A. Scheuerle

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Defect evaluation by infant photographs in a multicenter pharmaceutical clinical trial.

A. Scheuerle, P. Kwon, M. Joing, 2019, Birth defects research.

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Ying Liu, Jing Xie, Eric Legius, 2015, Human mutation.

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

Denise L. Perry, J. Rosenfeld, R. Taft, 2018, American journal of human genetics.

Urban versus rural residence and occurrence of septal heart defects in Texas.

S. Carozza, A. Scheuerle, S. Horel, 2009, Birth defects research. Part A, Clinical and molecular teratology.

Maternal residential proximity to waste sites and industrial facilities and conotruncal heart defects in offspring.

A. Scheuerle, F. Zhan, J. Brender, 2009, Paediatric and perinatal epidemiology.

Residential proximity to waste sites and industrial facilities and chromosomal anomalies in offspring.

Peter H Langlois, F Benjamin Zhan, Lucina Suarez, 2008, International journal of hygiene and environmental health.

Using registry data to suggest which birth defects may be more susceptible to artifactual clusters and trends.

A. Scheuerle, P. Langlois, 2007, Birth defects research. Part A, Clinical and molecular teratology.

Gonadal mosaicism for incontinentia pigmenti in a healthy male.

D. Nelson, A. Scheuerle, R. Lewis, 1995, Journal of medical genetics.

The Xolair Pregnancy Registry (EXPECT): the safety of omalizumab use during pregnancy.

M. Cabana, E. Andrews, J. Thorp, 2015, The Journal of allergy and clinical immunology.

Investigation into an increase in plagiocephaly in Texas from 1999 to 2007.

A. Scheuerle, P. Langlois, Mary K. Ethen, 2011, Archives of pediatrics & adolescent medicine.

Population-based birth defects data in the United States, 2008 to 2012: Presentation of state-specific data and descriptive brief on variability of prevalence.

Russell S Kirby, Peter H Langlois, Mark A Canfield, 2015, Birth defects research. Part A, Clinical and molecular teratology.

Acculturation and selected birth defects among non-Hispanic Blacks in a population-based case-control study.

A. Scheuerle, M. Canfield, Adrienne T Hoyt, 2020, Birth defects research.

Association Between Birth Defects and Cancer Risk Among Children and Adolescents in a Population-Based Assessment of 10 Million Live Births.

Tania A Desrosiers, Austin L. Brown, Amanda E. Janitz, 2019, JAMA oncology.

Maternal occupational exposure to polycyclic aromatic hydrocarbons and craniosynostosis among offspring in the National Birth Defects Prevention Study.

Carissa M Rocheleau, E. Symanski, A. Scheuerle, 2016, Birth defects research. Part A, Clinical and molecular teratology.

Sociodemographic and hispanic acculturation factors and isolated anotia/microtia.

G. Shaw, A. Scheuerle, M. Canfield, 2014, Birth defects research. Part A, Clinical and molecular teratology.

Association of microtia with maternal nutrition.

G. Shaw, A. Scheuerle, M. Canfield, 2012, Birth defects research. Part A, Clinical and molecular teratology.

Do foreign- and U.S.-born mothers across racial/ethnic groups have a similar risk profile for selected sociodemographic and periconceptional factors?

A. Scheuerle, A. Correa, M. Canfield, 2011, Birth defects research. Part A, Clinical and molecular teratology.

Maternal use of hot tub and major structural birth defects.

A. Scheuerle, M. Canfield, Tunu A. Ramadhani, 2011, Birth defects research. Part A, Clinical and molecular teratology.

Association of microtia with maternal obesity and periconceptional folic acid use

G. Shaw, A. Scheuerle, M. Canfield, 2010, American journal of medical genetics. Part A.

Use of Oral Contraceptives in Pregnancy and Major Structural Birth Defects in Offspring

S. Hernández-Díaz, A. Scheuerle, A. Correa, 2010, Epidemiology.

Are birth defects among Hispanics related to maternal nativity or number of years lived in the United States?

