S. Braddock

发表

Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15‐Month Experience

J. Charrow, B. Burton, D. Waggoner, 2017, The Journal of pediatrics.

Discordant Aortic Valve Morphology in Monozygotic Twins: A Clinical Case Series.

R. Bonow, D. Hui, Richard T. Lee, 2016, JAMA cardiology.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Matthew H. Brush, Gabor T. Marth, John Arul Phillips, 2019, American journal of human genetics.

Solid tumor screening recommendations in trisomy 18

J. Carey, S. Braddock, S. Farmakis, 2019, American journal of medical genetics. Part A.

Identification of proximal 1p36 deletions using array‐CGH: a possible new syndrome

Z. Ou, E. Roeder, V. Enciso, 2007, Clinical genetics.

Cohen Syndrome: Review of the Literature

S. Braddock, H. Fernandes, A. Knutsen, 2018, Cureus.

Septo-optic dysplasia as a manifestation of valproic acid embryopathy.

S. Braddock, C. McMahon, 2001, Teratology.

Health Supervision for Children With Marfan Syndrome

Marilyn C. Jones, R. Saul, Chairperson, 2013 .

Discordant Aortic ValveMorphology inMonozygotic Twins A Clinical Case Series

R. Bonow, D. Hui, Richard T. Lee, 2016 .

Further delineation of METTL23‐associated intellectual disability

F. Alkuraya, E. Faqeih, S. Braddock, 2020, American journal of medical genetics. Part A.

Ethical and Policy Issues in Genetic Testing and Screening of Children

R. Sharp, J. Hoffman, A. Lemke, 2016, Pediatric Clinical Practice Guidelines & Policies.

Weaver syndrome: autosomal dominant inheritance of the disorder.

D. Weaver, V. Proud, S. Braddock, 1998, American journal of medical genetics.

Educating Health Professionals about Fetal Alcohol Spectrum Disorders

D. Wedding, M. O’Connor, G. Guiton, 2007 .

A new recessive syndrome with VATER‐like defects, pulmonary hypertension, abnormal ears, blue sclera, laryngeal webs, and persistent growth deficiency

S. Braddock, 2003, American journal of medical genetics. Part A.

Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants

J. Charrow, B. Burton, G. Hoganson, 2020, International journal of neonatal screening.

Instability of Isochromosome 4p in a Child with Pure Trisomy 4p Syndrome Features and Entire 4q-Arm Translocation

J. Batanian, S. Braddock, Pruthvi Pota, 2015, Cytogenetic and Genome Research.

An unusual presentation of Ehlers–Danlos syndrome vascular type with deep vein thrombosis: A case for multidisciplinary management

M. Lipinski, S. Braddock, Brian Uthlaut, 2009, American journal of medical genetics. Part A.

Rett Syndrome

J. Graham, S. Braddock, Barbara A. Braddock, 1993, Clinical pediatrics.

Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.

J. Charrow, B. Burton, G. Hoganson, 2020, International journal of neonatal screening.

Potential modifier role of the R618Q variant of proalpha2(I)collagen in type I collagen fibrillogenesis: in vitro assembly analysis.

G. F. Krause, S. Braddock, C. Phillips, 2004, Molecular genetics and metabolism.

Potential modiWer role of the R618Q variant of pro 2(I)collagen in type I collagen Wbrillogenesis: in vitro assembly analysis

G. F. Krause, S. Braddock, Anthony N. Vomund, 2004 .

Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2

Ellen F. Macnamara, Harper B. Fauni, J. Holt, 2019, Human mutation.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Beth K. Martin, Martin, J. Shendure, 2016, JCI insight.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

J. Shendure, Martin Kircher, K. Devriendt, 2016, JCI insight.

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

M. Spence, S. Bale, A. Paulussen, 2012, Journal of Medical Genetics.

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

B. Chung, R. Hennekam, L. Biesecker, 2016, American journal of human genetics.

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

M. Dattani, P. Hindmarsh, M. Kempers, 2011, The Journal of clinical endocrinology and metabolism.

Linking Antley–Bixler syndrome and congenital adrenal hyperplasia: A novel case of P450 oxidoreductase deficiency

R. Kelley, S. Braddock, C. Shackleton, 2006, American journal of medical genetics. Part A.

Birth outcomes in women who have taken leflunomide during pregnancy.

