David D. Weaver

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Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies.

Jan Nico Bouwes Bavinck, David D. Weaver
American journal of medical genetics
1986

A hypothesis is presented to explain the pathogenesis of the Poland, Klippel-Feil, and Möbius anomalies, isolated absence of the pectoralis major with breast hypoplasia, isolated terminal transverse… (More)

Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature

Mark J. Pettenati, Jonathan L. Haines, Rodney R. Higgins, Rebecca S. Wappner, Catherine G. Palmer, David D. Weaver
Human Genetics
1986

The main features of Wiedemann-Beckwith syndrome (WBS) include macroglossia, abdominal wall defects, visceromegaly, gigantism, hypoglycemia, ear creases, nevus flammeus, and mid-face hypoplasia.… (More)

The axial mesodermal dysplasia spectrum.

Laura J Russell, David D. Weaver, Marilyn J. Bull
Pediatrics
1981

Features of both the Goldenhar and the caudal regression syndromes were found in the patient described. A search of the literature revealed two other patients having both conditions. However, a… (More)

Partial urorectal septum malformation sequence: a report of 25 cases.

Patricia G. Wheeler, David D. Weaver
American journal of medical genetics
2001

We have identified 25 cases with what we are calling the partial urorectal septum malformation (URSM) sequence, which were seen in our institution over the past 27 years. The partial URSM sequence is… (More)

Adults with VATER association: long-term prognosis.

Patricia G. Wheeler, David D. Weaver
American journal of medical genetics. Part A
2005

VATER "association" is a common condition, with the diagnosis typically based on a characteristic constellation of congenital anomalies. Reported long-term follow-up information on VATER association… (More)

Mutations in EZH2 cause Weaver syndrome.

William Thomas Gibson, Rebecca L. Hood, +12 authors Steven J. Jones
American journal of human genetics
2012

We used trio-based whole-exome sequencing to analyze two families affected by Weaver syndrome, including one of the original families reported in 1974. Filtering of rare variants in the affected… (More)

Urorectal Septum Malformation Sequence: Report of Six Cases and Embryological Analysis

Luiz Fernando Escobar, David D. Weaver, David Bixler, Marion E Hodes, Michael E. Mitchell
American journal of diseases of children
1987

We encountered six female infants with a specific pattern of developmental abnormalities of the urogenital and lower intestinal tracts. The anomalies included ambiguous genitalia, lack of perineal… (More)

Phenotypic variability in trisomy 13 mosaicism: two new patients and literature review.

Christopher B. Griffith, Gail H. Vance, David D. Weaver
American journal of medical genetics. Part A
2009

Trisomy 13 mosaicism occurs when two cell lines, one with a normal complement of chromosomes and the other with an additional chromosome 13, are present in the same individual. We present two… (More)

In utero brain destruction resulting in collapse of the fetal skull, microcephaly, scalp rugae, and neurologic impairment: the fetal brain disruption sequence.

Laura J Russell, David D. Weaver, Marilyn J. Bull, M Weinbaum
American journal of medical genetics
1984

Three infants are reported with a recognizable pattern of defects consisting of severe microcephaly, overlapping sutures, prominence of the occipital bone, and scalp rugae. This condition, which we… (More)

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

Maria Nicla Loviglio, Marion Leleu, +162 authors DeeDee Lafayette
Molecular Psychiatry
2017

Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3… (More)

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