O. Abdul-Rahman

发表

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

J. Shendure, J. Rosenfeld, B. V. van Bon, 2012, Nature Genetics.

Prevalence of Fetal Alcohol Spectrum Disorders in 4 US Communities

J. A. Arroyo, C. Coles, R. Xu, 2018, JAMA.

22q11.2 deletion syndrome in diverse populations

A. R. Porras, Yonit A. Addissie, E. Zackai, 2017, American journal of medical genetics. Part A.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Edwin Cuppen, Claire Redin, Ryan L. Collins, 2016, Nature Genetics.

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease

Joshua C. Euteneuer, Denise L. Perry, I. Krantz, 2021, JAMA pediatrics.

Down syndrome in diverse populations

A. R. Porras, Yonit A. Addissie, A. Adeyemo, 2017, American journal of medical genetics. Part A.

Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning.

N. Fleischer, L. Bird, O. Abdul-Rahman, 2020, American journal of medical genetics. Part A.

FETAL ANTICONVULSANT SYNDROME

H. Hoyme, O. Abdul-Rahman, E. Conover, 2021 .

Hypoplastic glomerulocystic kidney disease and hepatoblastoma: a potential association not caused by mutations in hepatocyte nuclear factor 1beta.

A. Hattersley, G. Enns, O. Abdul-Rahman, 2009, Journal of pediatric hematology/oncology.

Noonan syndrome in diverse populations

A. R. Porras, Yonit A. Addissie, R. Stevenson, 2017, American journal of medical genetics. Part A.

X-Linked Creatine Transporter Deficiency Presenting as a Mitochondrial Disorder

J. Vockley, O. Abdul-Rahman, M. Friez, 2010, Journal of child neurology.

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

C. Schwartz, J. T. Dunnen, O. Abdul-Rahman, 2011, European Journal of Human Genetics.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

A. Munnich, C. Schwartz, P. Pouwels, 2013, Journal of Medical Genetics.

7q11.23 Duplication syndrome: Physical characteristics and natural history

C. Mervis, C. Morris, A. Rope, 2015, American journal of medical genetics. Part A.

Large contiguous gene deletions in Sjögren-Larsson syndrome.

W. Sanger, M. K. Rudd, O. Abdul-Rahman, 2011, Molecular genetics and metabolism.

Molecular and pathological identification of feline coronavirus type I

O. Abdul-Rahman, Al-Jawabreh Amer, H. Mohd, 2012 .

An immunological basis of hyperphagia driven by GABAergic dysfunction in Prader-Willi Syndrome.

O. Abdul-Rahman, U. Rout, D. Dhossche, 2012, Medical hypotheses.

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

Donna M. Martin, U. Broeckel, O. Abdul-Rahman, 2011, Human Genetics.

Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes

Terrie E. Kitchner, Deborah M. Costakos, C. McCarty, 2016, Molecular vision.

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy

Janice S. Lee, F. Collins, E. Jabs, 2021, Human Genetics.

Duplication Syndrome : Physical Characteristics and Natural History

C. Mervis, C. Morris, A. Rope, 2015 .

Chromosome 22q11.2 deletion syndrome in African‐American patients: A diagnostic challenge

K. Coleman, M. Lyons, V. Shashi, 2011, American journal of medical genetics. Part A.

An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease

S. Packman, O. Abdul-Rahman, P. Tanpaiboon, 2018, Genetics in Medicine.

Evaluating a general pediatric/adult genetic counseling clinic in a Midwest medical center

O. Abdul-Rahman, Kristen P Fishler, Kristen P. Fishler, 2022, Journal of genetic counseling.

Success rates for consent and collection of prenatal biological specimens in an epidemiologic survey of child health.

