Jennifer Wambach

Research Output

Research Output per year

1999 2020

• 808 Citations
• 51 Article
• 3 Comment/debate
• 2 Review article
• 1 Chapter
• 1 More
  • 1 Editorial

Research Output per year

Research Output per year

Search results

• 2020

  An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

  Undiagnosed Diseases Network, 2020, (Accepted/In press) In: Genetics in Medicine.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Ether
  • Nervous System Diseases
  • Plasmalogens
  • Lipids
  • Spastic Paraparesis

• Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

  Undiagnosed Diseases Network, Aug 1 2020, In: Brain. 143, 8, p. 2437-2453 17 p.

  Research output: Contribution to journal › Article › peer-review

  • Fibroblasts
  • Autonomic Nervous System
  • Tumor Necrosis Factor-alpha
  • Epidermal Growth Factor
  • Exocrine Glands

• Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

  Undiagnosed Diseases Network, 2020, (Accepted/In press) In: Genetics in Medicine.

  Research output: Contribution to journal › Article › peer-review

  • Medicine
  • Exome
  • Genetic Association Studies
  • Genome
  • Evaluation Studies

• De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

  Undiagnosed Diseases Network, Apr 2 2020, In: American journal of human genetics. 106, 4, p. 570-583 14 p.

  Research output: Contribution to journal › Article › peer-review

  • Eukaryotic Initiation Factor-2
  • Leukoencephalopathies
  • Eukaryotic Initiation Factor-2B
  • Eukaryotic Initiation Factors
  • Nervous System
  1 Scopus citations

• Digenic variants in the FGF21 signaling pathway associated with severe insulin resistance and pseudoacromegaly

  Stone, S. I., Wegner, D. J., Wambach, J. A., Cole, F. S., Urano, F. & Ornitz, D. M., Dec 1 2020, In: Journal of the Endocrine Society. 4, 12, p. 1-14 14 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Pseudoacromegaly with Severe Insulin Resistance
  • fibroblast growth factor 21
  • Insulin
  • Insulin Resistance
  • Whole Exome Sequencing

• Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses

  Undiagnosed Diseases Network, 2020, (Accepted/In press) In: American Journal of Medical Genetics, Part A.

  Research output: Contribution to journal › Article › peer-review

  • CHARGE Syndrome
  • DNA-Binding Proteins
  • Whole Genome Sequencing
  • Haploinsufficiency
  • Methylation

• DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

  Undiagnosed Diseases Network, Dec 2020, In: Molecular Genetics and Genomic Medicine. 8, 12, e1544.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Intellectual Disability
  • Language Development Disorders
  • Microcephaly
  • National Institutes of Health (U.S.)
  • Multiple Abnormalities

• Functional characterization of four ATP-binding cassette transporter A3 gene (ABCA3) variants

  Hu, J. Y., Yang, P., Wegner, D. J., Heins, H. B., Luke, C. J., Li, F., White, F. V., Silverman, G. A., Sessions Cole, F. & Wambach, J. A., Jul 1 2020, In: Human mutation. 41, 7, p. 1298-1307 10 p.

  Research output: Contribution to journal › Article › peer-review

  • ATP-Binding Cassette Transporters
  • Genes
  • Adenosine Triphosphatases
  • Phospholipids
  • Newborn Respiratory Distress Syndrome
  1 Scopus citations

• Functional genomics of ABCA3 variants

  Wambach, J. A., Yang, P., Wegner, D. J., Heins, H. B., Luke, C., Li, F., White, F. V. & Cole, F. S., Oct 2020, In: American Journal of Respiratory Cell and Molecular Biology. 63, 4, p. 436-443 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Genomics
  • ATP-Binding Cassette Transporters
  • A549 Cells
  • Genes
  • Complementary DNA

• Neuroendocrine Cell Hyperplasia of Infancy Clinical Score and Comorbidities

  Liptzin, D. R., Pickett, K., Brinton, J. T., Agarwal, A., Fishman, M. P., Casey, A., Towe, C. T., Taylor, J. B., Kurland, G., Hagood, J. S., Wambach, J., Srivastava, R., Al-Saleh, H., Dell, S. D., Young, L. R. & Deterding, R. R., Jun 2020, In: Annals of the American Thoracic Society. 17, 6, p. 724-728 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Neuroendocrine Cells
  • Hyperplasia
  • Comorbidity
  • Gastroesophageal Reflux
  • Confidence Intervals
  2 Scopus citations

• Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

  Undiagnosed Diseases Network, Jan 15 2020, In: Biological Psychiatry. 87, 2, p. 100-112 13 p.

  Research output: Contribution to journal › Article › peer-review

  • Neurodevelopmental Disorders
  • Transforming Growth Factors
  • Virulence
  • Joint Instability
  • X Chromosome Inactivation
  8 Scopus citations

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

  Baldridge, D., Spillmann, R. C., Wegner, D. J., Wambach, J. A., White, F. V., Sisco, K., Toler, T. L., Dickson, P. I., Cole, F. S., Shashi, V. & Grange, D. K., May 1 2020, In: American Journal of Medical Genetics, Part A. 182, 5, p. 1053-1065 13 p.

  Research output: Contribution to journal › Article › peer-review

  • Kabuki syndrome
  • Absent breasts and nipples
  • Choanal Atresia
  • Eyebrows
  • Hypoparathyroidism
  1 Scopus citations

• Postmenstrual age at discharge in premature infants with and without ventilatory pattern instability

  Hoover, J., Wambach, J., Vachharajani, A., Warner, B., Carroll, J. L. & Kemp, J. S., Jan 1 2020, In: Journal of Perinatology. 40, 1, p. 157-162 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Premature Infants
  • Respiration
  • Cannula
  • Air
  • Hypoxia
• 2019

  CemOrange2 fusions facilitate multifluorophore subcellular imaging in C. Elegans

  Thomas, B. J., Wight, I. E., Chou, W. Y. Y., Moreno, M., Dawson, Z., Homayouni, A., Huang, H., Kim, H., Jia, H., Buland, J. R., Wambach, J. A., Cole, F. S., Pak, S. C., Silverman, G. A. & Luke, C. J., Mar 2019, In: PloS one. 14, 3, e0214257.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • fluorescent proteins
  • Caenorhabditis elegans
  • image analysis
  • Fusion reactions
  • Imaging techniques
  3 Scopus citations

• De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

  Undiagnosed Diseases Network, Oct 3 2019, In: American journal of human genetics. 105, 4, p. 854-868 15 p.

  Research output: Contribution to journal › Article › peer-review

  • Neurodevelopmental Disorders
  • Cadherins
  • Genitalia
  • Axons
  • Eye
  3 Scopus citations

• De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

  Undiagnosed Diseases Network, Aug 1 2019, In: American journal of human genetics. 105, 2, p. 413-424 12 p.

  Research output: Contribution to journal › Article › peer-review

  • Cerebellar Hypoplasia
  • Coloboma
  • Intellectual Disability
  • WD40 Repeats
  • Diptera
  4 Scopus citations

• Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

  Undiagnosed Diseases Network, Jun 6 2019, In: American journal of human genetics. 104, 6, p. 1127-1138 12 p.

