2024

Late diagnosis of Marfan syndrome is associated with unplanned aortic surgery and cardiovascular death
Claus J, Schoof L, Mir T, Kammal A, Schön G, Kutsche K, Behrendt C, Kallenbach K, Kölbel T, Kubisch C, Demal T, Petersen J, Brickwedel J, Hübler M, Detter C, Kirchhof P, Debus E, Rybczynski M, von Kodolitsch Y
J THORAC CARDIOV SUR. 2024 [Epub ahead of print].

Germline mutations in a G protein identify signaling cross-talk in T cells
Ham H, Jing H, Lamborn I, Kober M, Koval A, Berchiche Y, Anderson D, Druey K, Mandl J, Isidor B, Ferreira C, Freeman A, Ganesan S, Karsak M, Mustillo P, Teo J, Zolkipli-Cunningham Z, Chatron N, Lecoquierre F, Oler A, Schmid J, Kuhns D, Xu X, Hauck F, Al-Herz W, Wagner M, Terhal P, Muurinen M, Barlogis V, Cruz P, Danielson J, Stewart H, Loid P, Rading S, Keren B, Pfundt R, Zarember K, Vill K, Potocki L, Olivier K, Lesca G, Faivre L, Wong M, Puel A, Chou J, Tusseau M, Moutsopoulos N, Matthews H, Simons C, Taft R, Soldatos A, Masle-Farquhar E, Pittaluga S, Brink R, Fink D, Kong H, Kabat J, Kim W, Bierhals T, Meguro K, Hsu A, Gu J, Stoddard J, Banos-Pinero B, Slack M, Trivellin G, Mazel B, Soomann M, Li S, Watts V, Stratakis C, Rodriguez-Quevedo M, Bruel A, Lipsanen-Nyman M, Saultier P, Jain R, Lehalle D, Torres D, Sullivan K, Barbarot S, Neu A, Duffourd Y, Similuk M, McWalter K, Blanc P, Bézieau S, Jin T, Geha R, Casanova J, Makitie O, Kubisch C, Edery P, Christodoulou J, Germain R, Goodnow C, Sakmar T, Billadeau D, Küry S, Katanaev V, Zhang Y, Lenardo M, Su H
SCIENCE. 2024;385(6715):eadd8947.

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.

Multimodal characterization of dilated cardiomyopathy: Geno- And Phenotyping of PrImary Cardiomyopathy (GrAPHIC)
Keil L, Berisha F, Ritter S, Skibowski J, Subramanian H, Nikolaev V, Kubisch C, Woitschach R, Fabritz L, Twerenbold R, Blankenberg S, Weidemann S, Zeller T, Kirchhof P, Reichart D, Magnussen C
ESC HEART FAIL. 2024;11(1):541-549.

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.

Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use
Worthmann A, Ridder J, Piel S, Evangelakos I, Musfeldt M, Voß H, O'Farrell M, Fischer A, Adak S, Sundd M, Siffeti H, Haumann F, Kloth K, Bierhals T, Heine M, Pertzborn P, Pauly M, Scholz J, Kundu S, Fuh M, Neu A, Tödter K, Hempel M, Knippschild U, Semenkovich C, Schlüter H, Heeren J, Scheja L, Kubisch C, Schlein C
NAT COMMUN. 2024;15(1):45.

2023

A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2
Chepurwar S, von Loh S, Wigger D, Neef J, Frommolt P, Beutner D, Lang-Roth R, Kubisch C, Strenzke N, Volk A
HUM MOL GENET. 2023;32(7):1083-1089.

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.

Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension
Postma A, Rapp C, Knoflach K, Volk A, Lemke J, Ackermann M, Regamey N, Latzin P, Celant L, Jansen S, Bogaard H, Ilgun A, Alders M, van Spaendonck-Zwarts K, Jonigk D, Klein C, Gräf S, Kubisch C, Houweling A, Griese M
Genetics in medicine open. 2023;1(1):100811.

A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities
Saadi A, Navarro C, Ozalp O, Lourenco C, Fayek R, Da Silva N, Chaouch A, Benahmed M, Kubisch C, Munnich A, Lévy N, Roll P, Pacha L, Chaouch M, Lessel D, De Sandre-Giovannoli A
AM J MED GENET A. 2023;191(9):2274-2289.

AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia
Terhal P, Venhuizen A, Lessel D, Tan W, Alswaid A, Grün R, Alzaidan H, von Kroge S, Ragab N, Hempel M, Kubisch C, Novais E, Cristobal A, Tripolszki K, Bauer P, Fischer-Zirnsak B, Nievelstein R, van Dijk A, Nikkels P, Oheim R, Hahn H, Bertoli-Avella A, Maurice M, Kornak U
AM J HUM GENET. 2023;110(9):1470-1481.

AATD as a genetic risk factor for aneurysmal disease - Authors' reply
von Kodolitsch Y, Kubisch C, Carrel T
LANCET. 2023;402(10413):1626.

Cluster headache genome-wide association study and meta-analysis identifies eight loci and implicates smoking as causal risk factor
Winsvold B, Harder A, Ran C, Chalmer M, Dalmasso M, Ferkingstad E, Tripathi K, Bacchelli E, Børte S, Fourier C, Petersen A, Vijfhuizen L, Magnusson S, O'Connor E, Bjornsdottir G, Häppölä P, Wang Y, Callesen I, Kelderman T, Gallardo V, de Boer I, Jennysdotter Olofsgård F, Heinze K, Lund N, Thomas L, Hsu C, Pirinen M, Hautakangas H, Ribasés M, Guerzoni S, Sivakumar P, Yip J, Heinze A, Küçükali F, Ostrowski S, Pedersen O, Kristoffersen E, Martinsen A, Artigas M, Lagrata S, Cainazzo M, Adebimpe J, Quinn O, Göbel C, Cirkel A, Volk A, Heilmann-Heimbach S, Skogholt A, Gabrielsen M, Wilbrink L, Danno D, Mehta D, Guðbjartsson D, Rosendaal F, Willems van Dijk K, Fronczek R, Wagner M, Scherer M, Göbel H, Sleegers K, Sveinsson O, Pani L, Zoli M, Ramos-Quiroga J, Dardiotis E, Steinberg A, Riedel-Heller S, Sjöstrand C, Thorgeirsson T, Stefansson H, Southgate L, Trembath R, Vandrovcova J, Noordam R, Paemeleire K, Stefansson K, Fann C, Waldenlind E, Tronvik E, Jensen R, Chen S, Houlden H, Terwindt G, Kubisch C, Maestrini E, Vikelis M, Pozo-Rosich P, Belin A, Matharu M, van den Maagdenberg A, Hansen T, Ramirez A, Zwart J
ANN NEUROL. 2023;94(4):713-726.

2022

Expanding the clinical spectrum of COL2A1 related disorders by a MASS like phenotype
Demal T, Scholz T, Schüler H, Olfe J, Fröhlich A, Speth F, von Kodolitsch Y, Mir T, Reichenspurner H, Kubisch C, Hempel M, Rosenberger G
SCI REP-UK. 2022;12(1):4489.

LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death
Keil L, Berisha F, Knappe D, Kubisch C, Shoukier M, Kirchhof P, Fabritz L, Hellenbroich Y, Woitschach R, Magnussen C
GENES-BASEL. 2022;13(2):.

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
Kreienkamp H, Wagner M, Weigand H, McConkie-Rossell A, McDonald M, Keren B, Mignot C, Gauthier J, Soucy J, Michaud J, Dumas M, Smith R, Löbel U, Hempel M, Kubisch C, Denecke J, Campeau P, Bain J, Lessel D
HUM GENET. 2022;141(2):257-272.

A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies
Lessel D, Rading K, Campbell S, Thiele H, Altmüller J, Gordon L, Kubisch C
AM J MED GENET A. 2022;188(1):216-223.

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies
Reuter M, Zech M, Hempel M, Altmüller J, Heung T, Pölsler L, Santer R, Thiele H, Trost B, Kubisch C, Scherer S, Rudnik-Schöneborn S, Bassett A, Lessel D
EUR J HUM GENET. 2022;30(5):611-618.

2021

Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia
Jandl N, Schmidt T, Rolvien T, Stürznickel J, Chrysostomou K, von Vopelius E, Volk A, Schinke T, Kubisch C, Amling M, Barvencik F
CALCIFIED TISSUE INT. 2021;108(3):288-301.

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants
Kloth K, Lozic B, Tagoe J, Hoffer M, Van der Ven A, Thiele H, Altmüller J, Kubisch C, Au P, Denecke J, Bijlsma E, Lessel D
NEUROGENETICS. 2021;22(4):263-269.

Xenotropic and polytropic retrovirus receptor 1 regulates procoagulant platelet polyphosphate
Mailer R, Allende M, Heestermans M, Schweizer M, Deppermann C, Frye M, Pula G, Odeberg J, Gelderblom M, Rose-John S, Sickmann A, Blankenberg S, Huber T, Kubisch C, Maas C, Gambaryan S, Firsov D, Stavrou E, Butler L, Renné T
BLOOD. 2021;137(10):1392-1405.

