Hinic, Snezana; Cybulski, Cezary; Van der Post, Rachel S.; Vos, Janet R.; Schuurs-Hoeijmakers, Janneke; Brugnoletti, Fulvia; Koene, Saskia; Vreede, Lilian; van Zelst-Stams, Wendy A. G.; Kets, C. Marleen; Haadsma, Maaike; Spruijt, Liesbeth; Wevers, Marijke R.; Evans, D. Gareth; Wimmer, Katharina; Schnaiter, Simon; Volk, Alexander E.; Mollring, Anna; de Putter, Robin; Soikkonen, Leila; Kahre, Tiina; Tooming, Mikk; de Jong, Mirjam M.; Vaz, Fatima; Mensenkamp, Arjen R.; Genuardi, Maurizio; Lubinski, Jan; Ligtenberg, Marjolijn; Hoogerbrugge, Nicoline; de Voer, Richarda M.

A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency

经过验证的高度敏感的微卫星不稳定性分析可准确识别在体质错配修复缺陷中携带双等位基因种系PMS2致病性变异的个体

CLINICAL CHEMISTRY

IF6.3

2024-03-261

Gonadal and gonadosomatic mosaicism in NF1: report of two families

JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT

IF3.8

2024-03-070

OAAI

Gonadal and gonadosomatic mosaicism in NF1: report of two families

JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT

IF3.8

2024-01-070

OAAI

Role of BRCA1 promotor methylation in homologous recombination deficiency (HRD) in high-grade ovarian cancer

ANNALS OF ONCOLOGY

IF65.4

2023-10-010

PRE

Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II

HUMAN GENETICS

IF3.6

2023-04-252

OAAI

Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency

GASTROENTEROLOGY

IF25.1

2023-04-0118

Gallon, Richard; Phelps, Rachel; Hayes, Christine; Brugieres, Laurence; Guerrini-Rousseau, Lea; Colas, Chrystelle; Muleris, Martine; Ryan, Neil A. J.; Evans, D. Gareth; Grice, Hannah; Jessop, Emily; Kunzemann-Martinez, Annabel; Marshall, Lilla; Schamschula, Esther; Oberhuber, Klaus; Azizi, Amedeo A.; Feldman, Hagit Baris; Beilken, Andreas; Brauer, Nina; Brozou, Triantafyllia; Dahan, Karin; Demirsoy, Ugur; Florkin, Benoit; Foulkes, William; Januszkiewicz-Lewandowska, Danuta; Jones, Kristi J.; Kratz, Christian P.; Lobitz, Stephan; Meade, Julia; Nathrath, Michaela; Pander, Hans-Jurgen; Perne, Claudia; Ragab, Iman; Ripperger, Tim; Rosenbaum, Thorsten; Rueda, Daniel; Sarosiek, Tomasz; Sehested, Astrid; Spier, Isabel; Suerink, Manon; Zimmermann, Stefanie-Yvonne; Zschocke, Johannes; Borthwick, Gillian M.; Wimmer, Katharina; Burn, John; Jackson, Michael S.; Santibanez-Koref, Mauro

High yield of surveillance in patients diagnosed with constitutional mismatch repair deficiency

JOURNAL OF MEDICAL GENETICS

IF3.7

2022-11-2110

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

更新2型神经纤维瘤病和神经鞘瘤病的诊断标准和术语: 国际共识推荐

GENETICS IN MEDICINE

IF6.2

2022-09-0190

Plotkin, Scott R.; Messiaen, Ludwine; Legius, Eric; Pancza, Patrice; Avery, Robert A.; Blakeley, Jaishri O.; Babovic-Vuksanovic, Dusica; Ferner, Rosalie; Fisher, Michael J.; Friedman, Jan M.; Giovannini, Marco; Gutmann, David H.; Hanemann, Clemens Oliver; Kalamarides, Michel; Kehrer-Sawatzki, Hildegard; Korf, Bruce R.; Mautner, Victor-Felix; MacCollin, Mia; Papi, Laura; Rauen, Katherine A.; Riccardi, Vincent; Schorry, Elizabeth; Smith, Miriam J.; Stemmer-Rachamimov, Anat; Stevenson, David A.; Ullrich, Nicole J.; Viskochil, David; Wimmer, Katharina; Yohay, Kaleb; Huson, Susan M.; Wolkenstein, Pierre; Evans, D. Gareth

Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency

HUMAN MUTATION

IF3.7

2021-12-0214

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

GENETICS IN MEDICINE

IF6.2

2021-08-01389

OAAI

Legius, Eric; Messiaen, Ludwine; Wolkenstein, Pierre; Pancza, Patrice; Avery, Robert A.; Berman, Yemima; Blakeley, Jaishri; Babovic-Vuksanovic, Dusica; Cunha, Karin Soares; Ferner, Rosalie; Fisher, Michael J.; Friedman, Jan M.; Gutmann, David H.; Kehrer-Sawatzki, Hildegard; Korf, Bruce R.; Mautner, Victor-Felix; Peltonen, Sirkku; Rauen, Katherine A.; Riccardi, Vincent; Schorry, Elizabeth; Stemmer-Rachamimov, Anat; Stevenson, David A.; Tadini, Gianluca; Ullrich, Nicole J.; Viskochil, David; Wimmer, Katharina; Yohay, Kaleb; Huson, Susan M.; Evans, D. Gareth; Plotkin, Scott R.

Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenicNF1/SPRED1variant negative children suspected of sporadic neurofibromatosis type 1

体质错配修复缺陷是怀疑散发性1型神经纤维瘤病的病原学nf1/spred1变异阴性儿童的0.41% 诊断

GENETICS IN MEDICINE

IF6.2

2020-12-0114

OAAI

AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG-dinucleotides

重新审视了AG排除区: 从经典AG二核苷酸之外的91个内含子NF1 3' 剪接位点突变中吸取的教训

HUMAN MUTATION

IF3.7

2020-03-1128

OAAI