opinion in ophthalmology; Vol 29(5). 2018 Sep. Saffren BDCapasso JEZanolli MLevin AV Ocular manifestations of Emanuel syndrome.; American journal of medical genetics. Part A; Vol 176(9). 2018 Sep. Yuan BNeira JPehlivan DSantiago-Sim TSong XRosenfeld JPosey JEPatel VJin WAdam MPBaple ELDean JFong CTHickey SEHudgins LLeon EMadan-Khetarpal SRawlins LRustad CFStray-Pedersen ATveten KWenger ODiaz JJenkins LMartin LMcGuire MPietryga MRamsdell LSlattery LAbid FBertuch AAGrange DImmken LSchaaf CPVan Esch HBi WCheung SWBreman AMSmith JLShaw CCrosby AHEng CYang YLupski JRXiao RLiu P Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.; Genetics in medicine : official journal of the American College of Medical Genetics. 2018 Aug 30. Pefkianaki MSchneider ACapasso JEWasserman BNBardakjian TLevin AV Ocular manifestations of PACS1 mutation.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 22(4). 2018 Aug. Hark LAShiuey EYu MTran EMayro ELZhan TPond MTran JSiam LLevin AV Efficacy and outcomes of a summer-based pediatric vision screening program.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 22(4). 2018 Aug. Christian CWLevin AV The Eye Examination in the Evaluation of Child Abuse.; Pediatrics; Vol 142(2). 2018 Aug. Mayro ELHark LAShiuey EPond MSiam LHill-Bennett TTran JKhanna NSilverstein MDonaghy JZhan TMurchison APLevin AV Prevalence of uncorrected refractive errors among school-age children in the School District of Philadelphia.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 22(3). 2018 Jun. Wangtiraumnuay NAlnabi WATsukikawa MThau ACapasso JSharony RInglehearn CFLevin AV Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations.; Ophthalmic genetics; Vol 39(3). 2018 Jun. Petersen-Jones SMOccelli LMWinkler PALee WSparrow JRTsukikawa MBoye SLChiodo VCapasso JEBecirovic ESchön CSeeliger MWLevin AVMichalakis SHauswirth WWTsang SH Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.; The Journal of clinical investigation; Vol 128(1). 2018 Jan 02. Wangtiraumnuay NCapasso JTsukikawa MLevin ABiswas-Fiss E Novel ABCA4 mutation leads to loss of a conserved C-terminal motif: implications for predicting pathogenicity based on genetic testing.; European journal of ophthalmology; Vol 28(1). 2018 Jan. Kline ADMoss JFSelicorni ABisgaard AMDeardorff MAGillett PMIshman SLKerr LMLevin AVMulder PARamos FJWierzba JAjmone PFAxtell DBlagowidow NCereda ACostantino ACormier-Daire VFitzPatrick DGrados MGroves LGuthrie WHuisman SKaiser FJKoekkoek GLevis MMariani MMcCleery JPMenke LAMetrena AO'Connor JOliver CPie JPiening SPotter CJQuaglio ALRedeker ERichman DRigamonti CShi ATümer ZVan Balkom IDCHennekam RC Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.; Nature reviews. Genetics; Vol 19(10). 2018 Jan. Shouldice MAl-Khattabi FThau AMcIntyre SNg WKYLevin AV Traumatic macular retinoschisis in infants and children.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 22(6). 2018 Jan. Louis CCalamaro EVinocur JM Hereditary arrhythmias and cardiomyopathies: decision-making about genetic testing.; Current opinion in cardiology; Vol 33(1), pp. 78-86. 2018 Jan. Lee BHReijnders MRFAbubakare OTuttle ELape BMinks KQStodgell CBennetto LKwon JFong CTGripp KWMarsh EDSmith WEHuq AMCoury SATan WHSolis OMehta RILeventer RJBaralle DHunt DPaciorkowski AR Expanding the neurodevelopmental phenotype of PURA syndrome.; American journal of medical genetics. Part A. 2017 Nov 17. Protas MEWeh EFootz TKasberger JBaraban SCLevin AVKatz LJRitch RWalter MASemina EVGould DB Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma.; Human molecular genetics; Vol 26(18). 