David Dawson Weaver

School of Medicine, Medical & Molecular Genetics

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David Dawson Weaver

• School of Medicine
  School of Medicine
  
  Medical & Molecular Genetics
  
  

  Current Appointments:

  Professor Emeritus of Medical & Molecular Genetics

  
  
  

This is a list of publications by this researcher, listed chronologically starting with the most recent first. New publications appear in this list weekly. The source of publications and 'cited by' data for this application is Scopus.

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• 1.

  2012

  William T. Gibson; Rebecca L. Hood; Shing Hei Zhan; Dennis E. Bulman; Anthony P. Fejes; Richard Moore; Andrew J. Mungall; Patrice Eydoux; Riyana Babul-Hirji; Jianghong An; et al.

  Mutations in EZH2 cause weaver syndrome

  American Journal of Human Genetics. 2012;90(1):110-118.
  10

• 2.

  2012

  Audrey L. Bibb; Jill A. Rosenfeld; David D. Weaver

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

  American Journal of Medical Genetics, Part A. 2012;158 A(2):417-422.
  0

• 3.

  2012

  Kaylee E. Henson; Karrie A. Hines; David D. Weaver; Wilfredo M. Torres; Jennifer Verbrugge; Kristyne Stone; Gail H. Vance

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

  American Journal of Medical Genetics, Part A. 2012;158 A(7):1788-1792.
  0

• 4.

  2012

  Lia Zitano; Randall T. Loder; Mervyn D. Cohen; David D. Weaver

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

  American Journal of Medical Genetics, Part A. 2012;158 A(9):2309-2316.
  0

• 5.

  2012

  Morgan E. Davis; Abby K. Stevens; David D. Weaver

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

  Clinical Dysmorphology. 2012;21(4):218-221.
  0

• 6.

  2011

  Paul R. Mark; Wilfredo Torres-Martinez; Ralph S. Lachman; David D. Weaver

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

  American Journal of Medical Genetics, Part A. 2011;155(1):174-179.
  3

• 7.

  2011

  Jill A Rosenfeld; Lindsey E Stephens; Justine Coppinger; Blake C Ballif; Joe J Hoo; Beatrice N French; Valerie C Banks; Wendy E Smith; David Manchester; Anne Chun-Hui Tsai; et al.

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

  European Journal of Human Genetics. 2011;19(5):547-554.
  2

• 8.

  2010

  David D. Weaver; Benjamin D. Solomon; Kelly Akin-Samson; Richard I. Kelley; Maximilian Muenke

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

  American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2010;154(1):142-145.
  12

• 9.

  2010

  Santhosh Girirajan; Jill A. Rosenfeld; Gregory M. Cooper; Francesca Antonacci; Priscillia Siswara; Andy Itsara; Laura Vives; Tom Walsh; Shane E. McCarthy; Carl Baker; et al.

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

  Nature Genetics. 2010;42(3):203-209.
  170

• 10.

  2010

  Anna K. McGill; Matthew T. Pastore; Gail E. Herman; Sarah Alliman; Jill A. Rosenfeld; David D. Weaver

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

  American Journal of Medical Genetics, Part A. 2010;152(4):1000-1007.
  3

• 11.

  2009

  Fatima Abidi; Lynda Holloway; Cynthia A Moore; David D Weaver; Richard J Simensen; Roger E Stevenson; R Curtis Rogers; Charles E Schwartz

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

  Human genetics. 2009;125(3):345.
  1

• 12.

  2009

  Fatima Abidi; Lynda Holloway; Cynthia A Moore; David D Weaver; Richard J Simensen; Roger E Stevenson; R Curtis Rogers; Charles E Schwartz

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

  Human genetics. 2009;125(3):344.
  2

• 13.

  2009

  Justine Coppinger; Donna McDonald-Mcginn; Elaine Zackai; Kate Shane; Joan F. Atkin; Alexander Asamoah; Robert Leland; David D. Weaver; Susan Lansky-Shafer; Karen Schmidt; et al.

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

  Human Molecular Genetics. 2009;18(8):1377-1383.
  26

• 14.

  2009

  Christopher B. Griffith; Gail H. Vance; David D. Weaver

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

  American Journal of Medical Genetics, Part A. 2009;149(6):1346-1358.
  14

• 15.

  2009

  Luis F. Escobar; David D. Weaver

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

  American Journal of Medical Genetics, Part A. 2009;149(5):1099-1101.
  0

• 16.