A. Scheuerle, A. Correa, M. Canfield, 2009, Birth defects research. Clinical and molecular teratology.

Clinical geneticists in birth defects surveillance and epidemiology research programs: past, present and future roles.

R. Stevenson, S. Rasmussen, A. Lin, 2009, Birth defects research. Part A, Clinical and molecular teratology.

The association between use of spermicides or male condoms and major structural birth defects.

A. Scheuerle, M. Canfield, D. Waller, 2009, Contraception.

Birth defects and military service since 1990.

A. Scheuerle, J. Robbins, D. Wyszynski, 2009, Military medicine.

Clinical review procedures for the Antiretroviral Pregnancy Registry

A. Scheuerle, D. Covington, 2004, Pharmacoepidemiology and drug safety.

Birth defect classification by organ system: a novel approach to heighten teratogenic signalling in a pregnancy registry

H. Tilson, A. Scheuerle, 2002, Pharmacoepidemiology and drug safety.

Assessing the risk of birth defects associated with antiretroviral exposure during pregnancy.

H. Tilson, S. Sacks, A. Scheuerle, 2003, American journal of obstetrics and gynecology.

Expanding the Molecular and Clinical Phenotype of SSR4‐CDG

J. Shendure, D. Nickerson, Martin Kircher, 2015, Human mutation.

Male cases of incontinentia pigmenti: case report and review.

A. Scheuerle, 1998, American journal of medical genetics.

Asymmetric faces: Symbolic, spiritual, and representative

A. Scheuerle, Roswitha Mohs Firth, 2021, American journal of medical genetics. Part C, Seminars in medical genetics.

Birth defect co-occurrence patterns in the Texas Birth Defects Registry

Renata H Benjamin, C. Schaaf, A. Scheuerle, 2021, Pediatric Research.

Patterns of co-occurring birth defects among infants with hypospadias.

Renata H Benjamin, A J Agopian, C. Schaaf, 2020, Journal of pediatric urology.

Incontinentia pigmenti in adults

A. Scheuerle, 2019, American journal of medical genetics. Part A.

The prevalence and predictors of anencephaly and spina bifida in Texas.

A. Scheuerle, M. Canfield, J. Brender, 2009, Paediatric and perinatal epidemiology.

Pharmacovigilance pregnancy data in a large population of patients with chronic inflammatory disease exposed to certolizumab pegol

M. Dubinsky, R. Fischer-Betz, A. Scheuerle, 2021, Therapeutic advances in musculoskeletal disease.

Residential proximity to waste sites and industrial facilities and chromosomal anomalies in offspring.

A. Scheuerle, F. Zhan, J. Brender, 2006, International journal of hygiene and environmental health.

Pre-Zika descriptive epidemiology of microcephaly in Texas, 2008-2012.

A J Agopian, A. Scheuerle, M. Canfield, 2017, Birth defects research.

De novo mutation in three families with multigenerational incontinentia pigmenti.

D. Nelson, A. Scheuerle, R. Lewis, 1994, American journal of human genetics.

Pregnancy Outcomes After Exposure to Certolizumab Pegol

A. Kimball, C. Chambers, A. Scheuerle, 2018, Arthritis & rheumatology.

Length Pregnancy Outcomes after Exposure to Certolizumab Pegol : Updated Results from a Pharmacovigilance Safety Database

A. Kimball, C. Chambers, A. Scheuerle, 2018 .

Pregnancy Outcomes in the Omalizumab Pregnancy Registry and a Disease-matched Comparator Cohort.

