Action-specific Publications

 

Action-specific Publications

2017

Soellner L, Begemann M, Mackay DJ, Grønskov K, Tümer Z, Maher ER, Temple IK, Monk D, Riccio A, Linglart A, Netchine I, Eggermann T.
Recent Advances in Imprinting Disorders.
Clin Genet. 2017 Jan;91(1):3-13. doi: 10.1111/cge.12827. Epub 2016 Aug 4.

Wakeling EL, Brioude F, Lokulo-Sodipe O, O’Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I.
Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Nat Rev Endocrinol. 2017 Feb;13(2):105-124. doi: 10.1038/nrendo.2016.138. Epub 2016 Sep 2.

Sachwitz J, Meyer R, Fekete G, Spranger S, Matulevičienė A, Kučinskas V, Bach A, Luczay A, Brüchle NO, Eggermann K, Zerres K, Elbracht M, Eggermann T.
NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features.
Clin Genet. 2017 Jan;91(1):73-78. doi: 10.111/cge.12803. Epub 2016 Jun 30.

2016

Sanchez-Delgado M, Riccio A, Eggermann T, Maher ER, Lapunzina P, Mackay D, Monk D.
Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains.
Trends Genet. 2016 Jul;32(7):444-55. doi: 10.1016/j.tig.2016.05.001. Epub 2016 May 24. Review.

Sachwitz J, Strobl-Wildemann G, Fekete G, Ambrozaitytė L, Kučinskas V, Soellner L, Begemann M, Eggermann T.
Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.
BMC Med Genet. 2016 Mar 11;17:20. doi: 10.1186/s12881-016-0280-8.

Eggermann K, Bliek J, Brioude F, Algar E, Buiting K, Russo S, Tümer Z, Monk D, Moore G, Antoniadi T, Macdonald F, Netchine I, Lombardi P, Soellner L, Begemann M, Prawitt D, Maher ER, Mannens M, Riccio A, Weksberg R, Lapunzina P, Grønskov K, Mackay DJ, Eggermann T.
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

Eur J Hum Genet. 2016 Oct;24(10):1377-87. doi: 10.1038/ejhg.2016.45

Eggermann T, Brioude F, Russo S, Lombardi MP, Bliek J, Maher ER, Larizza L, Prawitt D, Netchine I, Gonzales M, Grønskov K, Tümer Z, Monk D, Mannens M, Chrzanowska K, Walasek MK, Begemann M, Soellner L, Eggermann K, Tenorio J, Nevado J, Moore GE, Mackay DJ, Temple K, Gillessen-Kaesbach G, Ogata T, Weksberg R, Algar E, Lapunzina P.
Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counselling.
Eur J Hum Genet. 2016 Jun;24(6):784-93. doi: 10.1038/ejhg.2015.224

Rochtus A, Martin-Trujillo A, Izzi B, Elli F, Garin I, Linglart A, Mantovani G, Perez de Nanclares G, Thiele S, Decallonne B, Van Geet C, Monk D, Freson K.
Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.
Clin Epigenetics. 2016 Jan 26; 8:10.

2015

Eggermann T, Perez de Nanclares G, Maher ER, Temple IK, Tümer Z, MonkD, Mackay DJG, Gronskov K, Riccio A, Linglart A, Netchine I.
Imprinting Disorders: A group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.
Clinical Epigenetics, 2015 Nov 14;7:123. doi: 10.1186

Docherty LE, Rezwan FI, Poole RL, Turner CLS, Kivuva E, Maher ER,Smithson SF, Hamilton-Shield JP, Patalan M, Gizewska M,Peregud-Pogorzelski J, Beygo J, Buiting K, Horsthemke B, Soellner L,Begemann M, Eggermann T, Baple E, Mansour S, Temple IK, Mackay DJG.
Mutations in NLRP5 are associated with reproductive wastage and multi-locus Imprinting Disorders in humans.
Nat Commun. 2015 Sep 1;6:8086. doi: 10.1038

