Resources & publications
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2020Journal (source)Nat CommunADAR1 mediated regulation of neural crest derived melanocytes and Schwann cel...
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2024Journal (source)Sci Rep
Next generation phenotyping for diagnosis and phenotype-genotype correlations...
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2024Journal (source)Clin Genet
Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.
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2024Journal (source)Nat Commun
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with n...
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Journal (source)Cold Spring Harbor Laboratory
TUBB4B variants specifically impact ciliary function, causing a ciliopathic s...
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2023Journal (source)medRxiv
TUBB4B variants specifically impact ciliary function, causing a ciliopathic s...
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Journal (source)Cold Spring Harbor Laboratory
medRxiv
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Journal (source)Cold Spring Harbor Laboratory
medRxiv
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2020Journal (source)Brain
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofa...
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2020Journal (source)Genet Med
Phenotypic spectrum and transcriptomic profile associated with germline varia...
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2021Journal (source)J Clin Invest
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with g...
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2021Journal (source)Nat Commun
Impaired eIF5A function causes a Mendelian disorder that is partially rescued...
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2021Journal (source)Am J Hum Genet
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellec...
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2021Journal (source)Nat Commun
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
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2009Journal (source)Hum Mutat
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotyp...
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2014Journal (source)Hum Mutat
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesyl...
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2017Journal (source)Nat. Genet.
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and a...
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2020Journal (source)Stem Cell Res
Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 mis...
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2018Journal (source)Nat Commun
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med...
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2018Journal (source)Nat Commun
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med...
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2018Journal (source)Nat Commun.
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta med...
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2017Journal (source)Am. J. Hum. Genet.
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
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2019Journal (source)Brain
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofa...
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2008Journal (source)Nature
Somatic and germline activating mutations of the ALK kinase receptor in neuro...
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2009Journal (source)Nat. Genet.
Highly conserved non-coding elements on either side of SOX9 associated with P...
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Epistasis between RET and BBS mutations modulates enteric innervation and cau...
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2011Journal (source)Nat. Genet.
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects...
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2013Journal (source)J. Med. Genet.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
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2014Journal (source)Am. J. Hum. Genet.
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and domin...
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2015Journal (source)Am. J. Hum. Genet.
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis ...
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2016Journal (source)Nat. Genet.
MMP21 is mutated in human heterotaxy and is required for normal left-right as...
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2017Journal (source)Am. J. Hum. Genet.
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.