  Research output: Contribution to journal › Article › peer-review

  • Albinism
  • Hypopigmentation
  • Vacuoles
  • Fibroblasts
  • Osteopetrosis
  11 Scopus citations

• Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

  Undiagnosed Diseases Network (UDN) & Members of the Undiagnosed Diseases Network, Nov 1 2019, In: Clinical Imaging. 58, p. 108-113 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Muscular Dystrophies
  • Abdominal Oblique Muscles
  • Magnetic Resonance Imaging
  • Atrophy
  • Lower Extremity
  1 Scopus citations

• Novel parent-of-origin-specific differentially methylated loci on chromosome 16

  Schulze, K. V., Szafranski, P., Lesmana, H., Hopkin, R. J., Hamvas, A., Wambach, J. A., Shinawi, M., Zapata, G., Carvalho, C. M. B., Liu, Q., Karolak, J. A., Lupski, J. R., Hanchard, N. A. & Stankiewicz, P., Apr 8 2019, In: Clinical Epigenetics. 11, 1, 60.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Persistent Fetal Circulation Syndrome
  • Chromosomes, Human, Pair 16
  • Methylation
  • hydrogen sulfite
  • Uniparental disomy Chromosome 16
  2 Scopus citations

• Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency

  Sandler-Wilson, C., Wambach, J. A., Marshall, B. A., Wegner, D. J., McAlister, W., Cole, F. S. & Shinawi, M., Jul 2019, In: Bone. 124, p. 14-21 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Ehlers-Danlos Syndrome
  • Growth Hormone
  • Siblings
  • N-Acetyllactosamine Synthase
  • Reunion
  3 Scopus citations

• VarSight: Prioritizing clinically reported variants with binary classification algorithms

  Holt, J. M., Wilk, B., Birch, C. L., Brown, D. M., Gajapathy, M., Moss, A. C., Sosonkina, N., Wilk, M. A., Anderson, J. A., Harris, J. M., Kelly, J. M., Shaterferdosian, F., Uno-Antonison, A. E., Weborg, A., Acosta, M. T., Adam, M., Adams, D. R., Agrawal, P. B., Alejandro, M. E., Allard, P. & 259 others, Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Azamian, M. S., Bacino, C. A., Bademci, G., Baker, E., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Batzli, G. F., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Bejerano, G., Bellen, H. J., Bennet, J., Berg-Rood, B., Bernier, R., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonnenmann, C., Bonner, D., Botto, L., Briere, L. C., Brokamp, E., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Carey, J., Carrasquillo, O., Chang, T. C. P., Chanprasert, S., Chao, H. T., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Cole, F. S., Colley, H. A., Cooper, C. M., Cope, H., Craigen, W. J., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davids, M., Dayal, J. G., Dell'Angelica, E. C., Dhar, S. U., Dipple, K., Doherty, D., Dorrani, N., Douine, E. D., Draper, D. D., Duncan, L., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Esteves, C., Estwick, T., Fernandez, L., Ferreira, C., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Fresard, L., Gahl, W. A., Glass, I., Godfrey, R. A., Golden-Grant, K., Goldman, A. M., Goldstein, D. B., Grajewski, A., Groden, C. A., Gropman, A. L., Hahn, S., Hamid, R., Hanchard, N. A., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Huang, Y., Isasi, R., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Jiang, Y. H., Johnston, J. M., Karaviti, L., Kelley, E. G., Kiley, D., Kohane, I. S., Kohler, J. N., Krakow, D., Krasnewich, D. M., Korrick, S., Koziura, M., Krier, J. B., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., Lau, C. C., Leblanc, K., Lee, B. H., Lee, H., Levitt, R., Lewis, R. A., Lincoln, S. A., Liu, P., Liu, X. Z., Longo, N., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Majcherska, M. M., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Maravilla, K., Markello, T. C., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCormack, C. E., McCray, A. T., Mefford, H., Merritt, J. L., Might, M., Mirzaa, G., Morava-Kozicz, E., Moretti, P. M., Morimoto, M., Mulvihill, J. J., Murdock, D. R., Nath, A., Nelson, S. F., Newman, J. H., Nicholas, S. K., Nickerson, D., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Pallais, J. C., Palmer, C. G. S., Papp, J. C., Parker, N. H., Phillips, J. A., Posey, J. E., Postlethwait, J. H., Potocki, L., Pusey, B. N., Quinlan, A., Raskind, W., Raja, A. N., Renteria, G., Reuter, C. M., Rives, L., Robertson, A. K., Rodan, L. H., Rosenfeld, J. A., Rowley, R. K., Ruzhnikov, M., Sacco, R., Sampson, J. B., Samson, S. L., Saporta, M., Scott, C. R., Schaechter, J., Schedl, T., Schoch, K., Scott, D. A., Shakachite, L., Sharma, P., Shashi, V., Shin, J., Signer, R., Sillari, C. H., Silverman, E. K., Sinsheimer, J. S., Sisco, K., Smith, K. S., Solnica-Krezel, L., Spillmann, R. C., Stoler, J. M., Stong, N., Sullivan, J. A., Sun, A., Sutton, S., Sweetser, D. A., Sybert, V., Tabor, H. K., Tamburro, C. P., Tan, Q. K. G., Tekin, M., Telischi, F., Thorson, W., Tifft, C. J., Toro, C., Tran, A. A., Urv, T. K., Velinder, M., Viskochil, D., Vogel, T. P., Wahl, C. E., Wallace, S., Walley, N. M., Walsh, C. A., Walker, M., Wambach, J., Wan, J., Wang, L. K., Wangler, M. F., Ward, P. A., Wegner, D., Wener, M., Westerfield, M., Wheeler, M. T., Wise, A. L., Wolfe, L. A., Woods, J. D., Yamamoto, S., Yang, J., Yoon, A. J., Yu, G., Zastrow, D. B., Zhao, C., Zuchner, S. & Worthey, E. A., Oct 15 2019, In: BMC bioinformatics. 20, 1, 496.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Classification Algorithm
  • Binary Classification
  • Prioritization
  • Classifier
  • Phenotype
  3 Scopus citations
• 2018