M. Cabana, E. Andrews, E. Andrews, 2020, The Journal of allergy and clinical immunology.

Frequency of Prenatal Diagnosis of Birth Defects in Houston, Galveston and the Lower Rio Grande Valley, Texas 1995

A. Scheuerle, M. Canfield, D. Waller, 2000, Fetal Diagnosis and Therapy.

The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

J. Lupski, R. Gibbs, D. Muzny, 2022, Genome Medicine.

Mutations in FAM20C also identified in non‐lethal osteosclerotic bone dysplasia

M. Simpson, M. Patton, H. Stewart, 2009, Clinical genetics.

Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism

J. Towbin, F. Scaglia, A. Scheuerle, 2002, BMC pediatrics.

Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation

A. Berenstein, P. Bayrak-Toydemir, A. Lin, 2018, European Journal of Human Genetics.

A modified panel of sentinel congenital anomalies for potential use in mutation epidemiology based on birth defects registry data

A. Scheuerle, K. Moffitt, P. Langlois, 2014, American journal of medical genetics. Part A.

A case of Asian Indian OCA3 patient

A. Scheuerle, E. Spector, P. Chiang, 2009, American journal of medical genetics. Part A.

Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene

S. Harrison, A. Scheuerle, Angelena Edwards, 2020, BMC Medical Genetics.

Prenatal diagnosis and cesarean section in a large, population-based birth defects registry

A. Scheuerle, P. Langlois, A. Case, 2012, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Arginase deficiency presenting as cerebral palsy.

A. Beaudet, A. Scheuerle, S. K. Shapira, 1993, Pediatrics.

Dysmorphic features in patients with complex glycerol kinase deficiency.

E. McCabe, A. Scheuerle, F. Greenberg, 1995, The Journal of pediatrics.

Assessing the risk of birth defects associated with antiretroviral exposure during pregnancy.

H. Tilson, S. Sacks, A. Scheuerle, 2003, American journal of obstetrics and gynecology.

Variable Co-Diagnosis of Plagiocephaly and Torticollis in Texas Health Care Facilities

A. Scheuerle, Suzanne J Pivar, 2006, The Journal of craniofacial surgery.

Levetiracetam Pregnancy Registry: Final results and a review of the impact of registry methodology and definitions on the prevalence of major congenital malformations

J. Albano, L. Holmes, T. Tomson, 2019, Birth defects research.

Antiepileptic drug exposure and major congenital malformations: The role of pregnancy registries

T. Tomson, C. Harden, J. French, 2007, Epilepsy & Behavior.

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

Michael F. Wangler, E. Zackai, J. Lupski, 2014, American journal of human genetics.

Likelihood of meeting defined VATER/VACTERL phenotype in infants with esophageal atresia with or without tracheoesophageal fistula

A. Scheuerle, Sushma Guptha, Charles J Shumate, 2019, American journal of medical genetics. Part A.

Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries.

Han Chen, Michael D Swartz, Xiao Yu, 2019, Birth defects research.

Descriptive epidemiology of selected heritable birth defects in Texas.

A. Scheuerle, K. Moffitt, P. Langlois, 2011, Birth defects research. Part A, Clinical and molecular teratology.

Final results from the Betaseron (interferon β-1b) Pregnancy Registry: a prospective observational study of birth defects and pregnancy-related adverse events

J. Albano, J. Thorp, A. Scheuerle, 2014, BMJ Open.

An additional case of Hennekam lymphangiectasia–lymphedema syndrome caused by loss‐of‐function mutation in ADAMTS3

C. Timmons, A. Scheuerle, D. Shinde, 2018, American journal of medical genetics. Part A.

Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange

A. C. Chinault, Ankita Patel, J. Lupski, 2008, Journal of Medical Genetics.

Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions

P. Stankiewicz, Ankita Patel, S. Cheung, 2012, European Journal of Human Genetics.

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

J. Shendure, P. Kaplan, C. Haldeman-Englert, 2015, American journal of human genetics.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

I. Krantz, H. Hakonarson, E. Roeder, 2014, Human molecular genetics.

A physician survey regarding diagnostic variability among birth defects

A. Scheuerle, P. Langlois, Shane U. Sheu, 2010, American journal of medical genetics. Part A.

Patterns of co‐occurring birth defects in children with anotia and microtia

C. Schaaf, A. Scheuerle, H. Northrup, 2022, American journal of medical genetics. Part A.

Overcoming presynaptic effects of VAMP2 mutations with 4‐aminopyridine treatment

Shaun A. Hussain, M. Shinawi, B. Paul, 2020, Human mutation.

Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2.

D. Nelson, A. Scheuerle, R. Lewis, 1996, Human molecular genetics.

Complete trisomy 1q with mosaic Y;1 translocation: A recurrent aneuploidy presenting diagnostic dilemmas

A. Scheuerle, F. Elder, K. Heller, 2005, American journal of medical genetics. Part A.

Alcohol Consumption by Women Before and During Pregnancy

Paul A. Romitti, A. Scheuerle, M. Canfield, 2009, Maternal and Child Health Journal.

Occurrence of conotruncal heart birth defects in Texas: a comparison of urban/rural classifications.

S. Carozza, A. Scheuerle, S. Horel, 2010, The Journal of rural health : official journal of the American Rural Health Association and the National Rural Health Care Association.

Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease

A. Smahi, C. Bodemer, A. Munnich, 2014, Human mutation.

Materials and Methods STUDY POPULATION Data on children or pregnancies affected by birth defects came from the Texas Birth Defects Registry

A. Scheuerle, P. Langlois, 2015 .

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.

L. Biesecker, G. Coppola, M. Meisler, 2011, Brain : a journal of neurology.

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

E. Zackai, J. Allanson, F. Quintero-Rivera, 2016, Human mutation.

Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

J. Rosenfeld, I. Krantz, M. Bainbridge, 2019, Genetics in Medicine.

An additional case of Néstor‐Guillermo progeria syndrome diagnosed in early childhood

N. Patni, A. Scheuerle, H. Fisher, 2020, American journal of medical genetics. Part A.

S753 Pharmacovigilance Data on Pregnancy Outcomes in Women With Crohn’s Disease Exposed to Certolizumab Pegol

M. Dubinsky, R. Fischer-Betz, A. Scheuerle, 2021, American Journal of Gastroenterology.

Birth defects among a cohort of infants born to HIV-infected women on antiretroviral medication

L. Mofenson, A. Scheuerle, L. Mandelbrot, 2011, Journal of perinatal medicine.

Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate

C. Schaaf, A. Scheuerle, M. Swartz, 2021, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Birth defects that co‐occur with non‐syndromic gastroschisis and omphalocele

A J Agopian, C. Schaaf, A. Scheuerle, 2020, American journal of medical genetics. Part A.

J. Rosenfeld, I. Krantz, M. Bainbridge, 2019, Genetics in Medicine.

PARK2 copy number aberrations in two children presenting with autism spectrum disorder: Further support of an association and possible evidence for a new microdeletion/microduplication syndrome

A. Scheuerle, K. Wilson, 2011, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Birth Defects, Causal Attributions, and Ethnicity in the National Birth Defects Prevention Study

A. Scheuerle, S. Carmichael, K. Moffitt, 2014, Journal of Genetic Counseling.

Risk factors and time trends for isolated craniosynostosis

A J Agopian, A. Scheuerle, M. Canfield, 2020, Birth defects research.

Mortality in babies with achondroplasia: revisited.

A. Scheuerle, J. Hecht, M. Canfield, 2014, Birth defects research. Part A, Clinical and molecular teratology.

Sociodemographic, health behavioral, and clinical risk factors for anotia/microtia in a population-based case-control study.

Tania A Desrosiers, A. Olshan, G. Shaw, 2019, International journal of pediatric otorhinolaryngology.

Epidemiologic features and clinical subgroups of anotia/microtia in Texas.

Peter H Langlois, Mark A Canfield, Angela E Scheuerle, 2009, Birth defects research. Part A, Clinical and molecular teratology.

Do infants with major congenital anomalies have an excess of macrosomia?