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Mannucci I, Dang N, Huber H, Murry J, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke P, Berland S, Bierhals T, Bilan F, Bindoff L, Braathen G, Busk Ø, Chenbhanich J, Denecke J, Escobar L, Estes C, Fleischer J, Groepper D, Haaxma C, Hempel M, Holler-Managan Y, Houge G, Jackson A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad U, Brenman L, Martinez-Agosto J, Might M, Miller D, Minks K, Moghaddam B, Nava C, Nelson S, Parant J, Prescott T, Rajabi F, Randrianaivo H, Reiter S, Schuurs-Hoeijmakers J, Shieh P, Slavotinek A, Smithson S, Stegmann A, Tomczak K, Tveten K, Wang J, Whitlock J, Zweier C, McWalter K, Juusola J, Quintero-Rivera F, Fischer U, Yeo N, Kreienkamp H, Lessel D
GENOME MED. 2021;13(1):90.

Identification of 22 susceptibility loci associated with testicular germ cell tumors
Pluta J, Pyle L, Nead K, Wilf R, Li M, Mitra N, Weathers B, D'Andrea K, Almstrup K, Anson-Cartwright L, Benitez J, Brown C, Chanock S, Chen C, Cortessis V, Ferlin A, Foresta C, Gamulin M, Gietema J, Grasso C, Greene M, Grotmol T, Hamilton R, Haugen T, Hauser R, Hildebrandt M, Johnson M, Karlsson R, Kiemeney L, Lessel D, Lothe R, Loud J, Loveday C, Martin-Gimeno P, Meijer C, Nsengimana J, Quinn D, Rafnar T, Ramdas S, Richiardi L, Skotheim R, Stefansson K, Turnbull C, Vaughn D, Wiklund F, Wu X, Yang D, Zheng T, Wells A, Grant S, Rajpert-De Meyts E, Schwartz S, Bishop D, McGlynn K, Kanetsky P, Nathanson K
NAT COMMUN. 2021;12(1):4487.

Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia
Schob C, Hempel M, Brozkova D, Jiang H, Kim S, Batzir N, Orenstein N, Bierhals T, Johannsen J, Meszarosova A, Chae J, Seeman P, Woidy M, Fang F, Kubisch C, Kindler S, Denecke J
ANN NEUROL. 2021;90(5):738-750.

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.

Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism
Volk A, Hedergott A, Preising M, Rading S, Fricke J, Herkenrath P, Nürnberg P, Altmüller J, von Ameln S, Lorenz B, Neugebauer A, Karsak M, Kubisch C
HUM GENET. 2021;140(8):1157-1168.

2020

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
Elouej S, Harhouri K, Le Mao M, Baujat G, Nampoothiri S, Kayserili H, Menabawy N, Selim L, Paneque A, Kubisch C, Lessel D, Rubinsztajn R, Charar C, Bartoli C, Airault C, Deleuze J, Rötig A, Bauer P, Pereira C, Loh A, Escande-Beillard N, Muchir A, Martino L, Gruenbaum Y, Lee S, Manivet P, Lenaers G, Reversade B, Lévy N, De Sandre-Giovannoli A
NAT COMMUN. 2020;11(1):4589.

Rationale and Design of the Hamburg City Health Study
Jagodzinski A, Johansen C, Koch-Gromus U, Aarabi G, Adam G, Anders S, Augustin M, der Kellen R, Beikler T, Behrendt C, Betz C, Bokemeyer C, Borof K, Briken P, Busch C, Büchel C, Brassen S, Debus E, Eggers L, Fiehler J, Gallinat J, Gellißen S, Gerloff C, Girdauskas E, Gosau M, Graefen M, Härter M, Harth V, Heidemann C, Heydecke G, Huber T, Hussein Y, Kampf M, von dem Knesebeck O, Konnopka A, König H, Kromer R, Kubisch C, Kühn S, Loges S, Löwe B, Lund G, Meyer C, Nagel L, Nienhaus A, Pantel K, Petersen E, Püschel K, Reichenspurner H, Sauter G, Scherer M, Scherschel K, Schiffner U, Schnabel R, Schulz H, Smeets R, Sokalskis V, Spitzer M, Terschüren C, Thederan I, Thoma T, Thomalla G, Waschki B, Wegscheider K, Wenzel J, Wiese S, Zyriax B, Zeller T, Blankenberg S
EUR J EPIDEMIOL. 2020;35(2):169-181.

A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2
Karsak M, Glebov K, Scheffold M, Bajaj T, Kawalia A, Karaca I, Rading S, Kornhuber J, Peters O, Diez-Fairen M, Frölich L, Hüll M, Wiltfang J, Scherer M, Riedel-Heller S, Schneider A, Heneka M, Fliessbach K, Sharaf A, Thiele H, Lennarz M, Jessen F, Maier W, Kubisch C, Ignatova Z, Nürnberg P, Pastor P, Walter J, Ramirez A
HUM MUTAT. 2020;41(1):169-181.

Germline AGO2 mutations impair RNA interference and human neurological development
Lessel D, Zeitler D, Reijnders M, Kazantsev A, Hassani Nia F, Bartholomäus A, Martens V, Bruckmann A, Graus V, McConkie-Rosell A, McDonald M, Lozic B, Tan E, Gerkes E, Johannsen J, Denecke J, Telegrafi A, Zonneveld-Huijssoon E, Lemmink H, Cham B, Kovacevic T, Ramsdell L, Foss K, Le Duc D, Mitter D, Syrbe S, Merkenschlager A, Sinnema M, Panis B, Lazier J, Osmond M, Hartley T, Mortreux J, Busa T, Missirian C, Prasun P, Lüttgen S, Mannucci I, Lessel I, Schob C, Kindler S, Pappas J, Rabin R, Willemsen M, Gardeitchik T, Löhner K, Rump P, Dias K, Evans C, Andrews P, Roscioli T, Brunner H, Chijiwa C, Lewis M, Jamra R, Dyment D, Boycott K, Stegmann A, Kubisch C, Tan E, Mirzaa G, McWalter K, Kleefstra T, Pfundt R, Ignatova Z, Meister G, Kreienkamp H
NAT COMMUN. 2020;11(1):5797.

Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies
Lessel I, Chen M, Lüttgen S, Arndt F, Fuchs S, Meien S, Thiele H, Jones J, Shaw B, Crossman D, Nürnberg P, Korf B, Kubisch C, Lessel D
HUM GENET. 2020;139(4):483-498.

2019

Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell Tumors
AlDubayan S, Pyle L, Gamulin M, Kulis T, Moore N, Taylor-Weiner A, Hamid A, Reardon B, Wubbenhorst B, Godse R, Vaughn D, Jacobs L, Meien S, Grgic M, Kastelan Z, Markt S, Damrauer S, Rader D, Kember R, Loud J, Kanetsky P, Greene M, Sweeney C, Kubisch C, Nathanson K, Van Allen E, Stewart D, Lessel D
JAMA ONCOL. 2019;5(4):514-522.

Cav2.3 channels contribute to dopaminergic neuron loss in a model of Parkinson's disease
Benkert J, Hess S, Roy S, Beccano-Kelly D, Wiederspohn N, Duda J, Simons C, Patil K, Gaifullina A, Mannal N, Dragicevic E, Spaich D, Müller S, Nemeth J, Hollmann H, Deuter N, Mousba Y, Kubisch C, Poetschke C, Striessnig J, Pongs O, Schneider T, Wade-Martins R, Patel S, Parlato R, Frank T, Kloppenburg P, Liss B
NAT COMMUN. 2019;10(1):5094.

Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations
Brenner D, Rosenbohm A, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, Grosskreutz J, Weydt P, Ruf W, Neuwirth C, Weber M, Pinto S, Claeys K, Schrank B, Jordan B, Knehr A, Günther K, Hübers A, Zeller D, Kubisch C, Jablonka S, Sendtner M, Klopstock T, de Carvalho M, Sperfeld A, Borck G, Volk A, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer K, Freischmidt A, Meitinger T, Ludolph A, Andersen P, Weishaupt J
BRAIN. 2019;142(12):e67.

Fatal Myelotoxicity Following Palliative Chemotherapy With Cisplatin and Gemcitabine in a Patient With Stage IV Cholangiocarcinoma Linked to Post Mortem Diagnosis of Fanconi Anemia
Engel N, Schliffke S, Schüller U, Frenzel C, Bokemeyer C, Kubisch C, Lessel D
FRONT ONCOL. 2019;9:420.

Hereditary Syndromes with Signs of Premature Aging
Lessel D, Kubisch C
DTSCH ARZTEBL INT. 2019;116(29-30):489-496.

Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness
Mahler E, Johannsen J, Tsiakas K, Kloth K, Lüttgen S, Mühlhausen C, Alhaddad B, Haack T, Strom T, Kortüm F, Meitinger T, Muntau A, Santer R, Kubisch C, Lessel D, Denecke J, Hempel M
DTSCH ARZTEBL INT. 2019;116(12):197-204.