2017 Sep 15. Dotan GKhetan VMarshall JDAffel EArmiger-George DNaggert JKCollin GBLevin AV Spectral-domain optical coherence tomography findings in Alström syndrome.; Ophthalmic genetics; Vol 38(5). 2017 Sep. Mikhail MSabri KLevin AV Effect of anesthesia on intraocular pressure measurement in children.; Survey of ophthalmology; Vol 62(5). 2017 Sep. Levin AV The SBU report: a different view.; Acta paediatrica (Oslo, Norway : 1992); Vol 106(7). 2017 Jul. Wuthisiri WLai YHCapasso JBlidner MSalz DKruger ELevin AV Autoimmune retinopathy associated with systemic lupus erythematosus: A diagnostic dilemma.; Taiwan journal of ophthalmology; Vol 7(3). 2017 Jul. Dotan GKarr DJLevin AV Pediatric ophthalmology and strabismus fellowship Match outcomes, 2000-2015.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 21(3). 2017 Jun. Armstrong BKRabinowitz MPLevin AVEagle RCSnitzer MCarrasco J Giant Ocular Horn Occurring in a 10-Year-Old Female.; Ophthalmic plastic and reconstructive surgery; Vol 33(3S Suppl 1). 2017 May. Paul Chan RVKhan AOLevin AVPaysse EADeRespinis PA Marfan Syndrome: Staging Nonsurgical vs Surgical Treatments in Children With Subluxated Lenses and Refractive Problems.; Journal of pediatric ophthalmology and strabismus; Vol 54(2). 2017 Mar 01. Redin CBrand HCollins RLKammin TMitchell EHodge JCHanscom CPillalamarri VSeabra CMAbbott MAAbdul-Rahman OAAberg EAdley RAlcaraz-Estrada SLAlkuraya FSAn YAnderson MAAntolik CAnyane-Yeboa KAtkin JFBartell TBernstein JABeyer EBlumenthal IBongers EMBrilstra EHBrown CWBrüggenwirth HTCallewaert BChiang CCorning KCox HCuppen ECurrall BBCushing TDavid DDeardorff MADheedene AD'Hooghe Mde Vries BBEarl DLFerguson HLFisher HFitzPatrick DRGerrol PGiachino DGlessner JTGliem TGrady MGraham BHGriffis CGripp KWGropman ALHanson-Kahn AHarris DJHayden MAHill RHochstenbach RHoffman JDHopkin RJHubshman MWInnes AMIrons MIrving MJacobsen JCJanssens SJewett TJohnson JPJongmans MCKahler SGKoolen DAKorzelius JKroisel PMLacassie YLawless WLemyre ELeppig KLevin AVLi HLi HLiao ECLim CLose EJLucente DMacera MJManavalan PMandrile GMarcelis CLMargolin LMason TMasser-Frye DMcClellan MWMendoza CJMenten BMiddelkamp SMikami LRMoe EMohammed SMononen TMortenson MEMoya GNieuwint AWOrdulu ZParkash SPauker SPPereira SPerrin DPhelan KAguilar REPoddighe PJPregno GRaskin SReis LRhead WRita DRenkens IRoelens FRuliera JRump PSchilit SLShaheen RSparkes RSpiegel EStevens BStone MRTagoe JThakuria JVvan Bon BWvan de Kamp Jvan Der Burgt Ivan Essen Tvan Ravenswaaij-Arts CMvan Roosmalen MJVergult SVolker-Touw CMWarburton DPWaterman MJWiley SWilson AYerena-de Vega MCZori RTLevy BBrunner HGde Leeuw NKloosterman WPThorland ECMorton CCGusella JFTalkowski ME The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.; Nature genetics; Vol 49(1). 2017 Jan. Weiss KTerhal PACohen LBruccoleri MIrving MMartinez AFRosenfeld JAMachol KYang YLiu PWalkiewicz MBeuten JGomez-Ospina NHaude KFong CTEnns GMBernstein JAFan JGotway GGhorbani Mvan Gassen KMonroe GRvan Haaften GBasel-Vanagaite LYang XJCampeau PMMuenke M De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.; American journal of human genetics; Vol 99(4). 2016 Oct 06. Ho DKLevin AVAnninger WVPiccoli DAEagle RC Anterior Chamber Pathology in Alagille Syndrome.; Ocular oncology and pathology; Vol 2(4). 2016 Oct. Levin AV Ethical considerations in gene therapy.; Ophthalmic genetics; Vol 37(3). 2016 Sep. Ma QGarber HRLu SHe HTallis EDing XSergeeva AWood MSDotti GSalvado BRuisaard KClise-Dwyer KJohn LSRezvani KAlatrash GShpall EJMolldrem JJ A novel TCR-like CAR with specificity for PR1/HLA-A2 effectively targets myeloid leukemia in vitro when expressed in human adult peripheral blood and cord blood T cells.; Cytotherapy; Vol 18(8), pp. 985-994. 2016 Jun 02. Jacob MStewart PMedina-Walpole AFong CT A culinary laboratory for nutrition education.; The clinical teacher; Vol 13(3). 2016 Jun. Hope WCLaRoche RLevin AV Teaching ethics to ophthalmology residents: the Halifax Symposium.; Canadian journal of ophthalmology. Journal canadien d'ophtalmologie; Vol 51(3). 2016 Jun. Serafino MTrivedi RHLevin AVWilson MENucci PLambert SRNischal KKPlager DABremond-Gignac DKekunnaya RNishina STehrani NNVentura MC Use of the Delphi process in paediatric cataract management.; The British journal of ophthalmology; Vol 100(5). 2016 May. Comi AMSahin MHammill AKaplan EHJuhász CNorth PBall KLLevin AVCohen BMorris JLo WRoach ES Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research.; Pediatric neurology; Vol 58. 2016 May. Khetan VZanolli MCapasso JRefice NZNeeley KLevin AV How genetics works? An illustrative case report.; Indian journal of ophthalmology; Vol 64(5). 2016 May. Levin AV Retinal hemorrhage: science versus speculation.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 20(2). 2016 Apr. Ho DKFlannigan KPLevin AV Technique for Tube Extender Implantation.; Journal of glaucoma; Vol 25(3). 2016 Mar. Shang LHenderson LBCho MTPetrey DSFong CTHaude KMShur NLundberg JHauser NCarmichael JInnis JSchuette JWu YWAsaikar SPearson MFolk LRetterer KMonaghan KGChung WK De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.; Neurogenetics; Vol 17(1). 2016 Jan. Wittlieb-Weber CAHaude KMFong CTVinocur JM A novel GJA1 mutation causing familial oculodentodigital dysplasia with dilated cardiomyopathy and arrhythmia.; HeartRhythm case reports; Vol 2(1). 2016 Jan. Pham HLingao MDGanesh ACapasso JEKeep RSadagopan KALevin AV Organophosphate retinopathy.; Oman journal of ophthalmology; Vol 9(1). 2016 Jan. Hark LAMayro ELTran JPond MSchneider RTorosian JSnitzer MDabbish NLevin AV Improving access to vision screening in urban Philadelphia elementary schools.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 20(5). 2016 Jan. Khetan VZanolli MLevin AV Acute Bilateral Leber Hereditary Optic Neuropathy.; Journal of pediatric ophthalmology and strabismus; Vol 52(4). 2015 Jul. Arcot Sadagopan KBattista RKeep RBCapasso JELevin AV Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son.; Ophthalmic genetics; Vol 36(2). 2015 Jun. Pizzi LTSnitzer MAmos TPrioli KMSteele DLevin AV Cost and effectiveness of an eye care adherence program for Philadelphia children with significant visual impairment.; Population health management; Vol 18(3). 2015 Jun. Zhang LLai YHCapasso JEHan SLevin AV Early onset ectopia lentis due to a FBN1 mutation with non-penetrance.; American journal of medical genetics. Part A; Vol 167(6). 2015 Jun. Hope WCCordovez JACapasso JEHammersmith KMEagle RCLall-Trail JLevin AV Peters anomaly in cri-du-chat syndrome.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 19(3). 2015 Jun. Dotan GTruong BSnitzer MMcCauley CMartinez-Helfman SSanta Maria KLevin AV Outcomes of an inner-city vision outreach program: give kids sight day.; JAMA ophthalmology; Vol 133(5). 2015 May. Sadagopan KALiu GTCapasso JEWuthisiri WKeep RBLevin AV Anirdia-like phenotype caused by 6p25 dosage aberrations.; American journal of medical genetics. Part A; Vol 167A(3). 2015 Mar. Alvi RAJustason LLiotta CMartinez-Helfman SDennis KCroker SPLeiby BELevin AV The Eagles Eye Mobile: assessing its ability to deliver eye care in a high-risk community.; Journal of pediatric ophthalmology and strabismus; Vol 52(2). 