Publications by authors named "David D Weaver"

Claim this Profile
U
Uncovering a Diagnosis Through Reanalysis of Variants in a Patient with Syndactyly, Polydactyly, and Aplasia Cutis Congenita: A Short Report and a Review of the Literature.
Khurram Liaqat, Kimberly Felipe, Kayla Treat, Molly McPheron, David D Weaver

Genet Test Mol Biomarkers· April 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Personal journeys to and in human genetics and dysmorphology.
Charles E Schwartz, Arthur S Aylsworth, Judith Allanson, Agatino Battaglia, John C Carey, David D Weaver

Am J Med Genet A· June 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A case of MBTPS1-related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype-phenotype expansion and the emergence of a novel syndrome.
Khurram Liaqat, Kayla Treat, Lili Mantcheva, Abdul Nasir, David D Weaver

Am J Med Genet A· May 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Elizabeth E Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H Nguyen, David D Weaver

Mol Psychiatry· February 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.
Ravi Savarirayan, Melita Irving, Paul Harmatz, Borja Delgado, William R Wilcox, David D Weaver

Genet Med· December 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Response to Hamosh et al.
Leslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, Anne R Amemiya, Michael J Bamshad, David D Weaver

Am J Hum Genet· September 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
K
Klinefelter's Syndrome with Maternal Uniparental Disomy X, Interstitial Xp22.31 Deletion, X-linked Ichthyosis, and Severe Central Nervous System Regression.
Jennifer Brault, Laurence Walsh, Gail H Vance, David D Weaver

J Pediatr Genet· September 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features.
Eric S Traub, Sarah E Sheppard, Yoav Dori, Katelyn D Burns, Elaine H Zackai, David D Weaver

Clin Dysmorphol· April 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
O
Occipital Horn Syndrome as a Result of Splice Site Mutations in . No Activity of Splice Variants Missing Exon 10 or Exon 15.
Lisbeth Birk Møller, Mie Mogensen, David D Weaver, Per Amstrup Pedersen

Front Mol Neurosci· April 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Leslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, Anne R Amemiya, Michael J Bamshad, David D Weaver

Am J Hum Genet· January 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction.
Georgianne Younger, Francesco Vetrini, David D Weaver, Ty C Lynnes, Kayla Treat

Am J Med Genet A· November 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
An Adolescent with a Rare Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination.
Leia A Peterman, Gail H Vance, Erin E Conboy, Katelynn Anderson, David D Weaver

Case Rep Genet· August 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology.
Jennifer L Stinson, Jennifer A Brault, Paula R Delk, Brett H Graham, Boaz Karmazyn, David D Weaver

Am J Med Genet A· July 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D Hicks, David D Weaver

Hum Mutat· January 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.
Valerie J Castelluccio, Francesco Vetrini, Ty Lynnes, Julie Jones, Lynda Holloway, David D Weaver

Am J Med Genet A· December 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes.
Sharri Cyrus, Deepika Burkardt, David D Weaver, William T Gibson

Am J Med Genet C Semin Med Genet· December 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene.
Hailey R Feldman, Stephen R Dlouhy, Melissa D Lah, Katelyn K Payne, David D Weaver

Am J Med Genet A· February 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling.
Margaret E Armstrong, David D Weaver, Melissa D Lah, Gail H Vance, Benjamin J Landis

Mol Cytogenet· March 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Sinus pericranii in achondroplasia: a case report and review of the literature.
Abbey A Scott, Katelyn D Hodge, Wilfredo Torres-Martinez, Stephen R Dlouhy, Jodi L Smith, David D Weaver

Clin Dysmorphol· October 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.
Melissa Lah, Tejasvi Niranjan, Sujata Srikanth, Lynda Holloway, Charles E Schwartz, David D Weaver

Am J Med Genet A· April 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
W
Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.
Ana S A Cohen, Damian B Yap, M E Suzanne Lewis, Chieko Chijiwa, Maria A Ramos-Arroyo, David D Weaver

Hum Mutat· March 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance.
Beom Hee Lee, Christos Kasparis, Brenden Chen, Hui Mei, Lisa Edelmann, David D Weaver

J Hum Genet· November 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III).
David D Weaver, Audrey R Norby, Jill A Rosenfeld, Virginia K Proud, Brooke E Spangler

Am J Med Genet A· May 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: a previously undescribed syndrome?
Jessica Jackson, Paula Delk, Emily Farrow, Christopher Griffith, Melissa Lah, David D Weaver

Am J Med Genet A· April 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.
Christopher T Gordon, K Nicole Weaver, Roseli Maria Zechi-Ceide, Erik C Madsen, Andre L P Tavares, David D Weaver

Am J Hum Genet· April 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis