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1.

Severe thrombocytopenia and intracranial hemorrhage in a newborn with Noonan syndrome and neonatal alloimmune thrombocytopenia.

Carter, Rebecca; Niemi, Anna-Kaisa.

Platelets ; 33(4): 649-651, 2022 May 19.

Article in English | MEDLINE | ID: mdl-34904514

2.

Analysis of functional variants in mitochondrial DNA of Finnish athletes.

Kiiskilä, Jukka; Moilanen, Jukka S; Kytövuori, Laura; Niemi, Anna-Kaisa; Majamaa, Kari.

BMC Genomics ; 20(1): 784, 2019 Oct 29.

Article in English | MEDLINE | ID: mdl-31664900

3.

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.

Owen, Mallory J; Niemi, Anna-Kaisa; Dimmock, David P; Speziale, Mark; Nespeca, Mark; Chau, Kevin K; Van Der Kraan, Luca; Wright, Meredith S; Hansen, Christian; Veeraraghavan, Narayanan; Ding, Yan; Lenberg, Jerica; Chowdhury, Shimul; Hobbs, Charlotte A; Batalov, Sergey; Zhu, Zhanyang; Nahas, Shareef A; Gilmer, Sheldon; Knight, Gail; Lefebvre, Sebastien; Reynders, John; Defay, Thomas; Weir, Jacqueline; Thomson, Vicki S; Fraser, Louise; Lajoie, Bryan R; McPhail, Tim K; Mehtalia, Shyamal S; Kunard, Chris M; Hall, Kevin P; Kingsmore, Stephen F.

N Engl J Med ; 384(22): 2159-2161, 2021 06 03.

Article in English | MEDLINE | ID: mdl-34077649

4.

Near-Infrared Spectroscopy in the Diagnostic Evaluation of Mitochondrial Disorders: A Neonatal Intensive Care Unit Case Series.

Niemi, Anna-Kaisa; Chock, Valerie Y.

J Pediatr ; 208: 282-286, 2019 May.

Article in English | MEDLINE | ID: mdl-30853194

5.

Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine.

Gomez-Ospina, Natalia; Scott, Anna I; Oh, Gia J; Potter, Donald; Goel, Veena V; Destino, Lauren; Baugh, Nancy; Enns, Gregory M; Niemi, Anna-Kaisa; Cowan, Tina M.

J Inherit Metab Dis ; 39(6): 821-829, 2016 11.

Article in English | MEDLINE | ID: mdl-27488560

6.

Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia.

Splinter, Kimberly; Niemi, Anna-Kaisa; Cox, Rachel; Platt, Julia; Shah, Monisha; Enns, Gregory M; Kasahara, Mureo; Bernstein, Jonathan A.

J Genet Couns ; 25(5): 936-44, 2016 10.

Article in English | MEDLINE | ID: mdl-26667650

7.

Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation.

Niemi, Anna-Kaisa; Kim, Irene K; Krueger, Casey E; Cowan, Tina M; Baugh, Nancy; Farrell, Rachel; Bonham, Clark A; Concepcion, Waldo; Esquivel, Carlos O; Enns, Gregory M.

J Pediatr ; 166(6): 1455-61.e1, 2015 Jun.

Article in English | MEDLINE | ID: mdl-25771389

8.

Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.

Myers, Angela; Bernstein, Jonathan A; Brennan, Marie-Luise; Curry, Cynthia; Esplin, Edward D; Fisher, Jamie; Homeyer, Margaret; Manning, Melanie A; Muller, Eric A; Niemi, Anna-Kaisa; Seaver, Laurie H; Hintz, Susan R; Hudgins, Louanne.

Am J Med Genet A ; 164A(11): 2814-21, 2014 Nov.

Article in English | MEDLINE | ID: mdl-25250515

9.

Abnormal hepatocellular mitochondria in methylmalonic acidemia.

Wilnai, Yael; Enns, Gregory M; Niemi, Anna-Kaisa; Higgins, John; Vogel, Hannes.

Ultrastruct Pathol ; 38(5): 309-14, 2014 Oct.

Article in English | MEDLINE | ID: mdl-24933007

10.

Liver transplantation for urea cycle disorders in pediatric patients: a single-center experience.

Kim, Irene K; Niemi, Anna-Kaisa; Krueger, Casey; Bonham, Clark A; Concepcion, Waldo; Cowan, Tina M; Enns, Gregory M; Esquivel, Carlos O.

Pediatr Transplant ; 17(2): 158-67, 2013 Mar.

Article in English | MEDLINE | ID: mdl-23347504

11.

Report of two patients and further characterization of interstitial 9p13 deletion--a rare but recurrent microdeletion syndrome?

