Skip to Main Content
Yale School of Medicine
YSM Home

INFORMATION FOR

DownloadHi-Res Photo

Monica Konstantino, RN

Staff Affiliate - YNHH; Pediatric Genomics Discovery Program (PGDP)

Contact Information

Monica Konstantino, RN

Coauthors

Selected Publications

  • SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental DisabilityO'Brien M, Pryzhkova M, Lake E, Mandino F, Shen X, Karnik R, Atkins A, Xu M, Ji W, Konstantino M, Brueckner M, Ment L, Khokha M, Jordan P. SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability. International Journal Of Molecular Sciences 2023, 25: 430. PMID: 38203602, PMCID: PMC10779392, DOI: 10.3390/ijms25010430.
  • CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stabilityDeniz 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.
  • A retrospective cohort analysis of the Yale pediatric genomics discovery programAl‐Ali S, Jeffries L, Faustino EVS, Ji W, Mis E, Konstantino M, Zerillo C, Jiang Y, Spencer‐Manzon M, Bale A, Zhang H, McGlynn J, McGrath JM, Tremblay T, Brodsky NN, Lucas CL, Pierce R, Deniz E, Khokha MK, Lakhani SA. A retrospective cohort analysis of the Yale pediatric genomics discovery program. American Journal Of Medical Genetics Part A 2022, 188: 2869-2878. PMID: 35899841, PMCID: PMC9474639, DOI: 10.1002/ajmg.a.62918.
  • Expansion of NEUROD2 phenotypes to include developmental delay without seizuresMis EK, Sega AG, Signer RH, Cartwright T, Ji W, Martinez‐Agosto J, Nelson SF, Palmer CGS, Lee H, Mitzelfelt T, Konstantino M, Network U, Jeffries L, Khokha MK, Marco E, Martin MG, Lakhani SA. Expansion of NEUROD2 phenotypes to include developmental delay without seizures. American Journal Of Medical Genetics Part A 2021, 185: 1076-1080. PMID: 33438828, PMCID: PMC8212414, DOI: 10.1002/ajmg.a.62064.
  • Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2)Brooks JP, Rice AJ, Ji W, Lanahan SM, Konstantino M, Dara J, Hershfield MS, Cruickshank A, Dokmeci E, Lakhani S, Lucas CL. Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2). Journal Of Clinical Immunology 2021, 41: 680-683. PMID: 33394316, DOI: 10.1007/s10875-020-00940-1.
  • The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequenceMis EK, Al‐Ali S, Ji W, Spencer‐Manzon M, Konstantino M, Khokha MK, Jeffries L, Lakhani SA. The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequence. American Journal Of Medical Genetics Part A 2020, 182: 2291-2296. PMID: 32812332, DOI: 10.1002/ajmg.a.61783.
  • DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypesMarquez J, Mann N, Arana K, Deniz E, Ji W, Konstantino M, Mis EK, Deshpande C, Jeffries L, McGlynn J, Hugo H, Widmeier E, Konrad M, Tasic V, Morotti R, Baptista J, Ellard S, Lakhani SA, Hildebrandt F, Khokha MK. DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes. Journal Of Medical Genetics 2020, 58: 453-464. PMID: 32631816, PMCID: PMC7785698, DOI: 10.1136/jmedgenet-2019-106805.
  • Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndromeAlharatani R, Ververi A, Beleza-Meireles A, Ji W, Mis E, Patterson QT, Griffin JN, Bhujel N, Chang CA, Dixit A, Konstantino M, Healy C, Hannan S, Neo N, Cash A, Li D, Bhoj E, Zackai EH, Cleaver R, Baralle D, McEntagart M, Newbury-Ecob R, Scott R, Hurst JA, Au PYB, Hosey MT, Khokha M, Marciano DK, Lakhani SA, Liu KJ. Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome. Human Molecular Genetics 2020, 29: 1900-1921. PMID: 32196547, PMCID: PMC7372553, DOI: 10.1093/hmg/ddaa050.
  • Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case reportSandokji I, Marquez J, Ji W, Zerillo CA, Konstantino M, Lakhani SA, Khokha MK, Warejko JK. Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report. BMC Nephrology 2019, 20: 271. PMID: 31315584, PMCID: PMC6637548, DOI: 10.1186/s12882-019-1458-z.
  • Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrumKiraly-Borri C, Jevon G, Ji W, Jeffries L, Ricciardi JL, Konstantino M, Ackerman KG, Lakhani SA. Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum. Molecular Case Studies 2019, 5: a003699. PMID: 30819764, PMCID: PMC6549552, DOI: 10.1101/mcs.a003699.
  • A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal deathPenque BA, Su L, Wang J, Ji W, Bale A, Luh F, Fulbright RK, Sarmast U, Sega AG, Konstantino M, Spencer-Manzon M, Pierce R, Yen Y, Lakhani SA. A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death. European Journal Of Medical Genetics 2018, 62: 103574. PMID: 30439532, DOI: 10.1016/j.ejmg.2018.11.008.
  • A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type I Crigler-Najjar SyndromeElfar W, Järvinen E, Ji W, Mosorin J, Sega AG, Iuga AC, Lobritto SJ, Konstantino M, Chan A, Finel M, Lakhani SA. A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type I Crigler-Najjar Syndrome. Drug Metabolism And Disposition 2018, 47: dmd.118.084368. PMID: 30385458, DOI: 10.1124/dmd.118.084368.
  • De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathySega AG, Mis EK, Lindstrom K, Mercimek-Andrews S, Ji W, Cho MT, Juusola J, Konstantino M, Jeffries L, Khokha MK, Lakhani SA. De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy. Journal Of Medical Genetics 2018, 56: 113. PMID: 30323019, DOI: 10.1136/jmedgenet-2018-105322.
  • Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseasesJeffries L, Olivieri JE, Ji W, Spencer-Manzon M, Bale A, Konstantino M, Lakhani SA. Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases. European Journal Of Medical Genetics 2018, 62: 103551. PMID: 30300710, DOI: 10.1016/j.ejmg.2018.10.003.
  • Outcome of Preterm Infants with Transient Cystic Periventricular Leukomalacia on Serial Cranial Imaging Up to Term Equivalent AgeSarkar S, Shankaran S, Barks J, T. B, Laptook R, Das A, Ambalavanan N, Van Meurs K, Bell E, Sanchez P, Hintz S, Wyckoff M, Stoll B, Carlo W, Jobe A, Caplan M, Polin R, Keszler M, Oh W, Vohr B, Hensman A, Alksninis B, Basso K, Burke R, Caskey M, Johnson K, Keszler M, Knoll A, Leach T, Little E, McGowan E, Vieira E, Watson V, Ventura S, Walsh M, Fanaroff A, Hibbs A, Wilson-Costello D, Newman N, Payne A, Siner B, Bhola M, Yalcinkaya G, Friedman H, Truog W, Pallotto E, Kilbride H, Gauldin C, Holmes A, Johnson K, Knutson A, Schibler K, Donovan E, Grisby C, Bridges K, Alexander B, Fischer E, Mincey H, Hessling J, Gratton T, Jackson L, Kirker K, Muthig