David Weaver

  • 4378 Citations
  • 38 h-Index
1968 …2020
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Publications 1968 2020

  • 4378 Citations
  • 38 h-Index
  • 160 Article
  • 1 Letter
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Article
2020

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Koczkowska, M., Callens, T., Chen, Y., Gomes, A., Hicks, A. D., Sharp, A., Johns, E., Uhas, K. A., Armstrong, L., Bosanko, K. A., Babovic-Vuksanovic, D., Baker, L., Basel, D. G., Bengala, M., Bennett, J. T., Chambers, C., Clarkson, L. K., Clementi, M., Cortés, F. M., Cunningham, M. & 88 others, D'Agostino, M. D., Delatycki, M. B., Digilio, M. C., Dosa, L., Esposito, S., Fox, S., Freckmann, M. L., Fauth, C., Giugliano, T., Giustini, S., Goetsch, A., Goldberg, Y., Greenwood, R. S., Griffis, C., Gripp, K. W., Gupta, P., Haan, E., Hachen, R. K., Haygarth, T. L., Hernández-Chico, C., Hodge, K., Hopkin, R. J., Hudgins, L., Janssens, S., Keller, K., Kelly-Mancuso, G., Kochhar, A., Korf, B. R., Lewis, A. M., Liebelt, J., Lichty, A., Listernick, R. H., Lyons, M. J., Maystadt, I., Martinez Ojeda, M., McDougall, C., McGregor, L. K., Melis, D., Mendelsohn, N., Nowaczyk, M. J. M., Ortenberg, J., Panzer, K., Pappas, J. G., Pierpont, M. E., Piluso, G., Pinna, V., Pivnick, E. K., Pond, D. A., Powell, C. M., Rogers, C., Ruhrman Shahar, N., Rutledge, S. L., Saletti, V., Sandaradura, S. A., Santoro, C., Schatz, U. A., Schreiber, A., Scott, D. A., Sellars, E. A., Sheffer, R., Siqveland, E., Slopis, J. M., Smith, R., Spalice, A., Stockton, D. W., Streff, H., Theos, A., Tomlinson, G. E., Tran, G., Trapane, P. L., Trevisson, E., Ullrich, N. J., Van den Ende, J., Schrier Vergano, S. A., Wallace, S. E., Wangler, M. F., Weaver, D. D., Yohay, K. H., Zackai, E., Zonana, J., Zurcher, V., Claes, K. B. M., Eoli, M., Martin, Y., Wimmer, K., De Luca, A., Legius, E. & Messiaen, L. M., Jan 1 2020, In : Human Mutation. 41, 1, p. 299-315 17 p.

Research output: Contribution to journalArticle

Open Access
Neurofibroma
Neurofibromatosis 1
Plexiform Neurofibroma
Optic Nerve Glioma
Cardiovascular Abnormalities
2019

An unusual cause for Coffin–Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3

Castelluccio, V. J., Vetrini, F., Lynnes, T., Jones, J., Holloway, L., Belonis, A., Breman, A. M., Graham, B. H., Sapp, K., Wilson, T., Schwartz, C. E., Pratt, V. M. & Weaver, D. D., Jan 1 2019, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Siblings
Exons
Intellectual Disability
Complementary DNA
Exome
1 Citation (Scopus)
Polycomb Repressive Complex 2
Ectoderm
Embryonic Development
Intellectual Disability
Phenotype
2018
Chromosomes, Human, Pair 5
Genetic Counseling
Chromosomes
Phenotype
Skin

The progression of Wiedemann–Steiner syndrome in adulthood and two novel variants in the KMT2A gene

Feldman, H. R., Dlouhy, S., Lah, M. D., Payne, K. K. & Weaver, D., Jan 1 2018, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Hypertrichosis
Genes
Developmental Disabilities
Intellectual Disability
Kidney
2017

Sinus pericranii in achondroplasia: A case report and review of the literature

Scott, A. A., Hodge, K. D., Torres-Martinez, W., Dlouhy, S., Smith, J. & Weaver, D., 2017, In : Clinical Dysmorphology. 26, 4, p. 252-255 4 p.