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping
Marbach F, Rustad C, Riess A, Đukić D, Hsieh T, Jobani I, Prescott T, Bevot A, Erger F, Houge G, Redfors M, Altmueller J, Stokowy T, Gilissen C, Kubisch C, Scarano E, Mazzanti L, Fiskerstrand T, Krawitz P, Lessel D, Netzer C
AM J HUM GENET. 2019;104(4):749-757.

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients
Renner S, Schüler H, Alawi M, Kolbe V, Rybczynski M, Woitschach R, Sheikhzadeh S, Stark V, Olfe J, Roser E, Seggewies F, Mahlmann A, Hempel M, Hartmann M, Hillebrand M, Wieczorek D, Volk A, Kloth K, Koch-Hogrebe M, Abou Jamra R, Mitter D, Altmüller J, Wey-Fabrizius A, Petersen C, Rau I, Borck G, Kubisch C, Mir T, von Kodolitsch Y, Kutsche K, Rosenberger G
GENET MED. 2019;21(8):1832-1841.

Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer
Weber-Lassalle N, Borde J, Weber-Lassalle K, Horváth J, Niederacher D, Arnold N, Kaulfuß S, Ernst C, Paul V, Honisch E, Klaschik K, Volk A, Kubisch C, Rapp S, Lichey N, Altmüller J, Lepkes L, Pohl-Rescigno E, Thiele H, Nürnberg P, Larsen M, Richters L, Rhiem K, Wappenschmidt B, Engel C, Meindl A, Schmutzler R, Hahnen E, Hauke J
BREAST CANCER RES. 2019;21(1):55.

2018

Analysis of shared heritability in common disorders of the brain
Anttila V, Bulik-Sullivan B, Finucane H, Walters R, Bras J, Duncan L, Escott-Price V, Falcone G, Gormley P, Malik R, Patsopoulos N, Ripke S, Wei Z, Yu D, Lee P, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze J, Duron E, Vardarajan B, Reitz C, Goate A, Huentelman M, Kamboh M, Larson E, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull W, Farrer L, Barnes L, Beach T, Demirci F, Head E, Hulette C, Jicha G, Kauwe J, Kaye J, Leverenz J, Levey A, Lieberman A, Pankratz V, Poon W, Quinn J, Saykin A, Schneider L, Smith A, Sonnen J, Stern R, Van Deerlin V, Van Eldik L, Harold D, Russo G, Rubinsztein D, Bayer A, Tsolaki M, Proitsi P, Fox N, Hampel H, Owen M, Mead S, Passmore P, Morgan K, Nöthen M, Rossor M, Lupton M, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis J, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee S, De Jager P, Geschwind D, Riemenschneider M, Riedel-Heller S, Rotter J, Ransmayr G, Hyman B, Cruchaga C, Alegret M, Winsvold B, Palta P, Farh K, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt G, Freilinger T, Ran C, Gordon S, Borck G, Adams H, Lehtimäki T, Wedenoja J, Buring J, Schürks M, Hrafnsdottir M, Hottenga J, Penninx B, Artto V, Kaunisto M, Vepsäläinen S, Martin N, Montgomery G, Kurki M, Hämäläinen E, Huang H, Huang J, Sandor C, Webber C, Muller-Myhsok B, Schreiber S, Salomaa V, Loehrer E, Göbel H, Macaya A, Pozo-Rosich P, Hansen T, Werge T, Kaprio J, Metspalu A, Kubisch C, Ferrari M, Belin A, van den Maagdenberg A, Zwart J, Boomsma D, Eriksson N, Olesen J, Chasman D, Nyholt D, Avbersek A, Baum L, Berkovic S, Bradfield J, Buono R, Catarino C, Cossette P, De Jonghe P, Depondt C, Dlugos D, Ferraro T, French J, Hjalgrim H, Jamnadas-Khoda J, Kälviäinen R, Kunz W, Lerche H, Leu C, Lindhout D, Lo W, Lowenstein D, McCormack M, Møller R, Molloy A, Ng P, Oliver K, Privitera M, Radtke R, Ruppert A, Sander T, Schachter S, Schankin C, Scheffer I, Schoch S, Sisodiya S, Smith P, Sperling M, Striano P, Surges R, Thomas G, Visscher F, Whelan C, Zara F, Heinzen E, Marson A, Becker F, Stroink H, Zimprich F, Gasser T, Gibbs R, Heutink P, Martinez M, Morris H, Sharma M, Ryten M, Mok K, Pulit S, Bevan S, Holliday E, Attia J, Battey T, Boncoraglio G, Thijs V, Chen W, Mitchell B, Rothwell P, Sharma P, Sudlow C, Vicente A, Markus H, Kourkoulis C, Pera J, Raffeld M, Silliman S, Boraska Perica V, Thornton L, Huckins L, William Rayner N, Lewis C, Gratacos M, Rybakowski F, Keski-Rahkonen A, Raevuori A, Hudson J, Reichborn-Kjennerud T, Monteleone P, Karwautz A, Mannik K, Baker J, O'Toole J, Trace S, Davis O, Helder S, Ehrlich S, Herpertz-Dahlmann B, Danner U, van Elburg A, Clementi M, Forzan M, Docampo E, Lissowska J, Hauser J, Tortorella A, Maj M, Gonidakis F, Tziouvas K, Papezova H, Yilmaz Z, Wagner G, Cohen-Woods S, Herms S, Julià A, Rabionet R, Dick D, Ripatti S, Andreassen O, Espeseth T, Lundervold A, Steen V, Pinto D, Scherer S, Aschauer H, Schosser A, Alfredsson L, Padyukov L, Halmi K, Mitchell J, Strober M, Bergen A, Kaye W, Szatkiewicz J, Cormand B, Ramos-Quiroga J, Sánchez-Mora C, Ribasés M, Casas M, Hervas A, Arranz M, Haavik J, Zayats T, Johansson S, Williams N, Dempfle A, Rothenberger A, Kuntsi J, Oades R, Banaschewski T, Franke B, Buitelaar J, Arias Vasquez A, Doyle A, Reif A, Lesch K, Freitag C, Rivero O, Palmason H, Romanos M, Langley K, Rietschel M, Witt S, Dalsgaard S, Børglum A, Waldman I, Wilmot B, Molly N, Bau C, Crosbie J, Schachar R, Loo S, McGough J, Grevet E, Medland S, Robinson E, Weiss L, Bacchelli E, Bailey A, Bal V, Battaglia A, Betancur C, Bolton P, Cantor R, Celestino-Soper P, Dawson G, De Rubeis S, Duque F, Green A, Klauck S, Leboyer M, Levitt P, Maestrini E, Mane S, De-Luca D, Parr J, Regan R, Reichenberg A, Sandin S, Vorstman J, Wassink T, Wijsman E, Cook E, Santangelo S, Delorme R, Rogé B, Magalhaes T, Arking D, Schulze T, Thompson R, Strohmaier J, Matthews K, Melle I, Morris D, Blackwood D, McIntosh A, Bergen S, Schalling M, Jamain S, Maaser A, Fischer S, Reinbold C, Fullerton J, Guzman-Parra J, Mayoral F, Schofield P, Cichon S, Mühleisen T, Degenhardt F, Schumacher J, Bauer M, Mitchell P, Gershon E, Rice J, Potash J, Zandi P, Craddock N, Ferrier I, Alda M, Rouleau G, Turecki G, Ophoff R, Pato C, Anjorin A, Stahl E, Leber M, Czerski P, Cruceanu C, Jones I, Posthuma D, Andlauer T, Forstner A, Streit F, Baune B, Air T, Sinnamon G, Wray N, MacIntyre D, Porteous D, Homuth G, Rivera M, Grove J, Middeldorp C, Hickie I, Pergadia M, Mehta D, Smit J, Jansen R, de Geus E, Dunn E, Li Q, Nauck M, Schoevers R, Beekman A, Knowles J, Viktorin A, Arnold P, Barr C, Bedoya-Berrio G, Bienvenu O, Brentani H, Burton C, Camarena B, Cappi C, Cath D, Cavallini M, Cusi D, Darrow S, Denys D, Derks E, Dietrich A, Fernandez T, Figee M, Freimer N, Gerber G, Grados M, Greenberg E, Hanna G, Hartmann A, Hirschtritt M, Hoekstra P, Huang A, Huyser C, Illmann C, Jenike M, Kuperman S, Leventhal B, Lochner C, Lyon G, Macciardi F, Madruga-Garrido M, Malaty I, Maras A, McGrath L, Miguel E, Mir P, Nestadt G, Nicolini H, Okun M, Pakstis A, Paschou P, Piacentini J, Pittenger C, Plessen K, Ramensky V, Ramos E, Reus V, Richter M, Riddle M, Robertson M, Roessner V, Rosário M, Samuels J, Sandor P, Stein D, Tsetsos F, Van Nieuwerburgh F, Weatherall S, Wendland J, Wolanczyk T, Worbe Y, Zai G, Goes F, McLaughlin N, Nestadt P, Grabe H, Depienne C, Konkashbaev A, Lanzagorta N, Valencia-Duarte A, Bramon E, Buccola N, Cahn W, Cairns M, Chong S, Cohen D, Crespo-Facorro B, Crowley J, Davidson M, DeLisi L, Dinan T, Donohoe G, Drapeau E, Duan J, Haan L, Hougaard D, Karachanak-Yankova S, Khrunin A, Klovins J, Kučinskas V, Lee Chee Keong J, Limborska S, Loughland C, Lönnqvist J, Maher B, Mattheisen M, McDonald C, Murphy K, Nenadic I, van Os J, Pantelis C, Pato M, Petryshen T, Quested D, Roussos P, Sanders A, Schall U, Schwab S, Sim K, So H, Stögmann E, Subramaniam M, Toncheva D, Waddington J, Walters J, Weiser M, Cheng W, Cloninger R, Curtis D, Gejman P, Henskens F, Mattingsdal M, Oh S, Scott R, Webb B, Breen G, Churchhouse C, Bulik C, Daly M, Dichgans M, Faraone S, Guerreiro R, Holmans P, Kendler K, Koeleman B, Mathews C, Price A, Scharf J, Sklar P, Williams J, Wood N, Cotsapas C, Palotie A, Smoller J, Sullivan P, Rosand J, Corvin A, Neale B, Schott J, Anney R, Elia J, Grigoroiu-Serbanescu M, Edenberg H, Murray R
SCIENCE. 2018;360(6395):1313-+.

