Margaret P Adam

Margaret P Adam

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Margaret P Adam

Margaret P Adam

Publications by authors named "Margaret P Adam"

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Kabuki syndrome: international consensus diagnostic criteria.

J Med Genet 2019 Feb 4;56(2):89-95. Epub 2018 Dec 4.

President, the Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido, Hokkaido, Japan.

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http://dx.doi.org/10.1136/jmedgenet-2018-105625DOI Listing
February 2019

Discordant sex between fetal screening and postnatal phenotype requires evaluation.

J Perinatol 2019 Jan 21;39(1):28-33. Epub 2018 Nov 21.

Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41372-018-0278-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340391PMC
January 2019

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Genet Med 2018 09 4;20(9):965-975. Epub 2018 Jan 4.

Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.

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http://www.nature.com/articles/gim2017221
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http://dx.doi.org/10.1038/gim.2017.221DOI Listing
September 2018

Is prenatal genomic testing ready for prime time?

Authors:
Margaret P Adam

Genet Med 2018 07;20(7):695-696

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/gim.2018.5DOI Listing
July 2018

Novel pregnancy-triggered episodes of CAPOS syndrome.

Am J Med Genet A 2018 01 1;176(1):235-240. Epub 2017 Nov 1.

Division of Medical Genetics, Department of Medicine, University of Washington Medical Center, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.38502DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726903PMC
January 2018

Emerging issues in disorders/differences of sex development (DSD).

Am J Med Genet C Semin Med Genet 2017 06 3;175(2):249-252. Epub 2017 Jun 3.

Departments of Human Genetics, Urology, and Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, California.

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http://dx.doi.org/10.1002/ajmg.c.31564DOI Listing
June 2017

Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.

Am J Med Genet A 2017 Jan 12;173(1):245-249. Epub 2016 Oct 12.

Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.37993DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5999866PMC
January 2017

Updated Clinical Guidelines for Diagnosing Fetal Alcohol Spectrum Disorders.

Pediatrics 2016 08 27;138(2). Epub 2016 Jul 27.

Sanford Research and Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls, South Dakota; Center on Alcoholism, Substance Abuse and Addictions, University of New Mexico, Albuquerque, New Mexico; Department of Nutrition, Gillings School of Global Public Health, Nutrition Research Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

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http://dx.doi.org/10.1542/peds.2015-4256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4960726PMC
August 2016

36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting.

Am J Med Genet A 2016 Jul 27;170(7):1665-726. Epub 2016 Apr 27.

Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.37600DOI Listing
July 2016

A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.

Am J Med Genet A 2015 Nov 18;167A(11):2691-6. Epub 2015 Jun 18.

Division of Genetic Medicine, Department of Pediatrics, University of Washington & Seattle Children's Hospital, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.37209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654953PMC
November 2015

Evaluation and diagnosis of the dysmorphic infant.

Clin Perinatol 2015 Jun;42(2):243-61, vii-viii

Division of Genetic Medicine, Department of Pediatrics, University of Washington, 4800 Sand Point Way Northeast, OC.9.850, Seattle, WA 98105, USA. Electronic address:

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http://dx.doi.org/10.1016/j.clp.2015.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4707958PMC
June 2015

A South African mixed race lip/philtrum guide for diagnosis of fetal alcohol spectrum disorders.

Am J Med Genet A 2015 Apr 25;167A(4):752-5. Epub 2015 Feb 25.

Sanford Research, Sioux Falls, South Dakota; Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls, South Dakota.

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http://dx.doi.org/10.1002/ajmg.a.37023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4507499PMC
April 2015

Exome sequencing for the diagnosis of 46,XY disorders of sex development.

J Clin Endocrinol Metab 2015 Feb 10;100(2):E333-44. Epub 2014 Nov 10.

Departments of Human Genetics (R.M.B., V.A.A., H.B., A.E., S.F.N., E.D., E.V.) and Pathology and Laboratory Medicine (V.A.A., H.L., S.F.N.), David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California 90095; Department of Pediatrics (M.P.A.), University of Washington, Seattle, Washington 98195; Department of Endocrinology (P.Y.F.), Seattle Children's Hospital, Seattle, Washington 98105; Nassau University Medical Center (R.B.), East Meadow, New York 11554; Departments of Pediatrics and Human Genetics (C.K.), Ann Arbor, Michigan 48109; The Children's Hospital Colorado (S.T.), Aurora, Colorado 80045; Division of Medical Genetics (S.S., L.H.), Stanford University, Lucile Packard Children's Hospital, Stanford, California 94305; TriStar Children's Specialists (R.P.M.), Nashville, Tennessee 37203; Division of Pediatric Genetics and Metabolism (H.J.S., R.Z.), University of Florida, Gainesville, Florida 32610; Cedars-Sinai Medical Center (O.K.G.), Los Angeles, California 90048; Children's Hospital of Los Angeles (L.R.-P.), Los Angeles, California 90027; and Departments of Pediatrics (A.P.-H., E.D., E.V.) and Urology (E.V.), David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, California 90095.

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http://dx.doi.org/10.1210/jc.2014-2605DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4318895PMC
February 2015

Prevalence and characteristics of fetal alcohol spectrum disorders.

Pediatrics 2014 Nov;134(5):855-66

Sanford Research, Sioux Falls, South Dakota; Department of Pediatrics, Sanford School of Medicine, The University of South Dakota, Sioux Falls, South Dakota.

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http://dx.doi.org/10.1542/peds.2013-3319DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4210790PMC
November 2014

Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.

