2023

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
Aerden M, Denommé-Pichon A, Bonneau D, Bruel A, Delanne J, Gérard B, Mazel B, Philippe C, Pinson L, Prouteau C, Putoux A, Tran Mau-Them F, Viora-Dupont É, Vitobello A, Ziegler A, Piton A, Isidor B, Francannet C, Maillard P, Julia S, Philippe A, Schaefer E, Koene S, Ruivenkamp C, Hoffer M, Legius E, Theunis M, Keren B, Buratti J, Charles P, Courtin T, Misra-Isrie M, van Haelst M, Waisfisz Q, Wieczorek D, Schmetz A, Herget T, Kortüm F, Lisfeld J, Debray F, Bramswig N, Atallah I, Fodstad H, Jouret G, Almoguera B, Tahsin-Swafiri S, Santos-Simarro F, Palomares-Bralo M, López-González V, Kibaek M, Tørring P, Renieri A, Bruno L, Õunap K, Wojcik M, Hsieh T, Krawitz P, Van Esch H
EUR J HUM GENET. 2023;31(4):461-468.

A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a
Harms F, Weiss D, Lisfeld J, Alawi M, Kutsche K
NEUROGENETICS. 2023;24(3):171-180.

INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms
Hecher L, Harms F, Lisfeld J, Alawi M, Denecke J, Kutsche K
NEUROGENETICS. 2023;24(2):79-93.

2022

Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)
Holling T, Lisfeld J, Johannsen J, Matschke J, Song F, Altmeppen H, Kutsche K
HUM MUTAT. 2022;43(9):1224-1233.

2021

The acrocentric part of der(Y)t(Y;acro)(q12;p1?2) contains D15Z1 sequences in the majority of cases
Fuchs S, Lisfeld J, Kankel S, Person L, Liehr T
HUM GENOME VAR. 2021;8(1):.

Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis
Scholz T, Blohm M, Kortüm F, Bierhals T, Lessel D, van der Ven A, Lisfeld J, Herget T, Kloth K, Singer D, Perez A, Obi N, Johannsen J, Denecke J, Santer R, Kubisch C, Deindl P, Hempel M
NEONATOLOGY. 2021;118(4):454-461.

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
van der Ven A, Johannsen J, Kortüm F, Wagner M, Tsiakas K, Bierhals T, Lessel D, Herget T, Kloth K, Lisfeld J, Scholz T, Obi N, Wortmann S, Prokisch H, Kubisch C, Denecke J, Santer R, Hempel M
CLIN GENET. 2021;100(6):766-770.

Letzte Aktualisierung aus dem FIS: 26.04.2024 - 00:40 Uhr