R. Xu, K. Jones, L. Robinson, 2010, Arthritis and rheumatism.

Disruption of neurexin 1 associated with autism spectrum disorder.

Yiping Shen, Ilse Noens, Mark J Daly, 2008, American journal of human genetics.

Oculo‐auriculo‐vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: A unique double rearrangement

J. Batanian, S. Braddock, E. Torti, 2013, American journal of medical genetics. Part A.

Frontonasal malformation and the oculoauriculovertebral spectrum: the oculoauriculofrontonasal syndrome.

J. Carey, S. Braddock, L. Morales, 1996, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Further delineation of Kabuki syndrome in 48 well‐defined new individuals

Marc S. Williams, E. Zackai, R. Hennekam, 2005, American journal of medical genetics. Part A.

Rare SUZ12 variants commonly cause an overgrowth phenotype

Steven J. M. Jones, R. Weksberg, L. Bird, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Health Care Supervision for Children With Williams Syndrome

C. Morris, S. Braddock, 2001, Pediatrics.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Ivan K. Chinn, R. Pfundt, B. D. de Vries, 2021, Genetics in Medicine.

Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?

J. Opitz, C. Spaich, S. Braddock, 1999, American journal of medical genetics.

Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B

Dian Donnai, Cynthia Curry, Helena Kääriäinen, 2003, American journal of medical genetics. Part A.

Grade II pilocytic astrocytoma in a 3‐month‐old patient with encephalocraniocutaneous lipomatosis (ECCL): Case report and literature review of low grade gliomas in ECCL

S. Braddock, Martin Reis, S. Elbabaa, 2015, American journal of medical genetics. Part A.

Radiological features in Brachmann-de Lange syndrome.

J. Graham, J. Carey, J. Moeschler, 1993, American journal of medical genetics.

Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1

Tyler B. Johnson, Ruthellen H. Anderson, K. Roux, 2018, Scientific Reports.

MIDWEST FAMILY PHYSICIANS' KNOWLEDGE AND ATTITUDES ABOUT FAS, FASD, AND ALCOHOL USE DURING PREGNANCY

D. Wedding, S. Braddock, M. Mengel, 2006 .

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Gabriele Gillessen-Kaesbach, Maria Kousi, Alessandro Bruselles, 2015, American journal of human genetics.

Development and validation of a measure of dysmorphology: Useful for autism subgroup classification

M. Spence, N. Flournoy, J. Miles, 2008, American journal of medical genetics. Part A.

Redefining the Etiologic Landscape of Cerebellar Malformations.

I. Krantz, D. Nickerson, G. Seelig, 2019, American journal of human genetics.

Procedures in the 1st year of life for children with trisomy 13 and trisomy 18, a 25‐year, single‐center review

S. Braddock, E. Armbrecht, C. Cibulskis, 2016, American journal of medical genetics. Part C, Seminars in medical genetics.

Reported communication ability of persons with trisomy 18 and trisomy 13

J. Carey, S. Braddock, Barbara A. Braddock, 2015, Developmental neurorehabilitation.

Communication Ability in Persons with Trisomy 18 and Trisomy 13

Filip T. Loncke, J. Carey, S. Braddock, 2012, Augmentative and alternative communication.

Postmarketing surveillance for human teratogenicity: a model approach.

R. K. Miller, L. Robinson, C. Chambers, 2001, Teratology.

Combined immunodeficiency in a 3‐year‐old boy with 16p11.2 and 20p12.2‐11.2 chromosomal duplications

J. Batanian, S. Braddock, A. Knutsen, 2014, American journal of medical genetics. Part A.

Braddock–Carey syndrome: A 21q22 contiguous gene syndrome encompassing RUNX1

S. South, J. Carey, J. Schiffman, 2016, American journal of medical genetics. Part A.

De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies

E. Zackai, A. Telegrafi, C. Skraban, 2018, American journal of medical genetics. Part A.

Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.

