2024

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
Kalm T, Schob C, Völler H, Gardeitchik T, Gilissen C, Pfundt R, Klöckner C, Platzer K, Klabunde-Cherwon A, Ries M, Syrbe S, Beccaria F, Madia F, Scala M, Zara F, Hofstede F, Simon M, van Jaarsveld R, Oegema R, van Gassen K, Holwerda S, Barakat T, Bouman A, van Slegtenhorst M, Álvarez S, Fernández-Jaén A, Porta J, Accogli A, Mancardi M, Striano P, Iacomino M, Chae J, Jang S, Kim S, Chitayat D, Mercimek-Andrews S, Depienne C, Kampmeier A, Kuechler A, Surowy H, Bertini E, Radio F, Mancini C, Pizzi S, Tartaglia M, Gauthier L, Genevieve D, Tharreau M, Azoulay N, Zaks-Hoffer G, Gilad N, Orenstein N, Bernard G, Thiffault I, Denecke J, Herget T, Kortüm F, Kubisch C, Bähring R, Kindler S
AM J HUM GENET. 2024;111(6):1206-1221.

A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip-palate cleft: A case report and expansion of the phenotype
Papingi D, Bierhals T, Volk A, Kutsche M, Paul K, Herget T
AM J MED GENET A. 2024;194(5):e63515.

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
Rinaldi B, Bayat A, Zachariassen L, Sun J, Ge Y, Zhao D, Bonde K, Madsen L, Awad I, Bagiran D, Sbeih A, Shah S, El-Sayed S, Lyngby S, Pedersen M, Stenum-Berg C, Walker L, Krey I, Delahaye-Duriez A, Emrick L, Sully K, Murali C, Burrage L, Plaud Gonzalez J, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi M, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch S, Au P, Ayala Valenzuela F, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li W, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller R, Tümer Z, Musgaard M, Gerard B, Lemke J, Shi Y, Kristensen A
BRAIN. 2024;147(5):1837-1855.

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh T, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel H, Schwartzmann S, Mensah M, Pantel J, Holtgrewe M, Bösch A, Weiß C, Weinhold N, Suter A, Stoltenburg C, Neugebauer J, Kallinich T, Kaindl A, Holzhauer S, Bührer C, Bufler P, Kornak U, Ott C, Schülke M, Nguyen H, Hoffjan S, Grasemann C, Rothoeft T, Brinkmann F, Matar N, Sivalingam S, Perne C, Mangold E, Kreiss M, Cremer K, Betz R, Mücke M, Grigull L, Klockgether T, Spier I, Heimbach A, Bender T, Brand F, Stieber C, Morawiec A, Karakostas P, Schäfer V, Bernsen S, Weydt P, Castro-Gomez S, Aziz A, Grobe-Einsler M, Kimmich O, Kobeleva X, Önder D, Lesmann H, Kumar S, Tacik P, Basin M, Incardona P, Lee-Kirsch M, Berner R, Schuetz C, Körholz J, Kretschmer T, Di Donato N, Schröck E, Heinen A, Reuner U, Hanßke A, Kaiser F, Manka E, Munteanu M, Kuechler A, Cordula K, Hirtz R, Schlapakow E, Schlein C, Lisfeld J, Kubisch C, Herget T, Hempel M, Weiler-Normann C, Ullrich K, Schramm C, Rudolph C, Rillig F, Groffmann M, Muntau A, Tibelius A, Schwaibold E, Schaaf C, Zawada M, Kaufmann L, Hinderhofer K, Okun P, Kotzaeridou U, Hoffmann G, Choukair D, Bettendorf M, Spielmann M, Ripke A, Pauly M, Münchau A, Lohmann K, Hüning I, Hanker B, Bäumer T, Herzog R, Hellenbroich Y, Westphal D, Strom T, Kovacs R, Riedhammer K, Mayerhanser K, Graf E, Brugger M, Hoefele J, Oexle K, Mirza-Schreiber N, Berutti R, Schatz U, Krenn M, Makowski C, Weigand H, Schröder S, Rohlfs M, Vill K, Hauck F, Borggraefe I, Müller-Felber W, Kurth I, Elbracht M, Knopp C, Begemann M, Kraft F, Lemke J, Hentschel J, Platzer K, Strehlow V, Abou Jamra R, Kehrer M, Demidov G, Beck-Wödl S, Graessner H, Sturm M, Zeltner L, Schöls L, Magg J, Bevot A, Kehrer C, Kaiser N, Turro E, Horn D, Grüters-Kieslich A, Klein C, Mundlos S, Nöthen M, Riess O, Meitinger T, Krude H, Krawitz P, Haack T, Ehmke N, Wagner M
NAT GENET. 2024;56(8):1644-1653.

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.

TMCO3, a Putative K+ :Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans
Holling T, Brylka L, Scholz T, Bierhals T, Herget T, Meinecke P, Schinke T, Oheim R, Kutsche K
J BONE MINER RES. 2023;38(9):1334-1349.

