Janell Kierstein, MS

Professional Titles

• Certified Genetic Counselor

Publications

• Karayol R, Borroto MC, Haghshenas S, Namasivayam A, Reilly J, Levy MA, Relator R, Kerkhof J, McConkey H, Shvedunova M, Petersen AK, Magnussen K, Zweier C, Vasileiou G, Reis A, Savatt JM, Mulligan MR, Bicknell LS, Poke G, Abu-El-Haija A, Duis J, Hannig V, Srivastava S, Barkoudah E, Hauser NS, van den Born M, Hamiel U, Henig N, Baris Feldman H, McKee S, Krapels IPC, Lei Y, Todorova A, Yordanova R, Atemin S, Rogac M, McConnell V, Chassevent A, Barañano KW, Shashi V, Sullivan JA, Peron A, Iascone M, Canevini MP, Friedman J, Reyes IA, Kierstein J, Shen JJ, Ahmed FN, Mao X, Almoguera B, Blanco-Kelly F, Platzer K, Treu AB, Quilichini J, Bourgois A, Chatron N, Januel L, Rougeot C, Carere DA, Monaghan KG, Rousseau J, Myers KA, Sadikovic B, Akhtar A, Campeau PM. MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature. Am J Hum Genet. 2024 Jul 11;111(7):1330-1351. PubMed PMID: 38815585
• J. Kierstein. X-linked Adrenoleukodystrophy Added to Colorado Newborn Screening Panel. American Academy of Pediatrics, Colorado Chapter newsletter, 2023
• Kierstein J Introduction to Genetics. In: Bernstein LE, Rohr F, van Calcar S editors. Nutrition Management of Inherited Metabolic Diseases. Switzerland: Springer Nature; 2022. p. 3-22.
• Chang C, Gupta AO, Orchard PJ, Nascene DR, Kierstein J, Tryon RK, Lund TC. A Case Series of Adrenoleukodystrophy in Children Conceived through In vitro Fertilization with an Egg Donor. Fertility and Sterility Reports. 2022, in press.
• Chang C, Gupta A, Orchard P, Nascene D, Kierstein J, Tryon R, Lund T. A Case Series of Adrenoleukodystrophy in Children Conceived Through In vitro Fertilization with an Egg Donor. Fertility and Sterility 2022 Dec 23;4(1):24-28. PMID: 36959964
• Kripps K, Kierstein J, Nicklas D, Nelson J, Yang M, Collins A, Troy E, Escolar M, Maloney J, Neuberger I, Stence N, Baker PR 2nd. Unusual Neuroimaging in a Case of Rapidly Progressive Juvenile-Onset Krabbe Disease. J Child Neurol. 2020 Sep;35(10):649-653. PubMed PMID: 32484059
• K. Kripps, J. Kierstein, D. Nicklas, J. Nelson, M. Yang, A. Collins, E. Tolar, J. Maloney, I. Neuberger, N. Stence, P. Baker. Unusual neuroimaging in a case of rapidly progressive late-infantile Krabbe disease. Presented at the Annual Meeting of the Society for Inherited Metabolic Disorders, March 2018, San Diego, California. (Poster) Mol Genet Metab 2018 Mar;123:243.
• K. Kripps, C. Burns, M. Sailer, L. Sremba, J. Kierstein, J. Weisfeld-Adams, P Baker. Chronic Complications in Treated Hereditary Fructose Intolerance. Presented at the Annual Meeting of the Society for Inherited Metabolic Disorders, March 2018, San Diego, California. (Poster) Mol Genet Metab 2018 Mar;123:244.
• Kripps K, Kierstein J, Nicklas D, Nelson J, Yang M, Collins A, Tolar E, Maloney J, Neuberger I, Stence N, Baker P. Unusual neuroimaging in a case of rapidly progressive late-infantile krabbe disease [abstract]. In: Society for Inherited Metabolic Disorders Annual Meeting; 2018 Mar 11-14; San Diego, CA.  
• Thomas JA, Jacobs S, Kierstein J, Van Hove J. Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome. J Inherit Metab Dis. 2006 Dec;29(6):762. PubMed PMID: 17089217

Practice Locations

Children's Hospital Colorado Anschutz Medical Campus
13123 East 16th Ave
Aurora, CO 80045
720-777-1234

Hospital Affiliation

• Children's Hospital Colorado

Specialty Information

Specialties

• Certified Genetic Counselor, Board Certification (2002)

Conditions & Treatments

• Genetic Conditions and Testing