Anne M Slavotinek

Anne M Slavotinek

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Anne M Slavotinek

Publications by authors named "Anne M Slavotinek"

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Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.

Am J Med Genet A 2019 Nov 29;179(11):2190-2195. Epub 2019 Aug 29.

Institute for Human Genetics, University of California San Francisco, San Francisco, California.

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http://dx.doi.org/10.1002/ajmg.a.61344DOI Listing
November 2019

Introducing in AJMG Part A: Genetic Syndromes in Adults.

Am J Med Genet A 2019 Aug 26;179(8):1413-1414. Epub 2019 Mar 26.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.61141DOI Listing
August 2019

Case Report of Floating-Harbor Syndrome With Bilateral Cleft Lip.

Cleft Palate Craniofac J 2019 Jun 27:1055665619858257. Epub 2019 Jun 27.

1 Program in Craniofacial Biology and Division of Craniofacial Anomalies, Department of Orofacial Sciences, University of California, San Francisco, CA, USA.

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http://dx.doi.org/10.1177/1055665619858257DOI Listing
June 2019

Private payer coverage policies for exome sequencing (ES) in pediatric patients: trends over time and analysis of evidence cited.

Genet Med 2019 01 12;21(1):152-160. Epub 2018 Jul 12.

University of California at San Francisco, Department of Clinical Pharmacy; Center for Translational and Policy Research on Personalized Medicine (TRANSPERS); UCSF Philip R. Lee Institute for Health Policy; and UCSF Helen Diller Family Comprehensive Cancer Center, San Francisco, California, USA.

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http://dx.doi.org/10.1038/s41436-018-0043-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6329652PMC
January 2019

Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes.

Am J Med Genet A 2018 12 31;176(12):2877-2881. Epub 2018 Oct 31.

Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California.

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http://doi.wiley.com/10.1002/ajmg.a.40641
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http://dx.doi.org/10.1002/ajmg.a.40641DOI Listing
December 2018

PHENOTYPIC HETEROGENEITY IN A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH PREVENTION OF VISUAL LOSS IN AN AFFECTED MALE CHILD WITH LASER TREATMENT IN INFANCY.

Retin Cases Brief Rep 2018 Aug 1. Epub 2018 Aug 1.

Ophthalmology Department, University of California School of Medicine, San Francisco, Koret Vision Research Center, San Francisco, California.

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http://dx.doi.org/10.1097/ICB.0000000000000796DOI Listing
August 2018

Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1.

Ophthalmic Genet 2017 12 2;38(6):559-561. Epub 2017 Mar 2.

a Department of Ophthalmology , University of California , San Francisco, San Francisco , California , USA.

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http://dx.doi.org/10.1080/13816810.2017.1290118DOI Listing
December 2017

Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae.

Am J Med Genet A 2017 Nov 28;173(11):3075-3081. Epub 2017 Sep 28.

Division of Genetics, Department of Pediatrics, University of California, San Francisco, California.

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http://dx.doi.org/10.1002/ajmg.a.38382DOI Listing
November 2017

Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract.

PLoS One 2017 21;12(8):e0183438. Epub 2017 Aug 21.

Department of Ophthalmology, University of California, San Francisco School of Medicine, San Francisco, CA, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0183438PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5565107PMC
October 2017

Pregnancy and Birth Outcomes among Women with Idiopathic Thrombocytopenic Purpura.

J Pregnancy 2016 22;2016:8297407. Epub 2016 Mar 22.

Epidemiology, OptumInsight, Waltham, MA 02451, USA; Department of Medicine, Division of Pharmacoeconomics and Pharmacoepidemiology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA 02120, USA.

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http://dx.doi.org/10.1155/2016/8297407DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4820621PMC
December 2016

The Family of Crumbs Genes and Human Disease.

Mol Syndromol 2016 Oct 18;7(5):274-281. Epub 2016 Aug 18.

