Search | Virtual Health Library

1.

The Role of Genome Sequencing in Neonatal Intensive Care Units.

Kingsmore, Stephen F; Cole, F Sessions.

Annu Rev Genomics Hum Genet ; 23: 427-448, 2022 08 31.

Article in English | MEDLINE | ID: mdl-35676073

2.

A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl^-/H⁺-Exchanger, Causes Early-Onset Neurodegeneration.

Polovitskaya, Maya M; Barbini, Carlo; Martinelli, Diego; Harms, Frederike L; Cole, F Sessions; Calligari, Paolo; Bocchinfuso, Gianfranco; Stella, Lorenzo; Ciolfi, Andrea; Niceta, Marcello; Rizza, Teresa; Shinawi, Marwan; Sisco, Kathleen; Johannsen, Jessika; Denecke, Jonas; Carrozzo, Rosalba; Wegner, Daniel J; Kutsche, Kerstin; Tartaglia, Marco; Jentsch, Thomas J.

Am J Hum Genet ; 107(6): 1062-1077, 2020 12 03.

Article in English | MEDLINE | ID: mdl-33217309

3.

Improving child health through Big Data and data science.

Vesoulis, Zachary A; Husain, Ameena N; Cole, F Sessions.

Pediatr Res ; 93(2): 342-349, 2023 01.

Article in English | MEDLINE | ID: mdl-35974162

4.

Behavioral Health Diagnoses in Youth with Gender Dysphoria Compared with Controls: A PEDSnet Study.

Nunes-Moreno, Marissa; Buchanan, Cindy; Cole, F Sessions; Davis, Shanlee; Dempsey, Amanda; Dowshen, Nadia; Furniss, Anna; Kazak, Anne E; Kerlek, Anna J; Margolis, Peter; Pyle, Laura; Razzaghi, Hanieh; Reirden, Daniel H; Schwartz, Beth; Sequeira, Gina M; Nokoff, Natalie J.

J Pediatr ; 241: 147-153.e1, 2022 02.

Article in English | MEDLINE | ID: mdl-34571022

5.

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

Wambach, Jennifer A; Wegner, Daniel J; Patni, Nivedita; Kircher, Martin; Willing, Marcia C; Baldridge, Dustin; Xing, Chao; Agarwal, Anil K; Vergano, Samantha A Schrier; Patel, Chirag; Grange, Dorothy K; Kenney, Amy; Najaf, Tasnim; Nickerson, Deborah A; Bamshad, Michael J; Cole, F Sessions; Garg, Abhimanyu.

Am J Hum Genet ; 103(6): 968-975, 2018 12 06.

Article in English | MEDLINE | ID: mdl-30414627

6.

A Longitudinal Comparison of Alternatives to Body Mass Index Z-Scores for Children with Very High Body Mass Indexes.

Freedman, David S; Davies, Amy J Goodwin; Kompaniyets, Lyudmyla; Lange, Samantha J; Goodman, Alyson B; Phan, Thao-Ly Tam; Cole, F Sessions; Dempsey, Amanda; Pajor, Nathan; Eneli, Ihuoma; Christakis, Dimitri A; Forrest, Christopher B.

J Pediatr ; 235: 156-162, 2021 08.

Article in English | MEDLINE | ID: mdl-33676932

7.

Functional Genomics of ABCA3 Variants.

Wambach, Jennifer A; Yang, Ping; Wegner, Daniel J; Heins, Hillary B; Luke, Cliff; Li, Fuhai; White, Frances V; Cole, F Sessions.

Am J Respir Cell Mol Biol ; 63(4): 436-443, 2020 10.

Article in English | MEDLINE | ID: mdl-32692933

8.

Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.

Baldridge, Dustin; Spillmann, Rebecca C; Wegner, Daniel J; Wambach, Jennifer A; White, Frances V; Sisco, Kathleen; Toler, Tomi L; Dickson, Patricia I; Cole, F Sessions; Shashi, Vandana; Grange, Dorothy K.