Mulchandani S, Bhoj EJ, Luo M, Powell-Hamilton N, Jenny K, Gripp KW, Elbracht M, Eggermann T, Turner CL, Temple IK, Mackay DJ, Dubbs H,Stevenson DA, Slattery L, Zackai EH, Spinner NB, Krantz ID, Conlin LK.
Maternal uniparental disomy of chromosome 20: a novel imprinting disorderof growth failure.
Genet Med. 2015 Aug 6. doi: 10.1038

Azzi S, Steunou V, Tost J, Rossignol S, Thibaud N, Neves CD, Le Jule M, Habib WA, Blaise A, Koudou Y, Busato F, Le Bouc Y, Netchine I.
Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome.
J Med Genet. 2015 Jan; 52(1):53-60

Azzi S, Salem J, Thibaud N, Chantot-Bastaraud S, Lieber E, Netchine I, Harbison MDA.
Prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome.
Med Genet. 2015 Jul;52(7)

Begemann M, Zirn B, Santen G, Wirthgen E, Soellner L, Büttel HM, Schweizer R, van Workum W, Binder G, Eggermann T.
Paternally Inherited IGF2 Mutation and Growth Restriction.
N Engl J Med. 2015 Jul 8. [Epub ahead of print]

Beygo J, Elbracht M, de Groot K, Begemann M, Kanber D, Platzer K, Gillessen-Kaesbach G, Vierzig A, Green A, Heller R, Buiting K, Eggermann T.
Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32.
Eur J Hum Genet 23(2):180-8.

Brioude F, Netchine I, Praz F, Le Jule M, Calmel C, Lacombe D, Edery P, Catala M, Odent S, Isidor B, Lyonnet S, Sigaudy S, Leheup B, Audebert-Bellanger S, Burglen L, Giuliano F, Alessandri JL, Cormier-Daire V, Laffargue F, Blesson S, Coupier I, Lespinasse J, Blanchet P, Boute O, Baumann C, Polak M, Doray B, Verloes A, Viot G, Le Bouc Y, Rossignol S.
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.
Hum Mutat. 2015 Sep;36(9)

Buiting K, Clayton-Smith J, Driscoll DJ, Gillessen-Kaesbach G, Kanber D, Schwinger E, Williams C, Horsthemke B.
Clinical utility gene card for: Angelman Syndrome.
Eur J Hum Genet 23(2)

Eggermann T, Netchine I, Temple IK, Tümer Z, Monk D, Mackay D, Grønskov K, Riccio A, Linglart A, Maher ER.
Congenital imprinting disorders: EUCID.net – a network to decipher their aetiology and to improve the diagnostic and clinical care.
Clin Epigenetics. 2015 Mar 14;7(1):23.

Mackay DJ, Eggermann T, Buiting K, Garin I, Netchine I, Linglart A, de Nanclares GP.
Multilocus methylation defects in imprinting disorders.
Biomol Concepts. 2015 Jan 12 [Epub ahead of print]

Soellner L, Monk D, Rezwan FI, Begemann M, Mackay D, Eggermann T.
Congenital imprinting disorders: Application of multilocus and high throughput methods to decipher new pathomechanisms and improve their management.
Mol Cell Probes. 2015 Jun 10. pii: S0890-8508(15)00042-0. doi: 10.1016/j.mcp.2015.05.003. [Epub ahead of print]

2014

Abi Habib W, Azzi S, Brioude F, Steunou V, Thibaud N, Das Neves C, Le Jule M, Chantot-Bastaraud S, Keren B, Lyonnet S, Michot C, Rossi M, Pasquier L, Gicquel C, Rossignol S, Le Bouc Y, Netchine I.
Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.
Hum Mol Genet. 2014 Nov 1;23(21):5763-73.

