Publications

Showing 12 of 12 Publications

2021

Expansion of NEUROD2 phenotypes to include developmental delay without seizures
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.
Peer-Reviewed Original Research
MeSH Keywords and Concepts

2020

2018

A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death
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.
Peer-Reviewed Original Research
MeSH Keywords and Concepts
A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type I Crigler-Najjar Syndrome
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.
Peer-Reviewed Original Research
MeSH Keywords and Concepts
De 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 Research
MeSH Keywords and Concepts
Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases
Jeffries 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.
Peer-Reviewed Original Research
MeSH Keywords and Concepts
Outcome of Preterm Infants with Transient Cystic Periventricular Leukomalacia on Serial Cranial Imaging Up to Term Equivalent Age
Sarkar 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.
Peer-Reviewed Original Research
MeSH Keywords and Concepts

2017

A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history
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.
Peer-Reviewed Original Research
MeSH Keywords and Concepts
Markers of Successful Extubation in Extremely Preterm Infants, and Morbidity After Failed Extubation
Chawla 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.
Peer-Reviewed Original Research
MeSH Keywords and Concepts
Patterns of Oxygenation, Mortality, and Growth Status in the Surfactant Positive Pressure and Oxygen Trial Cohort
Di 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.
Peer-Reviewed Original Research
MeSH Keywords and Concepts
Association between Use of Prophylactic Indomethacin and the Risk for Bronchopulmonary Dysplasia in Extremely Preterm Infants
Jensen 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.
Peer-Reviewed Original Research
MeSH Keywords and Concepts

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