Jennifer Wambach

Undiagnosed Diseases Network, Paul, M. S., Michener, S. L., Pan, H., Chan, H., Pfliger, J. M., Rosenfeld, J. A., Lerma, V. C., Tran, A., Longley, M. A., Lewis, R. A., Weisz-Hubshman, M., Bekheirnia, M. R., Bekheirnia, N., Massingham, L., Zech, M., Wagner, M., Engels, H., Cremer, K. & Mangold, E. & 181 others, Peters, S., Trautmann, J., Mester, J. L., Guillen Sacoto, M. J., Person, R., McDonnell, P. P., Cohen, S. R., Lusk, L., Cohen, A. S. A., Le Pichon, J. B., Pastinen, T., Zhou, D., Engleman, K., Racine, C., Faivre, L., Moutton, S., Denommé-Pichon, A. S., Koh, H. Y., Poduri, A., Bolton, J., Knopp, C., Julia Suh, D. S., Maier, A., Toosi, M. B., Karimiani, E. G., Maroofian, R., Schaefer, G. B., Ramakumaran, V., Vasudevan, P., Prasad, C., Osmond, M., Schuhmann, S., Vasileiou, G., Russ-Hall, S., Scheffer, I. E., Carvill, G. L., Mefford, H., Acosta, M. T., Adam, M., Adams, D. R., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Bacino, C. A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Boyd, B., Briere, L. C., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Chang, T. C. P., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Dell'Angelica, E. C., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Gahl, W. A., Glass, I., Gochuico, B., Goddard, P. C., Godfrey, R. A., Golden-Grant, K., Grajewski, A., Hadley, D., Hahn, S., Halley, M. C., Hamid, R., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Karaviti, L., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Kozuira, M., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., LeBlanc, K., Lee, B. H., Levitt, R., Liu, P., Liu, X. Z., Longo, N., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Maghiro, A. S., Mahoney, R., Pak, S., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Jan 4 2024, In: American journal of human genetics. 111, 1, p. 96-118 23 p.

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

Open Access

5 Scopus citations

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Deciphering Developmental Disorders, Genomics England Research Consortium, Undiagnosed Disease Network, Jeffries, L., Mis, E. K., McWalter, K., Donkervoort, S., Brodsky, N. N., Carpier, J. M., Ji, W., Ionita, C., Roy, B., Morrow, J. S., Darbinyan, A., Iyer, K., Aul, R. B., Banka, S., Chao, K. R., Cobbold, L. & Cohen, S. & 183 others, Custodio, H. M., Drummond-Borg, M., Elmslie, F., Finanger, E., Hainline, B. E., Helbig, I., Hewson, S., Hu, Y., Jackson, A., Josifova, D., Konstantino, M., Leach, M. E., Mak, B., McCormick, D., McGee, E., Nelson, S., Nguyen, J., Nugent, K., Ortega, L., Goodkin, H. P., Roeder, E., Roy, S., Sapp, K., Saade, D., Sisodiya, S. M., Stals, K., Towner, S., Wilson, W., Borras, S., Clark, C., Dean, J., Miedzybrodzka, Z., Ross, A., Tennant, S., Dabir, T., Donnelly, D., Humphreys, M., Magee, A., McConnell, V., McKee, S., McNerlan, S., Morrison, P. J., Rea, G., Stewart, F., Cole, T., Cooper, N., Cooper-Charles, L., Cox, H., Islam, L., Jarvis, J., Keelagher, R., Lim, D., McMullan, D., Morton, J., Naik, S., O'Driscoll, M., Ong, K. R., Osio, D., Ragge, N., Turton, S., Vogt, J., Williams, D., Bodek, S., Donaldson, A., Hills, A., Low, K., Newbury-Ecob, R., Norman, A. M., Roberts, E., Scurr, I., Smithson, S., Tooley, M., Abbs, S., Armstrong, R., Dunn, C., Holden, S., Park, S. M., Paterson, J., Raymond, L., Reid, E., Sandford, R., Simonic, I., Tischkowitz, M., Woods, G., Bradley, L., Comerford, J., Green, A., Lynch, S., McQuaid, S., Mullaney, B., Berg, J., Goudie, D., Mavrak, E., McLean, J., McWilliam, C., Reavey, E., Azam, T., Cleary, E., Jackson, A., Lam, W., Lampe, A., Moore, D., Porteous, M., Baple, E., Baptista, J., Brewer, C., Castle, B., Kivuva, E., Owens, M., Rankin, J., Shaw-Smith, C., Turner, C., Turnpenny, P., Tysoe, C., Bradley, T., Davidson, R., Gardiner, C., Joss, S., Kinning, E., Longman, C., McGowan, R., Murday, V., Pilz, D., Tobias, E., Whiteford, M., Williams, N., Barnicoat, A., Clement, E., Faravelli, F., Hurst, J., Jenkins, L., Jones, W., Ajith Kumar, V. K., Lees, M., Loughlin, S., Male, A., Morrogh, D., Rosser, E., Scott, R., Wilson, L., Beleza, A., Deshpande, C., Flinter, F., Holder, M., Irving, M., Izatt, L., Mohammed, S., Molenda, A., Robert, L., Roworth, W., Ruddy, D., Ryten, M., Yau, S., Bennett, C., Blyth, M., Campbell, J., Coates, A., Dobbie, A., Hewitt, S., Hobson, E., Jackson, E., Jewell, R., Kraus, A., Prescott, K., Sheridan, E., Thomson, J., Bradshaw, K., Dixit, A., Eason, J., Haines, R., Harrison, R., Mutch, S., Sarkar, A., Searle, C., Shannon, N., Sharif, A., Baldridge, D., Cole, F. S., Pak, S., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Feb 2024, In: Genetics in Medicine. 26, 2, 101023.

