David Weaver

  • 4454 Citations
  • 38 h-Index
1968 …2020

Research output per year

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Publications

  • 4454 Citations
  • 38 h-Index
  • 145 Article
  • 11 Letter
  • 5 Review article
  • 1 Comment/debate
2020

An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology

Stinson, J. L., Brault, J. A., Delk, P. R., Graham, B. H., Karmazyn, B., Hall, B. & Weaver, D. D., Jul 1 2020, In : American Journal of Medical Genetics, Part A. 182, 7, p. 1562-1571 10 p.

Research output: Contribution to journalArticle

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
4 Scopus citations
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., Dec 1 2019, In : American Journal of Medical Genetics, Part A. 179, 12, p. 2357-2364 8 p.

Research output: Contribution to journalArticle

1 Scopus citations

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

Feldman, H. R., Dlouhy, S. R., Lah, M. D., Payne, K. K. & Weaver, D. D., Feb 1 2019, In : American Journal of Medical Genetics, Part A. 179, 2, p. 300-305 6 p.

Research output: Contribution to journalArticle

1 Scopus citations
2018
2017

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

Scott, A. A., Hodge, K. D., Torres-Martinez, W., Dlouhy, S. R., Smith, J. L. & Weaver, D. D., Jan 1 2017, In : Clinical Dysmorphology. 26, 4, p. 252-255 4 p.

Research output: Contribution to journalArticle

1 Scopus citations
2016

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. D., Apr 1 2016, In : American Journal of Medical Genetics, Part A. 170, 4, p. 881-890 10 p.

Research output: Contribution to journalArticle

8 Scopus citations

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. D. & Gibson, W. T., Mar 1 2016, In : Human Mutation. 37, 3, p. 301-307 7 p.

Research output: Contribution to journalArticle

23 Scopus citations
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. D., Apr 1 2015, In : American Journal of Medical Genetics, Part A. 167, 4, p. 683-687 5 p.

Research output: Contribution to journalArticle

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

Weaver, D. 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

7 Scopus citations

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. 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

18 Scopus citations

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. D. & Desnick, R. J., Nov 1 2015, In : Journal of Human Genetics. 60, 11, p. 717-722 6 p.

Research output: Contribution to journalArticle

2 Scopus citations
2014

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. E. & Weaver, D. D., Feb 1 2014, In : American Journal of Medical Genetics, Part A. 164, 2, p. 287-290 4 p.

Research output: Contribution to journalArticle

2 Scopus citations

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. 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 2014, In : PloS one. 9, 9, e107028.

Research output: Contribution to journalArticle

18 Scopus citations

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. 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

83 Scopus citations

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. D., Mar 2014, In : American Journal of Medical Genetics, Part A. 164, 3, p. 820-823 4 p.

Research output: Contribution to journalArticle

4 Scopus citations
2013

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. D., Abernathy, M. P., Litton, C. G. & Vance, G. H., Sep 1 2013, In : Genetics in Medicine. 15, 9, p. 729-732 4 p.

Research output: Contribution to journalArticle

50 Scopus citations

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 1 2013, In : Journal of Orthodontics. 40, 1, p. 47-52 6 p.

Research output: Contribution to journalArticle

1 Scopus citations

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

Krukenberg, R. C., Koller, D. L., Weaver, D. D., Dickerson, J. N. & Quaid, K. A., May 27 2013, In : Journal of Genetic Counseling. 22, 5, p. 643-653 11 p.

Research output: Contribution to journalArticle

6 Scopus citations
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. D., Oct 1 2012, In : Clinical Dysmorphology. 21, 4, p. 218-221 4 p.

Research output: Contribution to journalArticle

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. D., Torres, W. M., Verbrugge, J., Stone, K. & Vance, G. H., Jul 1 2012, In : American Journal of Medical Genetics, Part A. 158 A, 7, p. 1788-1792 5 p.

