2024

Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology
Aagaard Nolting L, Holling T, Nishimura G, Ek J, Bak M, Ljungberg M, Kutsche K, Hove H
CLIN GENET. 2024;106(3):360-366.

Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome
Bonde L, Abdelrazek I, Seif L, Alawi M, Matrawy K, Nabil K, Abdalla E, Kutsche K, Harms F
J HUM GENET. 2024 [Epub ahead of print].

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].

Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth
Harms F, Rexach J, Efthymiou S, Aynekin B, Per H, Güleç A, Nampoothiri S, Sampaio H, Sachdev R, Stoeva R, Myers K, Pena L, Kalfa T, Chard M, Klassen M, Pries M, Kutsche K
EUR J HUM GENET. 2024;32(5):558-566.

Complex structural variation and nonsense variant in trans cause VPS50-related disorder
Hecher L, Gorski-Alberts E, Begemann M, Herwig J, Lausberg E, Hillebrand G, Volk A, Kurth I, Kraft F, Kutsche K
J MED GENET. 2024;61(9):833-838.

A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia
Holling T, Abdelrazek I, Elhady G, Abd Elmaksoud M, Ryu S, Abdalla E, Kutsche K
J HUM GENET. 2024;69(12):623-628.

Intrinsic cardiomyopathy in pediatric Marfan syndrome: predictive factors and risk assessments
Kneußel J, Olfe J, Stark V, von Kodolitsch Y, Kozlik-Feldmann R, Friehs I, Kutsche K, Hübler M, Mir T, Diaz-Gil D
PEDIATR RES. 2024 [Epub ahead of print].

2023

Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature
Abdelrazek I, Holling T, Harms F, Alawi M, Omar T, Abdalla E, Kutsche K
EUR J MED GENET. 2023;66(3):104715.

Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency
Block J, Rashkova C, Castanon I, Zoghi S, Platon J, Ardy R, Fujiwara M, Chaves B, Schoppmeyer R, van der Made C, Jimenez Heredia R, Harms F, Alavi S, Alsina L, Sanchez Moreno P, Ávila Polo R, Cabrera-Pérez R, Kostel Bal S, Pfajfer L, Ransmayr B, Mautner A, Kondo R, Tinnacher A, Caldera M, Schuster M, Domínguez Conde C, Platzer R, Salzer E, Boyer T, Brunner H, Nooitgedagt-Frons J, Iglesias E, Deyà-Martinez A, Camacho-Lovillo M, Menche J, Bock C, Huppa J, Pickl W, Distel M, Yoder J, Traver D, Engelhardt K, Linden T, Kager L, Hannich J, Hoischen A, Hambleton S, Illsinger S, Da Costa L, Kutsche K, Chavoshzadeh Z, van Buul J, Antón J, Calzada-Hernández J, Neth O, Viaud J, Nishikimi A, Dupré L, Boztug K
NEW ENGL J MED. 2023;389(6):527-539.

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, Alkuraya F, Baglioni V, Bagnasco I, Becmeur-Lefebvre M, Bertini E, Borggraefe I, Brischoux-Boucher E, Bruel A, Brusco A, Bubshait D, Cabrol C, Cilio M, Cornet M, Coubes C, Danhaive O, Delague V, Denommé-Pichon A, Di Giacomo M, Doco-Fenzy M, Engels H, Cremer K, Gérard M, Gleeson J, Heron D, Goffeney J, Guimier A, Harms F, Houlden H, Iacomino M, Kaiyrzhanov R, Kamien B, Karimiani E, Kraus D, Kuentz P, Kutsche K, Lederer D, Massingham L, Mignot C, Morris-Rosendahl D, Nagarajan L, Odent S, Ormières C, Partlow J, Pasquier L, Penney L, Philippe C, Piccolo G, Poulton C, Putoux A, Rio M, Rougeot C, Salpietro V, Scheffer I, Schneider A, Srivastava S, Straussberg R, Striano P, Valente E, Venot P, Villard L, Vitobello A, Wagner J, Wagner M, Zaki M, Zara F, Lesca G, Yassaee V, Miryounesi M, Hashemi-Gorji F, Beiraghi M, Ashrafzadeh F, Galehdari H, Walsh C, Novelli A, Tacke M, Sadykova D, Maidyrov Y, Koneev K, Shashkin C, Capra V, Zamani M, Van Maldergem L, Burglen L, Piard J
EUR J HUM GENET. 2023;31(9):1023-1031.

de novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
Harms F, Dingemans A, Hempel M, Pfundt R, Bierhals T, Casar C, Müller C, Niermeijer J, Fischer J, Jahn A, Hübner C, Majore S, Agolini E, Novelli A, van der Smagt J, Ernst R, van Binsbergen E, Mancini G, van Slegtenhorst M, Barakat T, Wakeling E, Kamath A, Downie L, Pais L, White S, de Vries B, Kutsche K
GENET MED. 2023;25(10):100927.

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

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

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.

2022

Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype
Abdalla E, Alawi M, Meinecke P, Kutsche K, Harms F
AM J MED GENET A. 2022;188(8):2448-2453.

Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel
Bauer C, Holling T, Horn D, Laço M, Abdalla E, Omar O, Alawi M, Kutsche K
INT J MOL SCI. 2022;23(17):.

Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy
Dahimene S, von Elsner L, Holling T, Mattas L, Pickard J, Lessel D, Pilch K, Kadurin I, Pratt W, Zhulin I, Dai H, Hempel M, Ruzhnikov M, Kutsche K, Dolphin A
BRAIN. 2022;145(8):2721-2729.

A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia
Holling T, Bhavani G, von Elsner L, Shah H, Kausthubham N, Bhattacharyya S, Shukla A, Mortier G, Schinke T, Danyukova T, Pohl S, Kutsche K, Girisha K
HUM MUTAT. 2022;43(5):625-642.

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

Novel biallelic variants expand the SLC5A6-related phenotypic spectrum
Holling T, Nampoothiri S, Tarhan B, Schneeberger P, Vinayan K, Yesodharan D, Roy A, Radhakrishnan P, Alawi M, Rhodes L, Girisha K, Kang P, Kutsche K
EUR J HUM GENET. 2022;30(4):439-449.

Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain
Tibbe D, Ferle P, Krisp C, Nampoothiri S, Mirzaa G, Assaf M, Parikh S, Kutsche K, Kreienkamp H
LIFE SCI ALLIANCE. 2022;5(10):.

Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation
von Elsner L, Chai G, Schneeberger P, Harms F, Casar C, Qi M, Alawi M, Abdel-Salam G, Zaki M, Arndt F, Yang X, Stanley V, Hempel M, Gleeson J, Kutsche K
BRAIN. 2022;145(4):1551-1563.

2021

Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
Di Lorenzo G, Westermann L, Schinke T, Stürznickel J, Ludwig N, Ammer L, Baranowsky A, Ahmadi S, Pourbarkhordariesfandabadi E, Breyer S, Board T, Foster A, Mercer J, Tylee K, Velho R, Schweizer M, Renné T, Braulke T, Randon D, Sperb-Ludwig F, de Camargo Pinto L, Moreno C, Cavalcanti D, Amling M, Kutsche K, Winter D, Muschol N, Schwartz I, Rolvien T, Danyukova T, Schinke T, Pohl S
GENET MED. 2021;23(12):2369-2377.

CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders
El Ghaleb Y, Schneeberger P, Fernández-Quintero M, Geisler S, Pelizzari S, Polstra A, van Hagen J, Denecke J, Campiglio M, Liedl K, Stevens C, Person R, Rentas S, Marsh E, Conlin L, Tuluc P, Kutsche K, Flucher B
BRAIN. 2021;144(7):2092-2106.

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies
Gripp K, Smithson S, Scurr I, Baptista J, Majumdar A, Pierre G, Williams M, Henderson L, Wentzensen I, McLaughlin H, Leeuwen L, Simon M, van Binsbergen E, Dinulos M, Kaplan J, McRae A, Superti-Furga A, Good J, Kutsche K
EUR J HUM GENET. 2021;29(9):1384-1395.

Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2
Kloth K, Neu A, Rau I, Hülsemann W, Kutsche K, Volk A
EUR J MED GENET. 2021;64(3):.

MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency
Knapp K, Jenkins D, Sullivan R, Harms F, von Elsner L, Ockeloen C, de Munnik S, Bongers E, Murray J, Pachter N, Denecke J, Kutsche K, Bicknell L
EUR J HUM GENET. 2021;29(7):1110-1120.

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
Lissewski C, Chune V, Pantaleoni F, De Luca A, Capri Y, Brinkmann J, Lepri F, Daniele P, Leenders E, Mazzanti L, Scarano E, Radio F, Kutsche K, Kuechler A, Gérard M, Ranguin K, Legendre M, Vial Y, van der Burgt I, Rinne T, Andreucci E, Mastromoro G, Digilio M, Cave H, Tartaglia M, Zenker M
EUR J HUM GENET. 2021;29(1):51-60.

EBF3 Neurodevelopmental Disorder
Narayanan D, Kutsche K, Girisha K
2021. GeneReviews®. 1. ed. Seattle: University of Washington, Seattle, 1-9.

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):.

Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization
Pan Y, Tibbe D, Harms F, Reißner C, Becker K, Dingmann B, Mirzaa G, Kattentidt-Mouravieva A, Shoukier M, Aggarwal S, Missler M, Kutsche K, Kreienkamp H
J NEUROCHEM. 2021;157(4):1331-1350.

Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis
Schneeberger P, Nampoothiri S, Holling T, Yesodharan D, Alawi M, Knisely A, Müller T, Plecko B, Janecke A, Kutsche K
BRAIN. 2021;2021(awab206):.

Das Marfan-Syndrom als genetisch bedingte Aortenerkrankung
von Kodolitsch Y, Schüler H, Kutsche K, Vogler M, Szöcs K
Herzblatt. 2021;2021(1):10-13.

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation
Ziegler A, Duclaux-Loras R, Revenu C, Charbit-Henrion F, Begue B, Duroure K, Grimaud L, Guihot A, Desquiret-Dumas V, Zarhrate M, Cagnard N, Mas E, Breton A, Edouard T, Billon C, Frank M, Colin E, Lenaers G, Henrion D, Lyonnet S, Faivre L, Alembik Y, Philippe A, Moulin B, Reinstein E, Tzur S, Attali R, McGillivray G, White S, Gallacher L, Kutsche K, Schneeberger P, Girisha K, Nayak S, Pais L, Maroofian R, Rad A, Vona B, Karimiani E, Lekszas C, Haaf T, Martin L, Ruemmele F, Bonneau D, Cerf-Bensussan N, Del Bene F, Parlato M
AM J HUM GENET. 2021;108(6):1126-1137.

2020

Microphthalmia with linear skin defects syndrome associated with hypopigmented mosaic lesions and ptosis: two siblings from Africa
Chateau A, Kutsche K, Fuchs S, Harms F, Kruse C, Mosam A
INT J DERMATOL. 2020;59(7):864-866.

A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions
Coste de Bagneaux P, von Elsner L, Bierhals T, Campiglio M, Johannsen J, Obermair G, Hempel M, Flucher B, Kutsche K
PLOS GENET. 2020;16(3):e1008625.

Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth
Harms F, Parthasarathy P, Zorndt D, Alawi M, Fuchs S, Halliday B, McKeown C, Sampaio H, Radhakrishnan N, Radhakrishnan S, Gorce M, Navet B, Ziegler A, Sachdev R, Robertson S, Nampoothiri S, Kutsche K
HUM MUTAT. 2020;41(9):1645-1661.

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.

