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Behavioral phenotype of 49,XXXXY syndrome: Presence of anxiety-related symptoms and intact social awareness.

Lasutschinkow PC, Gropman AL, Porter GF, Sadeghin T, Samango-Sprouse CA.

Am J Med Genet A. 2020 Feb 21. doi: 10.1002/ajmg.a.61507. [Epub ahead of print]


A review of the intriguing interaction between testosterone and neurocognitive development in males with 47,XXY.

Samango-Sprouse CA, Yu C, Porter GF, Tipton ES, Lasutschinkow PC, Gropman AL.

Curr Opin Obstet Gynecol. 2020 Jan 30. doi: 10.1097/GCO.0000000000000612. [Epub ahead of print]


Evaluation of neurocognitive function of prefrontal cortex in ornithine transcarbamylase deficiency.

Anderson A, Gropman A, Le Mons C, Stratakis C, Gandjbakhche A.

Mol Genet Metab. 2020 Jan 10. pii: S1096-7192(19)30731-0. doi: 10.1016/j.ymgme.2019.12.014. [Epub ahead of print]


From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.

Zielonka M, Garbade SF, Gleich F, Okun JG, Nagamani SCS, Gropman AL, Hoffmann GF, Kölker S, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group.

Hum Mutat. 2020 Jan 15. doi: 10.1002/humu.23983. [Epub ahead of print]


CNS manifestations in patients with telomere biology disorders.

Bhala S, Best AF, Giri N, Alter BP, Pao M, Gropman A, Baker EH, Savage SA.

Neurol Genet. 2019 Oct 29;5(6):370. doi: 10.1212/NXG.0000000000000370. eCollection 2019 Dec.


Update On The Clinical Perspectives And Care Of The Child With 47,XXY (Klinefelter Syndrome).

Samango-Sprouse CA, Counts DR, Tran SL, Lasutschinkow PC, Porter GF, Gropman AL.

Appl Clin Genet. 2019 Oct 23;12:191-202. doi: 10.2147/TACG.S180450. eCollection 2019. Review.


Impact of early diagnosis and noninvasive prenatal testing (NIPT): Knowledge, attitudes, and experiences of parents of children with sex chromosome aneuploidies (SCAs).

Samango-Sprouse CA, Porter GF, Lasutschinkow PC, Tran SL, Sadeghin T, Gropman AL.

Prenat Diagn. 2019 Oct 29. doi: 10.1002/pd.5580. [Epub ahead of print]


Hormonal replacement therapy and its potential influence on working memory and competency/adaptive functioning in 47,XXY (Klinefelter syndrome).

Tran SL, Samango-Sprouse CA, Sadeghin T, Powell S, Gropman AL.

Am J Med Genet A. 2019 Dec;179(12):2374-2381. doi: 10.1002/ajmg.a.61360. Epub 2019 Oct 2.


Hepatic arginase deficiency fosters dysmyelination during postnatal CNS development.

Liu XB, Haney JR, Cantero G, Lambert JR, Otero-Garcia M, Truong B, Gropman A, Cobos I, Cederbaum SD, Lipshutz GS.

JCI Insight. 2019 Sep 5;4(17). pii: 130260. doi: 10.1172/jci.insight.130260.


Smith-Magenis Syndrome.

Smith ACM, Boyd KE, Brennan C, Charles J, Elsea SH, Finucane BM, Foster R, Gropman A, Girirajan S, Haas-Givler B.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2001 Oct 22 [updated 2019 Sep 5].


Early prediction of phenotypic severity in Citrullinemia Type 1.

Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group.

Ann Clin Transl Neurol. 2019 Sep;6(9):1858-1871. doi: 10.1002/acn3.50886. Epub 2019 Aug 30.


Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.

Posset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, McCandless SE, Garcia-Cazorla A, Seminara J, Garbade SF, Kölker S; Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases Consortia Study Group.

Ann Neurol. 2019 Jul;86(1):116-128. doi: 10.1002/ana.25492. Epub 2019 May 13.


The importance of the nuclear background on the phenotypic signature caused by the MELAS m.1630 A>G variant.

Gropman A, Chiaramello A.