Research output: Contribution to journalLetter

4 Scopus citations

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. 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

140 Scopus citations

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

Bibb, A. L., Rosenfeld, J. A. & Weaver, D. D., Feb 1 2012, In : American Journal of Medical Genetics, Part A. 158 A, 2, p. 417-422 6 p.

Research output: Contribution to journalArticle

5 Scopus citations

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

Zitano, L., Loder, R. T., Cohen, M. D. & Weaver, D. D., Sep 1 2012, In : American Journal of Medical Genetics, Part A. 158 A, 9, p. 2309-2316 8 p.

Research output: Contribution to journalArticle

2011

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. D., Jan 1 2011, In : American Journal of Medical Genetics, Part A. 155, 1, p. 174-179 6 p.

Research output: Contribution to journalArticle

16 Scopus citations

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. D. & Shaffer, L. G., May 1 2011, In : European Journal of Human Genetics. 19, 5, p. 547-554 8 p.

Research output: Contribution to journalArticle

12 Scopus citations
2010

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. 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

411 Scopus citations

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. D., Apr 1 2010, In : American Journal of Medical Genetics, Part A. 152, 4, p. 1000-1007 8 p.

Research output: Contribution to journalArticle

11 Scopus citations

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

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

Research output: Contribution to journalArticle

27 Scopus citations
2009

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

Escobar, L. F. & Weaver, D. D., May 1 2009, In : American Journal of Medical Genetics, Part A. 149, 5, p. 1099-1101 3 p.

Research output: Contribution to journalLetter

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. 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

52 Scopus citations

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

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

Research output: Contribution to journalArticle

6 Scopus citations

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

Griffith, C. B., Vance, G. H. & Weaver, D. D., Jun 1 2009, In : American Journal of Medical Genetics, Part A. 149, 6, p. 1346-1358 13 p.

Research output: Contribution to journalReview article

38 Scopus citations
2008

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. D., Dec 15 2008, In : American Journal of Medical Genetics, Part A. 146, 24, p. 3120-3125 6 p.

Research output: Contribution to journalArticle

6 Scopus citations

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

Abidi, F. E., Holloway, L., Moore, C. A., Weaver, D. D., Simensen, R. J., Stevenson, R. E., Rogers, R. C. & Schwartz, C. E., Dec 1 2008, In : Journal of Medical Genetics. 45, 12, p. 787-793 7 p.

Research output: Contribution to journalArticle

57 Scopus citations

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

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

Research output: Contribution to journalArticle

1 Scopus citations

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

Abboy, S., Weaver, D. 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

1 Scopus citations
2007

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. & 132 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., 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., Jun 1 2007, In : Nature genetics. 39, 8, p. 963-965 3 p.

Research output: Contribution to journalArticle

61 Scopus citations

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

Heyroth-Griffis, C. A., Weaver, D. 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 journalReview article

18 Scopus citations

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

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

Research output: Contribution to journalReview article

44 Scopus citations
2005

Adults with VATER association: Long-term prognosis

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

Research output: Contribution to journalArticle

13 Scopus citations
15 Scopus citations

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

Cushman, L. J., Torres-Martinez, W. & Weaver, D. D., Sep 1 2005, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 73, 9, p. 638-641 4 p.

Research output: Contribution to journalArticle

6 Scopus citations

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. 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

45 Scopus citations

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

Armstrong, L., Allanson, J. E., Weaver, D. 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

3 Scopus citations

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. D. & Hoyme, H. E., Dec 1 2005, In : Prenatal Diagnosis. 25, 12, p. 1088-1096 9 p.

Research output: Contribution to journalArticle

16 Scopus citations
2004

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

Font-Montgomery, E., Weaver, D. D., Walsh, L., Christensen, C. & Thurston, V. C., Jun 1 2004, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 70, 6, p. 408-415 8 p.

Research output: Contribution to journalArticle

11 Scopus citations

Severe lower limb defects in exstrophy of the cloaca

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

Research output: Contribution to journalArticle

19 Scopus citations
2003
21 Scopus citations