  2008

  Jamie L. Spurrier; David D. Weaver

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

  American Journal of Medical Genetics, Part A. 2008;146(6):675-682.
  1

• 17.

  2008

  Sri Abboy; David D. Weaver; Lillie-Mae Padilla; Philip Faught; Kelly K. Akin

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

  American Journal of Medical Genetics, Part A. 2008;146(12):1503-1508.
  1

• 18.

  2008

  Candy A. Heyen; Paula R. Delk; Marilyn J. Bull; David D. Weaver

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

  American Journal of Medical Genetics, Part A. 2008;146(24):3120-3125.
  1

• 19.

  2008

  Fatima E. Abidi; L. Holloway; C.A. Moore; D.D. Weaver; R.J. Simensen; R.E. Stevenson; R.C. Rogers; C.E. Schwartz

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

  Journal of Medical Genetics. 2008;45(12):787-793.
  19

• 20.

  2007

  Megan E. Tucker; Holly J. Garringer; David D. Weaver

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

  American Journal of Medical Genetics, Part A. 2007;143(5):505-517.
  23

• 21.

  2007

  Cristin A. Heyroth-Griffis; David D. Weaver; Philip Faught; Gary A. Bellus; Wilfredo Torres-Martinez

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

  American Journal of Medical Genetics, Part A. 2007;143(10):1025-1031.
  12

• 22.

  2007

  Jenny Douglas; Deirdre Cilliers; Kim Coleman; Katrina Tatton-Brown; Karen Barker; Brigitte Bernhard; John Burn; Susan Huson; Dragana Josifova; Didier Lacombe; et al.

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

  Nature Genetics. 2007;39(8):963-965.
  26

• 23.

  2005

  Linlea Armstrong; Judith E. Allanson; David D. Weaver; Carole J. Bevan; Holly H. Hobart

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

  American Journal of Medical Genetics. 2005;134 A(3):299-304.
  1

• 24.

  2005

  K. Tatton-Brown; J. Douglas; K. Coleman; G. Baujat; K. Chandler; A. Clarke; A. Collins; S. Davies; F. Faravelli; H. Firth; et al.

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

  Journal of Medical Genetics. 2005;42(4):307-313.
  24

• 25.

  2005

  Esperanza Font-Montgomery; Kristyne M. Stone; David D. Weaver; Gail H. Vance; Soma Das; Virginia C. Thurston

  Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7

  Birth Defects Research Part A - Clinical and Molecular Teratology. 2005;73(8):577-582.
  9

• 26.

  2005

  Patricia G. Wheeler; David D. Weaver

  Adults with VATER association: Long-term prognosis

  American Journal of Medical Genetics. 2005;138 A(3):212-217.
  6

• 27.

  2005

  Lisa J. Cushman; Wilfredo Torres-Martinez; David D. Weaver

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

  Birth Defects Research Part A - Clinical and Molecular Teratology. 2005;73(9):638-641.
  2

• 28.

  2005

  Margaret P. Adam; Jane Chueh; Yasser Y. El-Sayed; Ana Stenzel; Hannes Vogel; David D. Weaver; H. Eugene Hoyme

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

  Prenatal Diagnosis. 2005;25(12):1088-1096.
  8

• 29.

  2004

  Mahim Jain; David D. Weaver

  Severe lower limb defects in exstrophy of the cloaca

  American Journal of Medical Genetics. 2004;128 A(3):320-324.
  12

• 30.

  2004

  Esperanza Font-Montgomery; David D. Weaver; Laurence Walsh; Celanie Christensen; Virginia C. Thurston

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

  Birth Defects Research Part A - Clinical and Molecular Teratology. 2004;70(6):408-415.
  9

• 31.

  2003

  Delaina D. Eash; David D. Weaver; Nicola Brunetti-Pierri

  Cervical spine stenosis and possible vitamin K deficiency embryopathy in an unusual case of chondrodysplasia punctata and an updated classification system

  American Journal of Medical Genetics. 2003;122 A(1):70-75.
  15

• 32.

  2002

  Jennifer H. Farrior; David D. Weaver; Thomas F. Kling; Eugene Klatte

  Progressive vertebral fusion of unknown etiology: A case report

  American Journal of Medical Genetics. 2002;112(2):221-227.
  2

• 33.

  2001

  Laurence E. Walsh; Gail H. Vance; David D. Weaver

  Distal 13q deletion syndrome and the VACTERL association: Case report, literature review, and possible implications

  American Journal of Medical Genetics. 2001;98(2):137-144.
  36

• 34.