2015 Mar. Shields CLAtalay HTWuthisiri WLevin AVLally SEShields JA Sector iris hemangioma in association with diffuse choroidal hemangioma.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 19(1). 2015 Feb. Cordovez JATraboulsi EICapasso JESadagopan KAGanesh ARychwalski PJNeely KABrodie SELevin AV Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene.; Ophthalmic genetics; Vol 36(3). 2015. Weh EReis LMHapp HCLevin AVWheeler PGDavid KLCarney EAngle BHauser NSemina EV Whole exome sequence analysis of Peters anomaly.; Human genetics; Vol 133(12). 2014 Dec. Zanolli MTCapasso JKhetan VAristimuño BLevin AV Unusual retinal abnormalities in sisters with tetralogy of Fallot.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 18(6). 2014 Dec. Levin AV Retinal hemorrhages: what are we talking about?; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 18(6). 2014 Dec. Lalani SRZhang JSchaaf CPBrown CWMagoulas PTsai ACEl-Gharbawy AWierenga KJBartholomew DFong CTBarbaro-Dieber TKukolich MKBurrage LCAustin EKeller KPastore MFernandez FLotze TWilfong APurcarin GZhu WCraigen WJMcGuire MJain MCooney EAzamian MBainbridge MNMuzny DMBoerwinkle EPerson RENiu ZEng CMLupski JRGibbs RABeaudet ALYang YWang MCXia F Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.; American journal of human genetics; Vol 95(5). 2014 Nov 06. Héon ELevin AMacDonald IM In memoriam Maria Musarella.; Ophthalmic genetics; Vol 35(3). 2014 Sep. Zanolli MTKhetan VDotan GPizzi LLevin AV Should patients with ocular genetic disorders have genetic testing?; Current opinion in ophthalmology; Vol 25(5). 2014 Sep. Kwan AAbraham RSCurrier RBrower AAndruszewski KAbbott JKBaker MBallow MBartoshesky LEBonilla FABrokopp CBrooks ECaggana MCelestin JChurch JAComeau AMConnelly JACowan MJCunningham-Rundles CDasu TDave NDe La Morena MTDuffner UFong CTForbes LFreedenberg DGelfand EWHale JEHanson ICHay BNHu DInfante AJohnson DKapoor NKay DMKohn DBLee RLehman HLin ZLorey FAbdel-Mageed AManning AMcGhee SMoore TBNaides SJNotarangelo LDOrange JSPai SYPorteus MRodriguez RRomberg NRoutes JRuehle MRubenstein ASaavedra-Matiz CAScott GScott PMSecord ESeroogy CShearer WTSiegel SSilvers SKStiehm ERSugerman RWSullivan JLTanksley STierce MLVerbsky JVogel BWalker RWalkovich KWalter JEWasserman RLWatson MSWeinberg GAWeiner LBWood HYates ABPuck JMBonagura VR Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.; JAMA; Vol 312(7). 2014 Aug 20. Kline ADCalof ALSchaaf CAKrantz IDJyonouchi SYokomori KGauze MCarrico CSWoodman JGerton JLVega HLevin AVShirahige KChampion MGoodban MTO'Connor JTPipan MHorsfield JDeardorff MAIshman SLDorsett D Cornelia de Lange syndrome: further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts.; American journal of medical genetics. Part A; Vol 164A(6). 2014 Jun. Grange DKHillman REBurton BKYano SVockley JFong CTHunt JMahoney JJCohen-Pfeffer JL Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry.; Molecular genetics and metabolism; Vol 112(1). 2014 May. Lingao MDLiu GTGunton KLevin AV Anterior lentiplane associated with posterior lenticonus and microcornea.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 18(2). 2014 Apr. Levin AV Red reflex: Procedures and assessments video series.; Canadian family physician Medecin de famille canadien; Vol 60(3). 2014 Mar. Cordovez JACapasso JLingao MDSadagopan KASpaeth GLWasserman BNLevin AV Ocular manifestations of 22q11.2 microduplication.; Ophthalmology; Vol 121(1). 2014 Jan. DeBenedictis CNLiu GTNelson LBLeiby BEDai YLevin AV Physician use of white coats in pediatric ophthalmology.; Journal of pediatric ophthalmology and strabismus; Vol 51(1). 