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

  Wambach, J. A., Wegner, D. J., Patni, N., Kircher, M., Willing, M. C., Baldridge, D., Xing, C., Agarwal, A. K., Vergano, S. A. S., Patel, C., Grange, D. K., Kenney, A., Najaf, T., Nickerson, D. A., Bamshad, M. J., Cole, F. S. & Garg, A., Dec 6 2018, In: American journal of human genetics. 103, 6, p. 968-975 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Neonatal progeroid syndrome
  • Loss of Heterozygosity
  • Nose
  • Tooth Abnormalities
  • RNA Polymerase III
  14 Scopus citations

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

  Wambach, J. A., Wegner, D. J., Yang, P., Shinawi, M., Baldridge, D., Betleja, E., Shimony, J. S., Spencer, D., Hackett, B. P., Andrews, M. V., Ferkol, T., Dutcher, S. K., Mahjoub, M. R. & Cole, F. S., Sep 1 2018, In: Pediatric research. 84, 3, p. 435-441 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Microcephaly with Simplified Gyral Pattern
  • Pontocerebellar Hypoplasia
  • Seizures
  • Microcephaly
  • Cilia
  3 Scopus citations

• Gene variants of the phosphatidylcholine synthesis pathway do not contribute to RDS in the Chinese population

  Chen, Y. J., Meyer, J., Wambach, J. A., DePass, K., Wegner, D. J., Fan, X., Zhang, Q. Y., Hillary, H., Cole, F. S. & Hamvas, A., Feb 1 2018, In: World Journal of Pediatrics. 14, 1, p. 52-56 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Phosphatidylcholines
  • Genes
  • Population
  • Mutation Rate
  • Diacylglycerol Cholinephosphotransferase

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

  Towe, C. T., White, F. V., Grady, R. M., Sweet, S. C., Eghtesady, P., Wegner, D. J., Sen, P., Szafranski, P., Stankiewicz, P., Hamvas, A., Cole, F. S. & Wambach, J. A., Mar 2018, In: Journal of Pediatrics. 194, p. 158-164.e1

