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EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.
Martin-Almedina S, Martinez-Corral I, Holdhus R, Vicente A, Fotiou E, Lin S, Petersen K, Simpson MA, Hoischen A, Gilissen C, Jeffery H, Atton G, Karapouliou C, Brice G, Gordon K, Wiseman JW, Wedin M, Rockson SG, Jeffery S, Mortimer PS, Snyder MP, Berland S, Mansour S, Makinen T, Ostergaard P. Martin-Almedina S, et al. Among authors: berland s. J Clin Invest. 2016 Aug 1;126(8):3080-8. doi: 10.1172/JCI85794. Epub 2016 Jul 11. J Clin Invest. 2016. PMID: 27400125 Free PMC article.
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Martin-Almedina S, Ogmen K, Sackey E, Grigoriadis D, Karapouliou C, Nadarajah N, Ebbing C, Lord J, Mellis R, Kortuem F, Dinulos MB, Polun C, Bale S, Atton G, Robinson A, Reigstad H, Houge G, von der Wense A, Becker WH, Jeffery S, Mortimer PS, Gordon K, Josephs KS, Robart S, Kilby MD, Vallee S, Gorski JL, Hempel M, Berland S, Mansour S, Ostergaard P. Martin-Almedina S, et al. Among authors: berland s. Genet Med. 2021 Jul;23(7):1315-1324. doi: 10.1038/s41436-021-01136-7. Epub 2021 Apr 16. Genet Med. 2021. PMID: 33864021 Free PMC article.
Mutations in EPHB4 cause human venous valve aplasia.
Lyons O, Walker J, Seet C, Ikram M, Kuchta A, Arnold A, Hernández-Vásquez M, Frye M, Vizcay-Barrena G, Fleck RA, Patel AS, Padayachee S, Mortimer P, Jeffery S, Berland S, Mansour S, Ostergaard P, Makinen T, Modarai B, Saha P, Smith A. Lyons O, et al. Among authors: berland s. JCI Insight. 2021 Sep 22;6(18):e140952. doi: 10.1172/jci.insight.140952. JCI Insight. 2021. PMID: 34403370 Free PMC article.
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
Houge G, Haesen D, Vissers LE, Mehta S, Parker MJ, Wright M, Vogt J, McKee S, Tolmie JL, Cordeiro N, Kleefstra T, Willemsen MH, Reijnders MR, Berland S, Hayman E, Lahat E, Brilstra EH, van Gassen KL, Zonneveld-Huijssoon E, de Bie CI, Hoischen A, Eichler EE, Holdhus R, Steen VM, Døskeland SO, Hurles ME, FitzPatrick DR, Janssens V. Houge G, et al. Among authors: berland s. J Clin Invest. 2015 Aug 3;125(8):3051-62. doi: 10.1172/JCI79860. Epub 2015 Jul 13. J Clin Invest. 2015. PMID: 26168268 Free PMC article.
Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Martin-Almedina S, Ogmen K, Sackey E, Grigoriadis D, Karapouliou C, Nadarajah N, Ebbing C, Lord J, Mellis R, Kortuem F, Dinulos MB, Polun C, Bale S, Atton G, Robinson A, Reigstad H, Houge G, von der Wense A, Becker WH, Jeffery S, Mortimer PS, Gordon K, Josephs KS, Robart S, Kilby MD, Vallee S, Gorski JL, Hempel M, Berland S, Mansour S, Ostergaard P. Martin-Almedina S, et al. Among authors: berland s. Genet Med. 2021 Jul;23(7):1376-1377. doi: 10.1038/s41436-021-01202-0. Genet Med. 2021. PMID: 34040196 Free PMC article. No abstract available.
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke PJ, Berland S, Bierhals T, Bilan F, Bindoff LA, Braathen GJ, Busk ØL, Chenbhanich J, Denecke J, Escobar LF, Estes C, Fleischer J, Groepper D, Haaxma CA, Hempel M, Holler-Managan Y, Houge G, Jackson A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad UW, Brenman LM, Martinez-Agosto JA, Might M, Miller DT, Minks KQ, Moghaddam B, Nava C, Nelson SF, Parant JM, Prescott T, Rajabi F, Randrianaivo H, Reiter SF, Schuurs-Hoeijmakers J, Shieh PB, Slavotinek A, Smithson S, Stegmann APA, Tomczak K, Tveten K, Wang J, Whitlock JH, Zweier C, McWalter K, Juusola J, Quintero-Rivera F, Fischer U, Yeo NC, Kreienkamp HJ, Lessel D. Mannucci I, et al. Among authors: berland s. Genome Med. 2021 May 21;13(1):90. doi: 10.1186/s13073-021-00900-3. Genome Med. 2021. PMID: 34020708 Free PMC article.
82 results