Dian Donnai

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Publications in SciGraph latest 50 shown

  • 2017-12 Dysmorphology and the ESHG in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-02 Prevalence and architecture of de novo mutations in developmental disorders in NATURE
  • 2016-07 NANS-mediated synthesis of sialic acid is required for brain and skeletal development in NATURE GENETICS
  • 2014-11 Myhre and LAPS syndromes: clinical and molecular review of 32 patients in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2012-07 What can be offered to couples at (possibly) increased genetic risk? in JOURNAL OF COMMUNITY GENETICS
  • 2012-04 How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-01 Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-10 Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-10 DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes in ORPHANET JOURNAL OF RARE DISEASES
  • 2009-04 Dhavendra Kumar (ed): Genomics and clinical medicine in HUMAN GENETICS
  • 2009-04 Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2009-01 Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis in NATURE GENETICS
  • 2008-12 What process attributes of clinical genetics services could maximise patient benefits? in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2007-08 Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes in NATURE GENETICS
  • 2007-02 Improving Service Evaluation in Clinical Genetics: Identifying Effects of Genetic Diseases on Individuals and Families in JOURNAL OF GENETIC COUNSELING
  • 2006-12 Orphanet Journal of Rare Diseases: Launch Editorial in ORPHANET JOURNAL OF RARE DISEASES
  • 2006-05 Williams–Beuren Syndrome: More or less? Segmental duplications and deletions in the Williams–Beuren syndrome region provide new insights into language development in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2005-05 COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2004-07 Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams–Beuren syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2004-05 Professor Robin Michael Winter: 1950–2004. An appreciation in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2004-04 Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR in NATURE GENETICS
  • 2003-06 Mutations in PAX1 may be associated with Klippel–Feil syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2002-10 A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved in HUMAN GENETICS
  • 2002-05 A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects in HUMAN GENETICS
  • 2000-12 Elastin: mutational spectrum in supravalvular aortic stenosis in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 1999-10 A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 1997-09 Mutations in CDMP1 cause autosomal dominant brachydactyly type C in NATURE GENETICS
  • 1997-07 Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly in HUMAN GENETICS
  • 1996-07 LIM–kinase deleted in Williams syndrome in NATURE GENETICS
  • 1994-07 Dysmorphic disorders — An overview in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1993-08 A missense mutation confirms the L1 defect in X–linked hydrocephalus (HSAS) in NATURE GENETICS
  • 1991 Counselling After Prenatal Diagnosis in ANTENATAL DIAGNOSIS OF FETAL ABNORMALITIES
  • 1991 Conclusions and Recommendations in ANTENATAL DIAGNOSIS OF FETAL ABNORMALITIES
  • 1988-01 Chronic pancreatitis, HLA and autoimmunity in JOURNAL OF GASTROINTESTINAL CANCER
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