PubRank

Alain Verloes

Author PubWeight™ 120.64‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet 2006 3.69
2 BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet 2006 2.68
3 Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet 2011 2.52
4 Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet 2006 2.44
5 WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nat Genet 2010 2.40
6 CHARGE syndrome: an update. Eur J Hum Genet 2007 2.03
7 Specific genetic disorders and autism: clinical contribution towards their identification. J Autism Dev Disord 2005 2.03
8 The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. J Med Genet 2007 2.02
9 Elements of morphology: standard terminology for the lips, mouth, and oral region. Am J Med Genet A 2009 1.96
10 Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet 2004 1.94
11 Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet 2007 1.89
12 Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet 2002 1.88
13 Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. Nat Genet 2013 1.87
14 Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. J Med Genet 2012 1.79
15 Many roads lead to primary autosomal recessive microcephaly. Prog Neurobiol 2009 1.78
16 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet 2012 1.70
17 Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. Am J Med Genet B Neuropsychiatr Genet 2007 1.65
18 The mutation spectrum in RECQL4 diseases. Eur J Hum Genet 2008 1.61
19 The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders. Eur J Med Genet 2008 1.52
20 Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. Eur J Med Genet 2011 1.48
21 Orofaciodigital syndrome with cerebral dysgenesis. Am J Med Genet A 2006 1.45
22 Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. Am J Med Genet A 2009 1.44
23 Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13. Circulation 2004 1.44
24 MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Hum Mutat 2009 1.43
25 Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. Cell Rep 2012 1.43
26 Should chromosome breakage studies be performed in patients with VACTERL association? Am J Med Genet A 2005 1.42
27 Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet 2012 1.41
28 Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. Biol Psychiatry 2009 1.32
29 Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiol 2013 1.31
30 Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly. J Med Genet 2012 1.30
31 Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet 2005 1.28
32 Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A 2007 1.22
33 Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. Neurology 2009 1.19
34 Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Am J Med Genet A 2007 1.18
35 Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet A 2005 1.17
36 BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet 2009 1.15
37 Familial abdominal aortic aneurysms: collection of 233 multiplex families. J Vasc Surg 2003 1.12
38 Nicolaides-Baraitser syndrome: Delineation of the phenotype. Am J Med Genet A 2009 1.11
39 Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). Eur J Pediatr 2003 1.11
40 The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene. Pediatrics 2007 1.11
41 Craniosynostosis: A rare complication of pycnodysostosis. Eur J Med Genet 2010 1.10
42 Cardio-facio-cutaneous syndrome: does genotype predict phenotype? Am J Med Genet C Semin Med Genet 2011 1.08
43 Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. Hum Mutat 2010 1.08
44 Microcephaly. Handb Clin Neurol 2013 1.05
45 Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients. Eur J Med Genet 2010 1.04
46 Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series. Eur J Med Genet 2009 1.02
47 SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions. Eur J Hum Genet 2009 1.01
48 Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. Hum Mol Genet 2003 0.99
49 Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review. Am J Med Genet A 2009 0.98
50 The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement. Eur J Med Genet 2008 0.98
51 The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2). Hum Genet 2010 0.97
52 Clinical utility gene card for: Rothmund-Thomson syndrome. Eur J Hum Genet 2012 0.96
53 CEMARA: a Web dynamic application within a N-tier architecture for rare diseases. Stud Health Technol Inform 2008 0.96
54 Dysmorphology and the orbital region: a practical clinical approach. Surv Ophthalmol 2004 0.95
55 Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother. Eur J Hum Genet 2012 0.94
56 Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. Am J Med Genet A 2014 0.94
57 Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion. Eur J Hum Genet 2005 0.94
58 BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. J Hum Genet 2005 0.93
59 Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. Am J Med Genet A 2013 0.93
60 Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Hum Mutat 2012 0.93
61 Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype. PLoS One 2012 0.93
62 CEMARA an information system for rare diseases. Stud Health Technol Inform 2010 0.90
63 Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals. Clin Dysmorphol 2003 0.90
64 Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)? Am J Med Genet A 2005 0.89
65 Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia. Eur J Hum Genet 2011 0.89
