PubRank

Albert David

Author PubWeight™ 95.16‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet 2004 5.15
2 Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet 2011 2.61
3 Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 2011 2.59
4 Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet 2005 2.40
5 Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene. J Clin Endocrinol Metab 2002 2.13
6 Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome. Am J Med Genet A 2014 2.02
7 A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet 2009 1.80
8 High risk of malignancy in mosaic variegated aneuploidy syndrome. Am J Med Genet 2002 1.72
9 Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am J Hum Genet 2013 1.70
10 SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet 2006 1.69
11 A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A 2015 1.60
12 Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney Int 2008 1.58
13 Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis 2011 1.57
14 High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet 2013 1.50
15 Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders. Hum Mol Genet 2009 1.45
16 Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. Am J Med Genet 2002 1.45
17 Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nat Genet 2008 1.45
18 Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Am J Hum Genet 2010 1.40
19 TCTN3 mutations cause Mohr-Majewski syndrome. Am J Hum Genet 2012 1.29
20 Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. Am J Med Genet A 2006 1.25
21 A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia. Mov Disord 2014 1.22
22 Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. Am J Hum Genet 2010 1.21
23 Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation. Eur J Med Genet 2010 1.21
24 Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. Am J Med Genet A 2012 1.21
25 GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients. Arch Otolaryngol Head Neck Surg 2005 1.19
26 Non-USH2A mutations in USH2 patients. Hum Mutat 2012 1.17
27 Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations. Breast Cancer Res 2010 1.14
28 Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases. Am J Med Genet A 2005 1.12
29 Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). Eur J Pediatr 2003 1.11
30 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
31 Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Hum Mutat 2011 1.06
32 OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels. Hum Mutat 2010 1.06
33 Four-year follow-up of diagnostic service in USH1 patients. Invest Ophthalmol Vis Sci 2011 1.03
34 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
35 Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome. Hum Mutat 2007 1.01
36 Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations. Am J Med Genet A 2004 1.01
37 Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9. Am J Med Genet A 2009 1.01
38 Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. Mol Genet Metab 2013 1.00
39 The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients. Eur J Hum Genet 2012 0.97
40 Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2. Hum Mutat 2011 0.96
41 Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia. Am J Med Genet A 2010 0.96
42 Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis. Hum Mutat 2006 0.95
43 Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. Am J Med Genet A 2014 0.94
44 The buccohypophyseal canal is an ancestral vertebrate trait maintained by modulation in sonic hedgehog signaling. BMC Biol 2013 0.93
45 Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nat Genet 2013 0.93
46 12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech. Eur J Hum Genet 2012 0.92
47 Inherited ring chromosome 8 without loss of subtelomeric sequences. Ann Genet 2004 0.91
48 Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. J Med Genet 2013 0.90
49 Hajdu-Cheney syndrome and syringomyelia. Case report. J Neurosurg 2002 0.90
50 Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling. Eur J Med Genet 2011 0.89
51 Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: a new patient presenting with normal growth. Am J Med Genet A 2007 0.89
52 Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct. Int J Pediatr Otorhinolaryngol 2010 0.89
53 Congenital heart defects in patients with deletions upstream of SOX9. Hum Mutat 2013 0.87
54 A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff-Parkinson-White syndrome. Eur J Med Genet 2008 0.87
55 Familial frameshift SRY mutation inherited from a mosaic father with testicular dysgenesis syndrome. J Clin Endocrinol Metab 2009 0.86
56 5q12.1 deletion: delineation of a phenotype including mental retardation and ocular defects. Am J Med Genet A 2011 0.86
57 Atypical male and female presentations of FLNA-related periventricular nodular heterotopia. Eur J Med Genet 2012 0.85
58 Prenatal diagnosis of a 'minor' form of Brachmann-de Lange syndrome by three-dimensional sonography and three-dimensional computed tomography. Fetal Diagn Ther 2004 0.85
59 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
60 Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy. Am J Med Genet A 2010 0.84
61 Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome. Am J Med Genet A 2013 0.84
62 Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. Am J Hum Genet 2010 0.84
63 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
64 Complete sex reversal in a WAGR syndrome patient. Am J Med Genet A 2007 0.82
65 Hereditary pancreatitis in children: surgical implications with special regard to genetic background. J Pediatr Surg 2009 0.81
66 46,XY gonadal dysgenesis: evidence for autosomal dominant transmission in a large kindred. Am J Med Genet A 2003 0.80
67 MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation. Am J Med Genet A 2003 0.80
68 Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome. J Pediatr Surg 2006 0.80
69 Discovery of a large deletion of KAL1 in 2 deaf brothers. Otol Neurotol 2013 0.80
70 Complex constitutional subtelomeric 1p36.3 deletion/duplication in a mentally retarded child with neonatal neuroblastoma. Eur J Med Genet 2008 0.79
71 CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders. J Med Genet 2013 0.79
72 Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature. Am J Med Genet A 2014 0.79
73 Multiple capillary skin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of the distal phalanges: report of a new case and further delineation of a new syndrome. Am J Med Genet A 2011 0.78
74 Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity. Hum Mutat 2012 0.78
75 Disruption of the SEMA3D gene in a patient with congenital heart defects. Hum Mutat 2014 0.78
76 Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas. Eur J Hum Genet 2012 0.78
77 Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: follow-up study documents progressive clinical course. Am J Med Genet A 2009 0.78
78 Cone-rod dystrophy, growth hormone deficiency and spondyloepiphyseal dysplasia: report of a new case without nephronophtisis. Am J Med Genet A 2009 0.78
79 Expanding the Spectrum of PMM2-CDG Phenotype. JIMD Rep 2011 0.78
80 Homozygous PTEN deletion in neuroblastoma arising in a child with Cowden syndrome. Am J Med Genet A 2011 0.76
81 Genochondromatosis type II: report of a new patient and further delineation of the phenotype. Am J Med Genet A 2007 0.76
82 Five patients with novel overlapping interstitial deletions in 8q22.2q22.3. Am J Med Genet A 2011 0.76
83 Autosomal insertional translocation mimicking an X-linked mode of inheritance. Eur J Med Genet 2012 0.76
84 Three independent mutations in the TSC2 gene in a family with tuberous sclerosis. Eur J Hum Genet 2009 0.76
85 Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis. Am J Med Genet A 2004 0.76
86 Inherited 18q23 duplication in a fetus with multiple congenital anomalies. Eur J Med Genet 2008 0.75
87 46,XY pure gonadal dysgenesis: clinical presentations and management of the tumor risk. J Pediatr Urol 2010 0.75
88 Progressive polyepiphyseal dysplasia with arthropathy: a distinct disorder from idiopathic juvenile arthritis and pseudorheumatoid dysplasia? Am J Med Genet A 2012 0.75
89 Constitutional telomeric association (Y;7) in a patient with a female phenotype. Am J Med Genet A 2013 0.75
90 Role of preoperative basal calcitonin levels in the timing of prophylactic thyroidectomy in patients with germline RET mutations. World J Surg 2014 0.75
91 Palmo-Plantar hyperkeratosis, intellectual disability, and spastic paraplegia in two maternal half brothers: further evidence for an X-linked inheritance. Am J Med Genet A 2013 0.75
92 Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome? Am J Med Genet A 2013 0.75
93 Maculopathy and spinocerebellar ataxia type 1: a new association? J Neuroophthalmol 2013 0.75
94 A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization. Am J Med Genet A 2013 0.75