E. Elias

A. Lorts, L. Valdes‐Cruz, Kak‐Chen Chan, 2005, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

Sexuality of Children and Adolescents With Developmental Disabilities

E. Elias, N. Murphy, 2006, Pediatrics.

Automated syndrome diagnosis by three-dimensional facial imaging

David C. Katz, Jordan J. Bannister, Jacinda R. Larson, 2020, Genetics in Medicine.

Genetic Evaluation in the Newborn

E. Elias, 2003 .

A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development

E. Zackai, L. Schieve, J. Hoover-Fong, 2019, Journal of Autism and Developmental Disorders.

Skeletal anomalies and deformities in patients with deletions of 22q11.

E. Zackai, R. Markowitz, B. Emanuel, 1997, American journal of medical genetics.

Abnormal cholesterol biosynthesis in the Smith = Lem I i-0 pi tz sy nd rome

A. Honda, Guorong Xu, G. Tint, 1996 .

Chapter 74 – CHILDREN WITH MULTIPLE DISABILITIES AND SPECIAL HEALTH CARE NEEDS

E. Elias, 2009 .

Home Care of Children and Youth With Complex Health Care Needs and Technology Dependencies

E. Elias, N. Murphy, 2012, Pediatrics.

Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients[S]

R. Steiner, Libin Xu, Wei Liu, 2013, Journal of Lipid Research.

Genetic evaluation of the child with an autism spectrum disorder.

E. Elias, Laura L. Pickler, 2009, Pediatric annals.

Benign hemorrhagic adrenocortical macrocysts in Beckwith-Wiedemann syndrome.

W. Berdon, J. Beckwith, E. Elias, 1991, AJR. American journal of roentgenology.

The co‐occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations?

T. Shaikh, S. Hepburn, K. Gardiner, 2017, Prenatal diagnosis.

The co-occurrence of Down syndrome and autism spectrum disorder : is it due to additional genetic variations ? Running head : Genetic variation in co-occurring Down syndrome and ASD

T. Shaikh, S. Hepburn, K. Gardiner, 2016 .

Parent-Provider-Community Partnerships: Optimizing Outcomes for Children With Disabilities

S. Levy, S. Friedman, Chairperson, 2011, Pediatrics.

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.

G Salen, A K Batta, G S Tint, 1994, The New England journal of medicine.

KDM5A mutations identified in autism spectrum disorder using forward genetics

R. Louie, B. Beutler, R. Maroofian, 2020, eLife.

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.

L. Vissers, R. Pfundt, B. D. de Vries, 2020, American journal of human genetics.

Exonic deletion of OPHN1 resulting in seizures, intellectual disability, and brain malformations

A. Larson, E. Elias, J. Leroux, 2014 .

IRF2BPL gene mutation: Expanding on neurologic phenotypes

A. Larson, E. Elias, Jasleen K. Singh, 2019, American journal of medical genetics. Part A.

Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy

T. Shaikh, Hung-Chun Yu, S. Miyamoto, 2016, Cold Spring Harbor molecular case studies.

Chapter 22 – BIOMEDICAL BASIS OF DEVELOPMENT AND BEHAVIOR

Ellen Roy Elias, E. Elias, 2009 .

Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant.

J. Milunsky, H. Wyandt, A. Milunsky, 1994, American journal of medical genetics.

Care Coordination in the Medical Home: Integrating Health and Related Systems of Care for Children With Special Health Care Needs

Nancy A. Murphy, Joshua Alexander, D. Lollar, 2005, Pediatrics.

Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.

S. Dimauro, Y. Goto, S. Tsujino, 1998, Biochemical and biophysical research communications.

Glycogen Storage Diseases

M. Irons, E. Elias, 2000 .

Autistic spectrum disorder in a 9-year-old girl with macrocephaly.

Martin T Stein, Ellen Roy Elias, A. Reynolds, 2010, Journal of developmental and behavioral pediatrics : JDBP.

Fetal Smith‐Lemli‐Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols

A. Honda, M. Till, Guorong Xu, 1998, Prenatal diagnosis.

Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient.

T. Buie, G. Tint, G. Salen, 1994, American journal of medical genetics.

Causal heterogeneity in isolated lissencephaly

D. Ledbetter, R. Pagon, W. Dobyns, 1992, Neurology.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Patricia H. Wheeler, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Physical findings in 21q22 deletion suggest critical region for 21q- phenotype in q22.

C. Cole, J. Cowan, E. Elias, 1995, American journal of medical genetics.

MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome

L. Astrakas, D. Zurakowski, A. Tzika, 2004, Neuroradiology.

Supplemental Security Income (SSI) for Children and Youth With Disabilities

S. Levy, P. Lipkin, G. Peacock, 2009, Pediatrics.

The 3C syndrome: evolution of the phenotype and growth hormone deficiency.

P. Wheeler, A. Sadeghi‐Nejad, E. Elias, 1999, American journal of medical genetics.

Promoting Healthy Sexuality for Children and Adolescents With Disabilities

B. Davis, A. Houtrow, E. Elias, 2021, Pediatrics.

Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.

Hongwei Yu, Shailendra B. Patel, G Salen, 2000, Human molecular genetics.

Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial.

V. P. Johnson, M. Bull, G. Tint, 1997, American journal of medical genetics.

Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)

G Salen, G S Tint, G. Tint, 1997, American journal of medical genetics.

Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.

A. Honda, G. Tint, A. Batta, 1996, Journal of lipid research.

A new syndrome: Heart defects, laryngeal anomalies, preaxial polydactyly, and colonic aganglionosis in sibs

J. Mulliken, L. Holmes, E. Elias, 1999, Genetics in Medicine.

Learning Disabilities, Dyslexia, and Vision

M. Repka, S. Levy, P. Lipkin, 2009, Pediatrics.

AMERICAN ACADEMY OF PEDIATRICS, SECTION ON OPHTHALMOLOGY, COUNCIL ON CHILDREN WITH DISABILITIES AMERICAN ACADEMY OF OPHTHALMOLOGY AMERICAN ASSOCIATION FOR PEDIATRIC OPHTHALMOLOGY AND STRABISMUS AMERICAN ASSOCIATION OF CERTIFIED ORTHOPTISTS

S. Levy, P. Lipkin, Chairperson, 2009 .

Pediatric joint hypermobility: a diagnostic framework and narrative review

R. Engelbert, A. Kline, B. Tinkle, 2023, Orphanet Journal of Rare Diseases.

Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder

E. Zackai, L. Schieve, N. Dowling, 2020, Autism research : official journal of the International Society for Autism Research.

Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance.

S. Latt, J. Opitz, T. Donlon, 1987, American journal of medical genetics.

New recessive syndrome characterized by increased chromosomal breakage and several findings which overlap with Fanconi anemia.

P. Giampietro, A. Auerbach, E. Elias, 1998, American journal of medical genetics.

Biological Influences on Child Development and Behavior and Medical Evaluation of Children With Developmental-Behavioral Disorders

A. Larson, E. Elias, 2018, Developmental and Behavioral Pediatrics.

Response to “Cholesterol supplementation in Smith‐Lemli‐Opitz syndrome”

E. Elias, 1998 .