David D Weaver

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 14

Top Topics

Positive Airway Pressure

Obstructive Sleep Apnea

Endoplasmic Reticulum

Top Venues

American journal of medical genetics. Part A

Case reports in genetics

Journal of pediatric genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Charles E Schwartz, Arthur S Aylsworth, Judith Allanson, Agatino Battaglia, John C Carey, Cynthia J Curry, Kay E Davies, Evan E Eichler, John M Graham, Bryan Hall, Judith G Hall, Lewis B Holmes, H Eugene Hoyme, Alasdair Hunter, Jeffrey W Innis, John Johnson, Kim M Keppler-Noreuil, Jules G Leroy, Cynthia Moore, David L Nelson, Giovanni Neri, John M Opitz, David J Picketts, F Lucy Raymond, Stavit Allon Shalev, Roger E Stevenson, Connie T R M Stumpel, Grant Sutherland, David H Viskochil, David D Weaver, Elaine H Zackai
Personal journeys to and in human genetics and dysmorphology. American journal of medical genetics. Part A (2024)
Charles E Schwartz, Arthur S Aylsworth, Judith Allanson, Agatino Battaglia, John C Carey, Cynthia J Curry, Kay E Davies, Evan E Eichler, John M Graham, Bryan Hall, Judith G Hall, Lewis B Holmes, H Eugene Hoyme, Alasdair Hunter, Jeffrey W Innis, John Johnson, Kim M Keppler-Noreuil, Jules G Leroy, Cynthia Moore, David L Nelson, Giovanni Neri, John M Opitz, David J Picketts, F Lucy Raymond, Stavit Allon Shalev, Roger E Stevenson, Connie T R M Stumpel, Grant Sutherland, David H Viskochil, David D Weaver, Elaine H Zackai
Personal journeys to and in human genetics and dysmorphology. American journal of medical genetics. Part A 194 (6) (2024)
Charles E Schwartz, Arthur S Aylsworth, Judith Allanson, Agatino Battaglia, John C Carey, Cynthia J Curry, Kay E Davies, Evan E Eichler, John M Graham, Bryan Hall, Judith G Hall, Lewis B Holmes, H Eugene Hoyme, Alasdair Hunter, Jeffrey W Innis, John Johnson, Kim M Keppler-Noreuil, Jules G Leroy, Cynthia Moore, David L Nelson, Giovanni Neri, John M Opitz, David J Picketts, F Lucy Raymond, Stavit Allon Shalev, Roger E Stevenson, Connie T R M Stumpel, Grant Sutherland, David H Viskochil, David D Weaver, Elaine H Zackai
Personal journeys to and in human genetics and dysmorphology. American journal of medical genetics. Part A 194 (6) (2024)
Khurram Liaqat, Kayla Treat, Lili Mantcheva, Abdul Nasir, David D Weaver, Erin Conboy, Francesco Vetrini
A case of MBTPS1-related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype-phenotype expansion and the emergence of a novel syndrome. American journal of medical genetics. Part A 194 (5) (2023)
Khurram Liaqat, Kayla Treat, Lili Mantcheva, Abdul Nasir, David D Weaver, Erin Conboy, Francesco Vetrini
A case of MBTPS1-related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype-phenotype expansion and the emergence of a novel syndrome. American journal of medical genetics. Part A (2023)
Khurram Liaqat, Kayla Treat, Lili Mantcheva, Abdul Nasir, David D Weaver, Erin Conboy, Francesco Vetrini
A case of MBTPS1-related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype-phenotype expansion and the emergence of a novel syndrome. American journal of medical genetics. Part A 194 (5) (2023)
Khurram Liaqat, Kayla Treat, Lili Mantcheva, Abdul Nasir, David D Weaver, Erin Conboy, Francesco Vetrini
A case of MBTPS1-related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype-phenotype expansion and the emergence of a novel syndrome. American journal of medical genetics. Part A 194 (5) (2023)
Khurram Liaqat, Kayla Treat, Lili Mantcheva, Abdul Nasir, David D Weaver, Erin Conboy, Francesco Vetrini
A case of MBTPS1-related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype-phenotype expansion and the emergence of a novel syndrome. American journal of medical genetics. Part A 194 (5) (2023)
Jennifer L Stinson, Jennifer A Brault, Paula R Delk, Brett H Graham, Boaz Karmazyn, Bryan Hall, David D Weaver
An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology. American journal of medical genetics. Part A 182 (7) (2020)
Georgianne Younger, Francesco Vetrini, David D Weaver, Ty C Lynnes, Kayla Treat, Victoria M Pratt, Wilfredo Torres-Martinez
EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction. American journal of medical genetics. Part A 182 (11) (2020)
Leia A Peterman, Gail H Vance, Erin E Conboy, Katelynn Anderson, David D Weaver
An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination. Case reports in genetics 2020 (2020)
Jennifer Brault, Laurence Walsh, Gail H Vance, David D Weaver
Klinefelter's Syndrome with Maternal Uniparental Disomy X, Interstitial Xp22.31 Deletion, X-linked Ichthyosis, and Severe Central Nervous System Regression. Journal of pediatric genetics 10 (3) (2020)
Valerie J Castelluccio, Francesco Vetrini, Ty Lynnes, Julie Jones, Lynda Holloway, Alyce Belonis, Amy M Breman, Brett H Graham, Katherine Sapp, Theodore Wilson, Charles E Schwartz, Victoria M Pratt, David D Weaver
An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3. American journal of medical genetics. Part A 179 (12) (2019)
Hailey R Feldman, Stephen R Dlouhy, Melissa D Lah, Katelyn K Payne, David D Weaver
The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene. American journal of medical genetics. Part A 179 (2) (2018)