Professor of Clinical Pediatrics, UCSF School of Medicine
Medical Genetics
Dr. Anne M. Slavotinek, MD
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Anne Slavotinek works in the field of Medical Genetics. Anne Slavotinek is a published doctor as well. She has 102 publications published. The latest was: Childhood vulval lichen sclerosus in a patient with ectodermal dysplasia and uncombable hair.
Publications
- Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome.
- Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
- Expanding the clinical spectrum associated with GLIS3 mutations.
- CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.
- Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.
- Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.
- The genetics of common disorders - Congenital diaphragmatic hernia.
- Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies.
- Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL).
- De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.
- ALDH1A3 Loss of Function Causes Bilateral Anophthalmia/Microphthalmia and Hypoplasia of the Optic Nerve and Optic Chiasm.
- Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue.
- Novel FREM1 mutations expand the phenotypic spectrum associated with manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (...
- 2p16.3 microdeletion with partial deletion of the neurexin-1 gene in a female with developmental delays, short stature, and a congenital diaphragmatic hernia.
- Intraparenchymal hemorrhage in a neonate with cleidocranial dysostosis.
- Congenital high airway obstruction sequence (CHAOS): A new case and a review of phenotypic features.
- Further clinical and molecular delineation of the 15q24 microdeletion syndrome.
- VAX1 mutation associated with microphthalmia, corpus callosum agenesis and orofacial clefting-the first description of a VAX1 phenotype in humans.
- Congenital diaphragmatic hernia in Smith-Magenis syndrome: A possible locus at chromosome 17p11.2.
- Eye development genes and known syndromes.
- A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation.
- Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
- Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2.
- Hypodontia in Beare-Stevenson syndrome: an example of dental anomalies in FGFR-related craniosynostosis syndromes.
- A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for th...
- Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: phenocopy for Fryns syndrome or broad spectrum of teratogenic effe...
- Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation.
- Population-based analysis of left- and right-sided diaphragmatic hernias demonstrates different frequencies of selected additional anomalies.
- Single gene disorders associated with congenital diaphragmatic hernia.
- Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells?
- Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63.
- Case reports of oculofaciocardiodental syndrome with unusual dental findings.
- Fryns syndrome with osteochondrodysplasia.
- The genetics of congenital diaphragmatic hernia.
- Fryns syndrome: report of eight new cases.
- A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?
- Fryns syndrome: a review of the phenotype and diagnostic guidelines.
- Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent-1 segregants.
- Non-syndromic hemihyperplasia in a male and his mother.
- Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndrome.
- A comparison of micronucleus frequency and radiation survival in lymphoblastoid cell lines.
- Micronuclei in neonatal lymphocytes treated with the topoisomerase II inhibitors amsacrine and etoposide.
- The frequency of micronuclei in bone-marrow erythroblasts during the treatment of childhood acute lymphoblastic leukaemia.
- Uniparental disomy.
- Prenatal diagnosis of familial type I choledochal cyst.
- Punctate calcification of the epiphyses, visceral malformations, and craniofacial dysmorphism in a female baby.
- Chromosome painting of radiation-induced micronuclei.
- Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2).
- Of brain and bone: the unusual case of Dr. A.
- Transverse limb defects, holoprosencephaly and neuronal heterotopia--a new syndrome?
- Childhood vulval lichen sclerosus in a patient with ectodermal dysplasia and uncombable hair.
- A boy with severe manifestations of type A1 brachydactyly.
- Atrioventricular block and wiry hair in Teebi hypertelorism syndrome.
- A girl with ectodermal dysplasia, choanal atresia and polysyndactyly.
- Marinesco-Sjögren syndrome in a male with mild dysmorphism.
- Monosomy 1p36.
- Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung h...
- Brachydactyly type B: case report and further evidence for clinical heterogeneity.
- ABCA12 is the major harlequin ichthyosis gene.
- Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.
- Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.
- Genetic modifiers in human development and malformation syndromes, including chaperone proteins.
- Two cases with interstitial deletions of chromosome 2 and sex reversal in one.
- Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband.
- Clinical utility gene card for: Bardet-Biedl syndrome.
- Interstitial deletion of bands 4q12-->q13.1: case report and review of proximal 4q deletions.
- Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.
- Familial patent ductus arteriosus: a further case of CHAR syndrome.
- Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia.
- Unilateral tibial aplasia, pre-axial polysyndactyly, vertebral anomalies and imperforate anus.
- Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome.
- A family with X-linked anophthalmia: exclusion of SOX3 as a candidate gene.
- Clinical features and management issues in Mowat-Wilson syndrome.
- Saethre-Chotzen syndrome: a case report.
- Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1.
- Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres.
- A male with unilateral microphthalmia reveals a role for TMX3 in eye development.
- Case report: Y;6 translocation with deletion of 6p.
- Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.
- The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3.
- A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia.
- Three infants of diabetic mothers with malformations of left-right asymmetry--further evidence for the aetiological role of diabetes in this malformation spectrum.
- Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation.
- Two unique patients with trisomy 18 mosaicism and molecular marker studies.
- Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.
- Craniofacial defects of blastogenesis: duplication of pituitary with cleft palate and orophgaryngeal tumors.
- Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.
- Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndr...
- Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.
- Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration.
- Subtypes of frontonasal dysplasia are useful in determining clinical prognosis.
- Cleft lip with or without cleft palate: frequency in different ethnic populations from the UCSF craniofacial clinic.
- Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia.
- Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients.
- KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria.
- Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies.
- ACTH receptor mutation in a girl with familial glucocorticoid deficiency.
- Interstitial deletion of band 3q25.
- Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome?
- Sudden death caused by pulmonary thromboembolism in Proteus syndrome.
- Genetic analysis of consanguineous families presenting with congenital ocular defects.
Schools
University Of Adelaide School Of Medicine Faculty Of Health Sciences
Doctors Specialties
- Clinical Genetics
- Medical Genetics
Accepted Insurances
Education
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National Institutes of Health Clinical Center -
The University of Adelaide Faculty of Health Sciences
Hospital
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San Francisco General Hospital and Trauma Center -
UCSF Medical Center
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