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

Open Access

1 Scopus citations

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

Genomics England Research Consortium, Dodd, D. O., Mechaussier, S., Yeyati, P. L., McPhie, F., Anderson, J. R., Khoo, C. J., Shoemark, A., Gupta, D. K., Attard, T., Zariwala, M. A., Legendre, M., Bracht, D., Wallmeier, J., Gui, M., Fassad, M. R., Parry, D. A., Tennant, P. A., Meynert, A. & Wheway, G. & 64 others, Fares-Taie, L., Black, H. A., Mitri-Frangieh, R., Faucon, C., Kaplan, J., Patel, M., McKie, L., Megaw, R., Gatsogiannis, C., Mohamed, M. A., Aitken, S., Gautier, P., Reinholt, F. R., Hirst, R. A., O’Callaghan, C., Heimdal, K., Bottier, M., Escudier, E., Crowley, S., Descartes, M., Jabs, E. W., Kenia, P., Amiel, J., Bacci, G. M., Calogero, C., Palazzo, V., Tiberi, L., Blümlein, U., Rogers, A., Wambach, J. A., Wegner, D. J., Fulton, A. B., Kenna, M., Rosenfeld, M., Holm, I. A., Quigley, A., Hall, E. A., Murphy, L. C., Cassidy, D. M., von Kriegsheim, A., Partnership, S. G., Network, U. D., Papon, J. F., Pasquier, L., Murris, M. S., Chalmers, J. D., Hogg, C., Macleod, K. A., Urquhart, D. S., Unger, S., Aitman, T. J., Amselem, S., Leigh, M. W., Knowles, M. R., Omran, H., Mitchison, H. M., Brown, A., Marsh, J. A., Welburn, J. P. I., Ti, S. C., Horani, A., Rozet, J. M., Perrault, I. & Mill, P., Apr 26 2024, In: Science. 384, 6694, eadf5489.

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

Open Access

15 Scopus citations

Clinical and research innovations in childhood interstitial lung disease (chILD)

Wambach, J. A. & Vece, T. J., Sep 2024, In: Pediatric Pulmonology. 59, 9, p. 2233-2235 3 p.

Research output: Contribution to journal › Editorial

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

Undiagnosed Diseases Network, Nov 2024, In: Pediatric Neurology. 160, p. 45-53 9 p.

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

Open Access

1 Scopus citations

De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities

Undiagnosed Diseases Network, Ward, S. K., Wadley, A., Tsai, C. H., Benke, P. J., Emrick, L., Fisher, K., Houck, K. M., Dai, H., Acosta, M. T., Adam, M., Adams, D. R., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Bacino, C. A., Bademci, G. & Balasubramanyam, A. & 181 others, Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Boyd, B., Briere, L. C., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Chang, T. C. P., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Dell'Angelica, E. C., Dickson, P., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Gahl, W. A., Glass, I., Gochuico, B., Goddard, P. C., Godfrey, R. A., Golden-Grant, K., Grajewski, A., Hadley, D., Hahn, S., Halley, M. C., Hamid, R., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Karaviti, L., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Kozuira, M., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., LeBlanc, K., Lee, B. H., Levitt, R., Lewis, R. 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., Maghiro, A. S., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Maravilla, K., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCray, A. T., McGee, E., Mefford, H., Merritt, J. L., Might, M., Mirzaa, G., Morava, E., Moretti, P., Mulvihill, J., Nakano-Okuno, M., Nelson, S. F., Newman, J. H., Nicholas, S. K., Nickerson, D., Nieves-Rodriguez, S., 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., Potocki, L., Pusey Swerdzewski, B. N., Quinlan, A., Rao, D. A., Raper, A., Raskind, W., Renteria, G., Reuter, C. M., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Jan 2024, In: American Journal of Medical Genetics, Part A. 194, 1, p. 17-30 14 p.