  Research output: Contribution to journal › Article › peer-review

  • Persistent Fetal Circulation Syndrome
  • Lung Transplantation
  • Pulmonary Hypertension
  • Hypoxia
  • Histology
  14 Scopus citations

• LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV

  Szafranski, P., Kośmider, E., Liu, Q., Karolak, J. A., Currie, L., Parkash, S., Kahler, S. G., Roeder, E., Littlejohn, R. O., DeNapoli, T. S., Shardonofsky, F. R., Henderson, C., Powers, G., Poisson, V., Bérubé, D., Oligny, L., Michaud, J. L., Janssens, S., De Coen, K., Van Dorpe, J. & 10 others, Dheedene, A., Harting, M. T., Weaver, M. D., Khan, A. M., Tatevian, N., Wambach, J., Gibbs, K. A., Popek, E., Gambin, A. & Stankiewicz, P., Dec 2018, In: Human mutation. 39, 12, p. 1916-1925 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Persistent Fetal Circulation Syndrome
  • Retroelements
  • Genomic Instability
  • Human Genome
  • Genomic Structural Variation
  4 Scopus citations

• Neonatal Outcomes Differ after Spontaneous and Indicated Preterm Birth

  Stout, M. J., Demaree, D., Merfeld, E., Tuuli, M. G., Wambach, J. A., Cole, F. S. & Cahill, A. G., Apr 1 2018, In: American journal of perinatology. 35, 5, p. 494-502 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Premature Birth
  • Morbidity
  • Confidence Intervals
  • Counseling
  • Pregnancy
  3 Scopus citations

• Prevention and treatment of respiratory distress syndrome in preterm neonates

  McPherson, C. & Wambach, J. A., May 2018, In: Neonatal Network. 37, 3, p. 169-177 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Surface-Active Agents
  • Lung Compliance
  • Adrenal Cortex Hormones
  • Incidence
  • Newborn Respiratory Distress Syndrome
  5 Scopus citations
• 2017

  Differentiation of Human Pluripotent Stem Cells into Functional Lung Alveolar Epithelial Cells

  Jacob, A., Morley, M., Hawkins, F., McCauley, K. B., Jean, J. C., Heins, H., Na, C. L., Weaver, T. E., Vedaie, M., Hurley, K., Hinds, A., Russo, S. J., Kook, S., Zacharias, W., Ochs, M., Traber, K., Quinton, L. J., Crane, A., Davis, B. R., White, F. V. & 7 others, Wambach, J., Whitsett, J. A., Cole, F. S., Morrisey, E. E., Guttentag, S. H., Beers, M. F. & Kotton, D. N., Oct 5 2017, In: Cell Stem Cell. 21, 4, p. 472-488.e10

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Pluripotent Stem Cells
  • Alveolar Epithelial Cells
  • Lung
  • Surface-Active Agents
  • Congenital Deficiency of Pulmonary Surfactant Protein B
  110 Scopus citations

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

  Eldridge, W. B., Zhang, Q., Faro, A., Sweet, S. C., Eghtesady, P., Hamvas, A., Cole, F. S. & Wambach, J. A., May 2017, In: Journal of Pediatrics. 184, p. 157-164.e2

  Research output: Contribution to journal › Article › peer-review

  • Lung Transplantation
  • Surface-Active Agents
  • Inborn Genetic Diseases
  • Transplantation
  • Child
  24 Scopus citations

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

  Wambach, J. A., Stettner, G. M., Haack, T. B., Writzl, K., Škofljanec, A., Maver, A., Munell, F., Ossowski, S., Bosio, M., Wegner, D. J., Shinawi, M., Baldridge, D., Alhaddad, B., Strom, T. M., Grange, D. K., Wilichowski, E., Troxell, R., Collins, J., Warner, B. B., Schmidt, R. E. & 3 others, Pestronk, A., Cole, F. S. & Steinfeld, R., Nov 2017, In: Human mutation. 38, 11, p. 1477-1484 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Contracture
  • Mutation
  • Ranvier's Nodes
  • Child
  • Genes
  11 Scopus citations
• 2016