Research output: Contribution to journalArticle

Sinus Pericranii
Achondroplasia
Vascular Malformations
Intracranial Pressure
Craniocerebral Trauma
2016
6 Citations (Scopus)

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

Lah, M., Niranjan, T., Srikanth, S., Holloway, L., Schwartz, C. E., Wang, T. & Weaver, D., Apr 1 2016, In : American Journal of Medical Genetics, Part A. 170, 4, p. 881-890 10 p.

Research output: Contribution to journalArticle

Filamins
Keloid
Contracture
Joints
Exome
22 Citations (Scopus)

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

Cohen, A. S. A., Yap, D. B., Lewis, M. E. S., Chijiwa, C., Ramos-Arroyo, M. A., Tkachenko, N., Milano, V., Fradin, M., Mckinnon, M. L., Townsend, K. N., Xu, J., Van Allen, M. I., Ross, C. J. D., Dobyns, W. B., Weaver, D. & Gibson, W. T., Mar 1 2016, In : Human Mutation. 37, 3, p. 301-307 7 p.

Research output: Contribution to journalArticle

Polycomb Repressive Complex 2
Mutation
Megalencephaly
Weaver syndrome
In Vitro Techniques
2015

An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: A previously undescribed syndrome?

Jackson, J., Delk, P., Farrow, E., Griffith, C., Lah, M. & Weaver, D., Apr 1 2015, In : American Journal of Medical Genetics, Part A. 167, 4, p. 683-687 5 p.

Research output: Contribution to journalArticle

Syndactyly
Ectodermal Dysplasia
Polydactyly
Toes
Cranial Fontanelles
7 Citations (Scopus)

Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III)

Weaver, D., Norby, A. R., Rosenfeld, J. A., Proud, V. K., Spangler, B. E., Ming, J. E., Chisholm, E., Zackai, E. H., Lee, B. H., Edelmann, L. & Desnick, R. J., May 1 2015, In : American Journal of Medical Genetics, Part A. 167, 5, p. 1061-1070 10 p.

Research output: Contribution to journalArticle

Chromosome Duplication
Microarray Analysis
Mutation
Genes
Frameshift Mutation
14 Citations (Scopus)

Mutations in the endothelin receptor type a cause mandibulofacial dysostosis with alopecia

Gordon, C. T., Weaver, K. N., Zechi-Ceide, R. M., Madsen, E. C., Tavares, A. L. P., Oufadem, M., Kurihara, Y., Adameyko, I., Picard, A., Breton, S., Pierrot, S., Biosse-Duplan, M., Voisin, N., Masson, C., Bole-Feysot, C., Nitschké, P., Delrue, M. A., Lacombe, D., Guion-Almeida, M. L., Moura, P. P. & 13 others, Garib, D. G., Munnich, A., Ernfors, P., Hufnagel, R. B., Hopkin, R. J., Kurihara, H., Saal, H. M., Weaver, D., Katsanis, N., Lyonnet, S., Golzio, C., Clouthier, D. E. & Amiel, J., Apr 2 2015, In : American Journal of Human Genetics. 96, 4, p. 519-531 13 p.

Research output: Contribution to journalArticle

Mandibulofacial Dysostosis
Endothelin A Receptors
Endothelin Receptors
Alopecia
Mutation
2 Citations (Scopus)

Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: Evidence for lack of penetrance

Lee, B. H., Kasparis, C., Chen, B., Mei, H., Edelmann, L., Moss, C., Weaver, D. & Desnick, R. J., Nov 1 2015, In : Journal of Human Genetics. 60, 11, p. 717-722 6 p.

Research output: Contribution to journalArticle

Penetrance
Basic Helix-Loop-Helix Transcription Factors
Developmental Disabilities
Genetic Heterogeneity
Genetic Counseling
2014
2 Citations (Scopus)

A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: A newly recognized syndrome?

Roberts, J., Torres-Martinez, W., Farrow, E., Stevens, A., Delk, P., White, K. & Weaver, D., Feb 2014, In : American Journal of Medical Genetics, Part A. 164, 2, p. 287-290 4 p.

Research output: Contribution to journalArticle

Pierre Robin Syndrome
Synostosis
Thigh
Cryptorchidism
Hip
17 Citations (Scopus)

Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1

Jorgez, C. J., Rosenfeld, J. A., Wilken, N. R., Vangapandu, H. V., Sahin, A., Pham, D., Carvalho, C. M. B., Bandholz, A., Miller, A., Weaver, D., Burton, B., Babu, D., Bamforth, J. S., Wilks, T., Flynn, D. P., Roeder, E., Patel, A., Cheung, S. W., Lupski, J. R. & Lamb, D. J., Sep 1 2014, In : PLoS One. 9, 9, e107028.