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

De novo variants in DENND5B cause a neurodevelopmental disorder

Undiagnosed Diseases Network, Scala, M., Tomati, V., Ferla, M., Lena, M., Cohen, J. S., Fatemi, A., Brokamp, E., Bican, A., Phillips, J. A., Koziura, M. E., Nicouleau, M., Rio, M., Siquier, K., Boddaert, N., Musante, I., Tamburro, S., Baldassari, S., Iacomino, M. & Scudieri, P. & 181 others, Acosta, M. T., Adams, D. R., Alvarez, R. L., Alvey, J., Allworth, A., Andrews, A., Ashley, E. A., Afzali, B., Bacino, C. A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Bernstein, J. A., Berry, G. T., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Briere, L. C., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Chang, T. C. P., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Delgado, M., Dell'Angelica, E. C., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Fu, J., Gahl, W. A., Glass, I., Goddard, P. C., Godfrey, R. A., Grajewski, A., Gropman, A., Halley, M. C., Hamid, R., Hanchard, N., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Huang, Y., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Kaitryn, E., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., LeBlanc, K., Lee, B. H., Levitt, R., Lewis, R. 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., Maghiro, A. S., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCray, A. T., McGee, E., Might, M., Miller, D., Mirzaa, G., Morava, E., Moretti, P., Morimoto, M., Mulvihill, J. J., Nakano-Okuno, M., Nelson, S. F., Nieves-Rodriguez, S., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Pallais, J. C., Papp, J. C., Parker, N. H., Petcharet, L., Posey, J. E., Potocki, L., Swerdzewski, B. N. P., Quinlan, A., Rao, D. A., Raper, A., Raskind, W., Renteria, G., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Mar 7 2024, In: American journal of human genetics. 111, 3, p. 529-543 15 p.

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

Open Access

3 Scopus citations

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

Undiagnosed Diseases Network, Sep 2024, In: Genetics in Medicine. 26, 9, 101174.

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

EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder

Undiagnosed Diseases Network, Forghani, I., Lang, S. H., Rodier, M. J., Bivona, S. A., Acosta, M. T., Adam, M., Adams, D. R., Agrawal, P. B., Alejandro, M. E., Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Azamian, M. S., Bacino, C. A., Bademci, G., Baker, E., Balasubramanyam, A. & Baldridge, D. & 181 others, Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bennet, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonnenmann, C., Bonner, D., Botto, L., Boyd, B., Briere, L. C., Brokamp, E., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., 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., Coggins, M., Cole, F. S., Colley, H. A., Cooper, C. M., Cope, H., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Deardorff, M., Dell'Angelica, E. C., Dhar, S. U., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Draper, D. D., Duncan, L., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Esteves, C., Falk, M., Fernandez, L., Ferreira, C., Fieg, E. L., Findley, L. C., Fisher, P. G., Fogel, B. L., Forghani, I., Fresard, L., Gahl, W. A., Glass, I., Gochuico, B., Godfrey, R. A., Golden-Grant, K., Goldman, A. M., Goldrich, M. P., Goldstein, D. B., Grajewski, A., Groden, C. A., Gutierrez, I., Hahn, S., Hamid, R., Hanchard, N. A., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Huang, Y., Huryn, L., Isasi, R., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Karaviti, L., Kennedy, J., Kiley, D., Kobren, S. N., Kohane, I. S., Kohler, J. N., Krakow, D., Krasnewich, D. M., Kravets, E., Korrick, S., Koziura, M., Krier, J. B., Lalani, S. R., Lam, B., Lam, C., LaMoure, G. L., Lanpher, B. C., Lanza, I. R., Latham, L., 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., MacDowall, J., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Majcherska, M. M., Mak, B. C., 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., McGee, E., Mefford, H., Merritt, J. L., Might, M., Mirzaa, G., Morava, E., Moretti, P. M., Mosbrook-Davis, D., Mulvihill, J. J., Murdock, D. R., Nagy, A., Nakano-Okuno, M., Nath, A., Nelson, S. F., Newman, J. H., Nicholas, S. K., Nickerson, D., Nieves-Rodriguez, S., Novacic, D., Pak, S. C., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Jun 2024, In: American Journal of Medical Genetics, Part A. 194, 6, e63556.

