A. Olney

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G. B. Schaefer, A. Olney, 1998 .

G. B. Schaefer, A. Olney, P. Kolodziej, 1998, Ear, nose, & throat journal.

Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34‐36.1: Review of distal 7q deletions

W. Sanger, Jadd M Stevens, E. Rush, 2013, American journal of medical genetics. Part A.

Novel Proximal 14q Deletion: Clinical and Diffusion Tensor Imaging Tractography Findings in a Patient with Lissencephaly, Agenesis of the Corpus Callosum, and Septo-Optic Dysplasia

Y. Zhang, M. White, A. Olney, 2012, American Journal of Neuroradiology.

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

D. Milewicz, L. Ala‐Kokko, Lawrence Buja, 2010, American journal of medical genetics. Part A.

Carriers and patients with muscle–eye–brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts

C. Hawkins, W. Dobyns, P. Ray, 2006, Neuromuscular Disorders.

18q22.3 → 18q23 deletion syndrome and cleft palate

W. Sanger, B. Dave, D. Pickering, 2010, American Journal of Medical Genetics. Part A.

Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations

W. Sanger, B. Dave, D. Pickering, 2008, Genetics in Medicine.

Wiedemann-Beckwith syndrome in apparently discordant monozygotic twins.

A. Olney, B. Buehler, M. Waziri, 1988, American journal of medical genetics.

Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia

A. Bassuk, V. Mahajan, J. Murray, 2010, American journal of medical genetics. Part A.

Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).

C. Boerkoel, D. Lewis, A. Baradaran‐Heravi, 2015, Clinical immunology.

SMARCAL1 deficiency predisposes to non‐Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo

R. Weksberg, M. Shago, C. Boerkoel, 2012, American journal of medical genetics. Part A.

Dental Abnormalities in Schimke Immuno-osseous Dysplasia

J. Charrow, C. Boerkoel, D. Lewis, 2012, Journal of dental research.

Cryptic duplication and deletion of 9q34.3 → qter in a family with a t(9;22)(q34.3;p11.2)

W. Sanger, B. Dave, D. Pickering, 2005, American journal of medical genetics. Part A.

Macrocephaly syndromes.

A. Olney, 2007, Seminars in pediatric neurology.

Report from the workshop on Pallister-Hall syndrome and related phenotypes.

L. Biesecker, J. Graham, A. Verloes, 1996, American journal of medical genetics.

Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

O. Abdul-Rahman, E. Blair, C. Shackleton, 2013, The Journal of clinical endocrinology and metabolism.

Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

O. Abdul-Rahman, R. Harrison, E. Blair, 2013, The Journal of clinical endocrinology and metabolism.

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

L. Biesecker, J. Graham, Seongman Kang, 1997, Nature Genetics.

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

Martin A. M. Reijns, J. Rosenfeld, Sancha Martin, 2018, American journal of human genetics.

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome.

R. Weksberg, D. Chitayat, J. Squire, 2002, Human molecular genetics.

A specific mutation in TBL1XR1 causes Pierpont syndrome

Francesca Forzano, G Bradley Schaefer, Aldo Jongejan, 2016, Journal of Medical Genetics.

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.

D. Ledbetter, C. Martin, J. Allanson, 2003, American journal of human genetics.

Partial deletion of 14q and partial duplication of 14q in sibs: testicular mosaicism for t(14q;14q) as a common mechanism.

W. Sanger, A. Olney, R. Fordyce, 1989, American journal of medical genetics.

Overgrowth syndromes.

A. Olney, 1990, Pediatric annals.

Partial duplication of distal 17q.

J. Opitz, C. Hearty, A. Olney, 1985, American journal of medical genetics.

Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28

K. Gripp, J. Chong, C. Curry, 2014, American journal of medical genetics. Part A.

Hypoplasia of the cerebellar vermis and corpus callosum in thrombocytopenia with absent radius syndrome on MRI studies.

G. B. Schaefer, A. Olney, D. F. Patton, 1994, American journal of medical genetics.

The twenty-five most common multiple congenital anomaly syndromes in Nebraska.

A. Olney, B. Buehler, W. Sanger, 1986, The Nebraska medical journal.

Pallister-Hall Syndrome

A. Olney, Peg Kolodziej, 1998, Ear, nose, & throat journal.

Mapping of the human complement factor I gene to 4q25.

K. Buetow, W. Sanger, C. Morton, 1989, Genomics.

Informed consent for medical photographs

Ann Haskins Olney, C. Stevens, R. Pauli, 2000, Genetics in Medicine.

Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.

A. Schäffer, J. Graham, S. Kang, 1996, Journal of medical genetics.

Hypothalamic dysfunction with polydactyly and hypoplastic nails.

G. B. Schaefer, A. Olney, 1999, Seminars in pediatric neurology.

Brain magnetic resonance imaging findings in the Opitz G/BBB syndrome: extension of the spectrum of midline brain anomalies.

G. B. Schaefer, J. Frías, A. Olney, 1993, American journal of medical genetics.

Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: Patient report and review of 20qter duplications

W. Sanger, D. Pickering, A. Olney, 2014, American Journal of Medical Genetics. Part A.

Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

E. Roeder, D. Cummings, H. Smeets, 2009, Journal of Medical Genetics.

Occurrence of nephroblastomatosis with dup(18)(q11.2‐q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication

W. Sanger, D. Coulter, J. Sanmann, 2014, American journal of medical genetics. Part A.

Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome

W. Sanger, S. Kahler, J. Sanmann, 2012, American journal of medical genetics. Part A.

Myhre syndrome: Clinical features and restrictive cardiopulmonary complications

D. Grange, J. Sanmann, J. Hammel, 2015, American journal of medical genetics. Part A.

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

D. Milewicz, Lawrence Buja, L. Adès, 2010, American journal of medical genetics. Part A.

Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

O. Abdul-Rahman, R. Harrison, E. Blair, 2013, The Journal of clinical endocrinology and metabolism.

Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).

C. Boerkoel, K. Choi, T. Hunley, 2015, Clinical immunology.