  2001

  Cheryl Huffman; Dani McCandless; Rama Jasty; Joseph Matloub; Haynes B. Robinson; David D. Weaver; M. Michael Cohen Jr.

  Weaver syndrome with neuroblastoma and cardiovascular anomalies

  American Journal of Medical Genetics. 2001;99(3):252-255.
  6

• 35.

  2001

  Patricia G. Wheeler; David D. Weaver

  Reply to shaffer regarding reply to "Burning Down DEFECT11"

  American Journal of Medical Genetics. 2001;103(2):181.
  2

• 36.

  2000

  A.E. Lin; E.V. Semina; S. Daack-Hirsch; E.R. Roeder; C.J.R. Curry; K. Rosenbaum; D.D. Weaver; J.C. Murray

  Erratum: Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome (American Journal of Medical Genetics (2000) 91 (387-390))

  American Journal of Medical Genetics. 2000;93(2):169.
  1

• 37.

  2000

  Patricia G. Wheeler; Charmian A. Quigley; Ab Sadeghi-Nejad; David D. Weaver

  Hypogonadism and CHARGE association

  American Journal of Medical Genetics. 2000;94(3):228-231.
  18

• 38.

  2000

  Angela E. Lin; Elena V. Semina; Sandra Daack-Hirsch; Elizabeth R. Roeder; Cynthia J.R. Curry; Kenneth Rosenbaum; David D. Weaver; Jeffrey C. Murray

  Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome

  American Journal of Medical Genetics. 2000;91(5):387-390.
  13

• 39.

  2000

  Maria A. Ramos-Arroyo; Alberto Valiente; Elias Rodriguez-Toral; Angel M. Alonso; Sira Moreno; David D. Weaver

  Familial choanal atresia with maxillary hypoplasia, prognathism, and hypodontia

  American Journal of Medical Genetics. 2000;95(3):237-240.
  3

• 40.

  1999

  Lola Cook; David D. Weaver; James K. Hartsfield Jr.; Gail H. Vance

  De novo 10q22 interstitial deletion

  Journal of Medical Genetics. 1999;36(1):71-72.
  4

• 41.

  1999

  David C. Ragan; Anthony J. Casale; Richard C. Rink; Mark P. Cain; David D. Weaver

  Genitourinary anomalies in the charge association

  Journal of Urology. 1999;161(2):622-625.
  29

• 42.

  1999

  A. Sommer; M. Lubinsky; M. Cichon; N.N. Gilpin; D.D. Weaver; M.J. Ahrens; V.L. Hagen; P.M. Rinehart

  Minimum guidelines for the delivery of prenatal genetics services. The evaluation of clinical services subcommittee, Great Lakes Regional Genetics Group.

  Genetics in medicine : official journal of the American College of Medical Genetics. 1999;1(5):233-234.
  0

• 43.

  1999

  Istvan Takacs; Heather Cooper; David D. Weaver; Michael J. Econs

  Bone mineral density and laboratory evaluation of a type II autosomal dominant osteopetrosis carrier

  American Journal of Medical Genetics. 1999;85(1):9-12.
  7

• 44.

  1999

  Cynthia A. Moore; Cynthia J.R. Curry; Paula S. Henthorn; John A. Smith; J. Charles Smith; Patricia O'Lague; Stephen P. Coburn; David D. Weaver; Michael P. Whyte

  Mild autosomal dominant hypophosphatasia: In utero presentation in two families

  American Journal of Medical Genetics. 1999;86(5):410-415.
  28

• 45.

  1998

  Jennifer Peet; David D. Weaver; Gail H. Vance

  49,XXXXY: A distinct phenotype. Three new cases and review

  Journal of Medical Genetics. 1998;35(5):420-424.
  43

• 46.

  1998

  Jr. Hartsfield J.K.; M.J. Adelsperger; D.D. Weaver

  Polysyndactyly of the proximal phalanges and occipital meningocele in oral facial digital syndrome type VI (Varadi syndrome)

  Journal of Craniofacial Genetics and Developmental Biology. 1998;18(1):7.
  0

• 47.

  1998

  Patricia G. Wheeler; Safdar Medina; Anna Dusick; Marilyn J. Bull; Sharon P. Andreoli; Mary Edwards-Brown; David D. Weaver

  Livedo reticularis, developmental delay and stroke-like episode in a 7- year-old male

  Clinical Dysmorphology. 1998;7(1):69-74.
  6

• 48.

