Search | VHL CLAP/WR-PAHO/WHO

1.

Prevalence and descriptive epidemiology of choanal atresia and stenosis in Texas, 1999-2018.

Benjamin, Renata H; Marengo, Lisa K; Scheuerle, Angela E; Agopian, A J; Mitchell, Laura E.

Am J Med Genet A ; 194(6): e63549, 2024 Jun.

Article in English | MEDLINE | ID: mdl-38314656

2.

Classification of isolated versus multiple birth defects: An automated process for population-based registries.

Benjamin, Renata H; Nguyen, Joanne M; Drummond-Borg, Margaret; Scheuerle, Angela E; Langlois, Peter H; Canfield, Mark A; Shumate, Charles J; Mitchell, Laura E; Agopian, A J.

Am J Med Genet A ; : e63714, 2024 May 21.

Article in English | MEDLINE | ID: mdl-38770996

3.

The Antiretroviral Pregnancy Registry: Three decades of prospective monitoring for birth defects.

Albano, Jessica D; Scheuerle, Angela E; Watts, D Heather; Beckerman, Karen P; Mofenson, Lynne M; Pikis, Andreas; Vannappagari, Vani; Seekins, Daniel; Cook, Taylor S; Tilson, Hugh.

Pharmacoepidemiol Drug Saf ; 33(6): e5801, 2024 Jun.

Article in English | MEDLINE | ID: mdl-38798093

4.

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

Benjamin, Renata H; Mitchell, Laura E; Scheuerle, Angela E; Langlois, Peter H; Canfield, Mark A; Drummond-Borg, Margaret; Nguyen, Joanne M; Agopian, A J.

Am J Med Genet A ; 191(1): 190-204, 2023 01.

Article in English | MEDLINE | ID: mdl-36286533

5.

Biallelic variants in NUDCD2 associated with a multiple malformation syndrome with cholestasis and renal failure.

Scheuerle, Angela E; Ni, Min; Ahmad, Aaliya A; Timmons, Charles F; Rakheja, Dinesh; Gordon, Erin E; Boothe, Megan.

Am J Med Genet A ; 191(9): 2324-2328, 2023 09.

Article in English | MEDLINE | ID: mdl-37272762

6.

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

Schraw, Jeremy M; Benjamin, Renata H; Shumate, Charles J; Canfield, Mark A; Scott, Daryl A; McLean, Scott D; Northrup, Hope; Scheuerle, Angela E; Schaaf, Christian P; Ray, Joseph W; Chen, Han; Agopian, A J; Lupo, Philip J.

Am J Med Genet A ; 191(3): 805-812, 2023 03.

Article in English | MEDLINE | ID: mdl-36541232

7.

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

Benjamin, Renata H; Scheuerle, Angela E; Scott, Daryl A; Navarro Sanchez, Maria Luisa; Langlois, Peter H; Canfield, Mark A; Northrup, Hope; Schaaf, Christian P; Ray, Joseph W; McLean, Scott D; Chen, Han; Swartz, Michael D; Lupo, Philip J; Agopian, A J.

Pediatr Res ; 91(5): 1278-1285, 2022 04.

Article in English | MEDLINE | ID: mdl-34193968

8.

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

Sanchez, Maria Luisa Navarro; Benjamin, Renata H; Mitchell, Laura E; Langlois, Peter H; Canfield, Mark A; Swartz, Michael D; Scheuerle, Angela E; Scott, Daryl A; Northrup, Hope; Schaaf, Christian P; Ray, Joseph W; McLean, Scott D; Chen, Han; Lupo, Philip J; Agopian, A J.

Cleft Palate Craniofac J ; 59(4): 417-426, 2022 Apr.

Article in English | MEDLINE | ID: mdl-33906455

9.

Asymmetric faces: Symbolic, spiritual, and representative.

Scheuerle, Angela E; Firth, Roswitha Mohs.

Am J Med Genet C Semin Med Genet ; 187(2): 278-282, 2021 06.

Article in English | MEDLINE | ID: mdl-33982860

10.

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

Nguyen, Thi Tuyet Mai; Murakami, Yoshiko; Wigby, Kristen M; Baratang, Nissan V; Rousseau, Justine; St-Denis, Anik; Rosenfeld, Jill A; Laniewski, Stephanie C; Jones, Julie; Iglesias, Alejandro D; Jones, Marilyn C; Masser-Frye, Diane; Scheuerle, Angela E; Perry, Denise L; Taft, Ryan J; Le Deist, Françoise; Thompson, Miles; Kinoshita, Taroh; Campeau, Philippe M.

Am J Hum Genet ; 103(4): 602-611, 2018 10 04.

Article in English | MEDLINE | ID: mdl-30269814

11.

Patterns of congenital anomalies among individuals with trisomy 13 in Texas.

Diaz, Diego; Benjamin, Renata H; Navarro Sanchez, Maria Luisa; Mitchell, Laura E; Langlois, Peter H; Canfield, Mark A; Chen, Han; Scheuerle, Angela E; Schaaf, Christian P; Scott, Daryl A; Northrup, Hope; Ray, Joseph W; McLean, Scott D; Swartz, Michael D; Ludorf, Katherine L; Lupo, Philip J; Agopian, A J.

Am J Med Genet A ; 185(6): 1787-1793, 2021 06.

Article in English | MEDLINE | ID: mdl-33749998

12.

Pregnancy outcomes in the omalizumab pregnancy registry and a disease-matched comparator cohort.