G, Steichen J, Tepe S, Mersmann M, Yolton K, Goldberg R, Cotten C, Goldstein R, Ashley P, Malcolm W, Auten K, Fisher K, Grimes S, Gustafson K, Lohmeyer M, Finkle J, Laughon M, Bose C, Bernhardt J, Bose G, Warner D, Wereszczak J, Carlton D, Adams-Chapman I, Hale E, Loggins Y, Blackwelder A, Bottcher D, Mackie C, Higgins R, Archer S, Sokol G, Poindexter B, Lemons J, Dusick A, Papile L, Lytle C, Hines A, Minnich H, Herron D, Smiley L, Gunn S, Wilson L, Kennedy K, Tyson J, McDavid G, Akpa E, Arldt-McAlister J, Alaniz N, Burson K, Bradt P, Dieterich S, Dempsey A, Duncan A, Evans P, Franco C, Garcia C, Green C, Harris B, Jiminez M, John J, Jones P, Lillie L, Lis A, Major-Kincade T, Martin K, Martin S, Morris B, Orekoya P, Reddoch S, Rodgers S, Siddiki S, Simmons M, Sperry D, Tate P, Whitely L, Wright S, Nelin L, Jadcherla S, Luzader P, Fortney C, Besner G, Parikh N, Wallace D, Gantz M, Poole W, Crawford M, Gabrio J, Hastings B, Newman J, Auman J, Huitema C, Zaterka-Baxter K, Stevenson D, Ball M, Adams M, Davis A, Palmquist A, Proud M, Bentley B, Bruno E, DeAnda M, DeBattista A, Earhart B, Huffman L, Kohn J, Krueger C, Palmquist A, Weiss H, Frantz I, Fiascone J, MacKinnon B, Furey A, Nylen E, McGowan E, Peralta-Carcelen M, Collins M, Cosby S, Biasini F, Johnston K, Nelson K, Patterson C, Phillips V, Whitley S, Devaskar U, Garg M, Purdy I, Chanlaw T, Geller R, Finer N, Kaegi D, Rasmussen M, Wozniak P, Arnell K, Demetrio C, Fuller M, Henderson C, Rich W, Vaucher Y, Colaizy T, Acarregui M, Brumbaugh J, Ellsbury D, Widness J, Johnson K, Campbell D, Eastman D, Krutzfield N, Duara S, Bauer C, Everett-Thomas R, Fajardo-Hiriart S, Rigaud A, Calejo M, Eguaras S, Berkowits M, Garcia A, Pierre H, Stoerger A, Watterberg K, Papile L, Lowe J, Dupont T, Fuller J, Ohls R, Lacy C, Duncan A, Montman R, Schmidt B, Kirpalani H, DeMauro S, Chaudhary A, Abbasi S, Mancini T, Cucinotta D, Bernbaum J, Gerdes M, Hurt H, Cook N, D'Angio C, Phelps D, Guillet R, Lakshminrusimha S, Johnson J, Burnell E, Reubens L, Horihan C, Jensen R, Kushner E, Merzbach J, Myers G, Rowan M, Wadkins H, Scorsone A, Bowman M, Hunn J, Guilford S, Maffett D, Farooq O, Prinzing D, Reynolds A, Sacilowski M, Williams A, Wynn K, Yost K, Zorn W, Zwetsch L, Brion L, Broyles R, Heyne R, Ipson M, Salhab W, Rosenfeld C, Vasil D, Chen L, Guzman A, Hensley G, Hickman J, Leps M, Madison S, Miller N, Morgan J, Pavageau L, Adams S, Dooley C, Heyne E, Lee L, Madden L, Boatman C, Faix R, Yoder B, Osborne K, Spencer C, Weaver-Lewis K, Baker S, Bird K, Burnett J, Steffen M, Jensen J, Winter S, Zanetti K, O'Shea T, Dillard R, Washburn L, Jackson B, Peters N, Chiu K, Allred D, Goldstein D, Halfond R, Peterson C, Waldrep E, Welch C, Morris M, Hounshell G, Pappas A, Bara R, Goldston L, Muran G, Natarajan G, Christensen M, Wiggins S, White D, Ehrenkranz R, Jacobs H, Butler C, Cervone P, Gettner P, Greisman S, Konstantino M, Poulsen J, Romano E, Taft J, Williams J. Outcome of Preterm Infants with Transient Cystic Periventricular Leukomalacia on Serial Cranial Imaging Up to Term Equivalent Age. The Journal Of Pediatrics 2018, 195: 59-65.e3. PMID: 29398046, PMCID: PMC6407628, DOI: 10.1016/j.jpeds.2017.12.010.