  1998

  John M. Opitz; David W. Weaver; James F. Reynolds Jr.

  The syndromes of Sotos and Weaver: Reports and review

  American Journal of Medical Genetics. 1998;79(4):294-304.
  81

• 49.

  1998

  Virginia K. Proud; Stephen R. Braddock; Lola Cook; David D. Weaver

  Weaver syndrome: Autosomal dominant inheritance of the disorder

  American Journal of Medical Genetics. 1998;79(4):305-310.
  16

• 50.

  1998

  Mahvash Khosravi; David D. Weaver; Marilyn J. Bull; Ralph Lachman; David L. Rimoin

  Lethal syndrome of skeletal dysplasia and progressive central nervous system degeneration

  American Journal of Medical Genetics. 1998;77(1):63-71.
  4

• 51.

  1997

  Patricia G. Wheeler; David D. Weaver; Mercy O. Obeime; Gail H. Vance; Marilyn J. Bull; Luis F. Escobar

  Urorectal septum malformation sequence: Report of thirteen additional cases and review of the literature

  American Journal of Medical Genetics. 1997;73(4):456-462.
  30

• 52.

  1997

  Aiwu Zhang; David D. Weaver; Catherine G. Palmer

  Molecular cytogenetic identification of four X chromosome duplications

  American Journal of Medical Genetics. 1997;68(1):29-38.
  24

• 53.

  1996

  T.D. Van Meter; D.D. Weaver

  Oculo-auriculo-vertebral spectrum and the CHARGE association: Clinical evidence for a common pathogenetic mechanism

  Clinical Dysmorphology. 1996;5(3):187-196.
  39

• 54.

  1995

  P.G. Wheeler; D.D. Weaver; C.G. Palmer

  Familial translocation resulting in Wolf-hirschhorn syndrome in two related unbalanced individuals: Clinical evaluation of a 39-year-old man with Wolf-Hirschhorn syndrome

  American Journal of Medical Genetics. 1995;55(4):462-465.
  18

• 55.

  1995

  C.G. Palmer; J.-L. Blouin; M.J. Bull; P. Breitfeld; G.H. Vance; T. Van Meter; D.D. Weaver; N.A. Heerema; S.G. Colbern; J.R. Korenberg; et al.

  Cytogenetic and molecular analysis of a ring (21) in a patient with partial trisomy 21 and megakaryocytic leukemia

  American Journal of Medical Genetics. 1995;57(4):527-536.
  15

• 56.

  1994

  M. McCool; D.D. Weaver

  Branchio-oculo-facial syndrome: Broadening the spectrum

  American Journal of Medical Genetics. 1994;49(4):414-421.
  13

• 57.

  1994

  R. Mewar; W. Harrison; D.D. Weaver; C. Palmer; M.A. Davee; J. Overhauser

  Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype

  American Journal of Medical Genetics. 1994;52(2):178-183.
  24

• 58.

  1994

  Karen Greendale; Cam Knutson; Susan P. Pauker; Linda Lustig; David D. Weaver

  Quality assurance in the clinical genetics setting-Report of a workshop

  Journal of Genetic Counseling. 1994;3(3):169-198.
  1

• 59.

  1993

  T.D. Van Meter; D.D. Weaver; C. Hayward; D.J.H. Brock

  Concerns about the genetics of pre-eclampsia [1]

  American Journal of Human Genetics. 1993;52(5):1012-1014.
  0

• 60.

  1993

  L.A. Moore; C.A. Moore; J.A. Smith; D.D. Weaver

  Asymmetric and symmetric long bone bowing in two sibs: An apparently new bone dysplasia

  American Journal of Medical Genetics. 1993;47(7):1072-1077.
  4

• 61.

  1993

  P.G. Wheeler; D.D. Weaver; W.B. Dobyns

  Benign hereditary chorea

  Pediatric Neurology. 1993;9(5):337-340.
  12

• 62.

  1993

  K. Young; C.K. Barth; C. Moore; D.D. Weaver

  Otopalatodigital syndrome type II associated with omphalocele: Report of three cases

  American Journal of Medical Genetics. 1993;45(4):481-487.
  16

• 63.

  1993

  D.D. Weaver; D. Baker; M. Theobald; F. Cohen; R.A. King; S. Krueger; R. Laxova; M.S. Lubinsky

  Minimum guidelines for the delivery of clinical genetics services [1]

  American Journal of Human Genetics. 1993;53(1):287-289.
  5

• 64.

