2024

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
Kaiyrzhanov R, Rad A, Lin S, Bertoli-Avella A, Kallemeijn W, Godwin A, Zaki M, Huang K, Lau T, Petree C, Efthymiou S, Ghayoor Karimiani E, Hempel M, Normand E, Rudnik-Schöneborn S, Schatz U, Baggelaar M, Ilyas M, Sultan T, Alvi J, Ganieva M, Fowler B, Aanicai R, Akay Tayfun G, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Bahrami Monajemi G, Mohammadi P, Samie S, Banu S, Basto J, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Hameed Issa A, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed B, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço C, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha M, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya J, Taylor R, Vazquez D, Vetro A, Waterham H, Zaman M, Schrader T, Chung W, Guerrini R, Lupski J, Gleeson J, Suri M, Jamshidi Y, Bhatia K, Vona B, Schrader M, Severino M, Guille M, Tate E, Varshney G, Houlden H, Maroofian R
BRAIN. 2024;147(4):1436–1456.

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.

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.

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.

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.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
Rots D, Jakub T, Keung C, Jackson A, Banka S, Pfundt R, de Vries B, van Jaarsveld R, Hopman S, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz J, Andersen C, Kibæk M, Prijoles E, Stevenson R, Everman D, Patterson W, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke P, Lopez Garcia M, Perrier R, Sousa S, Almeida P, Simões M, Isidor B, Deb W, Schmanski A, Abdul-Rahman O, Philippe C, Bruel A, Faivre L, Vitobello A, Thauvin C, Smits J, Garavelli L, Caraffi S, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann A, Stumpel C, Tiller G, Bosch D, Potgieter S, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti A, Freitag C, Satterstrom F, De Rubeis S, Buxbaum J, Gelb B, Branko A, Kushima I, Howe J, Scherer S, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli F, Haack T, Dufke A, Bertrand M, Falb R, Rieß A, Krieg P, Spranger S, Bedeschi M, Iascone M, Josephi-Taylor S, Roscioli T, Buckley M, Liebelt J, Dagli A, Aten E, Hurst A, Hicks A, Suri M, Aliu E, Naik S, Sidlow R, Coursimault J, Nicolas G, Küpper H, Petit F, Ibrahim V, Top D, Di Cara F, , Louie R, Stolerman E, Brunner H, Vissers L, Kramer J, Kleefstra T
AM J HUM GENET. 2023;110(6):963-978.

2021

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha K, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini G, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A, , Kleefstra T, Stuurman K, Wilke M, Thompson M, Bebin E, Bijlsma E, Hoffer M, Peeters-Scholte C, Slavotinek A, Weiss W, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J, Yachelevich N, Lala S, Fernández-Jaen A, Pelayo J, Klöckner C, Kamphausen S, Abou Jamra R, Arelin M, Innes A, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki M, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday B, Robertson S, Lyonnet S, Amiel J, Gordon C
AM J HUM GENET. 2021;108(6):1138-1150.

More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly
Kloth K, Graul-Neumann L, Hermann K, Johannsen J, Bierhals T, Kortüm F
NEUROGENETICS. 2021;22(3):221-224.

Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes
Martin-Almedina S, Ogmen K, Sackey E, Grigoriadis D, Karapouliou C, Nadarajah N, Ebbing C, Lord J, Mellis R, Kortuem F, Dinulos M, Polun C, Bale S, Atton G, Robinson A, Reigstad H, Houge G, von der Wense A, Becker W, Jeffery S, Mortimer P, Gordon K, Josephs K, Robart S, Kilby M, Vallee S, Gorski J, Hempel M, Berland S, Mansour S, Ostergaard P
GENET MED. 2021;23(7):1376-1377.

Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes
Martin-Almedina S, Ogmen K, Sackey E, Grigoriadis D, Karapouliou C, Nadarajah N, Ebbing C, Lord J, Mellis R, Kortuem F, Dinulos M, Polun C, Bale S, Atton G, Robinson A, Reigstad H, Houge G, von der Wense A, Becker W, Jeffery S, Mortimer P, Gordon K, Josephs K, Robart S, Kilby M, Vallee S, Gorski J, Hempel M, Berland S, Mansour S, Ostergaard P
GENET MED. 2021;23(7):1315-1324.

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing
Nayak S, Schneeberger P, Patil S, Arun K, Suresh P, Kiran V, Siddaiah S, Maiya S, Venkatachalagupta S, Kausthubham N, Kortüm F, Rau I, Wey-Fabrizius A, Van Den Heuvel L, Meester J, Van Laer L, Shukla A, Loeys B, Girisha K, Kutsche K
SCI REP-UK. 2021;11(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.

