M. Konstantino

发表

Markers of Successful Extubation in Extremely Preterm Infants, and Morbidity After Failed Extubation

Sarah E Lillie, Sharon L. Wright, B. Poindexter, 2017, The Journal of pediatrics.

Physiologically Based Pharmacokinetic Modeling of Meropenem in Preterm and Term Infants

B. Poindexter, M. Walsh, E. Eichenwald, 2021, Clinical Pharmacokinetics.

Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum

W. Ji, M. Konstantino, C. Kiraly-Borri, 2019, Cold Spring Harbor molecular case studies.

Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report

W. Ji, M. Konstantino, M. Khokha, 2019, BMC Nephrology.

Expansion of NEUROD2 phenotypes to include developmental delay without seizures

Emily K. Mis, S. Nelson, W. Ji, 2021, American journal of medical genetics. Part A.

A retrospective cohort analysis of the Yale pediatric genomics discovery program

Emily K. Mis, W. Ji, M. Konstantino, 2022, American journal of medical genetics. Part A.

Growth Rates of Infants Randomized to CPAP or Intubation After Extremely Preterm Birth.

Maria I. Hopkins, Sarah E Lillie, Walter S. Gilliam, 2021, The Journal of pediatrics.

Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.

W. Ji, M. Konstantino, S. Lakhani, 2019, European journal of medical genetics.

A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history

W. Ji, L. Bird, M. Konstantino, 2018, American journal of medical genetics. Part A.

Umbilical venous catheterization and the risk of portal vein thrombosis.

R. Ehrenkranz, P. Gettner, M. Konstantino, 1997, The Journal of pediatrics.

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

Emily K. Mis, E. Zackai, D. Baralle, 2019, bioRxiv.

Incidence of and Neurodevelopmental Outcomes After Late-Onset Meningitis Among Children Born Extremely Preterm

R. J. Williams, Eugenia K. Pallotto, Margaret M. Crawford, 2022, JAMA network open.

Timing of Postnatal Steroids for Bronchopulmonary Dysplasia: Association with Pulmonary and Neurodevelopmental Outcomes

Eugenia K. Pallotto, Margaret M. Crawford, Sharon L. Wright, 2020, Journal of Perinatology.

Randomized trial of enteral protein and energy supplementation in infants less than or equal to 1250 g at birth

R. Ehrenkranz, P. Gettner, M. Konstantino, 2010, Journal of Perinatology.

Blood myo-inositol concentrations in preterm and term infants

B. Poindexter, L. Wrage, W. Poole, 2020, Journal of Perinatology.

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy

Emily K. Mis, W. Ji, M. Konstantino, 2018, Journal of Medical Genetics.

A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death.

R. Fulbright, Y. Yen, W. Ji, 2019, European journal of medical genetics.

Outcome of Preterm Infants with Transient Cystic Periventricular Leukomalacia on Serial Cranial Imaging Up to Term Equivalent Age

Margaret M. Crawford, Sharon L. Wright, Allison H. Payne, 2018, The Journal of pediatrics.

A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type 1 Crigler-Najjar Syndrome

M. Finel, W. Ji, A. Iuga, 2018, Drug Metabolism and Disposition.

Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2)

W. Ji, M. Konstantino, S. Lakhani, 2021, Journal of Clinical Immunology.

DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes

Emily K. Mis, S. Ellard, J. Baptista, 2020, Journal of Medical Genetics.

Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2)

W. Ji, M. Konstantino, M. Hershfield, 2021, Journal of Clinical Immunology.

CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability

L. Medne, M. Konstantino, M. Khokha, 2023, Developmental biology.

Behavior Profiles at 2 Years for Children Born Extremely Preterm with Bronchopulmonary Dysplasia.

Eugenia K. Pallotto, Margaret M. Crawford, Sharon L. Wright, 2020, The Journal of pediatrics.

Growth Outcomes of Preterm Infants Exposed to Different Oxygen Saturation Target Ranges from Birth.

Maria I. Hopkins, Sharon L. Wright, B. Poindexter, 2016, The Journal of pediatrics.

Outcome of Preterm Infants with Transient Cystic Periventricular Leukomalacia on Serial Cranial Imaging Up to Term Equivalent Age.

Eugenia K. Pallotto, Margaret M. Crawford, Sharon L. Wright, 2018, The Journal of pediatrics.

SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability

M. Konstantino, M. Pryzhkova, Philip W. Jordan, 2023, International journal of molecular sciences.