  1992

  A.H. Lipson; D.D. Weaver

  Hypoglossia-hypodactyly syndrome with hydrocephalus [1]

  Journal of Medical Genetics. 1992;29(4):287.
  1

• 65.

  1991

  M.A. Ramos-Arroyo; D.D. Weaver; E.R. Banks

  Weaver syndrome: A case without early overgrowth and review of the literature

  Pediatrics. 1991;88(6):1106-1111.
  9

• 66.

  1990

  J.M. Jackson; A.M. Sadove; D.D. Weaver; M.K. Edwards; M.J. Bull

  Unilateral duplication of the cerebellar hemisphere and internal, middle, and external ear: A clinical case study

  Plastic and Reconstructive Surgery. 1990;86(3):550-553.
  3

• 67.

  1990

  L.F. Escobar; D. Bixler; L.M. Padilla; D.D. Weaver; C.J. Williams

  A morphometric analysis of the fetal craniofacies by ultrasound: Fetal cephalometry

  Journal of Craniofacial Genetics and Developmental Biology. 1990;10(1):19-27.
  6

• 68.

  1990

  C.A. Moore; D.D. Weaver; M.J. Bull

  Fetal brain disruption sequence

  Journal of Pediatrics. 1990;116(3):383-386.
  11

• 69.

  1990

  L.F. Escobar; D. Bixler; D.D. Weaver; L.-M. Padilla; A. Golichowski

  Bone dysplasias: The prenatal diagnostic challenge

  American Journal of Medical Genetics. 1990;36(4):488-494.
  14

• 70.

  1990

  T. Lipson; W. Webster; D.D. Weaver

  The Moebius syndrome: Aetiology, incidence of mental retardation, and genetics

  Journal of Medical Genetics. 1990;27(8):533-534.
  6

• 71.

  1989

  C.A. Moore; D.D. Weaver

  Familial distal arthrogryposis with craniofacial abnormalities: A new subtype of type II?

  American Journal of Medical Genetics. 1989;33(2):231-237.
  11

• 72.

  1989

  R.A. Helmuth; D.D. Weaver; E.R. Wills

  Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism

  American Journal of Medical Genetics. 1989;32(2):178-181.
  8

• 73.

  1989

  L.F. Escobar; D. Bixler; D.D. Weaver; M.J. Bull; P. Bader

  Larsen syndrome and craniosynostosis: Idaho syndrome?

  Dysmorphology and Clinical Genetics. 1989;3(2):24-27.
  1

• 74.

  1988

  L.F. Escobar; D. Bixler; L.M. Padilla; D.D. Weaver

  Fetal craniofacial morphometrics: In utero evaluation at 16 weeks' gestation

  Obstetrics and Gynecology. 1988;72(4):674-679.
  9

• 75.

  1988

  C.A. Moore; J.P. Harmon; L.-M. Padilla; V.B. Castro; D.D. Weaver

  Neural tube defects and omphalocele in trisomy 18

  Clinical Genetics. 1988;34(2):98-103.
  13

• 76.

  1988

  D.D. Weaver

  A survey of prenatally diagnosed disorders

  Clinical Obstetrics and Gynecology. 1988;31(2):253-269.
  0

• 77.

  1988

  C.A. Moore; D.D. Weaver; W.E. DeMyer

  An unusual craniofacial condition: Holoprosencephaly, ocular hyperterolism, and anterior encephalocele associated with tissue bands

  Dysmorphology and Clinical Genetics. 1988;2(3):68-71.
  2

• 78.

  1987

  D.D. Weaver; S.L. Sherman

  A counseling guide to the Martin-Bell syndrome.

  American Journal of Medical Genetics - Seminars in Medical Genetics. 1987;26(1):39-44.
  0

• 79.

  1987

  J.N. Bouwes Bavinck; D.D. Weaver; F.D. Ellis; R.E. Ward

  Brief clinical report: A syndrome of microcephaly, eye anomalies, short stature, and mental deficiency

  American Journal of Medical Genetics. 1987;26(4):825-831.
  8

• 80.

  1987

  D.D. Weaver; L.F. Escobar

  Twenty-four ways to have children.

  American Journal of Medical Genetics - Seminars in Medical Genetics. 1987;26(3):737-740.
  0

• 81.

  1987

  L.F. Escobar; D.D. Weaver; D. Bixler; M.E. Hodes; M. Mitchell

  Urorectal septum malformation sequence. Report of six cases and embryological analysis

  American Journal of Diseases of Children. 1987;141(9):1021-1024.
  44

• 82.