Hot-spot KIF5A mutations cause familial ALS
Brenner D, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, Grosskreutz J, Weydt P, Ruf W, Neuwirth C, Weber M, Pinto S, Claeys K, Schrank B, Jordan B, Knehr A, Günther K, Hübers A, Zeller D, Kubisch C, Jablonka S, Sendtner M, Klopstock T, de Carvalho M, Sperfeld A, Borck G, Volk A, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer K, Freischmidt A, Meitinger T, Strom T, Ludolph A, Andersen P, Weishaupt J
BRAIN. 2018;141(3):688-697.

Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer
Hauke J, Horvath J, Groß E, Gehrig A, Honisch E, Hackmann K, Schmidt G, Arnold N, Faust U, Sutter C, Hentschel J, Wang-Gohrke S, Smogavec M, Weber B, Weber-Lassalle N, Weber-Lassalle K, Borde J, Ernst C, Altmüller J, Volk A, Thiele H, Hübbel V, Nürnberg P, Keupp K, Versmold B, Pohl E, Kubisch C, Grill S, Paul V, Herold N, Lichey N, Rhiem K, Ditsch N, Ruckert C, Wappenschmidt B, Auber B, Rump A, Niederacher D, Haaf T, Ramser J, Dworniczak B, Engel C, Meindl A, Schmutzler R, Hahnen E
CANCER MED-US. 2018;7(4):1349-1358.

Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies
Kakar N, Horn D, Decker E, Sowada N, Kubisch C, Ahmad J, Borck G, Bergmann C
AM J MED GENET A. 2018;176(2):438-442.

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
Lessel D, Gehbauer C, Bramswig N, Schluth-Bolard C, Venkataramanappa S, van Gassen K, Hempel M, Haack T, Baresic A, Genetti C, Funari M, Lessel I, Kuhlmann L, Simon R, Liu P, Denecke J, Kuechler A, de Kruijff I, Shoukier M, Lek M, Mullen T, Lüdecke H, Lerario A, Kobbe R, Krieger T, Demeer B, Lebrun M, Keren B, Nava C, Buratti J, Afenjar A, Shinawi M, Guillen Sacoto M, Gauthier J, Hamdan F, Laberge A, Campeau P, Louie R, Cathey S, Prinz I, Jorge A, Terhal P, Lenhard B, Wieczorek D, Strom T, Agrawal P, Britsch S, Tolosa E, Kubisch C
BRAIN. 2018;141(8):2299-2311.

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations
Lessel D, Ozel A, Campbell S, Saadi A, Arlt M, McSweeney K, Plaiasu V, Szakszon K, Szőllős A, Rusu C, Rojas A, Lopez-Valdez J, Thiele H, Nürnberg P, Nickerson D, Bamshad M, Li J, Kubisch C, Glover T, Gordon L
HUM GENET. 2018;137(11-12):921-939.

Comprehensive analysis of the mutation spectrum in 301 German ALS families
Müller K, Brenner D, Weydt P, Meyer T, Grehl T, Petri S, Grosskreutz J, Schuster J, Volk A, Borck G, Kubisch C, Klopstock T, Zeller D, Jablonka S, Sendtner M, Klebe S, Knehr A, Günther K, Weis J, Claeys K, Schrank B, Sperfeld A, Hübers A, Otto M, Dorst J, Meitinger T, Strom T, Andersen P, Ludolph A, Weishaupt J
J NEUROL NEUROSUR PS. 2018;89(8):817-827.

The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy
Rosenbohm A, Hirsch S, Volk A, Grehl T, Grosskreutz J, Hanisch F, Herrmann A, Kollewe K, Kress W, Meyer T, Petri S, Prudlo J, Wessig C, Müller H, Dreyhaupt J, Weishaupt J, Kubisch C, Kassubek J, Weydt P, Ludolph A
J NEUROL. 2018;265(5):1026-1036.

CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures
Sargolzaeiaval F, Zhang J, Schleit J, Lessel D, Kubisch C, Precioso D, Sillence D, Hisama F, Dorschner M, Martin G, Oshima J
MOL GENET GENOM MED. 2018;6(6):1148-1156.

Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis
Volk A, Weishaupt J, Andersen P, Ludolph A, Kubisch C
MED GENET-BERLIN. 2018;30(2):252-258.

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer
Weber-Lassalle N, Hauke J, Ramser J, Richters L, Groß E, Blümcke B, Gehrig A, Kahlert A, Müller C, Hackmann K, Honisch E, Weber-Lassalle K, Niederacher D, Borde J, Thiele H, Ernst C, Altmüller J, Neidhardt G, Nürnberg P, Klaschik K, Schroeder C, Platzer K, Volk A, Wang-Gohrke S, Just W, Auber B, Kubisch C, Schmidt G, Horvath J, Wappenschmidt B, Engel C, Arnold N, Dworniczak B, Rhiem K, Meindl A, Schmutzler R, Hahnen E
BREAST CANCER RES. 2018;20(1):7.

Interdisciplinary Screening, Diagnosis, Therapy and Follow-up of Breast Cancer. Guideline of the DGGG and the DKG (S3-Level, AWMF Registry Number 032/045OL, December 2017) - Part 2 with Recommendations for the Therapy of Primary, Recurrent and Advanced Breast Cancer
Wöckel A, Festl J, Stüber T, Brust K, Krockenberger M, Heuschmann P, Jírů-Hillmann S, Albert U, Budach W, Follmann M, Janni W, Kopp I, Kreienberg R, Kühn T, Langer T, Nothacker M, Scharl A, Schreer I, Link H, Engel J, Fehm T, Weis J, Welt A, Steckelberg A, Feyer P, König K, Hahne A, Baumgartner T, Kreipe H, Knoefel W, Denkinger M, Brucker S, Lüftner D, Kubisch C, Gerlach C, Lebeau A, Siedentopf F, Petersen C, Bartsch H, Schulz-Wendtland R, Hahn M, Hanf V, Müller-Schimpfle M, Henscher U, Roncarati R, Katalinic A, Heitmann C, Honegger C, Paradies K, Bjelic-Radisic V, Degenhardt F, Wenz F, Rick O, Hölzel D, Zaiss M, Kemper G, Budach V, Denkert C, Gerber B, Tesch H, Hirsmüller S, Sinn H, Dunst J, Münstedt K, Bick U, Fallenberg E, Tholen R, Hung R, Baumann F, Beckmann M, Blohmer J, Fasching P, Lux M, Harbeck N, Hadji P, Hauner H, Heywang-Köbrunner S, Huober J, Hübner J, Jackisch C, Loibl S, Lück H, von Minckwitz G, Möbus V, Müller V, Nöthlings U, Schmidt M, Schmutzler R, Schneeweiss A, Schütz F, Stickeler E, Thomssen C, Untch M, Wesselmann S, Bücker A, Buck A, Stangl S
GEBURTSH FRAUENHEILK. 2018;78(11):1056-1088.