  Accelerating scientific advancement for Pediatric rare lung disease research: Report from a National Institutes of health-NHLBI workshop, September 3 and 4, 2015

  Young, L. R., Trapnell, B. C., Mandl, K. D., Swarr, D. T., Wambach, J. A. & Blaisdell, C. J., Dec 2016, In: Annals of the American Thoracic Society. 13, 12, p. S385-S393

  Research output: Contribution to journal › Article › peer-review

  • National Heart, Lung, and Blood Institute (U.S.)
  • National Institutes of Health (U.S.)
  • Rare Diseases
  • Lung Diseases
  • Pediatrics
  5 Scopus citations

• ATS core curriculum 2016: Part III. Pediatric pulmonary medicine

  Boyer, D., Thomson, C. C., Cohen, R., Rao, D., Dell, S., Rayment, J., Wang, R., Dy, F. J., Wambach, J., Tam-Williams, J., Simon, D., Price, E., Oermann, C. M., Singh, A., Rettig, J. S., Duncan, E. D., Baker, C. D., Liptzin, D. R. & Moore, P. E., Jun 2016, In: Annals of the American Thoracic Society. 13, 6, p. 955-966 12 p.

  Research output: Contribution to journal › Article › peer-review
  1 Scopus citations

• Functional characterization of ATP-binding cassette transporter A3 Mutations from Infants with respiratory distress syndrome

  Wambach, J. A., Yang, P., Wegner, D. J., Heins, H. B., Kaliberova, L. N., Kaliberov, S. A., Curiel, D. T., White, F. V., Hamvas, A., Hackett, B. P. & Sessions Cole, F., Nov 2016, In: American Journal of Respiratory Cell and Molecular Biology. 55, 5, p. 716-721 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Newborn Respiratory Distress Syndrome
  • ATP-Binding Cassette Transporters
  • Genes
  • Mutation
  • Virulence
  15 Scopus citations

• Genetic factors contribute to risk for neonatal respiratory distress syndrome among moderately preterm, late preterm, and term infants

  Shen, C. L., Zhang, Q., Meyer Hudson, J., Cole, F. S. & Wambach, J. A., May 1 2016, In: Journal of Pediatrics. 172, p. 69-74.e2

  Research output: Contribution to journal › Article › peer-review

  • Newborn Respiratory Distress Syndrome
  • Premature Infants
  • Twins
  • Dizygotic Twins
  • Monozygotic Twins
  7 Scopus citations

• Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort

  Chen, Y. J., Wambach, J. A., DePass, K., Wegner, D. J., Chen, S. K., Zhang, Q. Y., Heins, H., Cole, F. S. & Hamvas, A., May 1 2016, In: World Journal of Pediatrics. 12, 2, p. 190-195 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Surfactant Dysfunction
  • Adenosine Triphosphate
  • Mutation
  • Surface-Active Agents
  • Gene Frequency
  6 Scopus citations
• 2015

  De novo 9q gain in an infant with tetralogy of Fallot with absent pulmonary valve: Patient report and review of congenital heart disease in 9q duplication syndrome

  Amarillo, I. E., O'Connor, S., Lee, C. K., Willing, M. & Wambach, J. A., Dec 1 2015, In: American Journal of Medical Genetics, Part A. 167, 12, p. 2966-2974 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Kleefstra Syndrome
  • Pulmonary Valve
  • Tetralogy of Fallot
  • Congenital Heart Defects
  • Heart Diseases
  12 Scopus citations

• Respiratory failure in a term infant with cis and trans mutations in ABCA3

  Jackson, T., Wegner, D. J., White, F. V., Hamvas, A., Cole, F. S. & Wambach, J. A., Mar 1 2015, In: Journal of Perinatology. 35, 3, p. 231-232 2 p.

