Lynne M. Bird

University of North Carolina at Chapel Hill — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

48h-index8.0kcitations219works2.02yr avg

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Research Topics

Genetic Syndromes and Imprinting(75), Genetics and Neurodevelopmental Disorders(46), Epigenetics and DNA Methylation(35), Genomic variations and chromosomal abnormalities(31), Genomics and Rare Diseases(26)

Publications215 total

Diazoxide Choline Extended-release Tablets in Prader-Willi Syndrome: A Randomized, Double-blind, Withdrawal Period Study

1 cited

The Journal of Clinical Endocrinology & Metabolism·2025· 1 citedOpen Access

KDM2B ‐Related Neurodevelopmental Disorder A Case‐Series Supporting the <scp>CxxC</scp> Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A·2025Open Access

Expanding the Phenotype of Syndromic <scp> SLC30A9 </scp> ‐Associated Disease

American Journal of Medical Genetics Part A·2025

Development of the Angelman syndrome video assessment: quantifying meaningful change

Journal of Neurodevelopmental Disorders·2025Open Access

Utility of at-home video recordings for functional skill assessment in Angelman Syndrome: a pilot study

1 cited

2025· 1 citedOpen Access

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

2 cited

Journal of Clinical Investigation·2025· 2 citedOpen Access

A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome

UNC Libraries·2025Open Access

Parental Stress and Family Quality of Life in Families of Individuals Living With Angelman Syndrome

Journal of Intellectual Disability Research·2025Open Access

1 cited

American Journal of Medical Genetics Part A·2025· 1 cited

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

UNC Libraries·2025Open Access

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

2025Open Access

Intestinal Atresia in <scp> PPP1R12A </scp> ‐Related Urogenital and Brain Malformation Syndrome

1 cited

American Journal of Medical Genetics Part A·2025· 1 citedOpen Access

The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trial

9 cited

Nature Medicine·2025· 9 cited

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using <scp>Face2Gene</scp>

1 cited

American Journal of Medical Genetics Part A·2025· 1 citedOpen Access

Parental stress and family quality of life in families of individuals living with Angelman syndrome

2025Open Access

Novel method for detection of UBE3A protein in CSF from individuals with Angelman syndrome

Molecular Genetics and Metabolism·2025

(008) FEATURES OF VULVODYNIA ASSOCIATED WITH EHLERS-DANLOS SYNDROME

The Journal of Sexual Medicine·2025Open Access

P216: The clinical spectrum of the fetal fentanyl syndrome in 23 cases

Genetics in Medicine Open·2025Open Access

P239: Sleep in Angelman syndrome: Data from the Natural History Study

Genetics in Medicine Open·2025Open Access

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder

6 cited

Genetics in Medicine·2024· 6 citedOpen Access

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Frequent Co-authors

Wen‐Hann Tan(11), Sarika U. Peters(7), Carlos A. Bacino(6), Rene Barbieri‐Welge(6), Marilyn C. Jones(5), Lucia T. Horowitz(5), Arthur L. Beaudet(5), Susan E. Waisbren(5), Mark Nespeca(5), Karen W. Gripp(4), Leslie G. Biesecker(4), Terry Jo Bichell(4), Trilochan Sahoo(4), Irina Anselm(4), Daniel G. Glaze(4), Ronald L. Thibert(4), Anjali Sadhwani(4), Rolph Pfundt(3), Jennifer Friedman(3), Miranda Splitt(3)