A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration
Polovitskaya M, Barbini C, Martinelli D, Harms F, Cole F, Calligari P, Bocchinfuso G, Stella L, Ciolfi A, Niceta M, Rizza T, Shinawi M, Sisco K, Johannsen J, Denecke J, Carrozzo R, Wegner D, Kutsche K, Tartaglia M, Jentsch T
AM J HUM GENET. 2020;107(6):1062-1077.

Fragmented Elastic Fibers in Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome) Without Focal Dermal Hypoplasia: Report of a Male Case and Review of the Literature
Rohdenburg C, Liersch J, Kutsche K, Schaller J
AM J DERMATOPATH. 2020;42(9):653-661.

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.

Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2
Schneeberger P, Nayak S, Fuchs S, Kutsche K, Girisha K
AM J MED GENET A. 2020;182(11):2793-2796.

Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities
Schneeberger P, von Elsner L, Barker E, Meinecke P, Marquardt I, Alawi M, Steindl K, Joset P, Rauch A, Zwijnenburg P, Weiss M, Merry C, Kutsche K
AM J HUM GENET. 2020;107(6):1044-1061.

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.

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.

The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
Girisha K, von Elsner L, Neethukrishna K, Muranjan M, Shukla A, Bhavani G, Nishimura G, Kutsche K, Mortier G
HUM MUTAT. 2019;40(3):299-309.

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype
Kloth K, Bierhals T, Johannsen J, Harms F, Juusola J, Johnson M, Grange D, Kutsche K
HUM GENET. 2019;138(6):625-634.

Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome
Mühlstädt K, De Backer J, von Kodolitsch Y, Kutsche K, Muiño Mosquera L, Brickwedel J, Girdauskas E, Mir T, Mahlmann A, Tsilimparis N, Staebler A, Schoof L, Seidel H, Berger J, Bernhardt A, Blankenberg S, Kölbel T, Detter C, Szöcs K, Kaemmerer H
J CLIN MED. 2019;8(12):.

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.

de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation
Schneeberger P, Bierhals T, Neu A, Hempel M, Kutsche K
SCI REP-UK. 2019;9(1):12516.

P539 - Case-control study of cardiovascular outcome of Loeys-Dietz versus Marfan syndrome
Szöcs K, Mühlstädt K, De Backer J, Girdauskas E, Kutsche K, Blankenberg S, von Kodolitsch Y
CLIN RES CARDIOL. 2019;2019(108 Supl 2):.

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta and type III gamma: Update on GNPTAB and GNPTG mutations
Velho R, Harms F, Danyukova T, Ludwig N, Friez M, Cathey S, Filocamo M, Tappino B, Güneş N, Tüysüz B, Tylee K, Brammeier K, Heptinstall L, Oussoren E, van der Ploeg A, Petersen C, Alves S, Saavedra G, Schwartz I, Muschol N, Kutsche K, Pohl S
HUM MUTAT. 2019;40(7):842-864.

2018

Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants
Bierhals T, Korenke G, Baethmann M, Marín L, Staudt M, Kutsche K
EUR J MED GENET. 2018;61(6):329-334.

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.

The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor
Harms F, Alawi M, Amor D, Tan T, Cuturilo G, Lissewski C, Brinkmann J, Schanze D, Kutsche K, Zenker M
AM J MED GENET A. 2018;176(2):470-476.

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
Harms F, Kloth K, Bley A, Denecke J, Santer R, Lessel D, Hempel M, Kutsche K
AM J HUM GENET. 2018;103(4):579-591.

Elsahy-Waters syndrome is caused by biallelic mutations in CDH11
Harms F, Nampoothiri S, Anazi S, Yesodharan D, Alawi M, Kutsche K, Alkuraya F
AM J MED GENET A. 2018;176(2):477-482.

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.

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.

RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1
Meyer Zum Büschenfelde U, Brandenstein L, von Elsner L, Flato K, Holling T, Zenker M, Rosenberger G, Kutsche K
PLOS GENET. 2018;14(5):e1007370.

Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation
Piard J, Essien Umanah G, Harms F, Abalde-Atristain L, Amram D, Chang M, Chen R, Alawi M, Salpietro V, Rees M, Chung S, Houlden H, Verloes A, Dawson T, Dawson V, Van Maldergem L, Kutsche K
BRAIN. 2018;141(6):e50.

A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy
Piard J, Umanah G, Harms F, Abalde-Atristain L, Amram D, Chang M, Chen R, Alawi M, Salpietro V, Rees M, Chung S, Houlden H, Verloes A, Dawson T, Dawson V, Van Maldergem L, Kutsche K
BRAIN. 2018;141(3):651-661.

Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum
Yesodharan D, Büschenfelde U, Kutsche K, Mohandas Nair K, Nampoothiri S
INDIAN J PEDIATR. 2018;85(12):1067-1072.

2017

Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases
Groth K, Kodolitsch Y, Kutsche K, Gaustadnes M, Thorsen K, Andersen N, Gravholt C
GENET MED. 2017;19(7):772-777.

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.

Genetic diagnostics of inherited aortic diseases: Medical strategy analysis
Kodolitsch Y, Kutsche K
HERZ. 2017;42(5):459-467.

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.

Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern
Podolska A, Kobelt A, Fuchs S, Hackmann K, Rump A, Schröck E, Kutsche K, Di Donato N
AM J MED GENET A. 2017;173(5):1334-1341.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy
Syrbe S, Harms F, Parrini E, Montomoli M, Mütze U, Helbig K, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne H, Hoffmann G, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke G, Kuechler A, Lämmer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek N, Møller R, Koeleman B, Matsumoto N, Dobyns W, Battaglia D, Lemke J, Kutsche K, Guerrini R
BRAIN. 2017;140(9):2322-2336.

2016

Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients
Girisha K, Bidchol A, Graul-Neumann L, Gupta A, Hehr U, Lessel D, Nader S, Shah H, Wickert J, Kutsche K
BMC MED GENET. 2016;17:27.

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.

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
Kouz K, Lissewski C, Spranger S, Mitter D, Riess A, Lopez-Gonzalez V, Lüttgen S, Aydin H, von Deimling F, Evers C, Hahn A, Hempel M, Issa U, Kahlert A, Lieb A, Villavicencio-Lorini P, Ballesta-Martinez M, Nampoothiri S, Ovens-Raeder A, Puchmajerová A, Satanovskij R, Seidel H, Unkelbach S, Zabel B, Kutsche K, Zenker M
GENET MED. 2016;18(12):1226-1234.

Vererbung und Genetische Tests
Kutsche K
2016. Das Marfan-Syndrom. M (eds.). 1. ed. Springer, 47-56.

Mitral valve prolapse syndrome and MASS phenotype: Stability of aortic dilatation but progression of mitral valve prolapse
Rippe M, De Backer J, Kutsche K, Mosquera L, Schüler H, Rybczynski M, Bernhardt A, Keyser B, Hillebrand M, Mir T, Berger J, Blankenberg S, Koschyk D, von Kodolitsch Y
IJC HEART VASC. 2016;10:39–46.

Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome
Shukla A, Hebbar M, Harms F, Kadavigere R, Girisha K, Kutsche K
AM J MED GENET A. 2016;170(11):2998-3003.

Clinical and genetic diagnosis of Marfan syndrome in childhood are Equal- FBN1 mutation should not influence handling of pediatric patients with confirmed Marfansyndrome
Stark V, Arndt F, Harring G, Keyser B, von Kodolitsch Y, Kozlik-Feldmann R, Kutsche K, Müller G, Rybczynski M, Mir T
J Integr Cardiol. 2016.

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.

The role of the multidisciplinary health care team in the management of patients with Marfan syndrome
von Kodolitsch Y, Rybczynski M, Vogler M, Mir T, Schüler H, Kutsche K, Rosenberger G, Detter C, Bernhardt A, Larena-Avellaneda A, Kölbel T, Debus E, Schroeder M, Linke S, Fuisting B, Napp B, Kammal A, Püschel K, Bannas P, Hoffmann B, Gessler N, Vahle-Hinz E, Kahl-Nieke B, Thomalla G, Weiler-Normann C, Ohm G, Neumann S, Benninghoven D, Blankenberg S, Pyeritz R
J MULTIDISCIP HEALTH. 2016;9:587-614.