Namazy, Jennifer A; Blais, Lucie; Andrews, Elizabeth B; Scheuerle, Angela E; Cabana, Michael D; Thorp, John M; Umetsu, Dale T; Veith, Joachim H; Sun, Diana; Kaufman, Derrick G; Covington, Deborah L; Mukhopadhyay, Santanu; Fogel, Robert B; Lopez-Leon, Sandra; Spain, C Victor.

J Allergy Clin Immunol ; 145(2): 528-536.e1, 2020 02.

Article in English | MEDLINE | ID: mdl-31145939

13.

Overcoming presynaptic effects of VAMP2 mutations with 4-aminopyridine treatment.

Simmons, Roxanne L; Li, Haiyan; Alten, Baris; Santos, Magda S; Jiang, Ruiji; Paul, Brianna; Lalani, Sanam J; Cortesi, Audrey; Parks, Kendall; Khandelwal, Nitin; Smith-Packard, Bethany; Phoong, Malay A; Chez, Michael; Fisher, Heather; Scheuerle, Angela E; Shinawi, Marwan; Hussain, Shaun A; Kavalali, Ege T; Sherr, Elliott H; Voglmaier, Susan M.

Hum Mutat ; 41(11): 1999-2011, 2020 11.

Article in English | MEDLINE | ID: mdl-32906212

14.

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

Blackburn, Alexandria T M; Bekheirnia, Nasim; Uma, Vanessa C; Corkins, Mark E; Xu, Yuxiao; Rosenfeld, Jill A; Bainbridge, Matthew N; Yang, Yaping; Liu, Pengfei; Madan-Khetarpal, Suneeta; Delgado, Mauricio R; Hudgins, Louanne; Krantz, Ian; Rodriguez-Buritica, David; Wheeler, Patricia G; Al-Gazali, Lihadh; Shamsi, Aisha Mohamed Saeed Mohamed Al; Gomez-Ospina, Natalia; Chao, Hsiao-Tuan; Mirzaa, Ghayda M; Scheuerle, Angela E; Kukolich, Mary K; Scaglia, Fernando; Eng, Christine; Willsey, Helen Rankin; Braun, Michael C; Lamb, Dolores J; Miller, Rachel K; Bekheirnia, Mir Reza.

Genet Med ; 22(4): 821, 2020 Apr.

Article in English | MEDLINE | ID: mdl-31857706

15.

Clinical Exome Studies Have Inconsistent Coverage.

Gotway, Garrett; Crossley, Eric; Kozlitina, Julia; Xing, Chao; Fan, Judy; Hornbuckle, Callie; Thies, Jenny; Michel, Donnice; Quinn, Christine; Scheuerle, Angela E; Umana, Luis A; Uhles, Crescenda L; Park, Jason Y.

Clin Chem ; 66(1): 199-206, 2020 01 01.

Article in English | MEDLINE | ID: mdl-32609854

16.

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

Iqbal, Nida S; Jascur, Thomas A; Harrison, Steven M; Edwards, Angelena B; Smith, Luke T; Choi, Erin S; Arevalo, Michelle K; Chen, Catherine; Zhang, Shaohua; Kern, Adam J; Scheuerle, Angela E; Sanchez, Emma J; Xing, Chao; Baker, Linda A.

BMC Med Genet ; 21(1): 38, 2020 02 21.

Article in English | MEDLINE | ID: mdl-32085749

17.

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

Fisher, Heather G; Patni, Nivedita; Scheuerle, Angela E.

Am J Med Genet A ; 182(10): 2399-2402, 2020 10.

Article in English | MEDLINE | ID: mdl-32783369

18.

Birth defects that co-occur with non-syndromic gastroschisis and omphalocele.

Oluwafemi, Omobola O; Benjamin, Renata H; Navarro Sanchez, Maria Luisa; Scheuerle, Angela E; Schaaf, Christian P; Mitchell, Laura E; Langlois, Peter H; Canfield, Mark A; Swartz, Michael D; Scott, Daryl A; Northrup, Hope; Ray, Joseph W; McLean, Scott D; Ludorf, Katherine L; Chen, Han; Lupo, Philip J; Agopian, A J.

Am J Med Genet A ; 182(11): 2581-2593, 2020 11.

Article in English | MEDLINE | ID: mdl-32885608

19.

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

Blackburn, Alexandria T M; Bekheirnia, Nasim; Uma, Vanessa C; Corkins, Mark E; Xu, Yuxiao; Rosenfeld, Jill A; Bainbridge, Matthew N; Yang, Yaping; Liu, Pengfei; Madan-Khetarpal, Suneeta; Delgado, Mauricio R; Hudgins, Louanne; Krantz, Ian; Rodriguez-Buritica, David; Wheeler, Patricia G; Al-Gazali, Lihadh; Mohamed Saeed Mohamed Al Shamsi, Aisha; Gomez-Ospina, Natalia; Chao, Hsiao-Tuan; Mirzaa, Ghayda M; Scheuerle, Angela E; Kukolich, Mary K; Scaglia, Fernando; Eng, Christine; Willsey, Helen Rankin; Braun, Michael C; Lamb, Dolores J; Miller, Rachel K; Bekheirnia, Mir Reza.

Genet Med ; 21(12): 2755-2764, 2019 12.

Article in English | MEDLINE | ID: mdl-31263215

20.

Incontinentia pigmenti in adults.

Scheuerle, Angela E.

Am J Med Genet A ; 179(8): 1415-1419, 2019 08.

Article in English | MEDLINE | ID: mdl-31119873

VHL CLAP/WR-PAHO/WHO

Latin-American Center for Perinatology, Woman and Reproductive Health

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