Department of Pediatrics, UCSF School of Medicine, University of California San Francisco, San Francisco, Calif., USA.

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http://dx.doi.org/10.1159/000448109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5109986PMC
October 2016

Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome.

Am J Med Genet A 2015 Nov 14;167A(11):2767-76. Epub 2015 Jul 14.

Division of Genetics, Department of Pediatrics, University of California, San Francisco, California.

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http://dx.doi.org/10.1002/ajmg.a.37249DOI Listing
November 2015

DLX4 is associated with orofacial clefting and abnormal jaw development.

Hum Mol Genet 2015 Aug 7;24(15):4340-52. Epub 2015 May 7.

Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94143, USA, Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA,

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http://dx.doi.org/10.1093/hmg/ddv167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4492397PMC
August 2015

The FgfrL1 receptor is required for development of slow muscle fibers.

Dev Biol 2014 Oct 27;394(2):228-41. Epub 2014 Aug 27.

Department of Clinical Research, University of Bern, 3010 Bern, Switzerland; Department of Rheumatology, University Hospital, 3010 Bern, Switzerland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00121606140040
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http://dx.doi.org/10.1016/j.ydbio.2014.08.016DOI Listing
October 2014

The genetics of common disorders - congenital diaphragmatic hernia.

Eur J Med Genet 2014 Aug 2;57(8):418-23. Epub 2014 May 2.

Department of Pediatrics, Division of Genetics, University of California, MSC 2711, Rock Hall Room RH384D, 1550 4th St, San Francisco, CA 94143-2711, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.04.012DOI Listing
August 2014

Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL).

Am J Med Genet A 2014 Aug 12;164A(8):2079-83. Epub 2014 May 12.

Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California.

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http://doi.wiley.com/10.1002/ajmg.a.36590
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http://dx.doi.org/10.1002/ajmg.a.36590DOI Listing
August 2014

De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.

Am J Med Genet A 2014 Jul 16;164A(7):1744-9. Epub 2014 May 16.

Department of Pediatrics and Institute for Human Genetics, University of California, San Francisco, San Francisco, California.

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http://dx.doi.org/10.1002/ajmg.a.36450DOI Listing
July 2014

Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue.

Am J Med Genet A 2013 Mar 11;161A(3):619-25. Epub 2013 Feb 11.

Division of Genetics, Department of Pediatrics, University of California, San Francisco, California 94143-0748, USA.

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http://dx.doi.org/10.1002/ajmg.a.35792DOI Listing
March 2013

2p16.3 microdeletion with partial deletion of the neurexin-1 gene in a female with developmental delays, short stature, and a congenital diaphragmatic hernia.

Clin Dysmorphol 2013 Jan;22(1):22-4

Department of Pediatrics, Division of Genetics, University of California, San Francisco, CA 94143-0748, USA.

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http://dx.doi.org/10.1097/MCD.0b013e32835b8df2DOI Listing
January 2013

Intraparenchymal hemorrhage in a neonate with cleidocranial dysostosis.

Pediatr Neurol 2012 Dec;47(6):455-7

Department of Neurology, University of California at San Francisco, San Francisco, California, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.08.009DOI Listing
December 2012

Special Section. Syndrome-specific growth charts.

Am J Med Genet A 2012 Nov 4;158A(11):2645-6. Epub 2012 Oct 4.

Department of Medical Genetics and Pediatrics, University of British Columbia and BC Children's Hospital Vancouver, British Columbia, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.35704
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http://dx.doi.org/10.1002/ajmg.a.35704DOI Listing
November 2012

A much needed new journal in the field of Pediatric Genetics.

J Pediatr Genet 2012 Mar;1(1):1-2

Department of Pediatrics, Division of Genetics, University of California, San Francisco, CA, USA.

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http://dx.doi.org/10.3233/PGE-2012-001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020911PMC
March 2012

Eye development genes and known syndromes.