O. Abdul-Rahman, J. Botkin, J. Moye, 2016, Birth defects research. Part A, Clinical and molecular teratology.

A New Leukocyte Hyperadhesion Syndrome of Delayed Cord Separation, Skin Infection, and Nephrosis

N. Hogg, O. Abdul-Rahman, W. Daley, 2014, Pediatrics.

Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability

J. Gécz, J. Mandel, O. Abdul-Rahman, 2018, Human molecular genetics.

Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7

O. Abdul-Rahman, I. Touitou, R. Slim, 2012, European Journal of Human Genetics.

Systemic Hyalinosis: A Distinctive Early Childhood–Onset Disorder Characterized by Mutations in the Anthrax Toxin Receptor 2 Gene (ANTRX2)

C. Sandborg, H. Hoyme, J. Martignetti, 2006, Pediatrics.

Prevalence and Characteristics of Fetal Alcohol Spectrum Disorders

H. Hoyme, P. May, David Buckley, 2014, Pediatrics.

Fetal Alcohol Spectrum Disorders in a Southeastern County of the United States: Child Characteristics and Maternal Risk Traits.

B. Tabachnick, H. Hoyme, P. May, 2020, Alcoholism, clinical and experimental research.

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.

Cryptococcal sepsis diagnosed by bone marrow examination.

O. Abdul-Rahman, G. Megason, E. Caldwell, 2004, Journal of pediatric hematology/oncology.

Novel variants in CDH2 are associated with a new syndrome including Peters anomaly

E. Zackai, O. Abdul-Rahman, J. Kalish, 2019, Clinical genetics.

Mutation analysis of B3GALTL in Peters Plus syndrome

J. Hoffman, O. Abdul-Rahman, Aneal Khan, 2008, American journal of medical genetics. Part A.

Neuromotor synapses in Escobar syndrome

Karyn G. Robinson, R. Akins, O. Abdul-Rahman, 2013, American journal of medical genetics. Part A.

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Yves Moreau, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2012, Nature Genetics.

A report of three patients with an interstitial deletion of chromosome 15q24

A. Cherry, O. Abdul-Rahman, G. Vance, 2005, American journal of medical genetics. Part A.

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, Genome Medicine.

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

Bradley P. Coe, Jessie H. Conta, B. Coe, 2015, European Journal of Human Genetics.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Marni J. Falk, E. Zackai, C. Cytrynbaum, 2021, American journal of medical genetics. Part A.

FOXP1 mutations cause intellectual disability and a recognizable phenotype

M. Shaw, J. Gécz, D. Horn, 2013, American journal of medical genetics. Part A.

Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder

R. Schüle, R. Lodi, Yaping Yang, 2015, Nature Genetics.

Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Arthur S. Lee, Hiromi Hirata, D. Baralle, 2019, Human mutation.

Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency

William B Dobyns, Christa Lese Martin, C. Martin, 2010, European Journal of Human Genetics.

Fetal Alcohol Spectrum Disorders in a Midwestern City: Child Characteristics, Maternal Risk Traits, and Prevalence.

B. Tabachnick, H. Hoyme, P. May, 2020, Alcoholism, clinical and experimental research.

Updated Clinical Guidelines for Diagnosing Fetal Alcohol Spectrum Disorders

C. Coles, E. Riley, H. Hoyme, 2016, Pediatrics.

Ocular measurements in fetal alcohol spectrum disorders

B. Tabachnick, H. Hoyme, P. May, 2020, American journal of medical genetics. Part A.

A South African mixed race lip/philtrum guide for diagnosis of fetal alcohol spectrum disorders

H. Hoyme, P. May, David Buckley, 2015, American journal of medical genetics. Part A.

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.

R. Gibbs, S. Robertson, M. Bainbridge, 2012, American journal of human genetics.

Assessment of congenital anomalies in infants born to pregnant women enrolled in clinical trials.

S. Hernández-Díaz, S. Rasmussen, J. Carey, 2014, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Genitopatellar syndrome: Expanding the phenotype and excluding mutations in LMX1B and TBX4

G. Enns, O. Abdul-Rahman, S. Schlaubitz, 2006, American journal of medical genetics. Part A.

Congenital Amegakaryocytic Thrombocytopenia: A Case Series Indicating 2 Founder Variants in the Mississippi Band of Choctaw Indians.

O. Abdul-Rahman, G. Megason, Laura A. Newman, 2017, Journal of pediatric hematology/oncology.

Estimating the community prevalence, child traits, and maternal risk factors of fetal alcohol spectrum disorders (FASD) from a random sample of school children.