Am J Med Genet A 2013 Nov 3;161A(11):2762-76. Epub 2013 Oct 3.

Medical Genetics, MassGeneral Hospital for Children, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.36265DOI Listing
November 2013

Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.

Am J Med Genet A 2013 Feb 4;161A(2):320-6. Epub 2013 Jan 4.

Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska 68198, USA.

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http://dx.doi.org/10.1002/ajmg.a.35817DOI Listing
February 2013

The all-or-none phenomenon revisited.

Authors:
Margaret P Adam

Birth Defects Res A Clin Mol Teratol 2012 Aug 17;94(8):664-9. Epub 2012 Jul 17.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine and Seattle Children's Hospital, Seattle, Washington 98105-0371, USA.

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http://dx.doi.org/10.1002/bdra.23029DOI Listing
August 2012

Ambiguous genitalia: what prenatal genetic testing is practical?

Am J Med Genet A 2012 Jun 11;158A(6):1337-43. Epub 2012 May 11.

Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.

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http://dx.doi.org/10.1002/ajmg.a.35338DOI Listing
June 2012

Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge.

Am J Med Genet A 2011 Sep 10;155A(9):2186-95. Epub 2011 Aug 10.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.

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http://dx.doi.org/10.1002/ajmg.a.34226DOI Listing
September 2011

Evolving knowledge of the teratogenicity of medications in human pregnancy.

Am J Med Genet C Semin Med Genet 2011 Aug 15;157C(3):175-82. Epub 2011 Jul 15.

University of Washington in Seattle, and Seattle Children's Hospital, 4800 Sand Point Way NE, Seattle, WA 98105-0371, USA.

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http://doi.wiley.com/10.1002/ajmg.c.30313
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http://dx.doi.org/10.1002/ajmg.c.30313DOI Listing
August 2011

Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).

Am J Med Genet A 2011 May 4;155A(5):1021-32. Epub 2011 Apr 4.

Division of Medical Genetics, Department of Pediatrics, University of Iowa Hospitals & Clinics, Iowa City, USA.

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http://dx.doi.org/10.1002/ajmg.a.33892DOI Listing
May 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

Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome.

Am J Med Genet A 2011 Apr 15;155A(4):805-10. Epub 2011 Mar 15.

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33917
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http://dx.doi.org/10.1002/ajmg.a.33917DOI Listing
April 2011

A family with a 1.17 Mb deletion of 12q12: refining genotype-phenotype correlation.

Am J Med Genet A 2010 Sep;152A(9):2394-8

Department of Pediatrics, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1002/ajmg.a.33570DOI Listing
September 2010

Segmental duplications mediate novel, clinically relevant chromosome rearrangements.

Hum Mol Genet 2009 Aug 14;18(16):2957-62. Epub 2009 May 14.

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.

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http://dx.doi.org/10.1093/hmg/ddp233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2714723PMC
August 2009

Preaxial hallucal polydactyly as a marker for diabetic embryopathy.

Birth Defects Res A Clin Mol Teratol 2009 Jan;85(1):13-9

Emory University School of Medicine, Atlanta, Georgia 30033, USA.

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http://dx.doi.org/10.1002/bdra.20503DOI Listing
January 2009

Progressive and symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian female: a newly recognized overgrowth syndrome?

Am J Med Genet A 2008 Mar;146A(5):543-7

Department of Human Genetics, Division of Medical Genetics, Emory University School of Medicine, Atlanta, Georgia 30030, USA.

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http://doi.wiley.com/10.1002/ajmg.a.32166
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http://dx.doi.org/10.1002/ajmg.a.32166DOI Listing
March 2008

Mowat-Wilson syndrome with craniosynostosis: a case report.

Am J Med Genet A 2008 Jan;146A(2):245-6

Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

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http://dx.doi.org/10.1002/ajmg.a.32075DOI Listing
January 2008

Genotype/phenotype correlations in two patients with 12q subtelomere deletions.

Am J Med Genet A 2007 Nov;143A(22):2700-5

Department of Human Genetics, Emory University School of Medicine, Decatur, GA 30033-5207, USA.

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http://dx.doi.org/10.1002/ajmg.a.32005DOI Listing
November 2007

Rhabdomyomatous hamartomata of the pharyngeal region with bilateral microtia and aural atresia: a new association?

Birth Defects Res A Clin Mol Teratol 2007 Mar;79(3):242-8

Department of Human Genetics, Division of Medical Genetics, Emory University School of Medicine, Atlanta, Georgia 30033, USA.

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http://dx.doi.org/10.1002/bdra.20338DOI Listing
March 2007

Clinical features and management issues in Mowat-Wilson syndrome.

Am J Med Genet A 2006 Dec;140(24):2730-41

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

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http://dx.doi.org/10.1002/ajmg.a.31530DOI Listing
December 2006

Vascular-type disruptive defects in fetuses with homozygous alpha-thalassemia: report of two cases and review of the literature.

Prenat Diagn 2005 Dec;25(12):1088-96

Department of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, GA 30033, USA.

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http://dx.doi.org/10.1002/pd.1276DOI Listing
December 2005

Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.

Am J Med Genet A 2005 Aug;137(2):117-24

Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.30580DOI Listing
August 2005

Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortion.

Am J Med Genet A 2003 Nov;123A(1):72-8

Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California 94305-5208, USA.

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http://dx.doi.org/10.1002/ajmg.a.20503DOI Listing
November 2003