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

1 Scopus citations

Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

Undiagnosed Diseases Network, Pucel, J., Briere, L. C., Reuter, C., Gochyyev, P., Acosta, M. T., Adams, D. R., Alvarez, R. L., Alvey, J., Allworth, A., Andrews, A., Ashley, E. A., Bacino, C. A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D. & Bayrak-Toydemir, P. & 181 others, Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Peter Chang, T. C., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Dell'Angelica, E. C., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Gahl, W. A., Glass, I., Gochuico, B., Goddard, P. C., Godfrey, R. A., Grajewski, A., Hadley, D., Halley, M. C., Hamid, R., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Kaitryn, E., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., LeBlanc, K., Lee, B. H., Levitt, R., Lewis, R. 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., Maghiro, A. S., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCray, A. T., McGee, E., Might, M., Miller, D., Mirzaa, G., Morava, E., Moretti, P., Mulvihill, J. J., Nakano-Okuno, M., Nelson, S. F., Nieves-Rodriguez, S., 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., Potocki, L., Pusey Swerdzewski, B. N., Quinlan, A., Rao, D. A., Raper, A., Raskind, W., Renteria, G., Reuter, C. M., Rives, L., Robertson, A. K., Rodan, L. H., Rosenfeld, J. A., Rosenthal, E., Rossignol, F., Ruzhnikov, M., Sacco, R., Sampson, J. B., Saporta, M., Schaechter, J., Schedl, T., Schoch, K., Scott, D. A., Seto, E., Shashi, V., Shelkowitz, E., Sheppeard, S., Shin, J., Silverman, E. K., Solnica-Krezel, L. & Wambach, J., Jun 2024, In: Genetics in Medicine. 26, 6, 101115.

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

Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure

Wambach, J. A., Wegner, D. J., Kitzmiller, J., White, F. V., Heins, H. B., Yang, P., Paul, A. J., Granadillo, J. L., Eghtesady, P., Kuklinski, C., Turner, T., Fairman, K., Stone, K., Wilson, T., Breman, A., Smith, J., Schroeder, M. C., Neidich, J. A., Whitsett, J. A. & Cole, F. S., Jan 2024, In: American Journal of Respiratory Cell and Molecular Biology. 70, 1, p. 78-80 3 p.

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

1 Scopus citations

Human pluripotent stem cell modeling of alveolar type 2 cell dysfunction caused by ABCA3 mutations

Sun, Y. L., Hennessey, E. E., Heins, H., Yang, P., Villacorta-Martin, C., Kwan, J., Gopalan, K., James, M., Emili, A., Cole, F. S., Wambach, J. A. & Kotton, D. N., Jan 16 2024, In: Journal of Clinical Investigation. 134, 2, e164274.

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

Open Access

6 Scopus citations

Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant

Undiagnosed Diseases Network, Aug 2024, In: American Journal of Medical Genetics, Part A. 194, 8, e63627.

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

Open Access

Inherited Disorders of Surfactant Metabolism

Wambach, J. A., Nogee, L. M., Hamvas, A. & Cole, S., Jan 1 2024, Nelson Textbook of Pediatrics: Volume 1-2. Elsevier, p. 2686-2687.e1

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

Innovations in Childhood Interstitial and Diffuse Lung Disease

Casey, A., Fiorino, E. K. & Wambach, J., Sep 2024, In: Clinics in Chest Medicine. 45, 3, p. 695-715 21 p.

Research output: Contribution to journal › Review article › peer-review

Large-Scale Mutational Analysis Identifies UNC93B1 Variants that Drive TLR-Mediated Autoimmunity in Mice and Humans