Response to Calgani et al
Zenker M, Kutsche K
GENET MED. 2016;18(12):1321.

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.

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes
Kratz C, Franke L, Peters H, Kohlschmidt N, Kazmierczak B, Finckh U, Bier A, Eichhorn B, Blank C, Kraus C, Kohlhase J, Pauli S, Wildhardt G, Kutsche K, Auber B, Christmann A, Bachmann N, Mitter D, Cremer F, Mayer K, Daumer-Haas C, Nevinny-Stickel-Hinzpeter C, Oeffner F, Schlüter G, Gencik M, Überlacker B, Lissewski C, Schanze I, Greene M, Spix C, Zenker M
BRIT J CANCER. 2015;112(8):1392-7.

Phenotypic and molecular insights into CASK-related disorders in males
Moog U, Bierhals T, Brand K, Bautsch J, Biskup S, Brune T, Denecke J, de Die-Smulders C, Evers C, Hempel M, Henneke M, Yntema H, Menten B, Pietz J, Pfundt R, Schmidtke J, Steinemann D, Stumpel C, Van Maldergem L, Kutsche K
ORPHANET J RARE DIS. 2015;10(1):44.

Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome
van Rahden V, Fernandez-Vizarra E, Alawi M, Brand K, Fellmann F, Horn D, Zeviani M, Kutsche K
AM J HUM GENET. 2015;96(4):640-50.

Structure-function-behavior relationship in estrogen-induced synaptic plasticity
Vierk R, Bayer J, Freitag S, Muhia M, Kutsche K, Wolbers T, Kneussel M, Sommer-Blöchl T, Rune G
HORM BEHAV. 2015;74:139-48.

Interpretation of sequence variants of the FBN1 gene analog or digital? A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants
von Kodolitsch Y, Kutsche K
J HUM GENET. 2015;60(9):465-466.

2014

Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome
Danda S, van Rahden V, John D, Paul P, Raju R, Koshy S, Kutsche K
MOL SYNDROMOL. 2014;5(5):251-6.

Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome
de Almeida H, Rossi G, de Abreu L, Bergamaschi C, da Silva A, Kutsche K
AN BRAS DERMATOL. 2014;89(1):180-1.

A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis
Girisha K, Abdollahpour H, Shah H, Bhavani G, Graham J, Boggula V, Phadke S, Kutsche K
AM J MED GENET A. 2014;164A(4):1035-40.

Total serum transforming growth factor-β1 is elevated in the entire spectrum of genetic aortic syndromes
Hillebrand M, Millot N, Sheikhzadeh S, Rybczynski M, Gerth S, Kölbel T, Keyser B, Kutsche K, Robinson P, Berger J, Mir T, Zeller T, Blankenberg S, Kodolitsch Y, Goldmann B
CLIN CARDIOL. 2014;37(11):672-679.

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.

Dural ectasia in Loeys-Dietz Syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation
Sheikhzadeh S, Brockstädt L, Habermann C, Sondermann C, Bannas P, Mir T, Staebler A, Seidel H, Keyser B, Arslan-Kirchner M, Kutsche K, Berger J, Blankenberg S, Kodolitsch Y
CLIN GENET. 2014;86(6):545-551.

Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation
Sheikhzadeh S, Sondermann C, Rybczynski M, Habermann C, Brockstädt L, Keyser B, Kaemmerer H, Mir T, Staebler A, Robinson P, Kutsche K, Berger J, Blankenberg S, Kodolitsch Y
CLIN GENET. 2014;86(3):238-245.

Clinical spectrum of females with HCCS Mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome
van Rahden V, Rau I, Fuchs S, Kosyna F, de Almeida H, Fryssira H, Isidor B, Jauch A, Joubert M, Lachmeijer A, Zweier C, Moog U, Kutsche K
ORPHANET J RARE DIS. 2014;9(1):53.

