Jennifer Wambach

2021

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

Undiagnosed Diseases Network, Apr 2021, In: Genetics in Medicine. 23, 4, p. 740-750 11 p.

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

Open Access

2 Scopus citations

A novel de novo intronic variant in ITPR1 causes Gillespie syndrome

Undiagnosed Diseases Network, Aug 2021, In: American Journal of Medical Genetics, Part A. 185, 8, p. 2315-2324 10 p.

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

Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)

Rosano, K. K., Wegner, D. J., Shinawi, M., Baldridge, D., Bucelli, R. C., Dahiya, S., White, F. V., Willing, M. C., McAllister, W., Taft, R. J., Bluske, K., Buchanan, A., Cole, F. S. & Wambach, J. A., Jul 2021, In: American Journal of Medical Genetics, Part A. 185, 7, p. 2190-2197 8 p.

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

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

Undiagnosed Diseases Network, Feb 2021, In: Genetics in Medicine. 23, 2, p. 259-271 13 p.

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

1 Scopus citations

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Undiagnosed Diseases Network, Jun 2021, In: Genetics in Medicine. 23, 6, p. 1075-1085 11 p.

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

Open Access

Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey

Undiagnosed Diseases Network, Jul 2021, In: Molecular Genetics and Genomic Medicine. 9, 7, e1665.

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

Open Access

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

Undiagnosed Diseases Network, Feb 2021, In: American Journal of Medical Genetics, Part A. 185, 2, p. 544-548 5 p.

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

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Undiagnosed Diseases Network, Oct 2021, In: Genetics in Medicine. 23, 10, p. 1889-1900 12 p.

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

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

Undiagnosed Diseases Network, Jul 2021, In: Human genetics. 140, 7, p. 1109-1120 12 p.

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

Open Access

1 Scopus citations

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Undiagnosed Diseases Network, Oct 2021, In: Genetics in Medicine. 23, 10, p. 1922-1932 11 p.

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

PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy

Undiagnosed Diseases Network & The DDD study, Aug 2021, In: Clinical Genetics. 100, 2, p. 227-233 7 p.

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

Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum

Undiagnosed Diseases Network, Jun 2021, In: Molecular Genetics and Genomic Medicine. 9, 6, e1692.

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

Open Access

Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network

Undiagnosed Diseases Network, Dec 2021, In: Orphanet Journal of Rare Diseases. 16, 1, 210.

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

Open Access

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

Undiagnosed Diseases Network, Aug 2021, In: American Journal of Medical Genetics, Part A. 185, 8, p. 2417-2433 17 p.

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

Open Access

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Undiagnosed Diseases Network, Aug 2021, In: Genetics in Medicine. 23, 8, p. 1465-1473 9 p.

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

Open Access

1 Scopus citations

Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD)

Luna, S. E., Wegner, D. J., Gale, S., Yang, P., Hollander, A., St. Dennis-Feezle, L., Nabhan, Z. M., Ory, D. S., Cole, F. S. & Wambach, J. A., Sep 2021, In: Journal of Steroid Biochemistry and Molecular Biology. 212, 105908.

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

“Doctors can read about it, they can know about it, but they've never lived with it”: How parents use social media throughout the diagnostic odyssey

Undiagnosed Diseases Network, 2021, (Accepted/In press) In: Journal of Genetic Counseling.

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

2020

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

3 Scopus citations

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

12 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

1 Scopus citations

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

1 Scopus citations

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

3 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

5 Scopus citations

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

6 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

16 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

2 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

1 Scopus citations

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

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

13 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

13 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

23 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

2 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

7 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

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

5 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

24 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

6 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

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

27 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

6 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

5 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

8 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

160 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

31 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

14 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

7 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

24 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

14 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

7 Scopus citations

Jennifer Wambach

Research output

Search results