Department of Pediatrics

Education

• BS, Cornell University, 1982
• MS, University of Colorado Health Science Center, 1990

Licensure and Board Certification

• 1990 - 2026American Board of Genetic Counseling

Recent Publications view all (12)

Publication Co-Authors

Dustin Baldridge

Linda Manwaring

Jorge L Granadillo, MD, MSc.

David B. Wilson, M.D., Ph.D.

Patricia Dickson

Francis Sessions Cole, III, M.D.

Washington University has a long tradition of collaboration amongst colleagues.The faculty above have co-authored publications with Rachel Slaugh, MS, CGC

1. Chmielewska JJ, Burkardt D, Granadillo JL, Slaugh R, Morgan S, Rotenberg J, Keren B, Mignot C, Escobar L, Turnpenny P, Zuteck M, Seaver LH, Ploski R, Dziembowska M, Wynshaw-Boris A, Adegbola A.. PTPN4 germline variants result in aberrant neurodevelopment and growth. HGG adv.. 2021;2(3). PMID:34527963  
2. Lance H Rodan 1 2, Rebecca C Spillmann 3, Harley T Kurata 4, Shawn M Lamothe 4, Jasmine Maghera 4, Rami Abou Jamra 5, Anna Alkelai 6, Stylianos E Antonarakis 7, Isis Atallah 8, Omer Bar-Yosef 9 10, Frédéric Bilan 11, Kathrine Bjorgo 12, Xavier Blanc 7, Patrick Van Bogaert 13, Yoav Bolkier 10 14, Lindsay C Burrage 15, Björn U Christ 16, Jorge L Granadillo 17, Patricia Dickson 17, Kirsten A Donald 16, Christèle Dubourg 18 19, Aviva Eliyahu 10 20 21, Lisa Emrick 15, Kendra Engleman 22, Michaela Veronika Gonfiantini 23, Jean-Marc Good 24, Judith Kalser 24, Chiara Kloeckner 5, Guus Lachmeijer 25, Marina Macchiaiolo 23, Francesco Nicita 26, Sylvie Odent 27, Emily O'Heir 1 28, Xilma Ortiz-Gonzalez 29, Marta Pacio-Miguez 30, María Palomares-Bralo 30, Loren Pena 31 32, Konrad Platzer 5, Mathieu Quinodoz 33 34, Emmanuelle Ranza 7, Jill A Rosenfeld 15, Eliane Roulet-Perez 24, Avni Santani 35 36, Fernando Santos-Simarro 30, Ben Pode-Shakked 10 37, Cara Skraban 36 38, Rachel Slaugh 17, Andrea Superti-Furga 24, Isabelle Thiffault 22, Richard H van Jaabrsveld 25, Marie Vincent 39, Hong-Gang Wang 40, Pia Zacher 41, Undiagnosed Diseases Network; Eric Rush 42 43 44, Geoffrey Pitt 40, Ping Yee Billie Au 45, Vandana Shashi. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations Genet Med .. 2021;10:1038. PMID:34163037 
3. Sakshi Singh 1, Aditi Gupta 2 3, Michael Zech 4 5, Ashley N Sigafoos 2 6, Karl J Clark 2 6, Yasemin Dincer 7 8, Matias Wagner 4 5, Jennifer B Humberson 9, Sarah Green 10, Koen van Gassen 1, Tracy Brandt 11, Rhonda E Schnur 11, Francisca Millan 11, Yue Si 11, Volker Mall 7 12, Juliane Winkelmann 4 5 13 14, Ralitza H Gavrilova 2 15 16, Eric W Klee 2 3 15, Kendra Engleman 17, Nicole P Safina 17, Rachel Slaugh 18, Emily M Bryant 19, Wen-Hann Tan 20, Jorge Granadillo 18, Sunita N Misra 19, G Bradley Schaefer 10, Shelley Towner 9, Eva H Brilstra 1, Bobby P C Koeleman . De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy Genet Med. 2020;8:1413-1417. PMID:32366965 
4. Linda P Manwaring 1, Patricia A Jamerson, Rachel Slaugh. Lysosomal storage diseases RN. 2008;71(7):33-7. PMID:18720909 
5. Patrick S Tarpey 1, F Lucy Raymond, Sarah O'Meara, Sarah Edkins, Jon Teague, Adam Butler, Ed Dicks, Claire Stevens, Calli Tofts, Tim Avis, Syd Barthorpe, Gemma Buck, Jennifer Cole, Kristian Gray, Kelly Halliday, Rachel Harrison, Katy Hills, Andrew Jenkinson, David Jones, Andrew Menzies, Tatiana Mironenko, Janet Perry, Keiran Raine, David Richardson, Rebecca Shepherd, Alexandra Small, Jennifer Varian, Sofie West, Sara Widaa, Uma Mallya, Jenny Moon, Ying Luo, Susan Holder, Sarah F Smithson, Jane A Hurst, Jill Clayton-Smith, Bronwyn Kerr, Jackie Boyle, Marie Shaw, Lucianne Vandeleur, Jayson Rodriguez, Rachel Slaugh, Douglas F Easton, Richard Wooster, Martin Bobrow, Anand K Srivastava, Roger E Stevenson, Charles E Schwartz, Gillian Turner, Jozef Gecz, P Andrew Futreal, Michael R Stratton, Michael Partington. Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor Am J Hum Genet . 2007 Feb;80(2):345-52. doi: 10.1086/511134. Epub 2007 Jan 4.. 2007;80(2):345-52. PMID:17236139 
6. Martin RA, Slaugh R, Natowicz M, Pearlman K, Orvisky E, Krasnewich D, Kleta R, Huizing M, Gahl WA. Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs. Am J Med Genet A. 2003;120A(1):23-7. PMID:12794687 
7. Cabezas DA, Slaugh R, Abidi F, Arena JF, Stevenson RE, Schwartz CE, Lubs HA. A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25. J Med Genet. 2000;37(9):663-8. PMCID:PMC1734699  PMID:10978355 
8. Pehlivan T, Pober BR, Brueckner M, Garrett S, Slaugh R, Van Rheeden R, Wilson DB, Watson MS, Hing AV. GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease. Am J Med Genet. 1999;83(3):201-6. PMID:10096597 
9. Hing AV, Helms C, Slaugh R, Burgess A, Wang JC, Herman T, Dowton SB, Donis-Keller H. Linkage of preaxial polydactyly type 2 to 7q36. Am J Med Genet. 1995;58(2):128-35. PMID:8533803 
10. Johnson MC, Strauss AW, Dowton SB, Spray TL, Huddleston CB, Wood MK, Slaugh RA, Watson MS. Deletion within chromosome 22 is common in patients with absent pulmonary valve syndrome. Am J Cardiol. 1995;76(1):66-9. PMID:7793407 
11. Dowton SB, Slaugh RA. Diagnosis of human heritable diseases--laboratory approaches and outcomes. Clin Chem. 1995;41(5):785-94; discussion 813-6. PMID:7729068 
12. Brackett JC, Sims HF, Steiner RD, Nunge M, Zimmerman EM, deMartinville B, Rinaldo P, Slaugh R, Strauss AW. A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death. J Clin Invest. 1994;94(4):1477-83. PMCID:PMC295287  PMID:7929823