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders
Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff J, Koopmans M, Herget T, Hempel M, Kortüm F, Heron D, Mignot C, Keren B, Brooks S, Botti C, Ben-Zeev B, Argilli E, Sherr E, Gowda V, Srinivasan V, Bakhtiari S, Kruer M, Salih M, Kuechler A, Muller E, Blocker K, Kuismin O, Park K, Kochhar A, Brown K, Ramanathan S, Clark R, Elgizouli M, Melikishvili G, Tabatadze N, Stark Z, Mirzaa G, Ong J, Grasshoff U, Bevot A, von Wintzingerode L, Jamra R, Hennig Y, Goldenberg P, Al Alam C, Charif M, Boulouiz R, Bellaoui M, Amrani R, Al Mutairi F, Tamim A, Abdulwahab F, Alkuraya F, Khouj E, Alvi J, Sultan T, Hashemi N, Karimiani E, Ashrafzadeh F, Imannezhad S, Efthymiou S, Houlden H, Sticht H, Zweier C
GENET MED. 2023;25(8):100885.

Psychological distress of adult patients consulting a center for rare and undiagnosed diseases: a cross-sectional study
Mund M, Uhlenbusch N, Rillig F, Weiler-Normann C, Herget T, Kubisch C, Löwe B, Schramm C
ORPHANET J RARE DIS. 2023;18(1):82.

2022

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
Christensen M, Levy A, Mohammadi N, Niceta M, Kaiyrzhanov R, Dentici M, Al Alam C, Alesi V, Benoit V, Bhatia K, Bierhals T, Boßelmann C, Buratti J, Callewaert B, Ceulemans B, Charles P, De Wachter M, Dehghani M, D'haenens E, Doco-Fenzy M, Geßner M, Gobert C, Guliyeva U, Haack T, Hammer T, Heinrich T, Hempel M, Herget T, Hoffmann U, Horvath J, Houlden H, Keren B, Kresge C, Kumps C, Lederer D, Lermine A, Magrinelli F, Maroofian R, Vahidi Mehrjardi M, Moudi M, Müller A, Oostra A, Pletcher B, Ros-Pardo D, Samarasekera S, Tartaglia M, Van Schil K, Vogt J, Wassmer E, Winkelmann J, Zaki M, Zech M, Lerche H, Radio F, Gomez-Puertas P, Møller R, Tümer Z
CLIN GENET. 2022;102(2):98-109.

Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome
van der Laan L, Rooney K, Alders M, Relator R, McConkey H, Kerkhof J, Levy M, Lauffer P, Aerden M, Theunis M, Legius E, Tedder M, Vissers L, Koene S, Ruivenkamp C, Hoffer M, Wieczorek D, Bramswig N, Herget T, González V, Santos-Simarro F, Tørring P, Denomme-Pichon A, Isidor B, Keren B, Julia S, Schaefer E, Francannet C, Maillard P, Misra-Isrie M, Van Esch H, Mannens M, Sadikovic B, van Haelst M, Henneman P
INT J MOL SCI. 2022;23(22):.

2021

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, Alhaddad B, Asadollahi R, Becker J, Bierhals T, Brown K, Bruel A, Brunet T, Carneiro M, Cremer K, Day R, Denommé-Pichon A, Dyment D, Engels H, Fisher R, Goh E, Hajianpour M, Haertel L, Hauer N, Hempel M, Herget T, Johannsen J, Kraus C, Le Guyader G, Lesca G, Mau-Them F, McDermott J, McWalter K, Meyer P, Õunap K, Popp B, Reimand T, Riedhammer K, Russo M, Sadleir L, Saenz M, Schiff M, Schuler E, Syrbe S, Van der Ven A, Verloes A, Willems M, Zweier C, Steindl K, Zweier M, Rauch A
GENET MED. 2021;23(3):543-554.

Congenital disorders of glycosylation with defective fucosylation
Hüllen A, Falkenstein K, Weigel C, Huidekoper H, Naumann-Bartsch N, Spenger J, Feichtinger R, Schaefers J, Frenz S, Kotlarz D, Momen T, Khoshnevisan R, Riedhammer K, Santer R, Herget T, Rennings A, Lefeber D, Mayr J, Thiel C, Wortmann S
J INHERIT METAB DIS. 2021;44(6):1441-1452.

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.

2020

Aneurysm of the ascending aorta and dilation of the pulmonary trunk in a patient with homocysteinemia
Rillig F, Weiler-Normann C, Herget T, Schramm C
VASA. 2020;49(2):151-152.

Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients
Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church J, Crushell E, Dalgıç B, Das A, Dick A, Dikow N, Dionisi-Vici C, Distelmaier F, Bozbulut N, Feillet F, Gonzales E, Hadzic N, Hauck F, Hegarty R, Hempel M, Herget T, Klein C, Konstantopoulou V, Kopajtich R, Kuster A, Laass M, Lainka E, Larson-Nath C, Leibner A, Lurz E, Mayr J, McKiernan P, Mention K, Moog U, Mungan N, Riedhammer K, Santer R, Palafoll I, Vockley J, Westphal D, Wiedemann A, Wortmann S, Diwan G, Russell R, Prokisch H, Garbade S, Kölker S, Hoffmann G, Lenz D
GENET MED. 2020;22(3):610-621.

Nine newly identified individuals refine the phenotype associated with MYT1L mutations
Windheuser I, Becker J, Cremer K, Hundertmark H, Yates L, Mangold E, Peters S, Degenhardt F, Ludwig K, Zink A, Lessel D, Bierhals T, Herget T, Johannsen J, Denecke J, Wohlleber E, Strom T, Wieczorek D, Bertoli M, Colombo R, Hempel M, Engels H
AM J MED GENET A. 2020;182(5):1021-1031.

Letzte Aktualisierung aus dem FIS: 23.12.2024 - 23:34 Uhr