Am J Med Genet A ; 182(5): 1053-1065, 2020 05.

Article in English | MEDLINE | ID: mdl-32083401

9.

Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure.

Wambach, Jennifer A; Wegner, Daniel J; Kitzmiller, Joseph; White, Frances V; Heins, Hillary B; Yang, Ping; Paul, Alexander J; Granadillo, Jorge L; Eghtesady, Pirooz; Kuklinski, Cadence; Turner, Tiffany; Fairman, Korre; Stone, Kristyne; Wilson, Theodore; Breman, Amy; Smith, Janice; Schroeder, Molly C; Neidich, Julie A; Whitsett, Jeffrey A; Cole, F Sessions.

Am J Respir Cell Mol Biol ; 70(1): 78-80, 2024 Jan.

Article in English | MEDLINE | ID: mdl-38156804

10.

Fetal Tracheal Occlusion for Congenital Diaphragmatic Hernia.

Cole, F Sessions.

N Engl J Med ; 385(2): 177-178, 2021 07 08.

Article in English | MEDLINE | ID: mdl-34106554

11.

Optimizing the AKI definition during first postnatal week using Assessment of Worldwide Acute Kidney Injury Epidemiology in Neonates (AWAKEN) cohort.

Askenazi, David; Abitbol, Carolyn; Boohaker, Louis; Griffin, Russell; Raina, Rupesh; Dower, Joshua; Davis, T Keefe; Ray, Patricio E; Perazzo, Sofia; DeFreitas, Marissa; Milner, Lawrence; Ambalavanan, Namasivayam; Cole, F Sessions; Rademacher, Erin; Zappitelli, Michael; Mhanna, Maroun.

Pediatr Res ; 85(3): 329-338, 2019 02.

Article in English | MEDLINE | ID: mdl-30643188

12.

Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation.

Towe, Christopher T; White, Frances V; Grady, R Mark; Sweet, Stuart C; Eghtesady, Pirooz; Wegner, Daniel J; Sen, Partha; Szafranski, Przemyslaw; Stankiewicz, Pawel; Hamvas, Aaron; Cole, F Sessions; Wambach, Jennifer A.

J Pediatr ; 194: 158-164.e1, 2018 03.

Article in English | MEDLINE | ID: mdl-29198536

13.

Mutations in the thyroid transcription factor gene NKX2-1 result in decreased expression of SFTPB and SFTPC.

Attarian, Stephanie J; Leibel, Sandra L; Yang, Ping; Alfano, Danielle N; Hackett, Brian P; Cole, F Sessions; Hamvas, Aaron.

Pediatr Res ; 84(3): 419-425, 2018 09.

Article in English | MEDLINE | ID: mdl-29538355

14.

Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures.

Wambach, Jennifer A; Wegner, Daniel J; Yang, Ping; Shinawi, Marwan; Baldridge, Dustin; Betleja, Ewelina; Shimony, Joshua S; Spencer, David; Hackett, Brian P; Andrews, Marisa V; Ferkol, Thomas; Dutcher, Susan K; Mahjoub, Moe R; Cole, F Sessions.

Pediatr Res ; 84(3): 435-441, 2018 09.

Article in English | MEDLINE | ID: mdl-29967526

15.

Neonatal Outcomes Differ after Spontaneous and Indicated Preterm Birth.

Stout, Molly J; Demaree, Devyn; Merfeld, Emily; Tuuli, Methodius G; Wambach, Jennifer A; Cole, F Sessions; Cahill, Alison G.

Am J Perinatol ; 35(5): 494-502, 2018 Apr.

Article in English | MEDLINE | ID: mdl-29183099

16.

Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).