Rael, V. E., Yano, J. A., Huizar, J. P., Slayden, L. C., Weiss, M. A., Turcotte, E. A., Terry, J. M., Zuo, W., Thiffault, I., Pastinen, T., Farrow, E. G., Jenkins, J. L., Becker, M. L., Wong, S. C., Stevens, A. M., Otten, C., Allenspach, E. J., Bonner, D. E., Bernstein, J. A. & Wheeler, M. T. & 243 others, Saxton, R. A., Liu, B., Majer, O., Barton, G. M., Acosta, M. T., Adams, D. R., Alvarez, R. L., Alvey, J., Allworth, A., Andrews, A., Ashley, E. A., Afzali, B., Bacino, C. A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Briere, L. C., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Cassini, T., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Sessions Cole, F., Colley, H. A., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D’souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Delgado, M., Dell’angelica, E. C., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Fu, J., Gahl, W. A., Glass, I., Goddard, P. C., Godfrey, R. A., Gropman, A., Halley, M. C., Hamid, R., Hanchard, N., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Huang, Y., Hutchison, S., Introne, W., Izumi, K., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Kaitryn, E., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, C., Lanpher, B. C., Lanza, I. R., Leblanc, K., Lee, B. H., Lewis, R. A., Liu, P., Longo, N., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., Macrae, C. A., Maduro, V. V., Maghiro, A. S., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McConkie-Rosell, A., McCray, A. T., McGee, E., Might, M., Mikati, M., Miller, D., Mirzaa, G., Morava, E., Moretti, P., Morimoto, M., Mulvihill, J. J., Nakano-Okuno, M., Nelson, S. F., Nieves-Rodriguez, S., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Carl Pallais, J., Papp, J. C., Parker, N. H., Petcharet, L., Phillips, J. A., Posey, J. E., Potocki, L., Pusey, B. N., Swerdzewski, Quinlan, A., Rao, D. A., Raper, A., Raskind, W., Renteria, G., Reuter, C. M., Rives, L., Robertson, A. K., Rodan, L. H., Rosenfeld, J. A., Rosenthal, E., Rossignol, F., Ruzhnikov, M., Sabaii, M., Sampson, J. B., Schedl, T., Schoch, K., Scott, D. A., Seto, E., Sharma, P., Shashi, V., Shelkowitz, E., Sheppeard, S., Shin, J., Silverman, E. K., Sinsheimer, J. S., Sisco, K., Smith, K. S., Solnica-Krezel, L., Solomon, B., Spillmann, R. C., Stergachis, A., Stoler, J. M., Sullivan, K., Sutton, S., Sweetser, D. A., Sybert, V., Tabor, H. K., Tan, Q. K. G., Tan, A. L. M., Tarakad, A., Taylor, H., Tekin, M., Thorson, W., Tifft, C. J., Toro, C., Tran, A. A., Ungar, R. A., Urv, T. K., Vanderver, A., Velinder, M., Viskochil, D., Vogel, T. P., Wahl, C. E., Walker, M., Walley, N. M., Wambach, J., Wan, J., Wang, L. K., Wangler, M. F., Ward, P. A., Wegner, D., Hubshman, M. W., Wener, M., Wenger, T., Westerfield, M., Wheeler, M. T., Whitlock, J., Wolfe, L. A., Worley, K., Yamamoto, S., Zhang, Z. & Zuchner, S., Aug 5 2024, In: Journal of Experimental Medicine. 221, 8, e20232005.

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

Open Access

14 Scopus citations

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

Undiagnosed Diseases Network, Nov 2024, In: Genetics in Medicine. 26, 11, 101218.

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

Open Access

Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder

Undiagnosed Diseases Network, Sep 2024, In: Genetics in Medicine. 26, 9, 101166.

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

2 Scopus citations

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

Undiagnosed Diseases Network, Lu, J., Toro, C., Adams, D. R., Moreno, C. A. M., Lee, W. P., Leung, Y. Y., Harms, M. B., Vardarajan, B., Heinzen, E. L., Acosta, M. T., Adam, M., Izumi, K., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Bacino, C. A. & Bademci, G. & 181 others, Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Boyd, B., Briere, L. C., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Chang, T. C. P., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D’Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Dell’Angelica, E. C., Dickson, P., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Gahl, W. A., Glass, I., Gochuico, B., Goddard, P. C., Godfrey, R. A., Golden-Grant, K., Grajewski, A., Hadley, D., Hahn, S., Halley, M. C., Hamid, R., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Karaviti, L., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Kozuira, M., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., LeBlanc, K., Lee, B. H., Levitt, R., Lewis, R. 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., Maghiro, A. S., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Maravilla, K., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCray, A. T., McGee, E., Mefford, H., Merritt, J. L., Might, M., Mirzaa, G., Morava, E., Moretti, P., Mulvihill, J., Nakano-Okuno, M., Nelson, S. F., Newman, J. H., Nicholas, S. K., Nickerson, D., Nieves-Rodriguez, S., 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., Potocki, L., Swerdzewski, B. N. P., Quinlan, A., Rao, D. A., Raper, A., Raskind, W., Renteria, G., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Dec 2024, In: BMC genomics. 25, 1, 115.