Niemi, Anna-Kaisa; Kwan, Andrea; Hudgins, Louanne; Cherry, Athena M; Manning, Melanie A.

Am J Med Genet A ; 158A(9): 2328-35, 2012 Sep.

Article in English | MEDLINE | ID: mdl-22887577

12.

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.

Owen, Mallory J; Lefebvre, Sebastien; Hansen, Christian; Kunard, Chris M; Dimmock, David P; Smith, Laurie D; Scharer, Gunter; Mardach, Rebecca; Willis, Mary J; Feigenbaum, Annette; Niemi, Anna-Kaisa; Ding, Yan; Van Der Kraan, Luca; Ellsworth, Katarzyna; Guidugli, Lucia; Lajoie, Bryan R; McPhail, Timothy K; Mehtalia, Shyamal S; Chau, Kevin K; Kwon, Yong H; Zhu, Zhanyang; Batalov, Sergey; Chowdhury, Shimul; Rego, Seema; Perry, James; Speziale, Mark; Nespeca, Mark; Wright, Meredith S; Reese, Martin G; De La Vega, Francisco M; Azure, Joe; Frise, Erwin; Rigby, Charlene Son; White, Sandy; Hobbs, Charlotte A; Gilmer, Sheldon; Knight, Gail; Oriol, Albert; Lenberg, Jerica; Nahas, Shareef A; Perofsky, Kate; Kim, Kyu; Carroll, Jeanne; Coufal, Nicole G; Sanford, Erica; Wigby, Kristen; Weir, Jacqueline; Thomson, Vicki S; Fraser, Louise; Lazare, Seka S.

Nat Commun ; 13(1): 4057, 2022 07 26.

Article in English | MEDLINE | ID: mdl-35882841

13.

Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex.

Niemi, Anna-Kaisa; Northrup, Hope; Hudgins, Louanne; Bernstein, Jonathan A.

Am J Med Genet A ; 155A(10): 2534-7, 2011 Oct.

Article in English | MEDLINE | ID: mdl-21910228

14.

Ectopia lentis as the presenting and primary feature in Marfan syndrome.

Zadeh, Neda; Bernstein, Jonathan A; Niemi, Anna Kaisa; Dugan, Sarah; Kwan, Andrea; Liang, David; Hyland, James C; Hoyme, H Eugene; Hudgins, Louanne; Manning, Melanie A.

Am J Med Genet A ; 155A(11): 2661-8, 2011 Nov.

Article in English | MEDLINE | ID: mdl-21932315

15.

Reply: To PMID 25771389.

Niemi, Anna-Kaisa; Enns, Gregory M.

J Pediatr ; 167(5): 1173-4, 2015 Nov.

Article in English | MEDLINE | ID: mdl-26362093

16.

Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population.

Kaivola, Karri; Salmi, Samuli J; Jansson, Lilja; Launes, Jyrki; Hokkanen, Laura; Niemi, Anna-Kaisa; Majamaa, Kari; Lahti, Jari; Eriksson, Johan G; Strandberg, Timo; Laaksovirta, Hannu; Tienari, Pentti J.

Acta Neuropathol Commun ; 8(1): 187, 2020 11 09.

Article in English | MEDLINE | ID: mdl-33168078

17.

Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system.

Kingsmore, Stephen F; Ramchandar, Nanda; James, Kiely; Niemi, Anna-Kaisa; Feigenbaum, Annette; Ding, Yan; Benson, Wendy; Hobbs, Charlotte; Nahas, Shareef; Chowdhury, Shimul; Dimmock, David.

Cold Spring Harb Mol Case Stud ; 6(1)2020 02.

Article in English | MEDLINE | ID: mdl-32014857

18.

Cinacalcet therapy in an infant with an R185Q calcium-sensing receptor mutation causing hyperparathyroidism: a case report and review of the literature.

Forman, Thomas E; Niemi, Anna-Kaisa; Prahalad, Priya; Shi, Run Zhang; Nally, Laura M.

J Pediatr Endocrinol Metab ; 32(3): 305-310, 2019 Mar 26.

Article in English | MEDLINE | ID: mdl-30730839

19.

Review of Randomized Controlled Trials of Massage in Preterm Infants.

Niemi, Anna-Kaisa.

Children (Basel) ; 4(4)2017 Apr 03.

Article in English | MEDLINE | ID: mdl-28368368

20.

Pediatric Integrative Medicine.

McClafferty, Hilary; Vohra, Sunita; Bailey, Michelle; Brown, Melanie; Esparham, Anna; Gerstbacher, Dana; Golianu, Brenda; Niemi, Anna-Kaisa; Sibinga, Erica; Weydert, Joy; Yeh, Ann Ming.

Pediatrics ; 140(3)2017 Sep.

Article in English | MEDLINE | ID: mdl-28847978

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