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Page 1
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: dinulos mb. 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.
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: dinulos mb. 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.
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Ajmone PF, Badura-Stronka M, Baldo C, Baldi M, Bayat A, Bigoni S, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, De Brasi D, Devriendt K, Dinulos MB, Hjortshøj TD, Epifanio R, Faravelli F, Fiumara A, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Kuburovic V, Kutkowska-Kazmierczak A, Lacombe D, Lo Rizzo C, Luchetti A, Malbora B, Mammi I, Mari F, Montorsi G, Moutton S, Møller RS, Muschke P, Nielsen JEK, Obersztyn E, Pantaleoni C, Pellicciari A, Pisanti MA, Prpic I, Poch-Olive ML, Raviglione F, Renieri A, Ricci E, Rivieri F, Santen GW, Savasta S, Scarano G, Schanze I, Selicorni A, Silengo M, Smigiel R, Spaccini L, Sorge G, Szczaluba K, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zenker M, Conidi A, Zollino M, Rauch A, Zweier C, Garavelli L. Ivanovski I, et al. Among authors: dinulos mb. Genet Med. 2018 Sep;20(9):965-975. doi: 10.1038/gim.2017.221. Epub 2018 Jan 4. Genet Med. 2018. PMID: 29300384 Free article.
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
Carter LB, Battaglia A, Cherry A, Manning MA, Ruzhnikov MR, Bird LM, Dowsett L, Graham JM Jr, Alkuraya FS, Hashem M, Dinulos MB, Vallee S, Adam MP, Glass I, Beck AE, Stevens CA, Zackai E, McDougall C, Keena B, Peron A, Vignoli A, Seaver LH, Slavin TP, Hudgins L. Carter LB, et al. Among authors: dinulos mb. Am J Med Genet A. 2019 Aug;179(8):1543-1546. doi: 10.1002/ajmg.a.61266. Epub 2019 Jun 17. Am J Med Genet A. 2019. PMID: 31207089 Free PMC article. Review.
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR. Garavelli L, et al. Among authors: dinulos mb. Genet Med. 2017 Jun;19(6):691-700. doi: 10.1038/gim.2016.176. Epub 2016 Nov 10. Genet Med. 2017. PMID: 27831545 Free PMC article.
Considerations for policymakers for improving health care through telegenetics: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Williams HE, Aiyar L, Dinulos MB, Flannery D, McClure ML, Lloyd-Puryear MA, Sanghavi K, Trotter TL, Viskochil D; ACMG Advocacy and Government Affairs Committee. Electronic address: documents@acmg.net. Williams HE, et al. Among authors: dinulos mb. Genet Med. 2022 Nov;24(11):2211-2219. doi: 10.1016/j.gim.2022.07.017. Epub 2022 Aug 30. Genet Med. 2022. PMID: 36040445 Free article. No abstract available.
Expansile bone lesions in a three-generation family.
Dinulos MB, Sternen DL, Graham CB, Hudgins L. Dinulos MB, et al. Am J Med Genet. 1999 Jan 1;82(1):1-5. doi: 10.1002/(sici)1096-8628(19990101)82:1<1::aid-ajmg1>3.0.co;2-7. Am J Med Genet. 1999. PMID: 9916834
Autosomal dominant inheritance of Barber-Say syndrome.
Dinulos MB, Pagon RA. Dinulos MB, et al. Am J Med Genet. 1999 Sep 3;86(1):54-6. doi: 10.1002/(sici)1096-8628(19990903)86:1<54::aid-ajmg10>3.0.co;2-2. Am J Med Genet. 1999. PMID: 10440829
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.
Nevado J, Rosenfeld JA, Mena R, Palomares-Bralo M, Vallespín E, Ángeles Mori M, Tenorio JA, Gripp KW, Denenberg E, Del Campo M, Plaja A, Martín-Arenas R, Santos-Simarro F, Armengol L, Gowans G, Orera M, Sanchez-Hombre MC, Corbacho-Fernández E, Fernández-Jaén A, Haldeman-Englert C, Saitta S, Dubbs H, Bénédicte DB, Li X, Devaney L, Dinulos MB, Vallee S, Crespo MC, Fernández B, Fernández-Montaño VE, Rueda-Arenas I, de Torres ML, Ellison JW, Raskin S, Venegas-Vega CA, Fernández-Ramírez F, Delicado A, García-Miñaúr S, Lapunzina P. Nevado J, et al. Among authors: dinulos mb. Eur J Hum Genet. 2015 Dec;23(12):1615-26. doi: 10.1038/ejhg.2015.51. Epub 2015 Apr 8. Eur J Hum Genet. 2015. PMID: 25853300 Free PMC article.
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