Research output: Contribution to journalArticle

genomics
Defects
Genitalia
bladder
genitalia
81 Citations (Scopus)

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker Syndrome, and distal arthrogryposis type 5

McMillin, M. J., Beck, A. E., Chong, J. X., Shively, K. M., Buckingham, K. J., Gildersleeve, H. I. S., Aracena, M. I., Aylsworth, A. S., Bitoun, P., Carey, J. C., Clericuzio, C. L., Crow, Y. J., Curry, C. J., Devriendt, K., Everman, D. B., Fryer, A., Gibson, K., Giovannucci Uzielli, M. L., Graham, J. M., Hall, J. G. & 25 others, Hecht, J. T., Heidenreich, R. A., Hurst, J. A., Irani, S., Krapels, I. P. C., Leroy, J. G., Mowat, D., Plant, G. T., Robertson, S. P., Schorry, E. K., Scott, R. H., Seaver, L. H., Sherr, E., Splitt, M., Stewart, H., Stumpel, C., Temel, S. G., Weaver, D., Whiteford, M., Williams, M. S., Tabor, H. K., Smith, J. D., Shendure, J., Nickerson, D. A. & Bamshad, M. J., May 1 2014, In : American Journal of Human Genetics. 94, 5, p. 734-744 11 p.

Research output: Contribution to journalArticle

Mutation
Cleft Palate
Exome
Molecular Probes
Contracture
4 Citations (Scopus)

Prenatal diagnosis of Carpenter syndrome: Looking beyond craniosynostosis and polysyndactyly

Victorine, A. S., Weida, J., Hines, K. A., Robinson, B., Torres-Martinez, W. & Weaver, D., Mar 2014, In : American Journal of Medical Genetics, Part A. 164, 3, p. 820-823 4 p.

Research output: Contribution to journalArticle

Syndactyly
Craniosynostoses
Prenatal Diagnosis
Brachydactyly
Ovarian Cysts
2013
49 Citations (Scopus)

Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism

Hall, A. L., Drendel, H. M., Verbrugge, J. L., Reese, A. M., Schumacher, K. L., Griffith, C. B., Weaver, D., Abernathy, M. P., Litton, C. G. & Vance, G., Sep 2013, In : Genetics in Medicine. 15, 9, p. 729-732 4 p.

Research output: Contribution to journalArticle

Mosaicism
Chorionic Villi Sampling
DNA
Karyotype
Cytogenetic Analysis
1 Citation (Scopus)

The use of cone beam computed tomography for the assessment of trichorhinophalangeal syndrome, type I-a case report

Ghoneima, A., Sachdeva, K., Hartsfield, J., Weaver, D. & Kula, K., Mar 2013, In : Journal of Orthodontics. 40, 1, p. 47-52 6 p.

Research output: Contribution to journalArticle

Cone-Beam Computed Tomography
Lip
Pyrus
Epiphyses
Temporomandibular Joint
6 Citations (Scopus)

Two decades of huntington disease testing: Patient's demographics and reproductive choices

Krukenberg, R. C., Koller, D. L., Weaver, D., Dickerson, J. N. & Quaid, K. A., 2013, In : Journal of Genetic Counseling. 22, 5, p. 643-653 11 p.

Research output: Contribution to journalArticle

Huntington Disease
Demography
Decision Making
Mothers
Learning
2012

A case of multiple congenital anomalies including unusual ear nodules and finger contractures: A new genetic syndrome?

Davis, M. E., Stevens, A. K. & Weaver, D., Oct 2012, In : Clinical Dysmorphology. 21, 4, p. 218-221 4 p.

Research output: Contribution to journalArticle

Multiple Abnormalities
Contracture
Preschool Children
Fingers
Ear
4 Citations (Scopus)

Duplication of 18q21.32-q22.3 identified in a stillborn and two relatives with minimal dysmorphic features

Henson, K. E., Hines, K. A., Weaver, D., Torres, W. M., Verbrugge, J., Stone, K. & Vance, G., Jul 2012, In : American Journal of Medical Genetics, Part A. 158 A, 7, p. 1788-1792 5 p.