  1986

  J.N.B. Bavinck; D.D. Weaver

  Subclavian artery supply disruption sequence: Hypothesis of a vascular etiology for Poland, Klippel-Feil, and Mobius anomalies

  American Journal of Medical Genetics. 1986;23(4):903-918.
  247

• 83.

  1986

  D.D. Weaver; C.L. Mapstone; P.-L. Yu

  The VATER association: Analysis of 46 patients

  American Journal of Diseases of Children. 1986;140(3):225-229.
  88

• 84.

  1986

  C.L. Mapstone; D.D. Weaver; P.-L. Yu

  Analysis of growth in the VATER association

  American Journal of Diseases of Children. 1986;140(4):386-390.
  6

• 85.

  1986

  J.F. Smurl; D.D. Weaver

  Presymptomatic testing for Huntington chorea: Guidelines for moral and social accountability

  American Journal of Medical Genetics. 1986;26(2):247-257.
  4

• 86.

  1986

  M.J. Pettenati; J.L. Haines; R.R. Higgins; R.S. Wappner; C.G. Palmer; D.D. Weaver

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

  Human Genetics. 1986;74(2):143-154.
  106

• 87.

  1985

  M.A.R. Arroyo; D.D. Weaver; R.K. Beals

  Congenital contractural arachnodactyly. Report of four additional families and review of literature

  Clinical Genetics. 1985;27(6):570-581.
  36

• 88.

  1985

  J.M. Opitz; D.D. Weaver

  Editorial comment: The neurofibromatosis-Noonan syndrome

  American Journal of Medical Genetics. 1985;21(3):477-490.
  42

• 89.

  1985

  Lynn Mahony; William E. Scully; David D. Weaver; Donald A. Girod; John W. Brown; Randall L. Caldwell; Roger A. Hurwitz

  Patent ductus arteriosus, atrial septal defect and branch pulmonary artery stenosis: A possible new syndrome

  The American Journal of Cardiology. 1985;55(6):859-860.
  0

• 90.

  1984

  J.D. Wilson; B.R. Carlson; D.D. Weaver; W.J. Kovacs; J.E. Griffin

  Endocrine and genetic characterization of cousins with male pseudohermaphroditism: Evidence that the Lubs phenotype can result from a mutation that alters the structure of the androgen receptor

  Clinical Genetics. 1984;26(4):363-370.
  0

• 91.

  1984

  J.F. Smurl; D.D. Weaver; A. Jarmas; L.M. Padilla

  Ethical considerations in medical genetics - The prenatal diagnosis of hemophilia B

  American Journal of Medical Genetics. 1984;17(4):773-781.
  0

• 92.

  1984

  W.J. Kovacs; J.E. Griffin; D.D. Weaver; B.R. Carlson; J.D. Wilson

  A mutation that causes lability of the androgen receptor under conditions that normally promote transformation to the DNA-binding state

  Journal of Clinical Investigation. 1984;73(4):1095-1104.
  20

• 93.

  1984

  L.J. Russell; D.D. Weaver; M.J. Bull; M. Weinbaum

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

  American Journal of Medical Genetics. 1984;17(2):509-521.
  16

• 94.

  1984

  E.L. Kawira; D.D. Weaver; H.A. Bender

  Acrofacial dysostosis with severe facial clefting and limb reduction

  American Journal of Medical Genetics. 1984;17(3):641-647.
  8

• 95.

  1984

  O.N. Markand; B.P. Garg; D.D. Weaver

  Familial startle disease (hyperexplexia). Electrophysiologic studies

  Archives of Neurology. 1984;41(1):71-74.
  18

• 96.

  1984

  R.S. Young; D.D. Weaver; M.K. Kukolich; N.A. Heerema; C.G. Palmer; E.L. Kawira; H.A. Bender

  Terminal and interstitial deletions of the long arm of chromosome 7: A review with five new cases

  American Journal of Medical Genetics. 1984;17(2):437-450.
  22

• 97.

  1983

  M.J. Bull; A.L. Norins; D.D. Weaver; T. Weber; M. Mitchell

  Epidermolysis bullosa - pyloric atresia. An autosomal recessive syndrome

  American Journal of Diseases of Children. 1983;137(5):449-451.
  22

• 98.

  1983

  S. Schwartz; C.G. Palmer; D.D. Weaver; J. Priest

  Dicentric chromosome 13 and centromere inactivation

  Human Genetics. 1983;63(4):332-337.
  3

• 99.