2020

Truncating mutations in SHANK3 associated with global developmental delay interfere with nuclear β-catenin signaling
Hassani Nia F, Woike D, Kloth K, Kortüm F, Kreienkamp H
J NEUROCHEM. 2020;155(3):250-263.

Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants
Kortüm F, Niceta M, Magliozzi M, Kubat K, Robertson S, Moresco A, Dentici M, Baban A, Leoni C, Onesimo R, Obregon M, Digilio M, Zampino G, Novelli A, Tartaglia M, Kutsche K
EUR J MED GENET. 2020;63(9):103996.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
Schneeberger P, Kortüm F, Korenke G, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb B, Coci E, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier E, Javaher-Haghighi P, Bedeschi M, Ajmone P, Iascone M, Peeters H, Ballon K, Jaeken J, Rodríguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen M, Beysen D, Kooy R, Houlden H, Murphy D, Doosti M, Karimiani E, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A, , Gelb B, Kurth I, Hempel M, Kutsche K
BRAIN. 2020;143(8):2437-2453.

Genotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care
Stark V, Hensen F, Kutsche K, Kortüm F, Olfe J, Wiegand P, von Kodolitsch Y, Kozlik-Feldmann R, Müller G, Mir T
GENES-BASEL. 2020;11(7):1-15.

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Wang H, Humbatova A, Liu Y, Qin W, Lee M, Cesarato N, Kortüm F, Kumar S, Romano M, Dai S, Mo R, Sivalingam S, Motameny S, Wu Y, Wang X, Niu X, Geng S, Bornholdt D, Kroisel P, Tadini G, Walter S, Hauck F, Girisha K, Calza A, Bottani A, Altmüller J, Buness A, Yang S, Sun X, Ma L, Kutsche K, Grzeschik K, Betz R, Lin Z
AM J HUM GENET. 2020;107(1):34-45.

Das Mikrodeletionssyndrom 20q11–q12: Fallbericht über ein seltenes, aber rekurrentes Mikrodeletionssyndrom
Weiss D, Kortüm F, Driemeyer J, Kloth K
MONATSSCHR KINDERH. 2020.

Single-channel properties of skeletal muscle ryanodine receptor pore Δ⁴⁹²³FF⁴⁹²⁴ in two brothers with a lethal form of fetal akinesia
Xu L, Harms F, Chirasani V, Pasek D, Kortüm F, Meinecke P, Dokholyan N, Kutsche K, Meissner G
CELL CALCIUM. 2020;87:102182.

2019

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca²⁺-Activated K⁺ Channel SK3 Cause Zimmermann-Laband Syndrome
Bauer C, Schneeberger P, Kortüm F, Altmüller J, Santos-Simarro F, Baker L, Keller-Ramey J, White S, Campeau P, Gripp K, Kutsche K
AM J HUM GENET. 2019;104(6):1139-1157.

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities
Karaca E, Posey J, Bostwick B, Liu P, Gezdirici A, Yesil G, Coban Akdemir Z, Bayram Y, Harms F, Meinecke P, Alawi M, Bacino C, Sutton V, Kortüm F, Lupski J
AM J MED GENET A. 2019;179(10):2056-2066.

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies
Knaus A, Kortüm F, Kleefstra T, Stray-Pedersen A, Đukić D, Murakami Y, Gerstner T, van Bokhoven H, Iqbal Z, Horn D, Kinoshita T, Hempel M, Krawitz P
AM J HUM GENET. 2019;105(2):395-402.

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.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
Verheije R, Kupchik G, Isidor B, Kroes H, Lynch S, Hawkes L, Hempel M, Gelb B, Ghoumid J, D'Amours G, Chandler K, Dubourg C, Loddo S, Tümer Z, Shaw-Smith C, Nizon M, Shevell M, Van Hoof E, Anyane-Yeboa K, Cerbone G, Clayton-Smith J, Cogné B, Corre P, Corveleyn A, De Borre M, Hjortshøj T, Fradin M, Gewillig M, Goldmuntz E, Hens G, Lemyre E, Journel H, Kini U, Kortüm F, Le Caignec C, Novelli A, Odent S, Petit F, Revah-Politi A, Stong N, Strom T, van Binsbergen E, Devriendt K, Breckpot J
EUR J HUM GENET. 2019;27(2):278-290.

