J. Roberson

发表

A Novel SERPINA1 Mutation Causing Serum Alpha1-Antitrypsin Deficiency

E. Tindall, V. Hayes, D. Saunders, 2012, PloS one.

Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome.

B. Mcgillivray, C. Venditti, D. Smith, 1996, Journal of medical genetics.

Prenatal diagnosis of 22q11.2 deletion when ultrasound examination reveals a heart defect

A. Wiktor, J. Roberson, S. Manji, 2001, Genetics in Medicine.

Prenatal identification of a girl with a t(X;4)(p21;q35) translocation: molecular characterisation, paternal origin, and association with muscular dystrophy.

P. Ray, L. Weiss, R. Worton, 1990, Journal of medical genetics.

Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy

D. Stockton, J. Roberson, Kuntal Sen, 2021, AJP reports.

Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG-->ATG) mutation.

G. Lenoir, G. Feldman, P. Ainsworth, 2000, Surgery.

Duplication and deletion 11q23-q24 recombinants in two offspring of an intrachromosomal insertion ("shift") carrier.

L. Weiss, D. V. Van Dyke, M. Worsham, 1988, Henry Ford Hospital medical journal.

Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non‐syndromic split‐hand/foot malformation

C. T. Morgan, S. Antonarakis, R. Lyle, 2006, American journal of medical genetics. Part A.

Mental retardation in Turner syndrome.

L. Weiss, D. V. Van Dyke, A. Wiktor, 1991, The Journal of pediatrics.

Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation.

D. Miller, L. Weiss, D. V. Van Dyke, 1992, American journal of medical genetics.

Interstitial deletion of chromosome 10, del(10) (q11.2q22.1) in a boy with developmental delay and multiple congenital anomalies.

L. Weiss, D. V. Van Dyke, J. Roberson, 1993, American journal of medical genetics.

Mother and son with deletion of 3p25-pter.

L. Weiss, D. V. Van Dyke, J. Roberson, 1991, American journal of medical genetics.

Trisomy 20 mosaicism identified prenatally and confirmed in foreskin fibroblasts

L. Weiss, D. V. Van Dyke, M. Tyrkus, 1989, Prenatal diagnosis.

Recurrence Rate for Isolated Elevated Maternal Serum Alpha-Fetoprotein Levels and Pregnancy Outcomes.

M. Ayyash, M. Shaman, J. Roberson, 2022, Genetic testing and molecular biomarkers.

The frequency and mutation rate of balanced autosomal rearrangements in man estimated from prenatal genetic studies for advanced maternal age.

L. Weiss, D. V. Van Dyke, J. Roberson, 1983, American journal of human genetics.

Duplication 6q21q23 in two unrelated patients.

L. Weiss, V. Pratt, D. V. Van Dyke, 1998, American journal of medical genetics.

Regarding trisomy 18

R. Lebel, D. V. Van Dyke, J. Roberson, 2006, American journal of medical genetics. Part A.

Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome.

David I. Smith, B. Mcgillivray, C. Venditti, 1996, Journal of medical genetics.

False‐positive prenatal diagnosis of trisomy 18 by interphase FISH: Hybridization of chromosome 18 alpha‐satellite DNA probe (D18Z1) to the heterochromatic region of chromosome 9

V. Siu, Sainan Wei, A. Adeyinka, 2007, Prenatal diagnosis.