Mol Genet Metab 2011 Dec 29;104(4):448-56. Epub 2011 Sep 29.

Department of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, CA 94143-0748, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192110034
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http://dx.doi.org/10.1016/j.ymgme.2011.09.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3224152PMC
December 2011

Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.

BMC Med Genet 2011 Dec 28;12:172. Epub 2011 Dec 28.

Department of Pediatrics, Division of Genetics, University of California, San Francisco, 533 Parnassus St, Room U585P, San Francisco, CA 94143-0748 USA.

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http://dx.doi.org/10.1186/1471-2350-12-172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3262754PMC
December 2011

Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2.

Am J Med Genet A 2011 Nov 30;155A(11):2816-20. Epub 2011 Sep 30.

Department of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, California 94143-0748, USA.

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http://dx.doi.org/10.1002/ajmg.a.34247DOI Listing
November 2011

A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation.

Am J Med Genet A 2011 May 7;155A(5):1196-201. Epub 2011 Apr 7.

Division of Genetics, Department of Pediatrics, University of California, San Francisco, 94143-0748, USA.

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http://dx.doi.org/10.1002/ajmg.a.34002DOI Listing
May 2011

Expanded spectrum of oculo-auriculo-vertebral spectrum with imperforate anus in a male patient who is negative for SALL1 mutations.

Clin Dysmorphol 2011 Jan;20(1):11-4

Department of Pediatrics, Division of Clinical Genetics, University of California, San Francisco, California 94143-0748, USA.

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http://dx.doi.org/10.1097/mcd.0b013e32833f138cDOI Listing
January 2011

Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2.

Am J Med Genet A 2010 Dec;152A(12):3120-3

Division of Genetics, Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, Pennsylvania 19141, USA.

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http://dx.doi.org/10.1002/ajmg.a.33492DOI Listing
December 2010

Hypodontia in Beare-Stevenson syndrome: an example of dental anomalies in FGFR-related craniosynostosis syndromes.

Cleft Palate Craniofac J 2010 May;47(3):253-8

UCSF School of Dentistry, San Francisco, California, USA.

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http://journals.sagepub.com/doi/10.1597/08-282.1
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http://dx.doi.org/10.1597/08-282.1DOI Listing
May 2010

Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: phenocopy for Fryns syndrome or broad spectrum of teratogenic effects?

Am J Med Genet A 2009 Jun;149A(6):1237-40

Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, Washington 98105, USA.

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http://dx.doi.org/10.1002/ajmg.a.32684DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2692642PMC
June 2009

Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation.

Am J Med Genet A 2008 Sep;146A(18):2337-45

Department of Pediatrics, Division of Genetics, UCSF School of Medicine, San Francisco, California 94143-0748, USA.

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http://dx.doi.org/10.1002/ajmg.a.32368DOI Listing
September 2008

Novel microdeletion syndromes detected by chromosome microarrays.

Hum Genet 2008 Aug 30;124(1):1-17. Epub 2008 May 30.

Department of Pediatrics, Division of Genetics, University of California, San Francisco, Box 0748, 533 Parnassus St., Room U585P, San Francisco, CA, 94143-0748, USA.

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http://dx.doi.org/10.1007/s00439-008-0513-9DOI Listing
August 2008

Population-based analysis of left- and right-sided diaphragmatic hernias demonstrates different frequencies of selected additional anomalies.

Am J Med Genet A 2007 Dec;143A(24):3127-36

Department of Pediatrics, Division of Genetics, University of California, San Francisco, California, USA.

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http://doi.wiley.com/10.1002/ajmg.a.32100
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http://dx.doi.org/10.1002/ajmg.a.32100DOI Listing
December 2007

Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination.

Hum Mol Genet 2007 Jul 21;16(14):1773-82. Epub 2007 May 21.

Academic Unit of Medical Genetics and Regional Genetic Service, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1093/hmg/ddm125DOI Listing
July 2007

Single gene disorders associated with congenital diaphragmatic hernia.