Research output: Contribution to journalArticle

Multiple Abnormalities
Chromosomes, Human, Pair 18
Stillbirth
Trisomy
Genetic Association Studies
135 Citations (Scopus)

Mutations in EZH2 cause weaver syndrome

Gibson, W. T., Hood, R. L., Zhan, S. H., Bulman, D. E., Fejes, A. P., Moore, R., Mungall, A. J., Eydoux, P., Babul-Hirji, R., An, J., Marra, M. A., Chitayat, D., Boycott, K. M., Weaver, D. & Jones, S. J. M., Jan 13 2012, In : American Journal of Human Genetics. 90, 1, p. 110-118 9 p.

Research output: Contribution to journalArticle

Mutation
Exome
Genes
Weaver syndrome
Enhancer of Zeste Homolog 2 Protein
5 Citations (Scopus)

Report of a mother and daughter with the 12q14 microdeletion syndrome

Bibb, A. L., Rosenfeld, J. A. & Weaver, D., Feb 2012, In : American Journal of Medical Genetics, Part A. 158 A, 2, p. 417-422 6 p.

Research output: Contribution to journalArticle

Osteopoikilosis
Microcephaly
Learning Disorders
Phenotype
Weights and Measures

Severe lateral tibial bowing with short stature in two siblings-A provisionally novel syndrome

Zitano, L., Loder, R., Cohen, M. D. & Weaver, D., Sep 2012, In : American Journal of Medical Genetics, Part A. 158 A, 9, p. 2309-2316 8 p.

Research output: Contribution to journalArticle

Siblings
Rickets
Pseudarthrosis
Fibula
Epiphyses
2011
16 Citations (Scopus)

Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family

Mark, P. R., Torres-Martinez, W., Lachman, R. S. & Weaver, D., Jan 2011, In : American Journal of Medical Genetics, Part A. 155, 1, p. 174-179 6 p.

Research output: Contribution to journalArticle

Lordosis
Coxa Vara
Pubic Bone
Mothers
Uvula
10 Citations (Scopus)

Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes

Rosenfeld, J. A., Stephens, L. E., Coppinger, J., Ballif, B. C., Hoo, J. J., French, B. N., Banks, V. C., Smith, W. E., Manchester, D., Tsai, A. C. H., Merrion, K., Mendoza-Londono, R., Dupuis, L., Schultz, R., Torchia, B., Sahoo, T., Bejjani, B., Weaver, D. & Shaffer, L. G., May 2011, In : European Journal of Human Genetics. 19, 5, p. 547-554 8 p.

Research output: Contribution to journalArticle

Chromosome Breakpoints
Genomic Segmental Duplications
Angelman Syndrome
Prader-Willi Syndrome
Phenotype
2010
398 Citations (Scopus)

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Girirajan, S., Rosenfeld, J. A., Cooper, G. M., Antonacci, F., Siswara, P., Itsara, A., Vives, L., Walsh, T., McCarthy, S. E., Baker, C., Mefford, H. C., Kidd, J. M., Browning, S. R., Browning, B. L., Dickel, D. E., Levy, D. L., Ballif, B. C., Platky, K., Farber, D. M., Gowans, G. C. & 39 others, Wetherbee, J. J., Asamoah, A., Weaver, D., Mark, P. R., Dickerson, J., Garg, B. P., Ellingwood, S. A., Smith, R., Banks, V. C., Smith, W., McDonald, M. T., Hoo, J. J., French, B. N., Hudson, C., Johnson, J. P., Ozmore, J. R., Moeschler, J. B., Surti, U., Escobar, L. F., El-Khechen, D., Gorski, J. L., Kussmann, J., Salbert, B., Lacassie, Y., Biser, A., McDonald-Mcginn, D. M., Zackai, E. H., Deardorff, M. A., Shaikh, T. H., Haan, E., Friend, K. L., Fichera, M., Romano, C., Gécz, J., Delisi, L. E., Sebat, J., King, M. C., Shaffer, L. G. & Eichler, E. E., Mar 2010, In : Nature Genetics. 42, 3, p. 203-209 7 p.