66 Circadian rhythm disorder in a rare disease: Smith-Magenis syndrome. Mol Cell Endocrinol 2006 0.89
67 Spectrum of epilepsy in terminal 1p36 deletion syndrome. Epilepsia 2007 0.89
68 Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies. Eur J Hum Genet 2012 0.88
69 Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia. Am J Med Genet A 2012 0.88
70 Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome. Eur J Hum Genet 2005 0.88
71 CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. Am J Med Genet A 2007 0.88
72 Diaphanospondylodysostosis (DSD): confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis. Am J Med Genet A 2005 0.86
73 Temple-Baraitser syndrome: a rare and possibly unrecognized condition. Am J Med Genet A 2010 0.86
74 Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome. Am J Med Genet A 2010 0.86
75 Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene. Am J Med Genet A 2012 0.85
76 Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. Eur J Med Genet 2010 0.85
77 Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature. Am J Med Genet C Semin Med Genet 2013 0.85
78 Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. Am J Hum Genet 2010 0.84
79 A familial syndromal form of omphalocele. Eur J Med Genet 2011 0.83
80 Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome. J Med Genet 2010 0.83
81 Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome. J Hum Genet 2008 0.83
82 The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients. Eur J Cancer 2013 0.82
83 De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability. Am J Med Genet A 2014 0.82
84 Aphallia, lung agenesis and multiple defects of blastogenesis. Fetal Pediatr Pathol 2011 0.82
85 Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. Nat Genet 2015 0.82
86 Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients. Hum Mutat 2014 0.81
87 VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling. J Clin Invest 2011 0.81
88 Clinical utility gene card for: WAGR syndrome. Eur J Hum Genet 2011 0.81
89 A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region. Eur J Hum Genet 2006 0.81
90 MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation. Am J Med Genet A 2003 0.80
91 Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation. Am J Med Genet A 2014 0.80
92 A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone. J Clin Endocrinol Metab 2004 0.80
93 Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis. Am J Med Genet A 2010 0.79
94 Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins. Am J Med Genet A 2005 0.79
95 Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome. Am J Med Genet A 2008 0.79
96 Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia. Eur J Hum Genet 2008 0.79
97 Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome. Mol Autism 2013 0.78
98 Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: follow-up study documents progressive clinical course. Am J Med Genet A 2009 0.78
99 Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10. Am J Med Genet A 2014 0.78
100 Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review. Am J Med Genet A 2003 0.78
101 A long-term competent chimeric immune system in a dizygotic dichorionic twin. Pediatrics 2011 0.77
102 Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines). Am J Med Genet A 2012 0.76
103 Clinical utility gene card for: CHARGE syndrome. Eur J Hum Genet 2011 0.75
104 Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly. Am J Med Genet A 2010 0.75
105 Case 31-2006: a girl with severe obesity. N Engl J Med 2007 0.75
106 New autosomal recessive syndrome with short stature and facio-auriculo-thoracic malformations. Am J Med Genet A 2004 0.75
107 Pseudoaminopterin syndrome. Am J Med Genet A 2012 0.75
108 Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation. Eur J Pediatr 2010 0.75
109 Abnormal muscle development of the diaphragm in a fetus with 2p14-p16 duplication. Am J Med Genet A 2009 0.75
110 Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family. Am J Med Genet A 2007 0.75
111 CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature. Eur J Hum Genet 2003 0.75
112 A new lysosomal storage disorder resembling Morquio syndrome in sibs. Eur J Med Genet 2012 0.75
113 Severely delayed epiphyseal ossification dysplasia with normal stature. Am J Med Genet A 2003 0.75
114 Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet 2017 0.75
115 Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency. Am J Med Genet A 2010 0.75
116 Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication. Am J Med Genet A 2012 0.75
117 Diffuse cortical atrophy in a patient with Turner syndrome and Leber hereditary optic neuropathy. J Neurol 2005 0.75
118 Neuropathic visceral dysmotility, brain cysts and calcifications, facial dysmorphism and developmental delay in two sibs. A new syndrome? Eur J Med Genet 2005 0.75
119 A congenital left ventricular diverticulum combined with a complex malformation syndrome. Acta Cardiol 2003 0.75
120 Polyvalvular heart disease with joint hypermobility, characteristic facies, and particular skin abnormalities: new cases of "polyvalvular heart disease syndrome" or new association? Eur J Med Genet 2009 0.75
121 A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria. Am J Med Genet A 2005 0.75
122 A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features. Eur J Med Genet 2013 0.75