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Items: 18

1.

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH.

Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9.

PMID:
31079897
2.

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.

Boonsawat P, Joset P, Steindl K, Oneda B, Gogoll L, Azzarello-Burri S, Sheth F, Datar C, Verma IC, Puri RD, Zollino M, Bachmann-Gagescu R, Niedrist D, Papik M, Figueiro-Silva J, Masood R, Zweier M, Kraemer D, Lincoln S, Rodan L; Undiagnosed Diseases Network (UDN), Passemard S, Drunat S, Verloes A, Horn AHC, Sticht H, Steinfeld R, Plecko B, Latal B, Jenni O, Asadollahi R, Rauch A.

Genet Med. 2019 Mar 7. doi: 10.1038/s41436-019-0464-7. [Epub ahead of print]

PMID:
30842647
3.

Special form of osteoporosis in a 53-year-old man.

Lampart S, Azzarello-Burri S, Henzen C, Fischli S.

BMJ Case Rep. 2018 Dec 13;11(1). pii: e226672. doi: 10.1136/bcr-2018-226672.

PMID:
30567240
4.

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.

Papuc SM, Abela L, Steindl K, Begemann A, Simmons TL, Schmitt B, Zweier M, Oneda B, Socher E, Crowther LM, Wohlrab G, Gogoll L, Poms M, Seiler M, Papik M, Baldinger R, Baumer A, Asadollahi R, Kroell-Seger J, Schmid R, Iff T, Schmitt-Mechelke T, Otten K, Hackenberg A, Addor MC, Klein A, Azzarello-Burri S, Sticht H, Joset P, Plecko B, Rauch A.

Eur J Hum Genet. 2019 Mar;27(3):408-421. doi: 10.1038/s41431-018-0299-8. Epub 2018 Dec 14.

PMID:
30552426
5.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogné B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH; University of Washington Center for Mendelian Genomics; DDD Study, Reis A, Sticht H, Zweier C.

Am J Hum Genet. 2018 Aug 2;103(2):305-316. doi: 10.1016/j.ajhg.2018.07.003. Epub 2018 Jul 26.

6.

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.

Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, Joset P, Niedrist D, Otte C, Oneda B, Boonsawat P, Azzarello-Burri S, Bartholdi D, Papik M, Zweier M, Haas C, Ekici AB, Baumer A, Boltshauser E, Steindl K, Nothnagel M, Schinzel A, Stoeckli ET, Rauch A.

Eur J Hum Genet. 2018 Feb;26(2):197-209. doi: 10.1038/s41431-017-0019-9. Epub 2018 Jan 10.

7.

Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders.

Oneda B, Asadollahi R, Azzarello-Burri S, Niedrist D, Baldinger R, Masood R, Schinzel A, Latal B, Jenni OG, Rauch A.

Mol Syndromol. 2017 Aug;8(5):266-271. doi: 10.1159/000477189. Epub 2017 Jun 13.

8.

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.

Gerth-Kahlert C, Tiwari A, Hanson JVM, Batmanabane V, Traboulsi E, Pennesi ME, Al-Qahtani AA, Lam BL, Heckenlively J, Zweifel SA, Vincent A, Fierz F, Barthelmes D, Branham K, Khan N, Bahr A, Baehr L, Magyar I, Koller S, Azzarello-Burri S, Niedrist D, Heon E, Berger W.

Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):3840-3850. doi: 10.1167/iovs.17-21597.

9.

Horizontal Gaze Palsy in Two Brothers with Compound Heterozygous ROBO3 Gene Mutations.

Hackenberg A, Boltshauser E, Gerth-Kahlert C, Stahr N, Azzarello-Burri S, Plecko B.

Neuropediatrics. 2017 Feb;48(1):57-58. doi: 10.1055/s-0036-1597610. Epub 2016 Dec 26. No abstract available.

PMID:
28024310
10.

The clinical significance of small copy number variants in neurodevelopmental disorders.

Asadollahi R, Oneda B, Joset P, Azzarello-Burri S, Bartholdi D, Steindl K, Vincent M, Cobilanschi J, Sticht H, Baldinger R, Reissmann R, Sudholt I, Thiel CT, Ekici AB, Reis A, Bijlsma EK, Andrieux J, Dieux A, FitzPatrick D, Ritter S, Baumer A, Latal B, Plecko B, Jenni OG, Rauch A.

J Med Genet. 2014 Oct;51(10):677-88. doi: 10.1136/jmedgenet-2014-102588. Epub 2014 Aug 8.

11.

De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females.

Popp B, Støve SI, Endele S, Myklebust LM, Hoyer J, Sticht H, Azzarello-Burri S, Rauch A, Arnesen T, Reis A.

Eur J Hum Genet. 2015 May;23(5):602-9. doi: 10.1038/ejhg.2014.150. Epub 2014 Aug 6.

12.

A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.

Bartholdi D, Stray-Pedersen A, Azzarello-Burri S, Kibaek M, Kirchhoff M, Oneda B, Rødningen O, Schmitt-Mechelke T, Rauch A, Kjaergaard S.

Am J Med Genet A. 2014 May;164A(5):1277-83. doi: 10.1002/ajmg.a.36439. Epub 2014 Mar 24.

13.

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

Asadollahi R, Oneda B, Sheth F, Azzarello-Burri S, Baldinger R, Joset P, Latal B, Knirsch W, Desai S, Baumer A, Houge G, Andrieux J, Rauch A.

Eur J Hum Genet. 2013 Oct;21(10):1100-4. doi: 10.1038/ejhg.2013.17. Epub 2013 Feb 13.

14.

In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome.

Wolff D, Endele S, Azzarello-Burri S, Hoyer J, Zweier M, Schanze I, Schmitt B, Rauch A, Reis A, Zweier C.

Mol Syndromol. 2012 Apr;2(6):237-244. Epub 2012 Mar 16.

15.

Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease.

Zingg-Schenk A, Caduff J, Azzarello-Burri S, Bergmann C, Drenth JP, Neuhaus TJ.

Pediatr Nephrol. 2012 Jul;27(7):1197-200. doi: 10.1007/s00467-012-2137-5. Epub 2012 Mar 14.

PMID:
22415584
16.

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.

Meienberg J, Rohrbach M, Neuenschwander S, Spanaus K, Giunta C, Alonso S, Arnold E, Henggeler C, Regenass S, Patrignani A, Azzarello-Burri S, Steiner B, Nygren AO, Carrel T, Steinmann B, Mátyás G.

Eur J Hum Genet. 2010 Dec;18(12):1315-21. doi: 10.1038/ejhg.2010.105. Epub 2010 Jul 21.

17.

Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.

Orrico A, Galli L, Faivre L, Clayton-Smith J, Azzarello-Burri SM, Hertz JM, Jacquemont S, Taurisano R, Arroyo Carrera I, Tarantino E, Devriendt K, Melis D, Thelle T, Meinhardt U, Sorrentino V.

Am J Med Genet A. 2010 Feb;152A(2):313-8. doi: 10.1002/ajmg.a.33199.

PMID:
20082460
18.

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.

Harmsen MB, Azzarello-Burri S, García González MM, Gillessen-Kaesbach G, Meinecke P, Müller D, Rauch A, Rossier E, Seemanova E, Spaich C, Steiner B, Wieczorek D, Zenker M, Kutsche K.

Eur J Hum Genet. 2009 Oct;17(10):1207-15. doi: 10.1038/ejhg.2009.40. Epub 2009 Mar 11.

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