Wambach, Jennifer A; Stettner, Georg M; Haack, Tobias B; Writzl, Karin; Skofljanec, Andreja; Maver, Ales; Munell, Francina; Ossowski, Stephan; Bosio, Mattia; Wegner, Daniel J; Shinawi, Marwan; Baldridge, Dustin; Alhaddad, Bader; Strom, Tim M; Grange, Dorothy K; Wilichowski, Ekkehard; Troxell, Robin; Collins, James; Warner, Barbara B; Schmidt, Robert E; Pestronk, Alan; Cole, F Sessions; Steinfeld, Robert.

Hum Mutat ; 38(11): 1477-1484, 2017 11.

Article in English | MEDLINE | ID: mdl-28726266

17.

First Steps toward Personalized Therapies for ABCA3 Deficiency.

Wambach, Jennifer A; Nogee, Lawrence M; Cole, F Sessions.

Am J Respir Cell Mol Biol ; 66(4): 349-350, 2022 04.

Article in English | MEDLINE | ID: mdl-35077664

18.

Changes in medical errors after implementation of a handoff program.

Starmer, Amy J; Spector, Nancy D; Srivastava, Rajendu; West, Daniel C; Rosenbluth, Glenn; Allen, April D; Noble, Elizabeth L; Tse, Lisa L; Dalal, Anuj K; Keohane, Carol A; Lipsitz, Stuart R; Rothschild, Jeffrey M; Wien, Matthew F; Yoon, Catherine S; Zigmont, Katherine R; Wilson, Karen M; O'Toole, Jennifer K; Solan, Lauren G; Aylor, Megan; Bismilla, Zia; Coffey, Maitreya; Mahant, Sanjay; Blankenburg, Rebecca L; Destino, Lauren A; Everhart, Jennifer L; Patel, Shilpa J; Bale, James F; Spackman, Jaime B; Stevenson, Adam T; Calaman, Sharon; Cole, F Sessions; Balmer, Dorene F; Hepps, Jennifer H; Lopreiato, Joseph O; Yu, Clifton E; Sectish, Theodore C; Landrigan, Christopher P.

N Engl J Med ; 371(19): 1803-12, 2014 Nov 06.

Article in English | MEDLINE | ID: mdl-25372088

19.

Outcomes of Lung Transplantation for Infants and Children with Genetic Disorders of Surfactant Metabolism.

Eldridge, Whitney B; Zhang, Qunyuan; Faro, Albert; Sweet, Stuart C; Eghtesady, Pirooz; Hamvas, Aaron; Cole, F Sessions; Wambach, Jennifer A.

J Pediatr ; 184: 157-164.e2, 2017 05.

Article in English | MEDLINE | ID: mdl-28215425

20.

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

Ng, Bobby G; Shiryaev, Sergey A; Rymen, Daisy; Eklund, Erik A; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E; Alehan, Fusun; Midro, Alina T; Bamshad, Michael J; Barone, Rita; Berry, Gerard T; Brumbaugh, Jane E; Buckingham, Kati J; Clarkson, Katie; Cole, F Sessions; O'Connor, Shawn; Cooper, Gregory M; Van Coster, Rudy; Demmer, Laurie A; Diogo, Luisa; Fay, Alexander J; Ficicioglu, Can; Fiumara, Agata; Gahl, William A; Ganetzky, Rebecca; Goel, Himanshu; Harshman, Lyndsay A; He, Miao; Jaeken, Jaak; James, Philip M; Katz, Daniel; Keldermans, Liesbeth; Kibaek, Maria; Kornberg, Andrew J; Lachlan, Katherine; Lam, Christina; Yaplito-Lee, Joy; Nickerson, Deborah A; Peters, Heidi L; Race, Valerie; Régal, Luc; Rush, Jeffrey S; Rutledge, S Lane; Shendure, Jay; Souche, Erika; Sparks, Susan E; Trapane, Pamela; Sanchez-Valle, Amarilis; Vilain, Eric.

Hum Mutat ; 37(7): 653-60, 2016 07.

Article in English | MEDLINE | ID: mdl-26931382

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