  Research output: Contribution to journal › Article › peer-review

  • ATP-Binding Cassette Transporters
  • Respiratory Insufficiency
  • Alleles
  • Mutation
  • Genes
  5 Scopus citations
• 2014

  Genotype-phenotype correlations for infants and children with ABCA3 deficiency

  Wambach, J. A., Casey, A. M., Fishman, M. P., Wegner, D. J., Wert, S. E., Sessions Cole, F., Hamvas, A. & Nogee, L. M., Jun 15 2014, In: American journal of respiratory and critical care medicine. 189, 12, p. 1538-1543 6 p.

  Research output: Contribution to journal › Article › peer-review

  • ATP-Binding Cassette Transporters
  • Genetic Association Studies
  • Mutation
  • Child
  • Respiratory Insufficiency
  75 Scopus citations

• Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome

  Wambach, J. A., Wegner, D. J., Heins, H. B., Druley, T. E., Mitra, R. D., Hamvas, A. & Cole, F. S., Jun 2014, In: Journal of Pediatrics. 164, 6, p. 1316-1321.e3

  Research output: Contribution to journal › Article › peer-review

  • Newborn Respiratory Distress Syndrome
  • Adenosine Triphosphate
  • Premature Infants
  • Silent Mutation
  • Computer Simulation
  5 Scopus citations

• Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins

  Szafranski, P., Dharmadhikari, A. V., Wambach, J. A., Towe, C. T., White, F. V., Grady, R. M., Eghtesady, P., Cole, F. S., Deutsch, G., Sen, P. & Stankiewicz, P., Aug 2014, In: American Journal of Medical Genetics, Part A. 164, 8, p. 2013-2019 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Persistent Fetal Circulation Syndrome
  • Long Noncoding RNA
  • Lung
  • Chromosomes, Human, Pair 16
  • Genes
  38 Scopus citations
• 2013

  Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

  Sen, P., Yang, Y., Navarro, C., Silva, I., Szafranski, P., Kolodziejska, K. E., Dharmadhikari, A. V., Mostafa, H., Kozakewich, H., Kearney, D., Cahill, J. B., Whitt, M., Bilic, M., Margraf, L., Charles, A., Goldblatt, J., Gibson, K., Lantz, P. E., Garvin, A. J., Petty, J. & 62 others, Kiblawi, Z., Zuppan, C., Mcconkie-Rosell, A., Mcdonald, M. T., Peterson-Carmichael, S. L., Gaede, J. T., Shivanna, B., Schady, D., Friedlich, P. S., Hays, S. R., Palafoll, I. V., Siebers-Renelt, U., Bohring, A., Finn, L. S., Siebert, J. R., Galambos, C., Nguyen, L., Riley, M., Chassaing, N., Vigouroux, A., Rocha, G., Fernandes, S., Brumbaugh, J., Roberts, K., Ho-ming, L., Lo, I. F. M., Lam, S., Gerychova, R., Jezova, M., Valaskova, I., Fellmann, F., Afshar, K., Giannoni, E., Muhlethaler, V., Liang, J., Beckmann, J. S., Lioy, J., Deshmukh, H., Srinivasan, L., Swarr, D. T., Sloman, M., Shaw-Smith, C., van Loon, R. L., Hagman, C., Sznajer, Y., Barrea, C., Galant, C., Detaille, T., Wambach, J. A., Cole, F. S., Hamvas, A., Prince, L. S., Diderich, K. E. M., Brooks, A. S., Verdijk, R. M., Ravindranathan, H., Sugo, E., Mowat, D., Baker, M. L., Langston, C., Welty, S. & Stankiewicz, P., Jun 2013, In: Human mutation. 34, 6, p. 801-811 11 p.