G. Mortier, E. Jabs, J. Graham, 1998, American journal of medical genetics.

Continuous Venovenous Hemodialysis Via Extracorporeal Membrane Oxygenation Pump for Treatment of Hyperammonemia Secondary to Propionic Acidemia in Monochorionic Diamniotic Twin Boys.

S. Braddock, K. Christensen, L. R. Feldenberg, 2016, The Journal of pediatrics.

Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease

J. Steinberger, M. Shinawi, K. Rudser, 2020, Orphanet Journal of Rare Diseases.

Establishment of Normative Data for Orbital and Nasal Soft-Tissue Measurements Among Filipino Children

D. Jimenez, S. Braddock, C. Barone, 2001, The Journal of craniofacial surgery.

Birth outcomes in women who have taken adalimumab in pregnancy: A prospective cohort study

R. Xu, L. Robinson, C. Chambers, 2019, PloS one.

Pregnancy outcome in women exposed to leflunomide before or during pregnancy.

R. Xu, K. Jones, L. Robinson, 2012, Arthritis and rheumatism.

Tertiary trisomy due to a reciprocal translocation of chromosomes 5 and 21 in a four-generation family.

S. Braddock, H. Nguyen, K. L. Potter, 2000, American journal of medical genetics.

Anaesthetic implications of Nager syndrome

Joel O. Johnson, S. Braddock, Kelly L. Groeper, 2002, Paediatric anaesthesia.

Psychologists' knowledge and attitudes about fetal alcohol syndrome, fetal alcohol spectrum disorders, and alcohol use during pregnancy.

D. Wedding, S. Braddock, M. Mengel, 2007 .

Birth Outcomes in Women Who Have Taken Hydroxycholoroquine During Pregnancy: A Prospective Cohort Study

R. Xu, L. Robinson, C. Chambers, 2021, Arthritis & rheumatology.

Petty syndrome and Fontaine–Farriaux syndrome: Delineation of a single syndrome

B. Paschal, Chun-song Yang, S. Braddock, 2010, American journal of medical genetics. Part A.

Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy

W. Chung, M. Shinawi, M. Yudkoff, 2015, Journal of Medical Genetics.

40th Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2019 Annual Meeting

J. Carey, R. Lipinski, S. Braddock, 2020, American journal of medical genetics. Part A.

The face of Joubert syndrome: A study of dysmorphology and anthropometry

B. Maria, S. Braddock, Kimberly M. Henley, 2007, American journal of medical genetics. Part A.

Bony Orbital Distances Among the Filipino Population

D. Jimenez, S. Braddock, A. Laskey, 2002, The Journal of craniofacial surgery.

Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant

S. Braddock, T. Andreone, T. Gauntner, 2020, Clinical case reports.

Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.

H. Cunliffe, K. Devriendt, M. Masuno, 1997, American journal of human genetics.

Perioperative care of the child with the Johanson–Blizzard syndrome

S. Braddock, G. Johnson, J. Tobias, 2003, Paediatric anaesthesia.

Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience.

B. Burton, G. Hoganson, S. Braddock, 2019, The Journal of pediatrics.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Michael F. Wangler, W. Chung, A. Fatemi, 2019, American journal of human genetics.

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

I. Scheffer, Siddharth Srivastava, B. Bourgeois, 2023, JAMA neurology.

Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus: a unique multiple malformation syndrome.

S. Braddock, M. Jones, D. Superneau, 1993, American journal of medical genetics.

Disruption of neurexin 1 associated with autism spectrum disorder.

M. Daly, F. Volkmar, M. MacDonald, 2008, American journal of human genetics.

Health Care Supervision for Children With Williams Syndrome

C. Morris, S. Braddock, 2020, Pediatrics.

Am J Med Genet Part A 146A:1101–1116 Development and validation of a measure of dysmorphology: Useful for autism subgroup classification

M. Spence, N. Flournoy, J. Miles, 2008 .

Retinal Hemorrhages in an 8-Year-Old Child: An Uncommon Presentation of Abusive Injury

J. Berkenbosch, J. Giangiacomo, S. Braddock, 2004, Pediatric emergency care.