  1983

  V. Escobar; L.I. Goldblatt; D. Bixler; D. Weaver

  Clouston syndrome: an ultrastructural study.

  Clinical Genetics. 1983;24(2):140-146.
  7

• 100.

  1983

  C.G. Palmer; A.J. Provisor; D.D. Weaver; M.E. Hodes; N. Heerema

  Juvenile chronic granulocytic leukemia in a patient with trisomy 8, neurofibromatosis, and prolonged Epstein-Barr virus infection

  The Journal of Pediatrics. 1983;102(6):888-892.
  12

• 101.

  1983

  A.L. Jarmas; D.D. Weaver; L.M. Padilla; E. Stecker; H.A. Bender

  Hirschsprung disease: Etiologic implications of unsuccessful prenatal diagnosis

  American Journal of Medical Genetics. 1983;16(2):163-167.
  1

• 102.

  1983

  S.D. Kittur; D.D. Weaver; M.D. Maves

  Syndrome identification case report 95: Congenital fusion of the gums and jaws

  Journal of Clinical Dysmorphology. 1983;1(2):2-4.
  1

• 103.

  1982

  D.J. Morley; D.D. Weaver; B.P. Garg; O. Markand

  Hyperexplexia: An inherited disorder of the startle response

  Clinical Genetics. 1982;21(6):388-396.
  23

• 104.

  1982

  D.D. Weaver; D.J. Morley; B.P. Garg; O. Markand

  Hyperexplexia: not hereditary stiff-baby syndrome.

  American Journal of Diseases of Children. 1982;136(6):562.
  2

• 105.

  1982

  E.A. Keitges; C.G. Palmer; D.D. Weaver

  Pericentric X inversion in dizygotic twins who differ in X chromosome inactivation and menstrual cycle function

  Human Genetics. 1982;62(3):210-213.
  4

• 106.

  1982

  M.G. Butler; D.D. Weaver; F.J. Meaney

  Prader-Willi syndrome: Are there population differences?

  Clinical Genetics. 1982;22(5):292-294.
  5

• 107.

  1981

  L.J. Russell; D.D. Weaver; M.J. Bull

  The axial mesodermal dysplasia spectrum

  Pediatrics. 1981;67(2):176-182.
  75

• 108.

  1981

  A.L. Jarmas; D.D. Weaver; F.D. Ellis; A. Davis

  Microcephaly, microphthalmia, falciform retinal folds, and blindness. A new syndrome

  American Journal of Diseases of Children. 1981;135(10):930-933.
  10

• 109.

  1981

  S.R. Stephenson; D.D. Weaver

  Prenatal diagnosis - A compilation of diagnosed conditions

  American Journal of Obstetrics and Gynecology. 1981;141(3):319-343.
  1

• 110.

  1981

  R.E. Harris; R.L. Baehner; S. Gleiser; D.D. Weaver; M.E. Hodes

  Cartilage-hair hypoplasia, defective T-cell function, and Diamond-Blackfan anemia in an Amish child

  American Journal of Medical Genetics. 1981;8(3):291-297.
  7

• 111.

  1981

  I.M. Jones; C.G. Palmer; D.D. Weaver; M.E. Hodes

  Study of two cases of ring 13 chromosome using high-resolution banding

  American Journal of Human Genetics. 1981;33(2):252-261.
  5

• 112.

  1981

  M.E. Hodes; S. Gleiser; G.P. DeRosa; H.Y. Yune; D.A. Girod; D.D. Weaver; C.G. Palmer

  Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia

  Journal of Craniofacial Genetics and Developmental Biology. 1981;1(1):49-55.
  36

• 113.

  1980

  D.D. Weaver; J.C. Christian

  Familial variation of head size and adjustment for parental head circumference

  Journal of Pediatrics. 1980;96(6):990-994.
  36

• 114.

  1980

  C.G. Palmer; T.W. Hubbard; G.W. Henry; D.D. Weaver

  Failure of X inactivation in the autosomal segment of an X/A translocation

  American Journal of Human Genetics. 1980;32(2):179-187.
  6

• 115.

  1978

  V. Escobar; S. Gleiser; D.D. Weaver

  Phenotypic and genetic analysis of the Silver-Russell syndrome

  Clinical Genetics. 1978;13(3):278-288.
  24

• 116.