  Research output: Contribution to journal › Article › peer-review

  • Alveolar capillary dysplasia
  • Pulmonary Veins
  • Persistent Fetal Circulation Syndrome
  • Mutation
  • DNA
  69 Scopus citations
• 2012

  An intronic ABCA3 mutation that is responsible for respiratory disease

  Agrawal, A., Hamvas, A., Cole, F. S., Wambach, J. A., Wegner, D., Coghill, C., Harrison, K. & Nogee, L. M., Jun 2012, In: Pediatric research. 71, 6, p. 633-637 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Mutation
  • Introns
  • Respiratory Insufficiency
  • Lung Diseases
  • Complementary DNA
  33 Scopus citations

• Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome

  Wambach, J. A., Wegner, D. J., DePass, K., Heins, H., Druley, T. E., Mitra, R. D., An, P., Zhang, Q., Nogee, L. M., Cole, F. S. & Hamvas, A., Dec 2012, In: Pediatrics. 130, 6, p. e1575-e1582

  Research output: Contribution to journal › Article › peer-review

  • Newborn Respiratory Distress Syndrome
  • Mutation
  • Pyridinolcarbamate
  • Population
  • Pulmonary Surfactants
  55 Scopus citations
• 2010

  Successful sulfonylurea treatment of an insulin-naïve neonate with diabetes mellitus due to a KCNJ11 mutation

  Wambach, J. A., Marshall, B. A., Koster, J. C., White, N. H. & Nichols, C. G., Jun 2010, In: Pediatric Diabetes. 11, 4, p. 286-288 3 p.

  Research output: Contribution to journal › Article › peer-review

  • Glyburide
  • Diabetes Mellitus
  • Newborn Infant
  • Insulin
  • Adenosine Triphosphate
  32 Scopus citations

• Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcription

  Wambach, J. A., Yang, P., Wegner, D. J., An, P., Hackett, B. P., Cole, F. S. & Hamvas, A., Sep 2010, In: Pediatric research. 68, 3, p. 216-220 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Newborn Respiratory Distress Syndrome
  • Protein C
  • Surface-Active Agents
  • Single Nucleotide Polymorphism
  • Computer Simulation
  24 Scopus citations
• 2009

  Women's lifelong exposure to neighborhood poverty and low birth weight: A population-based study

  Collins, J. W., Wambach, J., David, R. J. & Rankin, K. M., Jan 1 2009, In: Maternal and Child Health Journal. 13, 3, p. 326-333 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Poverty
  • Low Birth Weight Infant
  • Income
  • African Americans
  • Population
  56 Scopus citations
• 2008

  Population and disease-based prevalence of the common mutations associated with surfactant deficiency

  Garmany, T. H., Wambach, J. A., Heins, H. B., Watkins-Torry, J. M., Wegner, D. J., Bennet, K., An, P., Land, G., Saugstad, O. D., Henderson, H., Nogee, L. M., Cole, F. S. & Hamvas, A., Jun 2008, In: Pediatric research. 63, 6, p. 645-649 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Surface-Active Agents
  • Newborn Respiratory Distress Syndrome
  • Adenosine Triphosphate
  • Haplotypes
  • Mutation
  64 Scopus citations

• Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene

  McBee, A. D., Wegner, D. J., Carlson, C. S., Wambach, J. A., Yang, P., Heins, H. B., Saugstad, O. D., Trusgnich, M. A., Watkins-Torry, J., Nogee, L. M., Henderson, H., Cole, F. S. & Hamvas, A., May 2008, In: Pediatric Pulmonology. 43, 5, p. 443-450 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Protein C
  • Surface-Active Agents
  • Genetic Recombination
  • Haplotypes
  • Mutation
  11 Scopus citations
• 2001

  Gastrointestinal polyps in children: Advances in molecular genetics, diagnosis, and management

  Corredor, J., Wambach, J. & Barnard, J., 2001, In: Journal of Pediatrics. 138, 5, p. 621-628 8 p.

  Research output: Contribution to journal › Article › peer-review
  47 Scopus citations