1. A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype. Issue 5 (17th February 2015) Authors: Li, Lili; Hamel, Nancy; Baker, Kristi; McGuffin, Michael J; Couillard, Martin; Gologan, Adrian; Marcus, Victoria A; Chodirker, Bernard; Chudley, Albert; Stefanovici, Camelia; Durandy, Anne; Hegele, Robert A; Feng, Bing-Jian; Goldgar, David E; Zhu, Jun; De Rosa, Marina; Gruber, Stephen B; Wimmer, ... Journal: Journal of medical genetics Issue: Volume 52:Issue 5(2015) Page Start: 348 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes. Issue 5 (6th March 2019) Authors: Gallon, Richard; Mühlegger, Barbara; Wenzel, Sören‐Sebastian; Sheth, Harsh; Hayes, Christine; Aretz, Stefan; Dahan, Karin; Foulkes, William; Kratz, Christian P.; Ripperger, Tim; Azizi, Amedeo A.; Baris Feldman, Hagit; Chong, Anne‐Laure; Demirsoy, Ugur; Florkin, Benoît; Imschweiler, Thomas; Janusz... Journal: Human mutation Issue: Volume 40:Issue 5(2019) Page Start: 649 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides. Issue 6 (11th March 2020) Authors: Wimmer, Katharina; Schamschula, Esther; Wernstedt, Annekatrin; Traunfellner, Pia; Amberger, Albert; Zschocke, Johannes; Kroisel, Peter; Chen, Yunjia; Callens, Tom; Messiaen, Ludwine Journal: Human mutation Issue: Volume 41:Issue 6(2020) Page Start: 1145 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Issue 1 (26th October 2019) Authors: Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic‐Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Cl... Journal: Human mutation Issue: Volume 41:Issue 1(2020) Page Start: 299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy. Issue 2 (10th November 2018) Authors: Suerink, Manon; Ripperger, Tim; Messiaen, Ludwine; Menko, Fred H; Bourdeaut, Franck; Colas, Chrystelle; Jongmans, Marjolijn; Goldberg, Yael; Nielsen, Maartje; Muleris, Martine; van Kouwen, Mariëtte; Slavc, Irene; Kratz, Christian; Vasen, Hans F; Brugiѐres, Laurence; Legius, Eric; Wimmer, Katharina Journal: Journal of medical genetics Issue: Volume 56:Issue 2(2019) Page Start: 53 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity. Issue 3 (6th November 2015) Authors: Baris, Hagit N.; Barnes‐Kedar, Inbal; Toledano, Helen; Halpern, Marisa; Hershkovitz, Dov; Lossos, Alexander; Lerer, Israela; Peretz, Tamar; Kariv, Revital; Cohen, Shlomi; Half, Elizabeth E.; Magal, Nurit; Drasinover, Valerie; Wimmer, Katharina; Goldberg, Yael; Bercovich, Dani; Levi, Zohar Journal: Pediatric blood & cancer Issue: Volume 63:Issue 3(2016) Page Start: 418 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Constitutional mismatch repair deficiency–associated brain tumors: report from the European C4CMMRD consortium. Issue 1 (2nd December 2019) Authors: Guerrini-Rousseau, Léa; Varlet, Pascale; Colas, Chrystelle; Andreiuolo, Felipe; Bourdeaut, Franck; Dahan, Karin; Devalck, Christine; Faure-Conter, Cécile; Genuardi, Maurizio; Goldberg, Yael; Kuhlen, Michaela; Moalla, Salma; Opocher, Enrico; Perez-Alonso, Vanessa; Sehested, Astrid; Slavc, Irene; U... Journal: Neuro-oncology advances Issue: Volume 1:Issue 1(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Constitutional or biallelic? Settling on a name for a recessively inherited cancer susceptibility syndrome. Issue 4 (3rd June 2015) Authors: Wimmer, Katharina; Brugières, Laurence; Duval, Alex; Muleris, Martine; Kratz, Christian P; Vasen, Hans F A Journal: Journal of medical genetics Issue: Volume 53:Issue 4(2016) Page Start: 226 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency. Issue 1 (2nd December 2021) Authors: Sehested, Astrid; Meade, Julia; Scheie, David; Østrup, Olga; Bertelsen, Birgitte; Misiakou, Maria Anna; Sarosiek, Tomasz; Kessler, Elena; Melchior, Linea C.; Munch‐Petersen, Helga Fibiger; Pai, Reetesh K.; Schmuth, Matthias; Gottschling, Hendrik; Zschocke, Johannes; Gallon, Richard; Wimmer, Katha... Journal: Human mutation Issue: Volume 43:Issue 1(2022) Page Start: 85 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Detection of constitutional mismatch repair deficiency in children and adolescents with acute lymphoblastic leukemia. Issue 1 (2nd January 2023) Authors: Gallon, Richard; Phelps, Rachel; Betts, Leigh; Hayes, Christine; Masic, Dino; Irving, Julie A. E.; McAnulty, Ciaron; Saha, Vaskar; Vora, Ajay; Wimmer, Katharina; Motwani, Jayashree; Macartney, Christine; Burn, John; Jackson, Michael S.; Moorman, Anthony V.; Santibanez-Koref, Mauro Journal: Leukemia & lymphoma Issue: Volume 64:Issue 1(2023) Page Start: 217 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