2018

Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation
Danyel M, Kortüm F, Dathe K, Kutsche K, Horn D
AM J MED GENET A. 2018;176(4):992-996.

Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body
Harms F, Nampoothiri S, Kortüm F, Thomas J, Panicker V, Alawi M, Altmüller J, Yesodharan D, Kutsche K
BRIT J DERMATOL. 2018;179(5):1192-1194.

A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
Johannsen J, Kortüm F, Rosenberger G, Bokelmann K, Schirmer M, Denecke J, Santer R
NEUROGENETICS. 2018;19(3):151-156.

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
Knaus A, Pantel J, Pendziwiat M, Hajjir N, Zhao M, Hsieh T, Schubach M, Gurovich Y, Fleischer N, Jäger M, Köhler S, Muhle H, Korff C, Møller R, Bayat A, Calvas P, Chassaing N, Warren H, Skinner S, Louie R, Evers C, Bohn M, Christen H, van den Born M, Obersztyn E, Charzewska A, Endziniene M, Kortüm F, Brown N, Robinson P, Schelhaas H, Weber Y, Helbig I, Mundlos S, Horn D, Krawitz P
GENOME MED. 2018;10(1):3.

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
Kortüm F, Jamra R, Alawi M, Berry S, Borck G, Helbig K, Tang S, Huhle D, Korenke G, Hebbar M, Shukla A, Girisha K, Steinlin M, Waldmeier-Wilhelm S, Montomoli M, Guerrini R, Lemke J, Kutsche K
EUR J HUM GENET. 2018;26(5):695-708.

2017

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism
Harms F, Girisha K, Hardigan A, Kortüm F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird L, Ceulemans S, Bebin M, Bowling K, Hiatt S, Lose E, Primiano M, Chung W, Juusola J, Akdemir Z, Bainbridge M, Charng W, Drummond-Borg M, Eldomery M, El-Hattab A, Saleh M, Bézieau S, Cogné B, Isidor B, Küry S, Lupski J, Myers R, Cooper G, Kutsche K
AM J HUM GENET. 2017;100(1):117-127.

Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype
Kortüm F, Marquardt I, Alawi M, Korenke G, Spranger S, Meinecke P, Kutsche K
PEDIATRICS. 2017;139(1):pii: e20160550.

2016

A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene
Girisha K, Kortüm F, Shah H, Alawi M, Dalal A, Bhavani G, Kutsche K
EUR J HUM GENET. 2016;24(8):1206-10.

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.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
Shashi V, Pena L, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin H, Cho M, Stong N, Hickey S, Shuss C, , Freemark M, Bellet J, Keels M, Bonner M, El-Dairi M, Butler M, Kranz P, Stumpel C, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki M, Hoischen A, Need A, Goldstein D, Kortüm F
AM J HUM GENET. 2016;99(4):991-999.

Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis
Vogel M, Velleuer E, Schmidt-Jiménez L, Mayatepek E, Borkhardt A, Alawi M, Kutsche K, Kortüm F
AM J MED GENET A. 2016;170(7):1813-9.

2015

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome
Abdollahpour H, Alawi M, Kortüm F, Beckstette M, Seemanova E, Komárek V, Rosenberger G, Kutsche K
EUR J HUM GENET. 2015;23(2):256-259.

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
Kortüm F, Caputo V, Bauer C, Stella L, Ciolfi A, Alawi M, Bocchinfuso G, Flex E, Paolacci S, Dentici M, Grammatico P, Korenke G, Leuzzi V, Mowat D, Nair L, Nguyen T, Thierry P, White S, Dallapiccola B, Pizzuti A, Campeau P, Tartaglia M, Kutsche K
NAT GENET. 2015;47(6):661-7.

αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor
Kortüm F, Harms F, Hennighausen N, Rosenberger G
PLOS ONE. 2015;10(7):e0132737.

2014

Exom-Sequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome: Erfahrungen aus Hamburg
Kortüm F, Abdollahpour H, Alawi M, Korenke G, Seemanova E, Tinschert S, Zenker M, Rosenberger G, Kutsche K
MED GENET-BERLIN. 2014;26:246-254.

Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8
Schmidt T, Bierhals T, Kortüm F, Bartels I, Liehr T, Burfeind P, Shoukier M, Frank V, Bergmann C, Kutsche K
CYTOGENET GENOME RES. 2014;142(1):1-6.

Letzte Aktualisierung aus dem FIS: 23.12.2024 - 23:36 Uhr