Mol Genet Metab Rep. 2019 Feb 16;19:100462. doi: 10.1016/j.ymgmr.2019.100462. eCollection 2019 Jun. No abstract available.


The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic mother.

Uittenbogaard M, Wang H, Zhang VW, Wong LJ, Brantner CA, Gropman A, Chiaramello A.

Mol Genet Metab. 2019 Apr;126(4):429-438. doi: 10.1016/j.ymgme.2019.01.022. Epub 2019 Jan 25.


The incidence of anxiety symptoms in boys with 47,XXY (Klinefelter syndrome) and the possible impact of timing of diagnosis and hormonal replacement therapy.

Samango-Sprouse C, Lasutschinkow P, Powell S, Sadeghin T, Gropman A.

Am J Med Genet A. 2019 Mar;179(3):423-428. doi: 10.1002/ajmg.a.61038. Epub 2019 Jan 13.


Novel metabolic signatures of compound heterozygous Szt2 variants in a case of early-onset of epileptic encephalopathy.

Uittenbogaard M, Gropman A, Brantner CA, Chiaramello A.

Clin Case Rep. 2018 Oct 25;6(12):2376-2384. doi: 10.1002/ccr3.1868. eCollection 2018 Dec.


The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism.

Wiwattanadittakul N, Prust M, Gaillard WD, Massaro A, Vezina G, Tsuchida TN, Gropman AL.

Mol Genet Metab. 2018 Nov;125(3):235-240. doi: 10.1016/j.ymgme.2018.08.011. Epub 2018 Aug 24.


Phenotypic spectrum of maternally inherited Leigh Syndrome associated with the m.8993T>G variant.

Gropman A, Chiaramello A.

Mol Genet Metab Rep. 2018 May 7;15:134. doi: 10.1016/j.ymgmr.2018.04.004. eCollection 2018 Jun. No abstract available.


"Cerebral Palsy" in a Patient With Arginase Deficiency.

Jichlinski A, Clarke L, Whitehead MT, Gropman A.

Semin Pediatr Neurol. 2018 Jul;26:110-114. doi: 10.1016/j.spen.2017.03.016. Epub 2017 Apr 1.


A Newborn With Hyperlactatemia and Epileptic Encephalopathy.

Obeid R, Sogawa Y, Naik M, Goldstein A, Gropman A, Asato M.

Semin Pediatr Neurol. 2018 Jul;26:104-107. doi: 10.1016/j.spen.2017.05.004. Epub 2017 May 23.


The m.11778 A > G variant associated with the coexistence of Leber's hereditary optic neuropathy and multiple sclerosis-like illness dysregulates the metabolic interplay between mitochondrial oxidative phosphorylation and glycolysis.

Uittenbogaard M, Brantner CA, Fang Z, Wong LJ, Gropman A, Chiaramello A.

Mitochondrion. 2019 May;46:187-194. doi: 10.1016/j.mito.2018.06.001. Epub 2018 Jun 8.


Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.

Rodan LH, Hauptman M, D'Gama AM, Qualls AE, Cao S, Tuschl K, Al-Jasmi F, Hertecant J, Hayflick SJ, Wessling-Resnick M, Yang ET, Berry GT, Gropman A, Woolf AD, Agrawal PB.

Mol Genet Metab. 2018 Jun;124(2):161-167. doi: 10.1016/j.ymgme.2018.04.002. Epub 2018 Apr 6.


Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome.

Uittenbogaard M, Brantner CA, Fang Z, Wong LC, Gropman A, Chiaramello A.

Mol Genet Metab. 2018 May;124(1):71-81. doi: 10.1016/j.ymgme.2018.03.011. Epub 2018 Mar 27.


Prospective longitudinal overnight video-EEG evaluation in Phelan-McDermid Syndrome.

Khan OI, Zhou X, Leon J, Kessler R, Gaughan T, D'Souza P, Gropman A, Cohen N, Rennert O, Buckley A, Inati S, Thurm A.

Epilepsy Behav. 2018 Mar;80:312-320. doi: 10.1016/j.yebeh.2017.11.034. Epub 2018 Feb 3.


Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1.

Lau MW, Lee RW, Miyamoto R, Jung ES, Yanjanin Farhat N, Yoshida S, Mori S, Gropman A, Baker EH, Porter FD.

