PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly

by Mzoughi, S., Di Tullio, F., Low, D.H.P., Motofeanu, C.-M., Ong, S.L.M., Wollmann, H., Wun, C.M., Kruszka, P., Muenke, M., Hildebrandt, F., Dunn, N.R., Messerschmidt, D.M., Guccione, E.
Published 2021

Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects

by Kruszka P., Tanpaiboon P., Neas K., Crosby K., Berger S., Martinez A., Addissie Y., Pongprot Y., Sittiwangkul R., Silvilairat S., Makonkawkeyoon K., Yu L., Wynn J., Bennett J., Mefford H., Reynolds W., Liu X., Mommersteeg M., Chung W., Lo C., Muenke M.
Published 2017

Noonan syndrome in diverse populations

by Kruszka P., Porras A., Addissie Y., Moresco A., Medrano S., Mok G., Leung G., Tekendo-Ngongang C., Uwineza A., Thong M., Muthukumarasamy P., Honey E., Ekure E., Sokunbi O., Kalu N., Jones K., Kaplan J., Abdul-Rahman O., Vincent L., Love A., Belhassan K., Ouldim K., El Bouchikhi I., Shukla A., Girisha K., Patil S., Sirisena N., Dissanayake V., Paththinige C., Mishra R., Klein-Zighelboim E., Gallardo Jugo B., Chávez Pastor M., Abarca-Barriga H., Skinner S., Prijoles E., Badoe E., Gill A., Shotelersuk V., Smpokou P., Kisling M., Ferreira C., Mutesa L., Megarbane A., Kline A., Kimball A., Okello E., Lwabi P., Aliku T., Tenywa E., Boonchooduang N., Tanpaiboon P., Richieri-Costa A., Wonkam A., Chung B., Stevenson R., Summar M., Mandal K., Phadke S., Obregon M., Linguraru M., Muenke M.
Published 2017