2013

Estrogen and the male hippocampus: genetic variation in the aromatase gene predicting serum estrogen is associated with hippocampal gray matter volume in men
Bayer J, Rune G, Kutsche K, Schwarze U, Kalisch R, Büchel C, Sommer-Blöchl T
HIPPOCAMPUS. 2013;23(2):117-21.

Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations
Bierhals T, Korenke G, Uyanik G, Kutsche K
EUR J MED GENET. 2013;56(6):325-30.

Expanding the phenotype associated with 17q12 duplication: case report and review of the literature
Bierhals T, Maddukuri S, Kutsche K, Girisha K
AM J MED GENET A. 2013;161A(2):352-9.

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition
Brownstein C, Towne M, Luquette L, Harris D, Marinakis N, Meinecke P, Kutsche K, Campeau P, Yu T, Margulies D, Agrawal P, Beggs A
EUR J MED GENET. 2013;56(12):678-82.

Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci
Chilian B, Abdollahpour H, Bierhals T, Haltrich I, Fekete G, Nagel I, Rosenberger G, Kutsche K
CLIN GENET. 2013;84(6):560-5.

Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome
Hüning I, Kutsche K, Rajaei S, Erlandsson A, Lovmar L, Rundberg J, Stefanova M
EUR J MED GENET. 2013;56(4):188-91.

A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm
Leutermann R, Sheikhzadeh S, Brockstädt L, Rybczynski M, van Rahden V, Kutsche K, Kodolitsch Y, Rosenberger G
EUR J HUM GENET. 2013;22:944-948.

CASK-Related Disorders
Moog U, Uyanik G, Kutsche K
GeneReviews®. 2013.

2012

Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.
Dalal A, Bhavani G, Lakshmi S, Bierhals T, Bierhals T, Nandineni M, Danda S, Danda D, Shah H, Vijayan S, Gowrishankar K, Phadke S, Bidchol A, Rao A, Kutsche K, Kutsche K, Girisha K
AM J MED GENET A. 2012;158A(11):2820-2828.

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.
Indrieri A, van Rahden V, Alexandra V, Tiranti V, Morleo M, Iaconis D, Tammaro R, D'Amato I, Conte I, Maystadt I, Demuth S, Kutsche K, Kutsche K, Zeviani M, Franco B
AM J HUM GENET. 2012;91(5):942-949.

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.
Kim H, Kim H, Leach N, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong I, Shen Y, Talkowski M, Ruderfer D, Lee J, Glotzbach C, Ha K, Kjaergaard S, Levin A, Romeike B, Kleefstra T, Bartsch O, Elsea S, Jabs E, MacDonald M, Harris D, Quade B, Ropers H, Shaffer L, Kutsche K, Layman L, Tommerup N, Kalscheuer V, Shi Y, Morton C, Kim C, Gusella J
AM J HUM GENET. 2012;91(1):56-72.

Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.
Lorenz S, Petersen C, Kordaß U, Seidel H, Zenker M, Kutsche K
EUR J MED GENET. 2012;55(11):615-619.

Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features.
Lozić B, Ljubković J, Pandurić D, Saltvig I, Kutsche K, Krželj V, Zemunik T
BRAZ J MED BIOL RES. 2012;45(12):1315-1319.

Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits.
Ramakers G, Wolfer D, Rosenberger G, Kuchenbecker K, Kreienkamp H, Prange-Kiel J, Rune G, Richter K, Langnaese K, Masneuf S, Bösl M, Fischer K, Krugers H, Lipp H, van Galen E, Kutsche K
HUM MOL GENET. 2012;21(2):268-286.

The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module.
van Rahden V, Brand K, Najm J, Heeren J, Heeren J, Braulke T, Kutsche K, Kutsche K
HUM MOL GENET. 2012;21(23):5019-5038.

Letzte Aktualisierung aus dem FIS: 22.12.2024 - 04:07 Uhr