Diseases. 2016 Sep 8;4(3). pii: E29. doi: 10.3390/diseases4030029.


Black Toenail Sign in MELAS Syndrome.

Whitehead MT, Wien M, Lee B, Bass N, Gropman A.

Pediatr Neurol. 2017 Oct;75:61-65. doi: 10.1016/j.pediatrneurol.2017.06.017. Epub 2017 Jul 12.


Response regarding involvement of the cerebral veins in MELAS syndrome.

Whitehead MT, Wien M, Lee B, Bass N, Gropman A.

Neuroradiology. 2017 Oct;59(10):947-949. doi: 10.1007/s00234-017-1902-3. Epub 2017 Aug 11. No abstract available.


Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.

Zepeda-Mendoza CJ, Ibn-Salem J, Kammin T, Harris DJ, Rita D, Gripp KW, MacKenzie JJ, Gropman A, Graham B, Shaheen R, Alkuraya FS, Brasington CK, Spence EJ, Masser-Frye D, Bird LM, Spiegel E, Sparkes RL, Ordulu Z, Talkowski ME, Andrade-Navarro MA, Robinson PN, Morton CC.

Am J Hum Genet. 2017 Aug 3;101(2):206-217. doi: 10.1016/j.ajhg.2017.06.011. Epub 2017 Jul 20.


Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.

Oprescu SN, Chepa-Lotrea X, Takase R, Golas G, Markello TC, Adams DR, Toro C, Gropman AL, Hou YM, Malicdan MCV, Gahl WA, Tifft CJ, Antonellis A.

Hum Mutat. 2017 Oct;38(10):1412-1420. doi: 10.1002/humu.23287. Epub 2017 Jul 14.


Cortical venous disease severity in MELAS syndrome correlates with brain lesion development.

Whitehead MT, Wien M, Lee B, Bass N, Gropman A.

Neuroradiology. 2017 Aug;59(8):813-818. doi: 10.1007/s00234-017-1866-3. Epub 2017 Jun 30.


Urea Cycle Disorders Overview.

Ah Mew N, Simpson KL, Gropman AL, Lanpher BC, Chapman KA, Summar ML.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2003 Apr 29 [updated 2017 Jun 22].


The benefits and limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome).

Samango-Sprouse C, Keen C, Sadeghin T, Gropman A.

Prenat Diagn. 2017 May;37(5):497-501. doi: 10.1002/pd.5044. Epub 2017 Apr 17. Review.


Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

Berger SI, Ciccone C, Simon KL, Malicdan MC, Vilboux T, Billington C, Fischer R, Introne WJ, Gropman A, Blancato JK, Mullikin JC; NISC Comparative Sequencing Program, Gahl WA, Huizing M, Smith ACM.

Hum Genet. 2017 Apr;136(4):409-420. doi: 10.1007/s00439-017-1767-x. Epub 2017 Feb 17.


The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME.

Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14.


Reply regarding lesional perfusion abnormalities on arterial spin labeling in Leigh disease.

Whitehead MT, Lee B, Gropman A.

Pediatr Radiol. 2017 Jan;47(1):126-127. doi: 10.1007/s00247-016-3738-0. Epub 2016 Nov 8. No abstract available.


MR Imaging Findings in Xp21.2 Duplication Syndrome.

Whitehead MT, Helman G, Gropman AL.

J Radiol Case Rep. 2016 May 31;10(5):9-14. eCollection 2016 May.


A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.

Wassif CA, Kratz L, Sparks SE, Wheeler C, Bianconi S, Gropman A, Calis KA, Kelley RI, Tierney E, Porter FD.

Genet Med. 2017 Mar;19(3):297-305. doi: 10.1038/gim.2016.102. Epub 2016 Aug 11.


Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population.

Samango-Sprouse C, Kırkızlar E, Hall MP, Lawson P, Demko Z, Zneimer SM, Curnow KJ, Gross S, Gropman A.

PLoS One. 2016 Aug 11;11(8):e0161045. doi: 10.1371/journal.pone.0161045. eCollection 2016.


Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.

