Zurück zum Zitat Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, De Vries BBA, Vissers LELM, Nordenskjold M, Kvarnung M, Lindstrand A, Nordgren A, Gecz J, Iascone M, Cereda A, Scatigno A, Maitz S, Zanni G, Bertini E, Zweier C, Schuhmann S, Wiesener A, Pepper M, Panjwani H, Torti E, Abid F, Anselm I, Srivastava S, Atwal P, Bacino CA, Bhat G, Cobian K, Bird LM, Friedman J, Wright MS, Callewaert B, Petit F, Mathieu S, Afenjar A, Christensen CK, White KM, Elpeleg O, Berger I, Espineli EJ, Fagerberg C, Brasch-Andersen C, Hansen LK, Feyma T, Hughes S, Thiffault I, Sullivan B, Yan S, Keller K, Keren B, Mignot C, Kooy F, Meuwissen M, Basinger A, Kukolich M, Philips M, Ortega L, Drummond-Borg M, Lauridsen M, Sorensen K, Lehman A, Lopez-Rangel E, Levy P, Lessel D, Lotze T, Madan-Khetarpal S, Sebastian J, Vento J, Vats D, Benman LM, McKee S, Mirzaa GM, Muss C, Pappas J, Peeters H, Romano C, Elia M, Galesi O, Simon MEH, van Gassen KLI, Simpson K, Stratton R, Syed S, Thevenon J, Palafoll IV, Vitobello A, Bournez M, Faivre L, Xia K, Acampado J, Ace AJ, Amatya A, Astrovskaya I, Bashar A, Brooks E, Butler ME, Cartner LA, Chin W, Chung WK, Daniels AM, Feliciano P, Fleisch C, Ganesan S, Jensen W, Lash AE, Marini R, Myers VJ, O’Connor E, Rigby C, Robertson BE, Shah N, Shah S, Singer E, Snyder LAG, Stephens AN, Tjernagel J, Vernoia BM, Volfovsky N, White LC, Hsieh A, Shen Y, Zhou X, Turner TN, Bahl E, Thomas TR, Brueggeman L, Koomar T, Michaelson JJ, O’Roak BJ, Barnard RA, Gibbs RA, Muzny D, Sabo A, Baalman Ahmed KL, Eichler EE, Siegel M, Abbeduto L, Amaral DG, Hilscher BA, Li D, Smith K, Thompson S, Albright C, Butter EM, Eldred S, Hanna N, Jones M, Coury DL, Scherr J, Pifher T, Roby E, Dennis B, Higgins L, Brown M, Alessandri M, Gutierrez A, Hale MN, Herbert LM, Schneider HL, David G, Annett RD, Sarver DE, Arriaga I, Camba A, Gulsrud AC, Haley M, McCracken JT, Sandhu S, Tafolla M, Yang WS, Carpenter LA, Bradley CC, Gwynette F, Manning P, Shaffer R, Thomas C, Bernier RA, Fox EA, Gerdts JA, Pepper M, Ho T, Cho D, Piven J, Lechniak H, Soorya LV, Gordon R, Wainer A, Yeh L, Ochoa-Lubinoff C, Russo N, Berry-Kravis E, Booker S, Erickson CA, Prock LM, Pawlowski KG, Matthews ET, Brewster SJ, Hojlo MA, Abada E, Lamarche E, Wang T, Murali SC, Harvey WT, Kaplan HE, Pierce KL, DeMarco L, Horner S, Pandey J, Plate S, Sahin M, Riley KD, Carmody E, Constantini J, Esler A, Fatemi A, Hutter H, Landa RJ, McKenzie AP, Neely J, Singh V, Van Metre B, Wodka EL, Fombonne EJ, Huang-Storms LY, Pacheco LD, Mastel SA, Coppola LA, Francis S, Jarrett A, Jacob S, Lillie N, Gunderson J, Istephanous D, Simon L, Wasserberg O, Rachubinski AL, Rosenberg CR, Kanne SM, Shocklee AD, Takahashi N, Bridwell SL, Klimczac RL, Mahurin MA, Cotrell HE, Grant CA, Hunter SG, Martin CL, Taylor CM, Walsh LK, Dent KA, Mason A, Sziklay A, Smith CJ, Earl RK, Nowakowski T, Bernier RA, Eichler EE, Study C, Consortium S. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Genome Med. 2021;13(1):63. https://doi.org/10.1186/s13073-021-00870-6.CrossRefPubMedPubMedCentral
Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, De Vries BBA, Vissers LELM, Nordenskjold M, Kvarnung M, Lindstrand A, Nordgren A, Gecz J, Iascone M, Cereda A, Scatigno A, Maitz S, Zanni G, Bertini E, Zweier C, Schuhmann S, Wiesener A, Pepper M, Panjwani H, Torti E, Abid F, Anselm I, Srivastava S, Atwal P, Bacino CA, Bhat G, Cobian K, Bird LM, Friedman J, Wright MS, Callewaert B, Petit F, Mathieu S, Afenjar A, Christensen CK, White KM, Elpeleg O, Berger I, Espineli EJ, Fagerberg C, Brasch-Andersen C, Hansen LK, Feyma T, Hughes S, Thiffault I, Sullivan B, Yan S, Keller K, Keren B, Mignot C, Kooy F, Meuwissen M, Basinger A, Kukolich M, Philips M, Ortega L, Drummond-Borg M, Lauridsen M, Sorensen K, Lehman A, Lopez-Rangel E, Levy P, Lessel D, Lotze T, Madan-Khetarpal S, Sebastian J, Vento J, Vats D, Benman LM, McKee S, Mirzaa GM, Muss C, Pappas J, Peeters H, Romano C, Elia M, Galesi O, Simon MEH, van Gassen KLI, Simpson K, Stratton R, Syed S, Thevenon J, Palafoll IV, Vitobello A, Bournez M, Faivre L, Xia K, Acampado J, Ace AJ, Amatya A, Astrovskaya I, Bashar A, Brooks E, Butler ME, Cartner LA, Chin W, Chung WK, Daniels AM, Feliciano P, Fleisch C, Ganesan S, Jensen W, Lash AE, Marini R, Myers VJ, O’Connor E, Rigby C, Robertson BE, Shah N, Shah S, Singer E, Snyder LAG, Stephens AN, Tjernagel J, Vernoia BM, Volfovsky N, White LC, Hsieh A, Shen Y, Zhou X, Turner TN, Bahl E, Thomas TR, Brueggeman L, Koomar T, Michaelson JJ, O’Roak BJ, Barnard RA, Gibbs RA, Muzny D, Sabo A, Baalman Ahmed KL, Eichler EE, Siegel M, Abbeduto L, Amaral DG, Hilscher BA, Li D, Smith K, Thompson S, Albright C, Butter EM, Eldred S, Hanna N, Jones M, Coury DL, Scherr J, Pifher T, Roby E, Dennis B, Higgins L, Brown M, Alessandri M, Gutierrez A, Hale MN, Herbert LM, Schneider HL, David G, Annett RD, Sarver DE, Arriaga I, Camba A, Gulsrud AC, Haley M, McCracken JT, Sandhu S, Tafolla M, Yang WS, Carpenter LA, Bradley CC, Gwynette F, Manning P, Shaffer R, Thomas C, Bernier RA, Fox EA, Gerdts JA, Pepper M, Ho T, Cho D, Piven J, Lechniak H, Soorya LV, Gordon R, Wainer A, Yeh L, Ochoa-Lubinoff C, Russo N, Berry-Kravis E, Booker S, Erickson CA, Prock LM, Pawlowski KG, Matthews ET, Brewster SJ, Hojlo MA, Abada E, Lamarche E, Wang T, Murali SC, Harvey WT, Kaplan HE, Pierce KL, DeMarco L, Horner S, Pandey J, Plate S, Sahin M, Riley KD, Carmody E, Constantini J, Esler A, Fatemi A, Hutter H, Landa RJ, McKenzie AP, Neely J, Singh V, Van Metre B, Wodka EL, Fombonne EJ, Huang-Storms LY, Pacheco LD, Mastel SA, Coppola LA, Francis S, Jarrett A, Jacob S, Lillie N, Gunderson J, Istephanous D, Simon L, Wasserberg O, Rachubinski AL, Rosenberg CR, Kanne SM, Shocklee AD, Takahashi N, Bridwell SL, Klimczac RL, Mahurin MA, Cotrell HE, Grant CA, Hunter SG, Martin CL, Taylor CM, Walsh LK, Dent KA, Mason A, Sziklay A, Smith CJ, Earl RK, Nowakowski T, Bernier RA, Eichler EE, Study C, Consortium S. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Genome Med. 2021;13(1):63.
https://doi.org/10.1186/s13073-021-00870-6.
CrossRefPubMedPubMedCentral