  • A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural historyJeffries L, Shima H, Ji W, Panisello‐Manterola D, McGrath J, Bird LM, Konstantino M, Narumi S, Lakhani S. A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history. American Journal Of Medical Genetics Part A 2017, 176: 415-420. PMID: 29266745, DOI: 10.1002/ajmg.a.38557.
  • Markers of Successful Extubation in Extremely Preterm Infants, and Morbidity After Failed ExtubationChawla S, Natarajan G, Shankaran S, Carper B, Brion L, Keszler M, Carlo W, Ambalavanan N, Gantz M, Das A, Finer N, Goldberg R, Cotten C, Higgins R, Network E, Jobe A, Caplan M, Polin R, Laptook R, Oh W, Hensman A, Gingras D, Barnett S, Lillie S, Francis K, Andrews D, Angela K, Walsh M, Fanaroff A, Newman N, Siner B, Schibler K, Donovan E, Narendran V, Bridges K, Alexander B, Grisby C, Mersmann M, Mincey H, Hessling J, Goldberg R, Auten K, Fisher K, Foy K, Siaw G, Stoll B, Buchter S, Piazza A, Carlton D, Hale E, Archer S, Poindexter B, Lemons J, Hamer F, Herron D, Miller L, Wilson L, Berberich M, Blaisdell C, Gail D, Kiley J, Poole W, Cunningham M, Hastings B, Irene A, Auman J, Huitema C, Pickett J, Wallace D, Zaterka-Baxter K, Van Meurs K, Stevenson D, Ball M, Proud M, Frantz I, Fiascone J, Furey A, MacKinnon B, Nylen E, Collins M, Cosby S, Phillips V, Rasmussen M, Wozniak P, Rich W, Arnell K, Bridge R, Demetrio C, Bell E, Widness J, Klein J, Johnson K, Duara S, Everett-Thomas R, Watterberg K, Ohls R, Rohr J, Lacy C, Phelps D, Laroia N, Reubens L, Burnell E, Sánchez P, Rosenfeld C, Salhab W, Allen J, Guzman A, Hensley G, Lepps M, Martin M, Miller N, Solis A, Vasil D, Wilder K, Kennedy K, Tyson J, Morris B, Harris B, Lis A, Martin S, McDavid G, Tate P, Wright S, Yoder B, Faix R, Burnett J, Jensen J, Osborne K, Spencer C, Weaver-Lewis K, O'Shea T, Peters N, Sood B, Bara R, Billian E, Johnson M, Ehrenkranz R, Jacobs H, Bhandari V, Cervone P, Gettner P, Konstantino M, Poulsen J, Taft J. Markers of Successful Extubation in Extremely Preterm Infants, and Morbidity After Failed Extubation. The Journal Of Pediatrics 2017, 189: 113-119.e2. PMID: 28600154, PMCID: PMC5657557, DOI: 10.1016/j.jpeds.2017.04.050.
  • Patterns of Oxygenation, Mortality, and Growth Status in the Surfactant Positive Pressure and Oxygen Trial CohortDi Fiore J, Martin R, Li H, Morris N, Carlo W, Finer N, Walsh M, Health A, Jobe A, Caplan M, Polin R, Laptook R, Oh W, Hensman A, Gingras D, Barnett S, Lillie S, Francis K, Andrews D, Angela K, Fanaroff A, Newman N, Siner B, Zadell A, Schibler K, Donovan E, Bridges K, Alexander B, Grisby C, Mersmann M, Mincey H, Hessling J, Goldberg R, Cotten C, Wallace D, Freedman S, Auten K, Fisher K, Foy K, Stoll B, Piazza A, Buchter S, Carlton D, Hutchinson A, Hale E, Higgins R, Archer S, Poindexter B, Lemons J, Hamer F, Herron D, Miller L, Wilson L, Berberich M, Blaisdell C, Gail D, Kiley J, Gantz M, Das A, Crawford M, Hastings B, Irene A, Auman J, Huitema C, Pickett J, Wallace D, Zaterka-Baxter K, Van Meurs K, Stevenson D, Ball M, Proud M, Frantz I, Fiascone J, Furey A, MacKinnon B, Nylen E, Ambalavanan