| The Triple Helix: Gene, Organism, and Environment R Lewontin Harvard University Press, 2000 | 2501 | 2000 |
| Alcohol consumption by women before and during pregnancy MK Ethen, TA Ramadhani, AE Scheuerle, MA Canfield, DF Wyszynski, ... Maternal and child health journal 13, 274-285, 2009 | 460 | 2009 |
| The Xolair Pregnancy Registry (EXPECT): the safety of omalizumab use during pregnancy J Namazy, MD Cabana, AE Scheuerle, JM Thorp Jr, H Chen, G Carrigan, ... Journal of Allergy and Clinical Immunology 135 (2), 407-412, 2015 | 261 | 2015 |
| Health supervision for children with neurofibromatosis type 1 DT Miller, D Freedenberg, E Schorry, NJ Ullrich, D Viskochil, BR Korf, ... Pediatrics 143 (5), 2019 | 222 | 2019 |
| High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p. Arg1809: genotype–phenotype … K Rojnueangnit, J Xie, A Gomes, A Sharp, T Callens, Y Chen, Y Liu, ... Human mutation 36 (11), 1052-1063, 2015 | 197 | 2015 |
| Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked … FJ Kaiser, M Ansari, D Braunholz, M Concepción Gil-Rodríguez, ... Human molecular genetics 23 (11), 2888-2900, 2014 | 185 | 2014 |
| Pregnancy outcomes after exposure to certolizumab pegol: updated results from a pharmacovigilance safety database MEB Clowse, AE Scheuerle, C Chambers, A Afzali, AB Kimball, JJ Cush, ... Arthritis & rheumatology 70 (9), 1399-1407, 2018 | 177 | 2018 |
| De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay JX Chong, MJ McMillin, KM Shively, AE Beck, CT Marvin, JR Armenteros, ... The American Journal of Human Genetics 96 (3), 462-473, 2015 | 144 | 2015 |
| Pregnancy outcomes in the omalizumab pregnancy registry and a disease-matched comparator cohort JA Namazy, L Blais, EB Andrews, AE Scheuerle, MD Cabana, JM Thorp, ... Journal of Allergy and Clinical Immunology 145 (2), 528-536. e1, 2020 | 140 | 2020 |
| Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions CP Schaaf, PM Boone, S Sampath, C Williams, PI Bader, JM Mueller, ... European Journal of Human Genetics 20 (12), 1240-1247, 2012 | 135 | 2012 |
| Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4 G Nicholson, GM Lenk, SW Reddel, AE Grant, CF Towne, CJ Ferguson, ... Brain 134 (7), 1959-1971, 2011 | 132 | 2011 |
| Selection against mutant alleles in blood leukocytes is a consistent feature in incontinentia pigmenti type 2 JE Parrish, AE Scheuerle, RA Lewis, ML Levy, DL Nelson Human molecular genetics 5 (11), 1777-1783, 1996 | 129 | 1996 |
| Association between birth defects and cancer risk among children and adolescents in a population-based assessment of 10 million live births PJ Lupo, JM Schraw, TA Desrosiers, WN Nembhard, PH Langlois, ... JAMA oncology 5 (8), 1150-1158, 2019 | 123 | 2019 |
| Epidemiologic features and clinical subgroups of anotia/microtia in Texas MA Canfield, PH Langlois, LM Nguyen, AE Scheuerle Birth Defects Research Part A: Clinical and Molecular Teratology 85 (11 …, 2009 | 121 | 2009 |
| Incontinentia pigmenti AE Scheuerle, MV Ursini | 104 | 2017 |
| Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease MI Conte, A Pescatore, M Paciolla, E Esposito, MG Miano, MB Lioi, ... Human mutation 35 (2), 165-177, 2014 | 104 | 2014 |
| De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea F Xia, MN Bainbridge, TY Tan, MF Wangler, AE Scheuerle, EH Zackai, ... The American Journal of Human Genetics 94 (5), 784-789, 2014 | 95 | 2014 |
| Male cases of incontinentia pigmenti: case report and review AE Scheuerle American journal of medical genetics 77 (3), 201-218, 1998 | 92 | 1998 |
| Population-based birth defects data in the United States, 2008 to 2012: Presentation of state-specific data and descriptive brief on variability of prevalence CT Mai, J Isenburg, PH Langlois, CJ Alverson, SM Gilboa, R Rickard, ... Birth defects research. Part A, Clinical and molecular teratology 103 (11), 972, 2015 | 90 | 2015 |
| Health supervision for people with achondroplasia J Hoover-Fong, CI Scott, MC Jones, E Chen, TL Trotter, SA Berry, ... Pediatrics 145 (6), 2020 | 87 | 2020 |