Interdisciplinary Screening, Diagnosis, Therapy and Follow-up of Breast Cancer. Guideline of the DGGG and the DKG (S3-Level, AWMF Registry Number 032/045OL, December 2017) - Part 1 with Recommendations for the Screening, Diagnosis and Therapy of Breast Cancer
Wöckel A, Festl J, Stüber T, Brust K, Stangl S, Heuschmann P, Albert U, Budach W, Follmann M, Janni W, Kopp I, Kreienberg R, Kühn T, Langer T, Nothacker M, Scharl A, Schreer I, Link H, Engel J, Fehm T, Weis J, Welt A, Steckelberg A, Feyer P, König K, Hahne A, Kreipe H, Knoefel W, Denkinger M, Brucker S, Lüftner D, Kubisch C, Gerlach C, Lebeau A, Siedentopf F, Petersen C, Bartsch H, Schulz-Wendtland R, Hahn M, Hanf V, Müller-Schimpfle M, Henscher U, Roncarati R, Katalinic A, Heitmann C, Honegger C, Paradies K, Bjelic-Radisic V, Degenhardt F, Wenz F, Rick O, Hölzel D, Zaiss M, Kemper G, Budach V, Denkert C, Gerber B, Tesch H, Hirsmüller S, Sinn H, Dunst J, Münstedt K, Bick U, Fallenberg E, Tholen R, Hung R, Baumann F, Beckmann M, Blohmer J, Fasching P, Lux M, Harbeck N, Hadji P, Hauner H, Heywang-Köbrunner S, Huober J, Hübner J, Jackisch C, Loibl S, Lück H, von Minckwitz G, Möbus V, Müller V, Nöthlings U, Schmidt M, Schmutzler R, Schneeweiss A, Schütz F, Stickeler E, Thomssen C, Untch M, Wesselmann S, Bücker A, Krockenberger M
GEBURTSH FRAUENHEILK. 2018;78(10):927-948.

Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome
Xu L, Jensen H, Johnston J, Di Maria E, Kloth K, Cristea I, Sapp J, Darling T, Huryn L, Tranebjærg L, Cinotti E, Kubisch C, Rødahl E, Bruland O, Biesecker L, Houge G, Bredrup C
AM J HUM GENET. 2018;103(6):976-983.

Molecular genetic overlap between migraine and major depressive disorder
Yang Y, Zhao H, Boomsma D, Ligthart L, Belin A, Smith G, Esko T, Freilinger T, Hansen T, Ikram M, Kallela M, Kubisch C, Paraskevi C, Strachan D, Wessman M, van den Maagdenberg A, Terwindt G, Nyholt D
EUR J HUM GENET. 2018;26(8):1202-1216.

2017

A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction
Fazeli W, Herkenrath P, Stiller B, Neugebauer A, Fricke J, Lang-Roth R, Nürnberg G, Thoenes M, Becker J, Altmüller J, Volk A, Kubisch C, Heller R
HUM MOL GENET. 2017;26(20):4055-4066.

Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies
Hempel M, Casar Tena T, Diehl T, Burczyk M, Strom T, Kubisch C, Philipp M, Lessel D
HUM GENET. 2017;136(3):339-346.

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features
Kloth K, Denecke J, Hempel M, Johannsen J, Strom T, Kubisch C, Lessel D
EUR J MED GENET. 2017;60(9):494-498.

AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance
Lang-Roth R, Fischer-Krall E, Kornblum C, Nürnberg G, Meschede D, Goebel I, Nürnberg P, Beutner D, Kubisch C, Walger M, Volk A
AUDIOL NEURO-OTOL. 2017;22(1):30-40.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
Lessel D, Schob C, Küry S, Reinders M, Harel T, Eldomery M, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann A, Gerkes E, Tessarech M, Bonneau D, Barth M, Besnard T, Cogné B, Revah-Politi A, Strom T, Rosenfeld J, Yang Y, Posey J, Immken L, Oundjian N, Helbig K, Meeks N, Zegar K, Morton J, , Schieving J, Claasen A, Huentelman M, Narayanan V, Ramsey K, Brunner H, Elpeleg O, Mercier S, Bézieau S, Kubisch C, Kleefstra T, Kindler S, Lupski J, Kreienkamp H
AM J HUM GENET. 2017;101(5):716-724.

Dysfunction of the MDM2/p53 axis is linked to premature aging
Lessel D, Wu D, Trujillo C, Ramezani T, Lessel I, Alwasiyah M, Saha B, Hisama F, Rading K, Goebel I, Schütz P, Speit G, Högel J, Thiele H, Nürnberg G, Nürnberg P, Hammerschmidt M, Zhu Y, Tong D, Katz C, Martin G, Oshima J, Prives C, Kubisch C
J CLIN INVEST. 2017;127(10):3598-3608.

Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy
Rolvien T, Butscheidt S, Jeschke A, Neu A, Denecke J, Kubisch C, Meisler M, Püschel K, Barvencik F, Yorgan T, Oheim R, Schinke T, Amling M
BONE. 2017;103:136-143.

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1
Said E, Chong J, Hempel M, Denecke J, Soler P, Strom T, Nickerson D, Kubisch C, Bamshad M, Lessel D
AM J MED GENET A. 2017;173(11):3098-3103.

The role of de novo mutations in the development of amyotrophic lateral sclerosis
van Doormaal P, Ticozzi N, Weishaupt J, Kenna K, Diekstra F, Verde F, Andersen P, Dekker A, Tiloca C, Marroquin N, Overste D, Pensato V, Nürnberg P, Pulit S, Schellevis R, Calini D, Altmüller J, Francioli L, Muller B, Castellotti B, Motameny S, Ratti A, Wolf J, Gellera C, Ludolph A, van den Berg L, Kubisch C, Landers J, Veldink J, Silani V, Volk A
HUM MUTAT. 2017;38(11):1534-1541.

The rapid evolution of molecular genetic diagnostics in neuromuscular diseases
Volk A, Kubisch C
CURR OPIN NEUROL. 2017;30(5):523-528.

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
Yokote K, Chanprasert S, Lee L, Eirich K, Takemoto M, Watanabe A, Koizumi N, Lessel D, Mori T, Hisama F, Ladd P, Angle B, Baris H, Cefle K, Palanduz S, Ozturk S, Chateau A, Deguchi K, Easwar T, Federico A, Fox A, Grebe T, Hay B, Nampoothiri S, Seiter K, Streeten E, Piña-Aguilar R, Poke G, Poot M, Posmyk R, Martin G, Kubisch C, Schindler D, Oshima J
HUM MUTAT. 2017;38(1):7-15.

2016

Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia
Daud S, Kakar N, Goebel I, Hashmi A, Yaqub T, Nürnberg G, Nürnberg P, Morris-Rosendahl D, Wasim M, Volk A, Kubisch C, Ahmad J, Borck G
AMYOTROPH LAT SCL FR. 2016;17(3-4):260-265.

Systematic re-evaluation of genes from candidate gene association studies in migraine using a large genome-wide association data set
de Vries B, Anttila V, Freilinger T, Wessman M, Kaunisto M, Kallela M, Artto V, Vijfhuizen L, Göbel H, Dichgans M, Kubisch C, Ferrari M, Palotie A, Terwindt G, van den Maagdenberg A
CEPHALALGIA. 2016;36(7):604-14.

Involvement of astrocyte and oligodendrocyte gene sets in migraine
Eising E, de Leeuw C, Min J, Anttila V, Verheijen M, Terwindt G, Dichgans M, Freilinger T, Kubisch C, Ferrari M, Smit A, de Vries B, Palotie A, van den Maagdenberg A, Posthuma D
CEPHALALGIA. 2016;36(7):640-7.

Early-onset familial hemiplegic migraine due to a novel SCN1A mutation
Fan C, Wolking S, Lehmann-Horn F, Hedrich U, Freilinger T, Lerche H, Borck G, Kubisch C, Jurkat-Rott K
CEPHALALGIA. 2016;36(13):1238-1247.

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
Gormley P, Anttila V, Winsvold B, Palta P, Esko T, Pers T, Farh K, Cuenca-Leon E, Muona M, Furlotte N, Kurth T, Ingason A, McMahon G, Ligthart L, Terwindt G, Kallela M, Freilinger T, Ran C, Gordon S, Stam A, Steinberg S, Borck G, Koiranen M, Quaye L, Adams H, Lehtimäki T, Sarin A, Wedenoja J, Hinds D, Buring J, Schürks M, Ridker P, Hrafnsdottir M, Stefansson H, Ring S, Hottenga J, Penninx B, Färkkilä M, Artto V, Kaunisto M, Vepsäläinen S, Malik R, Heath A, Madden P, Martin N, Montgomery G, Kurki M, Kals M, Mägi R, Pärn K, Hämäläinen E, Huang H, Byrnes A, Franke L, Huang J, Stergiakouli E, Lee P, Sandor C, Webber C, Cader Z, Muller-Myhsok B, Schreiber S, Meitinger T, Eriksson J, Salomaa V, Heikkilä K, Loehrer E, Uitterlinden A, Hofman A, van Duijn C, Cherkas L, Pedersen L, Stubhaug A, Nielsen C, Männikkö M, Mihailov E, Milani L, Göbel H, Esserlind A, Christensen A, Hansen T, Werge T, Kaprio J, Aromaa A, Raitakari O, Ikram M, Spector T, Järvelin M, Metspalu A, Kubisch C, Strachan D, Ferrari M, Belin A, Dichgans M, Wessman M, van den Maagdenberg A, Zwart J, Boomsma D, Smith G, Stefansson K, Eriksson N, Daly M, Neale B, Olesen J, Chasman D, Nyholt D, Palotie A
NAT GENET. 2016;48(8):856-66.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
Kim J, Shinde D, Reijnders M, Hauser N, Belmonte R, Wilson G, Bosch D, Bubulya P, Shashi V, Petrovski S, Stone J, Park E, Veltman J, Sinnema M, Stumpel C, Draaisma J, Nicolai J, Yntema H, Lindstrom K, de Vries B, Jewett T, Santoro S, Vogt J, Bachman K, Seeley A, Krokosky A, Turner C, Rohena L, Hempel M, Kortüm F, Lessel D, Neu A, Strom T, Wieczorek D, Bramswig N, Laccone F, Behunova J, Rehder H, Gordon C, Rio M, Romana S, Tang S, El-Khechen D, Cho M, McWalter K, Douglas G, Baskin B, Begtrup A, Funari T, Schoch K, Stegmann A, Stevens S, Zhang D, Traver D, Yao X, MacArthur D, Brunner H, Mancini G, Myers R, Owen L, Lim S, Stachura D, Vissers L, Ahn E
AM J HUM GENET. 2016;99(3):711-9.