A. Scheuerle, A. Keddie, M. Canfield, 2001, Teratology.

Measurements of birth defect prevalence: which is most useful as a comparator group for pharmaceutical pregnancy registries?

A. Scheuerle, V. Vannappagari, M. K. Miller, 2009, Birth defects research. Part A, Clinical and molecular teratology.

Selected acculturation factors and birth defects in the National Birth Defects Prevention Study, 1997–2011

A. Scheuerle, M. Canfield, Adrienne T Hoyt, 2019, Birth defects research.

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

J. Shendure, P. Kaplan, C. Haldeman-Englert, 2015, bioRxiv.

Sunspot activity and birth defects among Texas births (1999–2016)

Charles S. Layne, A. Scheuerle, N. Ranjit, 2023, Birth defects research.

74. Maternal Dolutegravir (DTG) Use During Pregnancy and Birth Outcomes: The Antiretroviral Pregnancy Registry (APR)

J. Albano, L. Mofenson, A. Scheuerle, 2021, Open Forum Infectious Diseases.

Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation

A. Berenstein, P. Bayrak-Toydemir, A. Lin, 2018, European Journal of Human Genetics.

Identifying syndromes in studies of structural birth defects: Guidance on classification and evaluation of potential impact

A. Scheuerle, L. E. Mitchell, M. Canfield, 2022, American journal of medical genetics. Part A.

Replication banding and molecular studies of a mosaic, unbalanced dic(X;15)(Xpter-->Xq26.1::15p11-->15qter).

D. Ledbetter, L. Shaffer, A. Scheuerle, 1995, American journal of medical genetics.

Zidovudine Exposure during Pregnancy and Hypospadias in Infants : An Analysis of Data from the Antiretroviral Pregnancy Registry , 1989-2014

J. Albano, H. Tilson, A. Scheuerle, 2017 .

Descriptive epidemiology of birth defects thought to arise by new mutation.

A. Scheuerle, P. Langlois, Angela E Scheuerle, 2015, Birth defects research. Part A, Clinical and molecular teratology.

Prenatal exposure to zidovudine and risk for ventricular septal defects and congenital heart defects: data from the Antiretroviral Pregnancy Registry.

J. Albano, H. Tilson, A. Scheuerle, 2016, European journal of obstetrics, gynecology, and reproductive biology.

Temporal trends in diagnoses of congenital microcephaly, Texas Hospital Discharge Diagnoses, 2000–2015

A J Agopian, A. Scheuerle, J. Shewale, 2019, Birth defects research.

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

I. Krantz, E. Roeder, J. Graham, 2023, American journal of medical genetics. Part A.

Limits of the genetic revolution.

A. Scheuerle, Angela E. Scheuerle, 2001, Archives of pediatrics & adolescent medicine.

A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia

A J Agopian, C. Schaaf, A. Scheuerle, 2020, Ophthalmic epidemiology.

A physician survey regarding diagnostic variability among birth defects

A. Scheuerle, P. Langlois, Shane U. Sheu, 2010, American journal of medical genetics. Part A.

Clinical Exome Studies Have Inconsistent Coverage.

Jason Y. Park, A. Scheuerle, J. Kozlitina, 2020, Clinical chemistry.

PARK2 copy number aberrations in two children presenting with autism spectrum disorder: Further support of an association and possible evidence for a new microdeletion/microduplication syndrome

A. Scheuerle, K. Wilson, 2011, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Strengthening the Evidence: Similar Rates of Neural Tube Defects Among Deliveries Regardless of Maternal HIV Status and Dolutegravir Exposure in Hospital Birth Surveillance in Eswatini

L. Mofenson, A. Scheuerle, H. Hoffman, 2023, Open Forum Infectious Diseases.

Prenatal exposure to zidovudine and risk for ventricular septal defects and congenital heart defects: data from the Antiretroviral Pregnancy Registry.

J. Albano, H. Tilson, A. Scheuerle, 2016, European journal of obstetrics, gynecology, and reproductive biology.