Research output: Contribution to journalArticle

Phenotype
Mutation
11 Citations (Scopus)

A tale of two deletions: A report of two novel 20p13 → pter deletions

McGill, A. K., Pastore, M. T., Herman, G. E., Alliman, S., Rosenfeld, J. A. & Weaver, D., Apr 2010, In : American Journal of Medical Genetics, Part A. 152, 4, p. 1000-1007 8 p.

Research output: Contribution to journalArticle

Ear
Osteogenesis
Seizures
Genes
Deletion 20p Chromosome 20
27 Citations (Scopus)

Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism

Weaver, D., Solomon, B. D., Akin-Samson, K., Kelley, R. I. & Muenke, M., Feb 15 2010, In : American Journal of Medical Genetics - Seminars in Medical Genetics. 154, 1, p. 142-145 4 p.

Research output: Contribution to journalArticle

Smith-Lemli-Opitz Syndrome
Holoprosencephaly
Mutation
Fetus
Fathers
2009

Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: A persistent challenge 18 years later

Escobar, L. F. & Weaver, D., May 2009, In : American Journal of Medical Genetics, Part A. 149, 5, p. 1099-1101 3 p.

Research output: Contribution to journalArticle

Prenatal Ultrasonography
Osteochondrodysplasias
Ultrasonography
52 Citations (Scopus)

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region

Coppinger, J., McDonald-Mcginn, D., Zackai, E., Shane, K., Atkin, J. F., Asamoah, A., Leland, R., Weaver, D., Lansky-Shafer, S., Schmidt, K., Feldman, H., Cohen, W., Phalin, J., Powell, B., Ballif, B. C., Theisen, A., Geiger, E., Haldeman-Englert, C., Shaikh, T. H., Saitta, S. & 2 others, Bejjani, B. A. & Shaffer, L. G., 2009, In : Human Molecular Genetics. 18, 8, p. 1377-1383 7 p.

Research output: Contribution to journalArticle

Genomic Segmental Duplications
Megalencephaly
Microcephaly
Eyelids
Intellectual Disability
5 Citations (Scopus)

Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.

Abidi, F., Holloway, L., Moore, C. A., Weaver, D., Simensen, R. J., Stevenson, R. E., Rogers, R. C. & Schwartz, C. E., Apr 2009, In : Human Genetics. 125, 3, p. 345 1 p.

Research output: Contribution to journalArticle

Molecular Sequence Data
N Demethylating Oxidoreductases
X-Linked Mental Retardation
RNA Splicing
Sequence Deletion
37 Citations (Scopus)

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

Griffith, C. B., Vance, G. & Weaver, D., Jun 2009, In : American Journal of Medical Genetics, Part A. 149, 6, p. 1346-1358 13 p.

Research output: Contribution to journalArticle

Mosaicism
Micrognathism
Laryngostenosis
Pterygium
Chromosomes, Human, Pair 13
2008
6 Citations (Scopus)

A report of an apparent new genetic syndrome consisting of joint contractures, keloids, large optic cup-to-disc ratio and renal stones

Heyen, C. A., Delk, P. R., Bull, M. J. & Weaver, D., Dec 15 2008, In : American Journal of Medical Genetics, Part A. 146, 24, p. 3120-3125 6 p.

Research output: Contribution to journalArticle

Keloid
Contracture
Joints
Kidney
Inheritance Patterns
54 Citations (Scopus)

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia

Abidi, F. E., Holloway, L., Moore, C. A., Weaver, D., Simensen, R. J., Stevenson, R. E., Rogers, R. C. & Schwartz, C. E., Dec 2008, In : Journal of Medical Genetics. 45, 12, p. 787-793 7 p.

Research output: Contribution to journalArticle

Abnormal Reflexes
X-Linked Mental Retardation
Intellectual Disability
Mutation
Genes
1 Citation (Scopus)

Ramos-Arroyo syndrome: Long-term follow-up of previously reported family

Spurrier, J. L. & Weaver, D., Mar 15 2008, In : American Journal of Medical Genetics, Part A. 146, 6, p. 675-682 8 p.

Research output: Contribution to journalArticle

Bilateral Hearing Loss
Ductus Arteriosus
Hirschsprung Disease
Retinal Pigment Epithelium
Sensorineural Hearing Loss
1 Citation (Scopus)

Recurrent non-immune hydrops fetalis with gracile bones and dysmorphic features in siblings

Abboy, S., Weaver, D., Padilla, L. M., Faught, P. & Akin, K. K., Jun 15 2008, In : American Journal of Medical Genetics, Part A. 146, 12, p. 1503-1508 6 p.