2014 Jan. Levin AVCordovez JALeiby BEPequignot ETandon A Retinal hemorrhage in abusive head trauma: finding a common language.; Transactions of the American Ophthalmological Society; Vol 112. 2014. Ganesh AMai DTLevin AV Pediatric glaucoma terminology.; American journal of medical genetics. Part A; Vol 161A(12). 2013 Dec. Levin AVWajda BNWilliams SAlvi RMcCauley CMartinez-Helfman S Reply: To PMID 23622446.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 17(6). 2013 Dec. Wuthisiri WLingao MDCapasso JELevin AV Lyonization in ophthalmology.; Current opinion in ophthalmology; Vol 24(5). 2013 Sep. Paul Chan RVForbes BJLevin AV Evaluation and management of nonaccidental head trauma.; Journal of pediatric ophthalmology and strabismus; Vol 50(5). 2013 Sep. Capra LLevin AVHoward AShouldice M Characteristics of femur fractures in ambulatory young children.; Emergency medicine journal : EMJ; Vol 30(9). 2013 Sep. Ganesh AKhalighi MHammersmith KLevin AV Spontaneously resolving macular cyst in an infant.; Oman journal of ophthalmology; Vol 6(3). 2013 Sep. Binenbaum GRogers DLForbes BJLevin AVClark SAChristian CWLiu GTAvery R Patterns of retinal hemorrhage associated with increased intracranial pressure in children.; Pediatrics; Vol 132(2). 2013 Aug. Aldahmesh MAKhan AOMohamed JYLevin AVWuthisiri WLynch SMcCreery KAlkuraya FS No evidence for locus heterogeneity in Knobloch syndrome.; Journal of medical genetics; Vol 50(8). 2013 Aug. Pham HEnzenauer RWElder JELevin AV Retinal hemorrhage after cardiopulmonary resuscitation with chest compressions.; The American journal of forensic medicine and pathology; Vol 34(2). 2013 Jun. Williams SWajda BNAlvi RMcCauley CMartinez-Helfman SLevin AV The challenges to ophthalmologic follow-up care in at-risk pediatric populations.; Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus; Vol 17(2). 2013 Apr. Petersen AKAhmad AShafiq MBrown-Kipphut BFong CTAnwar Iqbal M Deletion 1q43 encompassing only CHRM3 in a patient with autistic disorder.; European journal of medical genetics; Vol 56(2). 2013 Feb. Newman DLFisher LMOhmen JParody RFong CTFrisina STMapes FEddins DARobert Frisina DFrisina RDFriedman RA GRM7 variants associated with age-related hearing loss based on auditory perception.; Hearing research; Vol 294(1-2). 2012 Dec. Juhn ATNabi NULevin AV Ocular anomalies in an infant with Klinefelter Syndrome.; Ophthalmic genetics; Vol 33(4). 2012 Dec. Reis LMTyler RCVolkmann Kloss BASchilter KFLevin AVLowry RBZwijnenburg PJStroh EBroeckel UMurray JCSemina EV PITX2 and FOXC1 spectrum of mutations in ocular syndromes.; European journal of human genetics : EJHG; Vol 20(12). 2012 Dec. Sadagopan KACapasso JLevin AV Genetics for the ophthalmologist.; Oman journal of ophthalmology; Vol 5(3). 2012 Sep. Ganesh AKaliki SLevin AVShields CL Epiretinal membrane and retinal pigment epithelial lesions in a young child and detection of de novo APC mutation.; Archives of ophthalmology (Chicago, Ill. : 1960); Vol 130(8). 2012 Aug. Lee ESWasserman BNSaslow JGSchnur RELevin AV Vertically oval corneas in a child with holoprosencephaly.; Journal of pediatric ophthalmology and strabismus; Vol 49 Online. 2012 Jul 17. Kim HGKim HTLeach NTLan FUllmann RSilahtaroglu AKurth INowka ASeong ISShen YTalkowski MERuderfer DLee JHGlotzbach CHa KKjaergaard SLevin AVRomeike BFKleefstra TBartsch OElsea SHJabs EWMacDonald MEHarris DJQuade BJRopers HHShaffer LGKutsche KLayman LCTommerup NKalscheuer VMShi YMorton CCKim CHGusella JF Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.; American journal of human genetics; Vol 91(1). 2012 Jul 13.