Alain Verloes


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Person Info

NAME

Alain

SURNAME

Verloes

Publications in SciGraph latest 50 shown

  • 2019-04 Duplication of 10q24 locus: broadening the clinical and radiological spectrum in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-11 Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-07 Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-05 MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype in NEUROGENETICS
  • 2018-01 HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-12 A framework to identify contributing genes in patients with Phelan-McDermid syndrome in NPJ GENOMIC MEDICINE
  • 2017-09 Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing in GENETICS IN MEDICINE
  • 2017-05 Infantile systemic hyalinosis: a report of two new cases, one with prolonged survival in EUROPEAN JOURNAL OF DERMATOLOGY
  • 2017-04 Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU in HUMAN GENETICS
  • 2017-02 SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome in NATURE GENETICS
  • 2016-12 Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities in ORPHANET JOURNAL OF RARE DISEASES
  • 2016-08 Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-01 Treacher Collins syndrome: a clinical and molecular study based on a large series of patients in GENETICS IN MEDICINE
  • 2015-12 Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder in MOLECULAR AUTISM
  • 2015-12 Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency in ORPHANET JOURNAL OF RARE DISEASES
  • 2015-10 Clinical utility gene card for: CHARGE syndrome - update 2015 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-03 Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-03 Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy in NATURE GENETICS
  • 2015-01 Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy in NATURE GENETICS
  • 2014-11 Myhre and LAPS syndromes: clinical and molecular review of 32 patients in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-02 Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-01 Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-12 Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome in MOLECULAR AUTISM
  • 2013-07 Clinical utility gene card for: Rothmund–Thomson syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-02 The development of a clinical screening tool for tumour predisposition syndromes in childhood cancer patients in TIJDSCHRIFT VOOR KINDERGENEESKUNDE
  • 2012-05 Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2012-05 Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2012-05 Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2012-04 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome in NATURE GENETICS
  • 2012-01 Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome in NATURE GENETICS
  • 2011-09 Clinical utility gene card for: CHARGE syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-05 Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-04 Clinical utility gene card for: WAGR syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-01 Dyggve–Melchior–Clausen syndrome: novel splice mutation with atlanto-axial subluxation in EUROPEAN JOURNAL OF PEDIATRICS
  • 2010-11 WDR62 is associated with the spindle pole and is mutated in human microcephaly in NATURE GENETICS
  • 2010-07 The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2) in HUMAN GENETICS
  • 2010-05 Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease in HUMAN GENETICS
  • 2009-10 BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2009-10 SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2009-02 The mutation spectrum in RECQL4 diseases in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2009 CEMARA: une plate-forme Web pour les maladies rares in RISQUES, TECHNOLOGIES DE L’INFORMATION POUR LES PRATIQUES MÉDICALES
  • 2008-09 Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome in JOURNAL OF HUMAN GENETICS
  • 2008-06 Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2007-04 CHARGE syndrome: an update in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2006-08 A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2006-03 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome in NATURE GENETICS
  • 2006-01 BBS8 is rarely mutated in a cohort of 128 Bardet–Biedl syndrome families in JOURNAL OF HUMAN GENETICS
  • 2005-05 Failure to detect an 8p22–8p23.1 duplication in patients with Kabuki (Niikawa–Kuroki) syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2005-05 Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2005-04 Combination of WAGR and Potocki–Shaffer contiguous deletion syndromes in a patient with an 11p11.2–p14 deletion in EUROPEAN JOURNAL OF HUMAN GENETICS
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