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

Open Access

Noninvasive management of infants with SFTPC pathogenic variants

Liptzin, D. R., McGraw, M. D., Stidham, T., Wambach, J. A. & Deterding, R. R., Feb 2024, In: Pediatric Pulmonology. 59, 2, p. 488-491 4 p.

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

3 Scopus citations

Pulmonary Alveolar Proteinosis

Wambach, J. A., Nogee, L. M., Cole, S. & Hamvas, A., Jan 1 2024, Nelson Textbook of Pediatrics: Volume 1-2. Elsevier, p. 2686-2687.e1

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy

Undiagnosed Diseases Network, Nov 2024, In: American Journal of Medical Genetics, Part A. 194, 11, e63798.

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

Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism

Undiagnosed Diseases Network, Dohrn, M. F., Bademci, G., Rebelo, A. P., Jeanne, M., Borja, N. A., Beijer, D., Danzi, M. C., Bivona, S. A., Gueguen, P., Zafeer, M. F., Tekin, M., Züchner, S., Acosta, M. T., Adams, D. R., Afzali, B., Allworth, A., Alvarez, R. L., Alvey, J. & Andrews, A. & 181 others, Ashley, E. A., Bacino, C. A., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Borja, N., Botto, L., Briere, L. C., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Cassini, T., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, S., Colley, H. A., Cope, H., Corner, B., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Delgado, M., Dell'Angelica, E. C., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., D'Souza, P., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Ezell, K., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Fu, J., Gahl, W. A., Glass, I., Goddard, P. C., Godfrey, R. A., Gonzalez, J. M., Gropman, A., Halley, M. C., Hamid, R., Hanchard, N., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, Y., Huang, A., Hutchison, S., Introne, W., Izumi, K., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Kaitryn, E., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, C., Lanpher, B. C., Lanza, I. R., Latchman, K., LeBlanc, K., Lee, B. H., Lewis, R. A., Liu, P., Longo, N., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Maghiro, A. S. C., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McConkie-Rosell, A., McCray, A. T., McGee, E., Might, M., Miller, D., Mirzaa, G., Morava, E., Moretti, P., Morimoto, M., Mulvihill, J. J., Nakano-Okuno, M., Nelson, S. F., Neumann, S., Nieves-Rodriguez, S., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Pallais, J. C., Papp, J. C., Parker, N. H., Peart, L., Petcharet, L., Phillips, J. A., Posey, J. E., Potocki, L., Pusey Swerdzewski, B. N., Quinlan, A., Rao, D. A., Raper, A., Raskind, W., Rebelo, A., Renteria, G., Reuter, C. M., Rives, L., Robertson, A. K., Rodan, L. H., Rosenfeld, J. A., Rosenthal, E., Rossignol, F., Ruzhnikov, M., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Apr 2024, In: Annals of Clinical and Translational Neurology. 11, 4, p. 1075-1079 5 p.

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

Open Access

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

Undiagnosed Diseases Network, Mar 2024, In: Annals of Clinical and Translational Neurology. 11, 3, p. 629-640 12 p.

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

Open Access

2 Scopus citations

Respiratory Distress Syndrome in the Neonate

Lagoski, M., Hamvas, A. & Wambach, J. A., Jan 1 2024, Fanaroff and Martin's Neonatal-Perinatal Medicine, 2-Volume Set: Diseases of the Fetus and Infant. Elsevier, p. 1226-1239 14 p.

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

Undiagnosed Diseases Network, Oct 2024, In: Genetics in Medicine. 26, 10, 101203.

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

The US national registry for childhood interstitial and diffuse lung disease: Report of study design and initial enrollment cohort

for the chILD Registry Collaborative, Nevel, R. J., Deutsch, G. H., Craven, D., Deterding, R., Fishman, M. P., Wambach, J. A., Casey, A., Krone, K., Liptzin, D. R., O'Connor, M. G., Kurland, G., Taylor, J. B., Gower, W. A., Hagood, J. S., Conrad, C., Tam-Williams, J. B., Fiorino, E. K., Goldfarb, S. & Sadreameli, S. C. & 16 others, Nogee, L. M., Montgomery, G., Hamvas, A., Laguna, T. A., Bansal, M., Lew, C., Santiago, M., Popova, A., De, A., Chan, M., Powers, M. R., Josephson, M. B., Camburn, D., Voss, L., Li, Y. & Young, L. R., Sep 2024, In: Pediatric Pulmonology. 59, 9, p. 2236-2246 11 p.