H. Hoyme, P. May, David Buckley, 2021, Drug and alcohol dependence.

Fetal Alcohol Spectrum Disorders in a Rocky Mountain Region City: Child Characteristics, Maternal Risk Traits, and Prevalence.

B. Tabachnick, H. Hoyme, P. May, 2020, Alcoholism, clinical and experimental research.

Ovotestes and XY sex reversal in a female with an interstitial 9q33.3‐q34.1 deletion encompassing NR5A1 and LMX1B causing features of genitopatellar syndrome

Laurie D. Smith, P. Stankiewicz, W. Reardon, 2007, American journal of medical genetics. Part A.

Whole‐genome copy number variation analysis in anophthalmia and microphthalmia

U. Broeckel, O. Abdul-Rahman, A. Schneider, 2013, Clinical genetics.

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

J. Chilton, R. Blakely, O. Abdul-Rahman, 2017, Brain : a journal of neurology.

Optic Nerve Enlargement in Krabbe Disease: A Pathophysiologic and Clinical Perspective

O. Abdul-Rahman, H. Zimmerman, M. Khan, 2011, Journal of child neurology.

Phenotypical manifestations of partial trisomy 9 and monosomy 4 in two siblings

Tuan V. Nguyen, O. Abdul-Rahman, Jun Zhang, 2008, Neurological Sciences.

Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks

E. Zackai, K. Lage, P. Donahoe, 2012, American journal of medical genetics. Part A.

5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C

M. Vikkula, O. Abdul-Rahman, H. Zimmerman, 2011, American journal of medical genetics. Part A.

5 q 14 . 3 Neurocutaneous Syndrome : A Novel Continguous Gene Syndrome Caused by Simultaneous Deletion of RASA 1 and MEF 2 C

C. Martin, M. Vikkula, O. Abdul-Rahman, 2011 .

The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders

L. Hudgins, O. Abdul-Rahman, 2006, Genetics in Medicine.

Characteristic physical traits of first‐grade children in the United States with fetal alcohol spectrum disorders (FASD) and associated alcohol and drug exposures

H. Hoyme, P. May, David Buckley, 2022, American journal of medical genetics. Part A.

Computer-Aided Recognition of Facial Attributes for Fetal Alcohol Spectrum Disorders

H. Hoyme, P. May, David Buckley, 2017, Pediatrics.

Fetal alcohol spectrum disorders and assessment of maxillary and mandibular arc measurements

H. Hoyme, P. May, L. Robinson, 2016, American journal of medical genetics. Part A.

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

S. Scherer, C. Cytrynbaum, R. Weksberg, 2019, BMC Medical Genomics.

Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease.

O. Abdul-Rahman, P. Tanpaiboon, A. Rosenberg, 2017, JCI insight.

van den Ende–Gupta syndrome: Laryngeal abnormalities in two siblings

O. Abdul-Rahman, R. Lachman, C. Carr, 2007, American journal of medical genetics. Part A.

Fetal alcohol spectrum disorders: current state of diagnosis and treatment

O. Abdul-Rahman, Diego A. Gomez, 2021, Current opinion in pediatrics.

Rubinstein–Taybi syndrome in diverse populations

Yonit A. Addissie, R. Stevenson, N. Brunetti‐Pierri, 2020, 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.

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

Andrei L. Turinsky, S. Scherer, C. Cytrynbaum, 2019, BMC Medical Genomics.

A Term Newborn Who Has Jittery Movements

O. Abdul-Rahman, Henry C. Lee, 2005 .

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.

Nicolaides–Baraitser syndrome: Delineation of the phenotype

Gabriele Gillessen-Kaesbach, Alex Magee, Alain Verloes, 2009, American journal of medical genetics. Part A.

5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C

M. Vikkula, O. Abdul-Rahman, H. Zimmerman, 2011, American journal of medical genetics. Part A.

A South African mixed race lip/philtrum guide for diagnosis of fetal alcohol spectrum disorders

H. Hoyme, P. May, David Buckley, 2015, American Journal of Medical Genetics. Part A.