The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5
Lessel D, Muhammad T, Casar Tena T, Moepps B, Burkhalter M, Hitz M, Toka O, Rentzsch A, Schubert S, Schalinski A, Bauer U, Kubisch C, Ware S, Philipp M
SCI REP-UK. 2016;6:33231.

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients
Sadovnick A, Traboulsee A, Bernales C, Ross J, Forwell A, Yee I, Guillot-Noel L, Fontaine B, Cournu-Rebeix I, Alcina A, Fedetz M, Izquierdo G, Matesanz F, Hilven K, Dubois B, Goris A, Astobiza I, Alloza I, Antigüedad A, Vandenbroeck K, Akkad D, Aktas O, Blaschke P, Buttmann M, Chan A, Epplen J, Gerdes L, Kroner A, Kubisch C, Kümpfel T, Lohse P, Rieckmann P, Zettl U, Zipp F, Bertram L, Lill C, Fernandez O, Urbaneja P, Leyva L, Alvarez-Cermeño J, Arroyo R, Garagorri A, García-Martínez A, Villar L, Urcelay E, Malhotra S, Montalban X, Comabella M, Berger T, Fazekas F, Reindl M, Schmied M, Zimprich A, Vilariño-Güell C
G3-GENES GENOM GENET. 2016;6(7):2073-9.

Increased copper toxicity in Saccharomyces cerevisiae lacking VPS35, a component of the retromer and monogenic Parkinson disease gene in humans
Sowada N, Stiller B, Kubisch C
BIOCHEM BIOPH RES CO. 2016;476(4):528-33.

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice
Spielmann M, Kakar N, Tayebi N, Leettola C, Nürnberg G, Sowada N, Lupiáñez D, Harabula I, Flöttmann R, Horn D, Chan W, Wittler L, Yilmaz R, Altmüller J, Thiele H, van Bokhoven H, Schwartz C, Nürnberg P, Bowie J, Ahmad J, Kubisch C, Mundlos S, Borck G
GENOME RES. 2016;26(2):183-91.

Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients
Steinacker P, Feneberg E, Weishaupt J, Brettschneider J, Tumani H, Andersen P, von Arnim C, Böhm S, Kassubek J, Kubisch C, Lulé D, Müller H, Muche R, Pinkhardt E, Oeckl P, Rosenbohm A, Anderl-Straub S, Volk A, Weydt P, Ludolph A, Otto M
J NEUROL NEUROSUR PS. 2016;87(1):12-20.

Gene-based pleiotropy across migraine with aura and migraine without aura patient groups
Zhao H, Eising E, de Vries B, Vijfhuizen L, Anttila V, Winsvold B, Kurth T, Stefansson H, Kallela M, Malik R, Stam A, Ikram M, Ligthart L, Freilinger T, Alexander M, Müller-Myhsok B, Schreiber S, Meitinger T, Aromas A, Eriksson J, Boomsma D, van Duijn C, Zwart J, Quaye L, Kubisch C, Dichgans M, Wessman M, Stefansson K, Chasman D, Palotie A, Martin N, Montgomery G, Ferrari M, Terwindt G, van den Maagdenberg A, Nyholt D
CEPHALALGIA. 2016;36(7):648-57.

2015

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies
Borck G, Hög F, Dentici M, Tan P, Sowada N, Medeira A, Gueneau L, Thiele H, Kousi M, Lepri F, Wenzeck L, Blumenthal I, Radicioni A, Schwarzenberg T, Mandriani B, Fischetto R, Morris-Rosendahl D, Altmüller J, Reymond A, Nürnberg P, Merla G, Dallapiccola B, Katsanis N, Cramer P, Kubisch C
GENOME RES. 2015;25(2):155-66.

Interactive effects of citalopram and serotonin transporter genotype on neural correlates of response inhibition and attentional orienting
Fischer A, Endrass T, Goebel , Reuter M, Montag C, Kubisch C, Ullsperger M
NEUROIMAGE. 2015;116:59-67.

Serotonin reuptake inhibitors and serotonin transporter genotype modulate performance monitoring functions but not their electrophysiological correlates
Fischer A, Endrass T, Reuter M, Kubisch C, Ullsperger M
J NEUROSCI. 2015;35(21):8181-90.

Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis
Hedergott A, Volk A, Herkenrath P, Thiele H, Fricke J, Altmüller J, Nürnberg P, Kubisch C, Neugebauer A
GRAEF ARCH CLIN EXP. 2015;253(12):2239-2246.

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment
Hempel M, Cremer K, Ockeloen C, Lichtenbelt K, Herkert J, Denecke J, Haack T, Zink A, Becker J, Wohlleber E, Johannsen J, Alhaddad B, Pfundt R, Fuchs S, Wieczorek D, Strom T, van Gassen K, Kleefstra T, Kubisch C, Engels H, Lessel D
AM J HUM GENET. 2015;97(3):493-500.

Clinical utility gene card for Werner Syndrome - Update 2014
Hisama F, Kubisch C, Martin G, Oshima J
EUR J HUM GENET. 2015;23(6):.

De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients
Hübers A, Just W, Rosenbohm A, Müller K, Marroquin N, Goebel , Högel J, Thiele H, Altmüller J, Nürnberg P, Weishaupt J, Kubisch C, Ludolph A, Volk A
NEUROBIOL AGING. 2015;36(11):Art. 3117.e1.

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly
Kakar N, Ahmad J, Morris-Rosendahl D, Altmüller J, Friedrich K, Barbi G, Nürnberg P, Kubisch C, Dobyns W, Borck G
HUM GENET. 2015;134(1):45-51.

Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome
Kuechler A, Altmüller J, Nürnberg P, Kotthoff S, Kubisch C, Borck G
MOL CELL PROBE. 2015;29(5):330-334.

POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome
Lessel D, Hisama F, Szakszon K, Saha B, Sanjuanelo A, Salbert B, Steele P, Baldwin J, Brown W, Piussan C, Plauchu H, Szilvássy J, Horkay E, Högel J, Martin G, Herr A, Oshima J, Kubisch C
HUM MUTAT. 2015;36(11):1070-9.

Genome-wide significant association with seven novel multiple sclerosis risk loci
Lill C, Luessi F, Alcina A, Sokolova E, Ugidos N, de la Hera B, Guillot-Noël L, Malhotra S, Reinthaler E, Schjeide B, Mescheriakova J, Mashychev A, Wohlers I, Akkad D, Aktas O, Alloza I, Antigüedad A, Arroyo R, Astobiza I, Blaschke P, Boyko A, Buttmann M, Chan A, Dörner T, Epplen J, Favorova O, Fedetz M, Fernández O, García-Martínez A, Gerdes L, Graetz C, Hartung H, Hoffjan S, Izquierdo G, Korobko D, Kroner A, Kubisch C, Kümpfel T, Leyva L, Lohse P, Malkova N, Montalban X, Popova E, Rieckmann P, Rozhdestvenskii A, Schmied C, Smagina I, Tsareva E, Winkelmann A, Zettl U, Binder H, Cournu-Rebeix I, Hintzen R, Zimprich A, Comabella M, Fontaine B, Urcelay E, Vandenbroeck K, Filipenko M, Matesanz F, Zipp F, Bertram L
J MED GENET. 2015;52(12):848-855.

Shared genetic basis for migraine and ischemic stroke: A genome-wide analysis of common variants
Malik R, Freilinger T, Winsvold B, Anttila V, Vander Heiden J, Traylor M, de Vries B, Holliday E, Terwindt G, Sturm J, Bis J, Hopewell J, Ferrari M, Rannikmae K, Wessman M, Kallela M, Kubisch C, Fornage M, Meschia J, Lehtimäki T, Sudlow C, Clarke R, Chasman D, Mitchell B, Maguire J, Kaprio J, Farrall M, Raitakari O, Kurth T, Ikram M, Reiner A, Longstreth W, Rothwell P, Strachan D, Sharma P, Seshadri S, Quaye L, Cherkas L, Schürks M, Rosand J, Ligthart L, Boncoraglio G, Davey Smith G, van Duijn C, Stefansson K, Worrall B, Nyholt D, Markus H, van den Maagdenberg A, Cotsapas C, Zwart J, Palotie A, Dichgans M
NEUROLOGY. 2015;84(21):2132-45.