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

Open Access

12 Scopus citations

2023

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

Undiagnosed Diseases Network, Undiagnosed Diseases Network, Baldridge, D., Cole, F. S., Pak, S., Quinlan, A., Schedl, T., Solnica-Krezel, L. & Wambach, J., Apr 2023, In: Genetics in Medicine. 25, 4, 100353.

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

Open Access

1 Scopus citations

ATP binding cassette member A3 (ABCA3): Coming of age

Casey, A., Nogee, L. & Wambach, J., Jun 1 2023, In: Thorax. 78, 6, p. 533-534 2 p.

Research output: Contribution to journal › Editorial

Open Access

1 Scopus citations

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

Undiagnosed Diseases Network, Baldridge, D., Cole, F. S., Pak, S., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Dec 2023, In: npj Genomic Medicine. 8, 1, 4.

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

Open Access

7 Scopus citations

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

Undiagnosed Diseases Network, Granadillo De Luque, J. L., Wegner, D. J., Baldridge, D., Bohnsack, J., Cole, F. S., McCray, A. T., McGee, E., Merritt, J. L., Shin, J. & Wambach, J., May 4 2023, In: American journal of human genetics. 110, 5, p. 774-789 16 p.

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

Open Access

12 Scopus citations

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Undiagnosed Diseases Network, Shashi, V., Schoch, K., Ganetzky, R., Muraresku, C., Ganetzky, R., Kranz, P. G., Sondheimer, N., Markert, M. L., Valdez, P., Markert, M. L., Cope, H., Sadeghpour, A., Sadeghpour, A., Roehrs, P., Arbogast, T., Davis, E. E., Tyndall, A. V., Ping-Yee Au, B. & Parboosingh, J. S. & 181 others, Lamont, R. E., Bernier, F. P., Innes, A. M., Esser, M. J., Woodward, K. E., Wright, N. A. M., Benseler, S. M., Parsons, S. J., El-Dairi, M., Smith, E. C., Tennison, M., Davis, E. E., Acosta, M. T., Adam, M., Adams, D. R., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Bacino, C. A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Boyd, B., Briere, L. C., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Peter Chang, T. C., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Dell'Angelica, E. C., Dickson, P., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Gahl, W. A., Glass, I., Gochuico, B., Goddard, P. C., Godfrey, R. A., Golden-Grant, K., Grajewski, A., Hadley, D., Hahn, S., Halley, M. C., Hamid, R., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Karaviti, L., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Kozuira, M., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., LeBlanc, K., Lee, B. H., Levitt, R., Lewis, R. 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., Maghiro, A. S., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Maravilla, K., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCray, A. T., McGee, E., Mefford, H., Merritt, J. L., Might, M., Mirzaa, G., Morava, E., Moretti, P., Mulvihill, J., Nakano-Okuno, M., Pak, S., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Sep 2023, In: Genetics in Medicine. 25, 9, 100897.

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

Open Access

6 Scopus citations

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

Undiagnosed Disease Network, Baldridge, D., Cole, F. S., Pak, S., Schedl, T., Solnica-Krezel, L. & Wambach, J., Dec 2023, In: Orphanet Journal of Rare Diseases. 18, 1, 6.

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

Open Access

2 Scopus citations

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Morleo, M., Venditti, R., Theodorou, E., Briere, L. C., Rosello, M., Tirozzi, A., Tammaro, R., Al-Badri, N., High, F. A., Shi, J., Acosta, M. T., Adam, M., Adams, D. R., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A. & Ashley, E. A. & 182 others, Bacino, C. A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Boyd, B., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Chang, T. C. P., Chanprasert, S., Chao, H. T., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cooper, C. M., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Dell'Angelica, E. C., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Gahl, W. A., Glass, I., Gochuico, B., Goddard, P. C., Godfrey, R. A., Golden-Grant, K., Grajewski, A., Hadley, D., Hahn, S., Halley, M. C., Hamid, R., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Karaviti, L., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Kozuira, M., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., LeBlanc, K., Lee, B. H., Levitt, R., Lewis, R. 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., Maghiro, A. S., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Maravilla, K., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCray, A. T., McGee, E., Mefford, H., Merritt, J. L., Might, M., Mirzaa, G., Morava, E., Moretti, P., Mulvihill, J., Nakano-Okuno, M., Nelson, S. F., Newman, J. H., Nicholas, S. K., Nickerson, D., Nieves-Rodriguez, S., 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., Potocki, L., Pusey Swerdzewski, B. N., Quinlan, A., Rao, D. A., Raper, A., Raskind, W., Renteria, G., Reuter, C. M., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Aug 3 2023, In: American journal of human genetics. 110, 8, p. 1377-1393 17 p.

