Department of Genetics

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#	Title	Journal	Year	Citations
1	Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling	Nature Genetics	2014	490
2	The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome	Nature Genetics	2007	442
3	Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders	Brain	2017	426
4	Mutation screening of thePTEN gene in patients with autism spectrum disorders and macrocephaly	American Journal of Medical Genetics Part B: Neuropsychiatric Genetics	2007	248
5	Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype phenotype relationships and overlap with Costello syndrome	Journal of Medical Genetics	2007	221
6	An intragenic ERG deletion is a marker of an oncogenic subtype of B-cell precursor acute lymphoblastic leukemia with a favorable outcome despite frequent IKZF1 deletions	Leukemia	2014	133
7	ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism	Brain	2017	105
8	Inheritance of arterial lesions in renal fibromuscular dysplasia	Journal of Human Hypertension	2007	99
9	Update of variants identified in the pancreatic β‐cell K _ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes	Human Mutation	2020	90
10	Mechanisms of coronary complications after the arterial switch for transposition of the great arteries	Journal of Thoracic and Cardiovascular Surgery	2013	89
11	IKZF1 deletion is an independent prognostic marker in childhood B-cell precursor acute lymphoblastic leukemia, and distinguishes patients benefiting from pulses during maintenance therapy: results of the EORTC Children's Leukemia Group study 58951	Leukemia	2015	88
12	A review of craniofacial disorders caused by spliceosomal defects	Clinical Genetics	2015	85
13	Safety and Accuracy of 64-Slice Computed Tomography Coronary Angiography in Children After the Arterial Switch Operation for Transposition of the Great Arteries	JACC: Cardiovascular Imaging	2008	83
14	Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)	Journal of Experimental Medicine	2012	83
15	Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation	Developmental Medicine and Child Neurology	2015	78
16	Determinants of CD19-positive vs CD19-negative relapse after tisagenlecleucel for B-cell acute lymphoblastic leukemia	Leukemia	2021	77
17	Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5	Brain	2018	67
18	Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU	Human Genetics	2017	66
19	NEK1andDYNC2H1are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases	Journal of Medical Genetics	2012	57
20	Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients	Journal of Neuromuscular Diseases	2016	57
21	Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function	Journal of Clinical Investigation	2019	54
22	Adams-Oliver syndrome and hepatoportal sclerosis: Occasional association or common mechanism?	American Journal of Medical Genetics, Part A	2005	52
23	RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome	American Journal of Medical Genetics, Part A	2010	51
24	A large-scale mutation search reveals genetic heterogeneity in 3M syndrome	European Journal of Human Genetics	2009	48
25	Haematological determinants of cardiac involvement in adults with sickle cell disease	European Heart Journal	2016	45
26	Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused byCLDN19gene mutations	Journal of Medical Genetics	2017	45
27	Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?	Molecular Autism	2013	43
28	Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients withGNASEpimutations Underlies a Complex and Different Mechanism of Multilocus Methylation Defect in Pseudohypoparathyroidism Type 1b	Human Mutation	2013	43
29	Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis	BMC Medicine	2019	41
30	Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine	Nature Communications	2021	41
31	Distinctive genotypes in infants with T‐cell acute lymphoblastic leukaemia	British Journal of Haematology	2015	40
32	Characterization of Recessive Parkinson Disease in a Large Multicenter Study	Annals of Neurology	2020	40
33	Severe Attacks of Familial Hemiplegic Migraine, Childhood Epilepsy and ATP1A2 Mutation	Cephalalgia	2008	39
34	SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects	Nature Communications	2018	39
35	Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother	European Journal of Human Genetics	2012	38
36	Retinal and renal complications in patients with a mutation of mitochondrial DNA at position 3,243 (maternally inherited diabetes and deafness). A case–control study	Diabetologia	2008	37
37	Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy	Nature Communications	2020	35
38	Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3	European Journal of Paediatric Neurology	2019	33
39	Lessons learned from 40 novel PIGA patients and a review of the literature	Epilepsia	2020	32
40	De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome	Genetics in Medicine	2020	31
41	PAX2 mutations in fetal renal hypodysplasia	American Journal of Medical Genetics, Part A	2010	30
42	Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?	Clinical Genetics	2010	30
43	Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance	Journal of Clinical Immunology	2021	30
44	Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder	Molecular Autism	2015	29
45	Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene	Acta Neuropathologica Communications	2017	29
46	Cisvariants identified in F508del complex alleles modulate CFTR channel rescue by small molecules	Human Mutation	2018	28
47	Specific Genomic Alterations in High-Grade Pulmonary Neuroendocrine Tumours with Carcinoid Morphology	Neuroendocrinology	2021	28
48	Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder	Nature Communications	2021	28
49	The Diagnostic and Prognostic Performance of Urinary FGFR3 Mutation Analysis in Bladder Cancer Surveillance: A Prospective Multicenter Study	Urology	2015	27
50	Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes	American Journal of Human Genetics	2019	27

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