Azzi S, Blaise A, Steunou V, Harbison MD, Salem J, Brioude F, Rossignol S, Habib WA, Thibaud N, Neves CD, Jule ML, Brachet C, Heinrichs C, Bouc YL, Netchine I.
Complex tissue-specific epigenotypes in Russell-Silver Syndrome associated with 11p15 ICR1 hypomethylation.
Hum Mutat. 2014 Oct;35(10):1211-20.

Buiting K, Cassidy SB, Driscoll DJ, Gillessen-Kaesbach G, Kanber D, Tauber M, Schwinger E, Horsthemke B.
Clinical utility gene card for: Prader-Willi Syndrome.
Eur J Hum Genet. 2014 Sep;22(9). doi: 10.1038/ejhg.2014.66. Epub 2014 Apr 16

Court F, Camprubi C, Garcia CV, Guillaumet-Adkins A, Sparago A, Seruggia D, Sandoval J, Esteller M, Martin-Trujillo A, Riccio A, Montoliu L, Monk D.
The PEG13-DMR and brain-specific enhancers dictate imprinted expression within the 8q24 intellectual disability risk locus.
Epigenetics Chromatin. 2014 Mar 25;7(1):5. doi: 10.1186/1756-8935-7-5.

Eggermann T, Algar E, Lapunzina P, Mackay D, Maher ER, Mannens M, Netchine I, Prawitt D, Riccio A, Temple IK, Weksberg R.
Clinical utility gene card for: Beckwith-Wiedemann syndrome.
Eur J Hum Genet. 2014 Mar;22(3). doi: 10.1038/ejhg.2013.132. Epub 2013 Jul 3

Eggermann T, Binder G, Brioude F, Maher ER, Lapuzina P, Cubellis MV, Bergada I, Prawitt D, Begemann M.
CDKN1C mutations: two sides of the same coin.
Trends Mol Med. 2014 Nov;20(11):614-22.

Eggermann T, Heilsberg AK, Bens S, Siebert R, Beygo J, Buiting K, Begemann M, Soellner L.
Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing.
J Mol Med (Berl). 2014 Jul;92(7):769-77.

Mackay D, Bens S, Perez de Nanclares G, Siebert R, Temple IK.
Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related.
Eur J Hum Genet. 2014 Sep;22(9).

Sánchez Delgado M, Camprubí C, Tümer Z, Martínez F, Milà M, Monk D. Am J Med Genet B
Screening individuals with intellectual disability, autism and Tourette’s syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster.
Neuropsychiatr Genet. 2014 Sep;165B(6):472-8. doi: 10.1002/ajmg.b.32250. Epub 2014 Jul 1.

Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F,González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, Del Pozo A, Silla JC,Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium, Heath KE, Campos-Barros A, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL,Lapunzina P.
A New Overgrowth Syndrome is due to Mutations in RNF125. + supplemental
Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689.

Zilina O, Kahre T, Talvik I, Oiglane-Shlik E, Tillmann V, Ounap K.
Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome. 
Eur J Med Genet 57 (2014) 279-283.

2013

Brioude F, Oliver-Petit I, Blaise A, Praz F, Rossignol S, Le Jule M, Thibaud N, Faussat A-M, Tauber M, Le Bouc Y, Netchine I.
CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome.
J Med Genet. 2013 Dec;50(12):823-30. doi: 10.1136/jmedgenet-2013-101691. Epub 2013 Sep 24.

Deal CL, Tony M, Höybye C, Allen DB, Tauber M, Christiansen JS; 2011 Growth Hormone in Prader-Willi Syndrome Clinical Care Guidelines Workshop Participants.
Growth Hormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome.
J Clin Endocrinol Metab. 2013 Jun;98(6):E1072-87. doi: 10.1210/jc.2012-3888. Epub 2013 Mar 29.

 older

Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC, Tauber M; speakers contributors at the Second Expert Meeting of the Comprehensive Care of Patients with PWS.
Recommendations for the diagnosis and management of Prader-Willi syndrome.
J Clin Endocrinol Metab. 2008 Nov;93(11):4183-97