Concordance of genetic risk across migraine subgroups: Impact on current and future genetic association studies
Nyholt D, Anttila V, Winsvold B, Kurth T, Stefansson H, Kallela M, Malik R, Vries B, Terwindt G, Ikram M, Stam A, Ligthart L, Freilinger T, Alexander M, Muller-Myhsok B, Schreiber S, Meitinger T, Aromaa A, Eriksson J, Kaprio J, Boomsma D, Duijn C, Raitakari O, Järvelin M, Zwart J, Quaye L, Strachan D, Kubisch C, Ferrari M, van den Maagdenberg A, Dichgans M, Wessman M, Smith G, Stefansson K, Chasman D, Palotie A
CEPHALALGIA. 2015;35(6):489-99.

A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate
Reiter R, Brosch S, Goebel , Ludwig K, Pickhard A, Högel J, Schlömer G, Mangold E, Kubisch C, Borck G
AM J MED GENET A. 2015;167(3):670-3.

A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing
Yilmaz R, Beleza-Meireles A, Price S, Oliveira R, Kubisch C, Clayton-Smith J, Szakszon K, Borck G
AM J MED GENET A. 2015;167(12):3006-3010.

2014

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
Akimoto C, Volk A, van Blitterswijk M, Van den Broeck M, Leblond C, Lumbroso S, Camu W, Neitzel B, Onodera O, van Rheenen W, Pinto S, Weber M, Smith B, Proven M, Talbot K, Keagle P, Chesi A, Ratti A, van der Zee J, Alstermark H, Birve A, Calini D, Nordin A, Tradowsky D, Just W, Daoud H, Angerbauer S, DeJesus-Hernandez M, Konno T, Lloyd-Jani A, de Carvalho M, Mouzat K, Landers J, Veldink J, Silani V, Gitler A, Shaw C, Rouleau G, van den Berg L, Van Broeckhoven C, Rademakers R, Andersen P, Kubisch C
J MED GENET. 2014;51(6):419-24.

A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother
Aulitzky A, Friedrich K, Gläser D, Gastl R, Kubisch C, Ludolph A, Volk A
J NEUROL SCI. 2014;347(1-2):352-5.

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations
Basel-Vanagaite L, Yilmaz R, Tang S, Reuter M, Rahner N, Grange D, Mortenson M, Koty P, Feenstra H, Farwell Gonzalez K, Sticht H, Boddaert N, Désir J, Anyane-Yeboa K, Zweier C, Reis A, Kubisch C, Jewett T, Zeng W, Borck G
HUM GENET. 2014;133(7):939-49.

Homozygous truncating PTPRF mutation causes athelia
Borck G, de Vries L, Wu H, Smirin-Yosef P, Nürnberg G, Lagovsky I, Ishida L, Thierry P, Wieczorek D, Nürnberg P, Foley J, Kubisch C, Basel-Vanagaite L
HUM GENET. 2014;133(8):1041-7.

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe
Graul-Neumann L, Deichsel A, Wille U, Kakar N, Koll R, Bassir C, Ahmad J, Cormier-Daire V, Mundlos S, Kubisch C, Borck G, Klopocki E, Mueller T, Doelken S, Seemann P
EUR J HUM GENET. 2014;22(6):726-33.

Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases
Hübers A, Marroquin N, Schmoll B, Vielhaber S, Just M, Mayer B, Högel J, Dorst J, Mertens T, Just W, Aulitzky A, Wais V, Ludolph A, Kubisch C, Weishaupt J, Volk A
NEUROBIOL AGING. 2014;35(5):1214.e1-6.

Atypical Aicardi-Goutieres syndrome - is the WRN locus a modifier?
Lessel D, Saha B, Hisama F, Kaymakamzade B, Nurlu G, Gursoy-Özdemir Y, Thiele H, Nürnberg P, Martin G, Kubisch C, Oshima J
AM J MED GENET A. 2014;164A(10):2510-3.

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features
Lessel D, Vaz B, Halder S, Lockhart P, Marinovic-Terzic I, Lopez-Mosqueda J, Philipp M, Sim J, Smith K, Oehler J, Cabrera E, Freire R, Pope K, Nahid A, Norris F, Leventer R, Delatycki M, Barbi G, von Ameln S, Högel J, Degoricija M, Fertig R, Burkhalter M, Hofmann K, Thiele H, Altmüller J, Nürnberg G, Nürnberg P, Bahlo M, Martin G, Aalfs C, Oshima J, Terzic J, Amor D, Dikic I, Ramadan K, Kubisch C
NAT GENET. 2014;46(11):1239-44.

Assessment of microRNA-related SNP effects in the 3' untranslated region of the IL22RA2 risk locus in multiple sclerosis
Lill C, Schilling M, Ansaloni S, Schröder J, Jaedicke M, Luessi F, Schjeide B, Mashychev A, Graetz C, Akkad D, Gerdes L, Kroner A, Blaschke P, Hoffjan S, Winkelmann A, Dörner T, Rieckmann P, Steinhagen-Thiessen E, Lindenberger U, Chan A, Hartung H, Aktas O, Lohse P, Buttmann M, Kümpfel T, Kubisch C, Zettl U, Epplen J, Zipp F, Bertram L
NEUROGENETICS. 2014;15(2):129-34.

Dopamine transporter deficiency Syndrome: phenotypic spectrum from infancy to adulthood
Ng J, Zhen J, Meyer E, Erreger K, Li Y, Kakar N, Ahmad J, Thiele H, Kubisch C, Rider N, Morton D, Strauss K, Puffenberger E, D'Agnano D, Anikster Y, Carducci C, Hyland K, Rotstein M, Leuzzi V, Borck G, Reith M, Kurian M
BRAIN. 2014;137(4):1107-19.

Can lesions to the motor cortex induce amyotrophic lateral sclerosis?
Rosenbohm A, Kassubek J, Weydt P, Marroquin N, Volk A, Kubisch C, Huppertz H, Weber M, Andersen P, Weishaupt J, Ludolph A
J NEUROL. 2014;261(2):283-90.

Carpal tunnel syndrome is associated with high fibrinogen and fibrinogen deposits
Utrobičić I, Novak I, Marinović-Terzić I, Matić K, Lessel D, Salamunić I, Babić M, Kunac N, Mešin A, Kubisch C, Maček B, Terzić J
NEUROSURGERY. 2014;75(3):276-85.

Oculogyric crises induced by levodopa in PLA2G6 parkinsonism-dystonia
Virmani T, Thenganatt M, Goldman J, Kubisch C, Greene P, Alcalay R
PARKINSONISM RELAT D. 2014;20(2):245-7.

2013

Genome-wide meta-analysis identifies new susceptibility loci for migraine
Anttila V, Winsvold B, Gormley P, Kurth T, Bettella F, McMahon G, Kallela M, Malik R, de Vries B, Terwindt G, Medland S, Todt U, McArdle W, Quaye L, Koiranen M, Ikram M, Lehtimäki T, Stam A, Ligthart L, Wedenoja J, Dunham I, Neale B, Palta P, Hamalainen E, Schürks M, Rose L, Buring J, Ridker P, Steinberg S, Stefansson H, Jakobsson F, Lawlor D, Evans D, Ring S, Färkkilä M, Artto V, Kaunisto M, Freilinger T, Schoenen J, Frants R, Pelzer N, Weller C, Zielman R, Heath A, Madden P, Montgomery G, Martin N, Borck G, Göbel H, Heinze A, Heinze-Kuhn K, Williams F, Hartikainen A, Pouta A, van den Ende J, Uitterlinden A, Hofman A, Amin N, Hottenga J, Vink J, Heikkilä K, Alexander M, Muller-Myhsok B, Schreiber S, Meitinger T, Wichmann H, Aromaa A, Eriksson J, Traynor B, Trabzuni D, Rossin E, Lage K, Jacobs S, Gibbs J, Birney E, Kaprio J, Penninx B, Boomsma D, van Duijn C, Raitakari O, Jarvelin M, Zwart J, Cherkas L, Strachan D, Kubisch C, Ferrari M, van den Maagdenberg A, Dichgans M, Wessman M, Smith G, Stefansson K, Daly M, Nyholt D, Chasman D, Palotie A
NAT GENET. 2013;45(8):912-7.

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum
Basel-Vanagaite L, Hershkovitz T, Heyman E, Raspall-Chaure M, Kakar N, Smirin-Yosef P, Vila-Pueyo M, Kornreich L, Thiele H, Bode H, Lagovsky I, Dahary D, Haviv A, Hubshman M, Pasmanik-Chor M, Nürnberg P, Gothelf D, Kubisch C, Shohat M, Macaya A, Borck G
AM J HUM GENET. 2013;93(3):524-9.

Ausgewählte Ionenkanalerkrankungen des peripheren Nervensystems
Borck G, Kubisch C
MED GENET-BERLIN. 2013;25(4):448-453.

Exon skipping and severe childhood-onset obesity caused by a leptin receptor mutation
Kakar N, Ahmad J, Kubisch C, Borck G
AM J MED GENET A. 2013;161(10):2672-4.

MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis
Lill C, Schjeide B, Graetz C, Ban M, Alcina A, Ortiz M, Pérez J, Damotte V, Booth D, Lopez de Lapuente A, Broer L, Schilling M, Akkad D, Aktas O, Alloza I, Antigüedad A, Arroyo R, Blaschke P, Buttmann M, Chan A, Compston A, Cournu-Rebeix I, Dörner T, Epplen J, Fernández Ó, Gerdes L, Guillot-Noël L, Hartung H, Hoffjan S, Izquierdo G, Kemppinen A, Kroner A, Kubisch C, Kümpfel T, Li S, Lindenberger U, Lohse P, Lubetzki C, Luessi F, Malhotra S, Mescheriakova J, Montalban X, Papeix C, Paredes L, Rieckmann P, Steinhagen-Thiessen E, Winkelmann A, Zettl U, Hintzen R, Vandenbroeck K, Stewart G, Fontaine B, Comabella M, Urcelay E, Matesanz F, Sawcer S, Bertram L, Zipp F
BRAIN. 2013;136(Pt 6):1778-82.

Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk
Lill C, Schjeide B, Graetz C, Liu T, Damotte V, Akkad D, Blaschke P, Gerdes L, Kroner A, Luessi F, Cournu-Rebeix I, Hoffjan S, Winkelmann A, Touze E, Pico F, Corcia P, Otaegui D, Antigüedad A, Alcina A, Comabella M, Montalban X, Olascoaga J, Matesanz F, Dörner T, Li S, Steinhagen-Thiessen E, Lindenberger U, Chan A, Rieckmann P, Hartung H, Aktas O, Lohse P, Buttmann M, Kümpfel T, Kubisch C, Zettl U, Epplen J, Fontaine B, Zipp F, Vandenbroeck K, Bertram L
J MED GENET. 2013;50(3):140-3.

Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry
Saha B, Lessel D, Nampoothiri S, Rao A, Hisama F, Peter D, Bennett C, Nürnberg G, Nürnberg P, Martin G, Kubisch C, Oshima J
MOL GENET GENOM MED. 2013;1(1):7-14.

A rare missense variant abrogates the signaling activity of tetherin/BST-2 without affecting its effect on virus release
Sauter D, Hotter D, Engelhart S, Giehler F, Kieser A, Kubisch C, Kirchhoff F
RETROVIROLOGY. 2013;10:85.

A novel MYO6 splice site mutation causes autosomal dominant sensorineural hearing loss type DFNA22 with a favourable outcome after cochlear implantation
Volk A, Lang-Roth R, Yigit G, Borck G, Nuernberg G, Rosenkranz S, Nuernberg P, Kubisch C, Beutner D
AUDIOL NEURO-OTOL. 2013;18(3):192-9.

Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics
Wildhardt G, Zirn B, Graul-Neumann L, Wechtenbruch J, Suckfüll M, Buske A, Bohring A, Kubisch C, Vogt S, Strobl-Wildemann G, Greally M, Bartsch O, Steinberger D
BMJ OPEN. 2013;3(3):.

2012

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.
Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends M, Miró X, White J, Désir J, Abramowicz M, Dentici M, Lepri F, Hofmann K, Har-Zahav A, Ryder E, Karp N, Estabel J, Gerdin A, Podrini C, Ingham N, Altmüller J, Nürnberg G, Frommolt P, Abdelhak S, Pasmanik-Chor M, Konen O, Kelley R, Shohat M, Nürnberg P, Flint J, Steel K, Hoppe T, Kubisch C, Adams D, Borck G
AM J HUM GENET. 2012;91(6):998-1010.

An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group.
Borck G, Kakar N, Hoch J, Friedrich K, Freudenberg J, Nürnberg G, Yilmaz R, Daud S, Baloch D, Nürnberg P, Oldenburg J, Ahmad J, Kubisch C
HUM GENET. 2012;131(2):209-216.

High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel.
Borck G, Rainshtein L, Hellman-Aharony S, Volk A, Friedrich K, Taub E, Magal N, Kanaan M, Kubisch C, Shohat M, Basel-Vanagaite L
CLIN GENET. 2012;82(3):271-276.

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.
Borck G, Shin B, Stiller B, Mimouni-Bloch A, Thiele H, Kim J, Thakur M, Skinner C, Aschenbach L, Smirin-Yosef P, Har-Zahav A, Nürnberg G, Altmüller J, Frommolt P, Hofmann K, Konen O, Nürnberg P, Munnich A, Schwartz C, Gothelf D, Colleaux L, Dever T, Kubisch C, Basel-Vanagaite L
MOL CELL. 2012;48(4):641-646.

A phenotype map for 14q32.3 terminal deletions.
Engels H, Schüler H, Zink A, Wohlleber E, Brockschmidt A, Hoischen A, Drechsler M, Lee J, Ludwig K, Kubisch C, Schwanitz G, Weber R, Leube B, Hennekam R, Rudnik-Schöneborn S, Kreiss-Nachtsheim M, Reutter H
AM J MED GENET A. 2012;158A(4):695-706.

Genome-wide association analysis identifies susceptibility loci for migraine without aura.
Freilinger T, Anttila V, de Vries B, Malik R, Kallela M, Terwindt G, Pozo-Rosich P, Winsvold B, Nyholt D, Oosterhout v, Willebrordus P, Artto V, Todt U, Hämäläinen E, Fernández-Morales J, Louter M, Kaunisto M, Schoenen J, Raitakari O, Lehtimäki T, Vila-Pueyo M, Göbel H, Wichmann E, Sintas C, Uitterlinden A, Hofman A, Rivadeneira F, Heinze A, Tronvik E, Duijn v, Cornelia M, Kaprio J, Cormand B, Wessman M, Frants R, Meitinger T, Müller-Myhsok B, Zwart J, Färkkilä M, Kubisch C, Ferrari M, Palotie A, Dichgans M, Maagdenberg v, Arn M, Consortium I
NAT GENET. 2012;44(7):777-782.

Clinical utility gene card for: Werner syndrome.
Hisama F, Kubisch C, Martin G, Oshima J
EUR J HUM GENET. 2012;20(5):.

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.
Kakar N, Goebel I, Daud S, Nürnberg G, Agha N, Ahmad A, Nürnberg P, Kubisch C, Ahmad J, Borck G
EUR J MED GENET. 2012;55(12):727-731.

Rare hereditary diseases with defects in DNA-repair.
Knoch J, Kamenisch Y, Kubisch C, Berneburg M
EUR J DERMATOL. 2012;22(4):443-455.

Replication of genetic susceptibility loci for testicular germ cell cancer in the Croatian population.
Lessel D, Gamulin M, Kulis T, Toliat M, Grgic M, Friedrich K, Zunec R, Balija M, Nürnberg P, Kastelan Z, Högel J, Kubisch C
CARCINOGENESIS. 2012;33(8):1548-1552.

Werner Syndrom - eine prototypische Form der segmentalen Progerie
Lessel D, Oshima J, Kubisch C
MED GENET-BERLIN. 2012;24(4):262-267.

Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects.
Lill C, Liu T, Schjeide B, Roehr J, Akkad D, Damotte V, Alcina A, Ortiz M, Arroyo R, Aitzkoa L, Blaschke P, Winkelmann A, Gerdes L, Luessi F, Fernadez O, Izquierdo G, Antigüedad A, Hoffjan S, Cournu-Rebeix I, Gromöller S, Faber H, Liebsch M, Meissner E, Chanvillard C, Touze E, Pico F, Corcia P, Dörner T, Steinhagen-Thiessen E, Baeckman L, Heekeren H, Li S, Lindenberger U, Chan A, Hartung H, Aktas O, Lohse P, Kümpfel T, Kubisch C, Zettl U, Fontaine B, Vandenbroeck K, Matesanz F, Urcelay E, Bertram L, Zipp F
J MED GENET. 2012;49(9):558-562.

Independent replication of STAT3 association with multiple sclerosis risk in a large German case-control sample.
Lill C, Schjeide B, Akkad D, Blaschke P, Winkelmann A, Gerdes L, Hoffjan S, Luessi F, Dörner T, Li S, Steinhagen-Thiessen E, Lindenberger U, Chan A, Hartung H, Aktas O, Lohse P, Kümpfel T, Kubisch C, Epplen J, Zettl U, Bertram L, Zipp F
NEUROGENETICS. 2012;13(1):83-86.

Variants in the 3'UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expression.
Schmitt I, Wüllner U, Rooyen v, Pierre J, Khazneh H, Becker J, Volk A, Kubisch C, Becker T, Kostic V, Klein C, Ramirez A
EUR J HUM GENET. 2012;20(12):1265-1269.

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.
von Ameln S, Wang G, Boulouiz R, Rutherford M, Smith G, Li Y, Pogoda H, Nürnberg G, Stiller B, Volk A, Borck G, Hong J, Goodyear R, Abidi O, Nürnberg P, Hofmann K, Richardson G, Hammerschmidt M, Moser T, Wollnik B, Koehler C, Teitell M, Barakat A, Kubisch C
AM J HUM GENET. 2012;91(5):919-927.

Letzte Aktualisierung aus dem FIS: 24.12.2024 - 04:02 Uhr