Lam C, Ferreira C, Krasnewich D, Toro C, Latham L, Zein WM, Lehky T, Brewer C, Baker EH, Thurm A, Farmer CA, Rosenzweig SD, Lyons JJ, Schreiber JM, Gropman A, Lingala S, Ghany MG, Solomon B, Macnamara E, Davids M, Stratakis CA, Kimonis V, Gahl WA, Wolfe L.

Genet Med. 2017 Feb;19(2):160-168. doi: 10.1038/gim.2016.75. Epub 2016 Jul 7.


Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.

Waisbren SE, Gropman AL; Members of the Urea Cycle Disorders Consortium (UCDC), Batshaw ML.

J Inherit Metab Dis. 2016 Jul;39(4):573-84. doi: 10.1007/s10545-016-9942-0. Epub 2016 May 23.


Lesional perfusion abnormalities in Leigh disease demonstrated by arterial spin labeling correlate with disease activity.

Whitehead MT, Lee B, Gropman A.

Pediatr Radiol. 2016 Aug;46(9):1309-16. doi: 10.1007/s00247-016-3616-9. Epub 2016 Apr 4.


Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech.

Samango-Sprouse C, Lawson P, Sprouse C, Stapleton E, Sadeghin T, Gropman A.

Am J Med Genet A. 2016 May;170A(5):1312-6. doi: 10.1002/ajmg.a.37575. Epub 2016 Feb 1.


Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

Kane MS, Davids M, Adams C, Wolfe LA, Cheung HW, Gropman A, Huang Y; NISC Comparative Sequencing Program, Ng BG, Freeze HH, Adams DR, Gahl WA, Boerkoel CF.

Am J Hum Genet. 2016 Feb 4;98(2):339-46. doi: 10.1016/j.ajhg.2015.12.007. Epub 2016 Jan 21.


Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXX.

Samango-Sprouse C, Keen C, Mitchell F, Sadeghin T, Gropman A.

Am J Med Genet A. 2015 Oct;167A(10):2251-9. doi: 10.1002/ajmg.a.37198. Epub 2015 Jun 18.


Reduced Functional Connectivity of Default Mode and Set-Maintenance Networks in Ornithine Transcarbamylase Deficiency.

Pacheco-Colón I, Washington SD, Sprouse C, Helman G, Gropman AL, VanMeter JW.

PLoS One. 2015 Jun 11;10(6):e0129595. doi: 10.1371/journal.pone.0129595. eCollection 2015.


Structural brain defects.

Whitehead MT, Fricke ST, Gropman AL.

Clin Perinatol. 2015 Jun;42(2):337-61, ix. doi: 10.1016/j.clp.2015.02.007. Epub 2015 Apr 4. Review.


Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).

Ktena YP, Paul SM, Hauser NS, Sloan JL, Gropman A, Manoli I, Venditti CP.

Am J Med Genet A. 2015 Sep;167A(9):2075-84. doi: 10.1002/ajmg.a.37127. Epub 2015 May 10.


Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.

Lam C, Golas GA, Davids M, Huizing M, Kane MS, Krasnewich DM, Malicdan MCV, Adams DR, Markello TC, Zein WM, Gropman AL, Lodish MB, Stratakis CA, Maric I, Rosenzweig SD, Baker EH, Ferreira CR, Danylchuk NR, Kahler S, Garnica AD, Bradley Schaefer G, Boerkoel CF, Gahl WA, Wolfe LA.

Mol Genet Metab. 2015 Jun-Jul;115(2-3):128-140. doi: 10.1016/j.ymgme.2015.04.007. Epub 2015 May 1.


Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY.

Samango-Sprouse C, Stapleton EJ, Lawson P, Mitchell F, Sadeghin T, Powell S, Gropman AL.

Am J Med Genet C Semin Med Genet. 2015 Jun;169(2):150-7. doi: 10.1002/ajmg.c.31437. Epub 2015 May 1.


MED23-associated intellectual disability in a non-consanguineous family.

Trehan A, Brady JM, Maduro V, Bone WP, Huang Y, Golas GA, Kane MS, Lee PR, Thurm A, Gropman AL, Paul SM, Vezina G, Markello TC, Gahl WA, Boerkoel CF, Tifft CJ.

Am J Med Genet A. 2015 Jun;167(6):1374-80. doi: 10.1002/ajmg.a.37047. Epub 2015 Apr 2.

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