Am J Med Genet C Semin Med Genet 2007 May;145C(2):172-83

Department of Pediatrics, University of California, San Francisco, CA 94143-0748, USA.

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http://doi.wiley.com/10.1002/ajmg.c.30125
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http://dx.doi.org/10.1002/ajmg.c.30125DOI Listing
May 2007

Oculo-ectodermal syndrome: is arachnoid cyst a common finding?

Clin Dysmorphol 2007 Jan;16(1):35-8

Division of Genetics, Department of Pediatrics, University of California, San Francisco, CA 94143-0748, USA.

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http://dx.doi.org/10.1097/MCD.0b013e328010b7f9DOI Listing
January 2007

Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.

Eur J Hum Genet 2006 Sep 31;14(9):999-1008. Epub 2006 May 31.

Department of Pediatrics, Division of Genetics, University of California, San Francisco, Room U585P, 533 Parnassus St, San Francisco, CA 94143-0748, USA.

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http://dx.doi.org/10.1038/sj.ejhg.5201652DOI Listing
September 2006

Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells?

Am J Med Genet A 2005 Dec;139(3):186-93

Teratology Unit, Pediatric Service, MassGeneral Hospital for Children, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1002/ajmg.a.31023DOI Listing
December 2005

Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63.

Am J Med Genet A 2005 Oct;138A(2):146-9

Department of Pediatrics, University of California, San Francisco 94143-0748, USA.

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http://dx.doi.org/10.1002/ajmg.a.30900DOI Listing
October 2005

Case reports of oculofaciocardiodental syndrome with unusual dental findings.

Am J Med Genet A 2005 Jul;136(3):275-7

University of California, San Francisco, Center for Craniofacial Anomalies, San Francisco, California 94122, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30811
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http://dx.doi.org/10.1002/ajmg.a.30811DOI Listing
July 2005

Fryns syndrome with osteochondrodysplasia.

Am J Med Genet A 2005 May;134(4):454-6

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http://dx.doi.org/10.1002/ajmg.a.30351DOI Listing
May 2005

The genetics of congenital diaphragmatic hernia.

Semin Perinatol 2005 Apr;29(2):77-85

Department of Pediatrics, University of California, San Francisco, CA 94143-0748, USA.

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http://dx.doi.org/10.1053/j.semperi.2005.04.003DOI Listing
April 2005

A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?

Am J Med Genet A 2004 Aug;129A(1):69-72

Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30071
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http://dx.doi.org/10.1002/ajmg.a.30071DOI Listing
August 2004

Fryns syndrome: a review of the phenotype and diagnostic guidelines.

Am J Med Genet A 2004 Feb;124A(4):427-33

Division of Genetics, Department of Pediatrics, University of California-San Francisco, 533 Parnassus Street, San Francisco, CA 94143-0748, USA.

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http://dx.doi.org/10.1002/ajmg.a.20381DOI Listing
February 2004

Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent-1 segregants.

Am J Med Genet A 2004 Jan;124A(2):118-28

Department of Pediatrics, Georgetown University Medical Center, Washington, DC, USA.

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http://dx.doi.org/10.1002/ajmg.a.20332DOI Listing
January 2004

A female infant with duplication of chromosome 2q33 to 2q37.3.

Clin Dysmorphol 2003 Oct;12(4):251-6

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4472, USA.

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http://dx.doi.org/10.1097/00019605-200310000-00008DOI Listing
October 2003

Non-syndromic hemihyperplasia in a male and his mother.

Am J Med Genet A 2003 Aug;121A(1):47-51

Department of Pediatrics, U.C.S.F., Room U585P, 531 Parnassus Street, San Francisco, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.10177DOI Listing
August 2003

Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndrome.

Am J Med Genet 2002 Jul;110(3):283-8

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4472, USA.

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http://dx.doi.org/10.1002/ajmg.10455DOI Listing
July 2002