N, Collins M, Cosby S, Phillips V, Rasmussen M, Wozniak P, Rich W, Arnell K, Bridge R, Demetrio C, Bell E, Widness J, Klein J, Johnson K, Duara S, Everett-Thomas R, Watterberg K, Ohls R, Rohr J, Lacy C, Phelps D, Laroia N, Markowitz G, Reubens L, Burnell E, Sánchez P, Rosenfeld C, Salhab W, Allen J, Grau L, Guzman A, Hensley G, Lepps M, Martin M, Miller N, Solis A, Vasil D, Wilder K, Kennedy K, Tyson J, Morris B, Harris B, Lis A, Martin S, McDavid G, Tate P, Wright S, Yoder B, Faix R, Burnett J, Jensen J, Osborne K, Spencer C, Weaver-Lewis K, O'Shea T, Peters N, Shankaran S, Sood B, Bara R, Billian E, Johnson M, Ehrenkranz R, Narendran V, Bhandari V, Jacobs H, Cervone P, Gettner P, Konstantino M, Poulsen J, Taft J. Patterns of Oxygenation, Mortality, and Growth Status in the Surfactant Positive Pressure and Oxygen Trial Cohort. The Journal Of Pediatrics 2017, 186: 49-56.e1. PMID: 28279433, PMCID: PMC5484739, DOI: 10.1016/j.jpeds.2017.01.057.
  • Association between Use of Prophylactic Indomethacin and the Risk for Bronchopulmonary Dysplasia in Extremely Preterm InfantsJensen E, Dysart K, Gantz M, Carper B, Higgins R, Keszler M, Laughon M, Poindexter B, Stoll B, Walsh M, Schmidt B, Network E, Caplan M, Polin R, Laptook R, Keszler M, Hensman A, Basso K, Vieira E, Little E, Fanaroff A, Hibbs A, Newman N, Truog W, Kilbride H, Pallotto E, Gauldin C, Holmes A, Johnson K, Knutson A, Schibler K, Donovan E, Alexander B, Grisby C, Hessling J, Fischer E, Jackson L, Kirker K, Muthig G, Goldberg R, Cotten C, Fisher K, Auten K, Foy K, Grimes S, Finkle J, Laughon M, Bose C, Bernhardt J, Bose G, Carlton D, Hale E, Archer S, Poindexter B, Sokol G, Wilson L, Herron D, Sánchez P, Nelin L, Jadcherla S, Luzader P, Fortney C, Besner G, Parikh N, Das A, Wallace D, Auman J, Crawford M, Huitema C, Zaterka-Baxter K, Van Meurs K, Adams M, Stevenson D, Ball M, Palmquist A, Proud M, Frantz I, Fiascone J, MacKinnon B, Nylen E, Carlo W, Ambalavanan N, Collins M, Cosby S, Devaskar U, Garg M, Chanlaw T, Geller R, Bell E, Ellsbury D, Widness J, Johnson K, Campbell D, Watterberg K, Ohls R, Lacy C, Montman R, Brown S, Wussow T, Hartenberger C, Schmidt B, Kirpalani H, DeMauro S, Chaudhary A, Abbasi S, Mancini T, Cucinotta D, D'Angio C, Guillet R, Lakshminrusimha S, Reynolds A, Reubens L, Jensen R, Maffett D, Wadkins H, Sacilowski M, Williams A, Guilford S, Horihan C, Kennedy K, Tyson J, Burson K, Harris B, McDavid G, Tate P, Wright S, Sánchez P, Brion L, Chen L, Guzman A, Leps M, Miller N, Morgan J, Vasil D, Torres L, Faix R, Yoder B, Osborne K, Bird K, Burnett J, Jensen J, Spencer C, Weaver-Lewis K, Zanetti K, Shankaran S, Barks J, Bara R, Johnson M, Christensen M, Wiggins S, Ehrenkranz R, Jacobs H, Cervone P, Konstantino M, Poulsen J, Taft J. Association between Use of Prophylactic Indomethacin and the Risk for Bronchopulmonary Dysplasia in Extremely Preterm Infants. The Journal Of Pediatrics 2017, 186: 34-40.e2. PMID: 28258737, PMCID: PMC5484725, DOI: 10.1016/j.jpeds.2017.02.003.

Clinical Trials

ConditionsStudy Title
Children's Health; Genetics - PediatricPediatric Genomics Discovery Program (PGDP)
Edit Profile