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

Open Access

2 Scopus citations

De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

Undiagnosed Diseases Network, Baldridge, D., Bellen, H. J., Cole, F. S., Pak, S., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Jun 2023, In: Genetics in Medicine. 25, 6, 100833.

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

Open Access

4 Scopus citations

Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

University of Washington Center for Mendelian Genomics (UW-CMG), Undiagnosed Diseases Network (UDN), Jun 2023, In: Annals of Clinical and Translational Neurology. 10, 6, p. 1046-1053 8 p.

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

Open Access

3 Scopus citations

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

Undiagnosed Diseases Network, Halley, M. C., Young, J. L., Tang, C., Mintz, K. T., Lucas-Griffin, S., Maghiro, A. S., Ashley, E. A., Tabor, H. K., Acosta, M. T., Adam, M., Adams, D. R., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Bacino, C. A., Bademci, G., Balasubramanyam, A. & Baldridge, D. & 181 others, Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Boyd, B., Briere, L. C., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Peter Chang, T. C., Chanprasert, S., Chao, H. T., Chinn, I., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Sessions Cole, F., Colley, H. A., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Dell'Angelica, E. C., Dickson, P., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Gahl, W. A., Glass, I., Gochuico, B., Goddard, P. C., Godfrey, R. A., Golden-Grant, K., Grajewski, A., Hadley, D., Hahn, S., Hamid, R., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jarvik, G. P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Ketkar, S., Kiley, D., Kilich, G., Kobren, S. N., Kohane, I. S., Kohler, J. N., Korrick, S., Kozuira, M., Krakow, D., Krasnewich, D. M., Kravets, E., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., LeBlanc, K., Lee, B. H., Levitt, R., Lewis, R. 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., Mahoney, R., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Maravilla, K., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCray, A. T., McGee, E., Mefford, H., Merritt, J. L., Might, M., Mirzaa, G., Morava, E., Moretti, P., Mulvihill, J. J., Nakano-Okuno, M., Nelson, S. F., Newman, J. H., Nickerson, D., Nieves-Rodriguez, S., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Carl Pallais, J., Palmer, C. G. S., Papp, J. C., Parker, N. H., Phillips, J. A., Posey, J. E., Potocki, L., Pusey Swerdzewski, B. N., Quinlan, A., Rao, D. A., Raper, A., Raskind, W., Renteria, G., Reuter, C. M., Rives, L., Robertson, A. K., Rodan, L. H., Rosenfeld, J. A., Rosenwasser, N., Rossignol, F., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Oct 2023, In: Journal of Pediatrics. 261, 113537.

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

Open Access

2 Scopus citations

H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome

Undiagnosed Diseases Network, Baldridge, D., Cole, F. S., Pak, S. C., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Jul 2023, In: American Journal of Medical Genetics, Part A. 191, 7, p. 1911-1916 6 p.

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

Open Access

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

Genomics England Research Consortium & Undiagnosed Diseases Network, Aug 3 2023, In: American journal of human genetics. 110, 8, p. 1414-1435 22 p.

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

Open Access

9 Scopus citations

Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B

Viehl, L., Wegner, D. J., Hmiel, S. P., White, F. V., Jain, S., Cole, F. S. & Wambach, J. A., Feb 2023, In: Pediatric Nephrology. 38, 2, p. 605-609 5 p.

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

1 Scopus citations

Novel FOXF1-Stabilizing Compound TanFe Stimulates Lung Angiogenesis in Alveolar Capillary Dysplasia

Pradhan, A., Che, L., Ustiyan, V., Reza, A. A., Pek, N. M., Zhang, Y., Alber, A. B., Kalin, T. R., Wambach, J. A., Gu, M., Kotton, D. N., Siefert, M. E., Ziady, A. G., Kalin, T. V. & Kalinichenko, V. V., Apr 15 2023, In: American journal of respiratory and critical care medicine. 207, 8, p. 1042-1054 13 p.

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

Open Access

17 Scopus citations

Participation in a national diagnostic research study: assessing the patient experience

The Undiagnosed Diseases Network, Baldridge, D., Cole, F. S., Pak, S., Schedl, T., Shin, J., Solnica-Krezel, L. & Wambach, J., Dec 2023, In: Orphanet Journal of Rare Diseases. 18, 1, 73.

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

Open Access

3 Scopus citations

Jennifer Wambach

Research output

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