Research output: Contribution to journalArticle

Hydrops Fetalis
Siblings
Humeral Fractures
Bone and Bones
Upper Extremity
2007
61 Citations (Scopus)

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth

Douglas, J., Cilliers, D., Coleman, K., Tatton-Brown, K., Barker, K., Bernhard, B., Burn, J., Huson, S., Josifova, D., Lacombe, D., Malik, M., Mansour, S., Reid, E., Cormier-Daire, V., Cole, T., Addor, M., Al Swaid, A., Amiel, J., Andries, S., Archer, H. & 133 others, Barnicoat, A., Barrow, M., Barwell, J., Baujat, G., Becker, K., Berg, J., Bernhard, B., Bhat, M., Bitner, M., Blair, E., Brady, A., Brueton, L., Cavani, S., Cecconi, Chandler, K., Christensen, C., Clarke, A., Clayton-Smith, J., Cole, T., Colleaux, L., Colley, A., Collins, A., Cormier-Daire, V., Danda, S., Davies, S., Day, R., Magali, D. R., Dennis, N., Dobbie, A., Edery, P., Elmslie, F., Faravelli, F., Firth, H., Fischetto, R., Fitzpatrick, D., Forzano, F., Foulds, N., Franklin, J., Fryer, A., Garcia, S., Gardiner, C., Garrett, C., Gener, B., Gibbons, R., Gillerot, Y., Gillessen-Kaesbach, G., Goudie, D., Grasso, M., Henderson, A., Hirst, J., Hodgson, S., Holder, S., Homfrey, T., Hughes, H., Kerr, B., Kumar, A., Kumar, D., Lacombe, D., Lam, W., Le Merrer, M., Leonard, N., Liebelt, J., Lunt, P., Lynch, S., Lyonnet, S., Magee, A., Malacarne, M., Mansour, S., McEntagart, M., Majore, S., McKee, S., McKeown, C., Meinecke, P., Metcalfe, K., Milani, D., Mohammad, S., Munnich, A., Murray, A., Nemeth, A., Neri, G., Odent, S., Park, S., Patton, M., Penny, E., Pilz, D., Plecko, B., Pollitt, C., Price, S., Quarrell, O., Raas-Rothschild, A., Rahman, N., Raith, W., Rankin, J., Raymond, L., Reardon, W., Reid, E., Rosser, E., Ruddy, D., Saggar-Malik, A., Santos, H., Scarano, G., Schaeffer, G. B., Schulze, A., Selicorni, A., Shaw, A., Silengo, M., Smithson, S., Splitt, M., Stewart, F., Stewart, H., Suri, M., Sweeney, E., Tatton-Brown, K., Temple, I. K., Thompson, E., Tischkowitz, M., Tolmie, J., Turkmen, S., Turnpenny, P., Van Maldergem, L., Vasudevan, P., Vaz, I., Waggoner, D., Verellen, C., Viot, G., Wakeling, E., Weaver, D., White, K., Wilson, L., Zack, P., Zampino, G., Zankl, A. & Rahman, N., Aug 2007, In : Nature Genetics. 39, 8, p. 963-965 3 p.

Research output: Contribution to journalArticle

Haploinsufficiency
Neurofibromatosis 1
Sequence Deletion
Learning Disorders
Phenotype
18 Citations (Scopus)

On the spectrum of limb-body wall complex, exstrophy of the cloaca, and urorectal septum malformation sequence

Heyroth-Griffis, C. A., Weaver, D., Faught, P., Bellus, G. A. & Torres-Martinez, W., May 15 2007, In : American Journal of Medical Genetics, Part A. 143, 10, p. 1025-1031 7 p.

Research output: Contribution to journalArticle

Cloaca
Extremities
Abdominal Wall
Disorders of Sex Development
Fetus
43 Citations (Scopus)

Phenotypic spectrum of mosaic trisomy 18: Two new patients, a literature review, and counseling issues

Tucker, M. E., Garringer, H. & Weaver, D., Mar 1 2007, In : American Journal of Medical Genetics, Part A. 143, 5, p. 505-517 13 p.

