2024

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].

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.

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.

Klimawandel und Kindergesundheit – Ein Aufruf zum Handeln: Statement des Netzwerks #gemeinsamstarkfürkinder
Lorenz S, Krey I, Harms F, Freiseis A, Schmid F, Pokora R, Stamos K, Kohlfürst D, Albertowski A
MONATSSCHR KINDERH. 2023;171:63–71.

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.

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

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.

Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus
Melo U, Piard J, Fischer-Zirnsak B, Klever M, Schöpflin R, Mensah M, Holtgrewe M, Arbez-Gindre F, Martin A, Guigue V, Gaillard D, Landais E, Roze V, Kremer V, Ramanah R, Cabrol C, Harms F, Kornak U, Spielmann M, Mundlos S, Van Maldergem L
HUM GENET. 2021;140(10):1459-1469.

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.

Functional analysis of CASK transcript variants expressed in human brain.
Tibbe D, Pan Y, Reißner C, Harms F, Kreienkamp H
PLOS ONE. 2021;16(6):e0253223.

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.

Combined in-vitro and in-silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta
Danyukova T, Ludwig N, Velho R, Harms F, Güneş N, Tidow H, Schwartz I, Tüysüz B, Pohl S
HUM MUTAT. 2020;41(1):133-139.

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.

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.

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

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.

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.

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

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.

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.

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.

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

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.

2015

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.

Letzte Aktualisierung aus dem FIS: 24.12.2024 - 03:50 Uhr