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List of works by Margaret P Adam

"CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014

article

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

scientific article published on 27 April 2016

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

scientific article

A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes

scientific article

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

scientific article published on 07 April 2011

A dyadic approach to the delineation of diagnostic entities in clinical genomics

scientific article published on 01 January 2021

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

scientific article published on 01 September 2010

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

scientific article

A non-surgical approach to 46,XY differences in sex development through hormonal suppression at puberty: a single-center case series study

scientific article published on 08 July 2020

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

scientific article published on 05 June 2020

Allelic Dropout Can Cause False-Positive Results for Prader-Willi and Angelman Syndrome Testing ⬇️

scientific article published on December 23, 2010

Ambiguous genitalia: What prenatal genetic testing is practical? ⬇️

scientific article published on May 11, 2012

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

scientific article published in 2022

Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis

article

Birth outcomes in women who have taken adalimumab in pregnancy: A prospective cohort study

scientific article published on 18 October 2019

CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases

Chromosome 22q11.2 deletion syndrome in African‐American patients: A diagnostic challenge ⬇️

scientific article published on August 10, 2011

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Clinical features and management issues in Mowat-Wilson syndrome

scientific article published in December 2006

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

scientific article published on 04 April 2011

Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay

scientific article

Congenital virilization of female infants recognized after pregnancies with retained levonorgestrel intrauterine devices

scientific article published on 20 March 2020

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

scientific article (publication date: 14 May 2010)

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia ⬇️

scientific article published on November 4, 2010

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

scientific article published on 12 October 2016

Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p

scientific article

Discordant sex between fetal screening and postnatal phenotype requires evaluation

scientific article published on 21 November 2018

Early-Life Predictors of Fetal Alcohol Spectrum Disorders

scientific article published on 19 November 2019

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

scientific article published on 03 June 2017

Estimating the community prevalence, child traits, and maternal risk factors of fetal alcohol spectrum disorders (FASD) from a random sample of school children

scientific article published in 2021

Evaluation and diagnosis of the dysmorphic infant

scientific article

Evolving knowledge of the teratogenicity of medications in human pregnancy.

scientific article published on 15 July 2011

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

scientific article

Fetal Alcohol Spectrum Disorders in a Midwestern City: Child Characteristics, Maternal Risk Traits, and Prevalence

scientific article published on 15 April 2020

Fetal Alcohol Spectrum Disorders in a Pacific Southwest City: Maternal and Child Characteristics

scientific article published on 05 November 2019

Fetal Alcohol Spectrum Disorders in a Rocky Mountain Region City: Child Characteristics, Maternal Risk Traits, and Prevalence

scientific article published on 15 April 2020

Fetal Alcohol Spectrum Disorders in a Southeastern County of the United States: Child Characteristics and Maternal Risk Traits

scientific article published on 15 April 2020

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

scientific article

From Genotype to Phenotype—A Review of Kabuki Syndrome

scientific article published in 2022

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

scientific article

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

scientific article published on 13 December 2018

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

scientific article published in November 2007

Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities

scientific article

Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects

scientific article published on 17 November 2014

Is prenatal genomic testing ready for prime time?

scientific article published on 01 July 2018

Kabuki Syndrome ⬇️

scientific article published on July 15, 2021

Kabuki syndrome: international consensus diagnostic criteria

scientific article published on 04 December 2018

Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

scientific article published on 15 April 2006

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

scientific article published in August 2005

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

scientific article published on 01 November 2003

Mowat-Wilson Syndrome

scientific article published on 25 July 2019

Mowat-Wilson syndrome with associated dysphagia

scientific article published on 01 February 2010

Mowat-Wilson syndrome with craniosynostosis: a case report

scientific article

Mowat-Wilson syndrome: growth charts

scientific article published on 15 June 2020

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

scientific article

Novel pregnancy-triggered episodes of CAPOS syndrome.

scientific article published in November 2017

Ocular measurements in fetal alcohol spectrum disorders

scientific article published on 17 July 2020

Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy

scientific article published on 17 June 2019

Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis

scientific article

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

scientific article published on March 15, 2011

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

scientific article published on 4 January 2018

Preaxial hallucal polydactyly as a marker for diabetic embryopathy

scientific article published on 01 January 2009

Prevalence and characteristics of fetal alcohol spectrum disorders.

scientific article published in November 2014

Prevalence of Fetal Alcohol Spectrum Disorders in 4 US Communities

scientific article published in February 2018

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

scientific article published on 01 March 2008

Recommendations for the integration of genomics into clinical practice

scientific article published on 12 May 2016

Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis

scientific article published on 14 September 2020

Replication of High Fetal Alcohol Spectrum Disorders Prevalence Rates, Child Characteristics, and Maternal Risk Factors in a Second Sample of Rural Communities in South Africa

scientific article (publication date: 12 May 2017)

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

scientific article published in March 2007

Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity

scientific article published on 26 March 2012

Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.

scientific article published in April 2008

Segmental duplications mediate novel, clinically relevant chromosome rearrangements

scientific article published on 14 May 2009

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

scientific article

Targeted long-read sequencing identifies missing disease-causing variation

scientific article published on 02 July 2021

The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children

scientific article published on 15 June 2020

The all‐or‐none phenomenon revisited ⬇️

scientific article published on July 17, 2012

Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency

scientific article

Updated Clinical Guidelines for Diagnosing Fetal Alcohol Spectrum Disorders.

scientific article

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

scientific article

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