Research output: Contribution to journalArticle

Counseling
Intelligence
Phenotype
Brachydactyly
Primary Ovarian Insufficiency
2005
12 Citations (Scopus)

Adults with VATER association: Long-term prognosis

Wheeler, P. G. & Weaver, D., Oct 15 2005, In : American Journal of Medical Genetics. 138 A, 3, p. 212-217 6 p.

Research output: Contribution to journalArticle

Infertility
CHARGE Syndrome
Truncus Arteriosus
Imperforate Anus
Urogenital System
15 Citations (Scopus)
Silver-Russell Syndrome
Uniparental Disomy
Trisomy
Chromosomes, Human, Pair 7
Mothers
6 Citations (Scopus)

Johnson-McMillin syndrome: Report of a new case with novel features

Cushman, L. J., Torres-Martinez, W. & Weaver, D., Sep 2005, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 73, 9, p. 638-641 4 p.

Research output: Contribution to journalArticle

Conductive Hearing Loss
Alopecia
Kallmann Syndrome
Facial Asymmetry
Branchial Region
43 Citations (Scopus)

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome

Tatton-Brown, K., Douglas, J., Coleman, K., Baujat, G., Chandler, K., Clarke, A., Collins, A., Davies, S., Faravelli, F., Firth, H., Garrett, C., Hughes, H., Kerr, B., Liebelt, J., Reardon, W., Schaefer, G. B., Splitt, M., Temple, I. K., Waggoner, D., Weaver, D. & 5 others, Wilson, L., Cole, T., Cormier-Daire, V., Irrthum, A. & Rahman, N., Apr 2005, In : Journal of Medical Genetics. 42, 4, p. 307-313 7 p.

Research output: Contribution to journalArticle

Sotos Syndrome
Sequence Deletion
Homologous Recombination
Computer Simulation
Chromosomes
3 Citations (Scopus)

Unrelated patients with a rearrangement of chromosome 2 causing duplication of 2p23 and deletion of 2q37

Armstrong, L., Allanson, J. E., Weaver, D., Bevan, C. J. & Hobart, H. H., Apr 30 2005, In : American Journal of Medical Genetics. 134 A, 3, p. 299-304 6 p.

Research output: Contribution to journalArticle

Chromosomes, Human, Pair 2
Nipples
Intellectual Disability
Ear
Counseling
16 Citations (Scopus)

Vascular-type disruptive defects in fetuses with homozygous α-thalassemia: Report of two cases and review of the literature

Adam, M. P., Chueh, J., El-Sayed, Y. Y., Stenzel, A., Vogel, H., Weaver, D. & Hoyme, H. E., Dec 2005, In : Prenatal Diagnosis. 25, 12, p. 1088-1096 9 p.

Research output: Contribution to journalArticle

Thalassemia
Blood Vessels
Fetus
Extremities
Fetal Hemoglobin
2004
11 Citations (Scopus)

Clinical and cytogenetic manifestations of subtelomeric aberrations: Report of six cases

Font-Montgomery, E., Weaver, D., Walsh, L., Christensen, C. & Thurston, V. C., Jun 2004, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 70, 6, p. 408-415 8 p.

Research output: Contribution to journalArticle

Cytogenetics
Intellectual Disability
Chromosomes
Chromosome Disorders
Human Chromosomes
19 Citations (Scopus)

Severe lower limb defects in exstrophy of the cloaca

Jain, M. & Weaver, D., Jul 30 2004, In : American Journal of Medical Genetics. 128 A, 3, p. 320-324 5 p.

Research output: Contribution to journalArticle

Cloaca
Lower Extremity
Extremities
Foot
Fibula
2003
21 Citations (Scopus)
Chondrodysplasia Punctata
Vitamin K Deficiency
Fetal Diseases
Pathologic Constriction
Spine
2002
4 Citations (Scopus)

Progressive vertebral fusion of unknown etiology: A case report

Farrior, J. H., Weaver, D., Kling, T. F. & Klatte, E., Oct 1 2002, In : American Journal of Medical Genetics. 112, 2, p. 221-227 7 p.

Research output: Contribution to journalArticle

Cervical Vertebrae
Thoracic Vertebrae
Lumbar Vertebrae
Spine
Thorax