  1978

  S. Gleiser; D.D. Weaver; V. Escobar; G. Nichols; M. Escobedo

  Femoral hypoplasia-unusual facies syndrome, from another viewpoint

  European Journal of Pediatrics. 1978;128(1):1-5.
  8

• 117.

  1978

  V. Escobar; D. Weaver

  Popliteal pterygium syndrome. A phenotypic and genetic analysis

  Journal of Medical Genetics. 1978;15(1):35-42.
  8

• 118.

  1978

  V. Escobar; D.D. Weaver

  The facio-genito-popliteal syndrome

  Birth Defects: Original Article Series. 1978;14(6 B):185-192.
  2

• 119.

  1978

  S. Gleiser; D.D. Weaver; M. Escobedo; G. Nichols

  Femoral hypoplasia - unusual facies syndrome

  Birth Defects: Original Article Series. 1978;14(6 B):370-371.
  0

• 120.

  1978

  C.J. Sisk; M.E. Hodes; D.D. Weaver

  Microcephaly and the caudal regression anomalad

  Birth Defects: Original Article Series. 1978;14(6 B):379-380.
  0

• 121.

  1978

  V. Escobar; D.D. Weaver

  Aarskog syndrome. New findings and genetic analysis

  Journal of the American Medical Association. 1978;240(24):2638-2641.
  7

• 122.

  1978

  V. Escobar; D. Bixler; S. Gleiser; D.D. Weaver; T. Gibbs

  Multiple pterygium syndrome

  American Journal of Diseases of Children. 1978;132(6):609-611.
  38

• 123.

  1977

  T.J. Hausam; D.D. Weaver; G.H. Prescott

  The occurrence of an Apert-like syndrome and the vater association in twins

  Birth Defects: Original Article Series. 1977;13(3 C):239.
  0

• 124.

  1977

  G.L. Feldman; D.D. Weaver; E.W. Lovrien

  The fetal trimethadione syndrome

  American Journal of Human Genetics. 1977;29(6):41A.
  0

• 125.

  1977

  D.D. Weaver; C.P.S. Williams

  A syndrome of microcephaly, mental retardation, unusual facies, cleft palate, and weight deficiency

  Birth Defects: Original Article Series. 1977;13(3 B):69-84.
  1

• 126.

  1977

  V. Escobar; J. Eastman; D. Weaver; M. Melnick

  Maxillofacial dysostosis

  Journal of Medical Genetics. 1977;14(5):355-358.
  2

• 127.

  1977

  G.L. Feldman; D.D. Weaver; E.W. Lovrien

  The fetal trimethadione syndrome: report of an additional family and further delineation of this syndrome.

  American Journal of Diseases of Children. 1977;131(12):1389-1392.
  9

• 128.

  1976

  G. Higginson; D.D. Weaver; R.E. Magenis; G.H. Prescott; C. Haag; D.J. Hepburn

  Interstitial deletion of the long arm of chromosome no. 7 (7q) in an infant with multiple anomalies

  Clinical Genetics. 1976;10(5):307-312.
  7

• 129.

  1975

  D.D. Weaver; J.G. Hall

  A rare form of arthrogryposis

  Birth Defects: Original Article Series. 1975;11(5):346.
  0

• 130.

  1975

  D.D. Weaver; S.M. Gartler; A. Boue; J.G. Boue

  Evidence for two active X chromosomes in a human XXY triploid

  HUMANGENETIK. 1975;28(1):39-42.
  4

• 131.

  1974

  D.D. Weaver; C.B. Graham; I.T. Thomas; D.W. Smith

  A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly

  Journal of Pediatrics. 1974;84(4):547-552.
  44

• 132.

  1974

  D.D. Weaver; M.M. Cohen; D.W. Smith

  The tricho rhino phalangeal syndrome

  Journal of Medical Genetics. 1974;11(3):312-314.
  2

• 133.

  1970

  E.M. Scott; D.D. Weaver; R.C. Wright

  Discrimination of phenotypes in human serum cholinesterase deficiency.

  American Journal of Human Genetics. 1970;22(4):363-369.
  2

• 134.

  1970

  Edward M. Scott; David D. Weaver

  Electrophoresis in starch gel of human serum cholinesterase

  Biochemical medicine. 1970;4(3-4):349-352.
  0

• 135.

  1969

  E.M. Scott; R.C. Wright; D.D. Weaver

  The discrimination of phenotypes for rate of disappearance of isonicotinoyl hydrazide from serum.

  Journal of Clinical Investigation. 1969;48(7):1173-1176.
  1