Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

129 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
Niceta M, Pizzi S, Inzana F, Peron A, Bakhtiari S, Nizon M, Levy J, Mancini C, Cogné B, Radio FC, Agolini E, Cocciadiferro D, Novelli A, Salih MA, Recalcati MP, Arancio R, Besnard M, Tabet AC, Kruer MC, Priolo M, Dallapiccola B, Tartaglia M. Niceta M, et al. Among authors: kruer mc. Clin Genet. 2023 Feb;103(2):156-166. doi: 10.1111/cge.14247. Epub 2022 Nov 24. Clin Genet. 2023. PMID: 36224108 Free PMC article.
Clinical actionability of genetic findings in cerebral palsy.
Lewis SA, Chopra M, Cohen JS, Bain J, Aravamuthan B, Carmel JB, Fahey MC, Segel R, Wintle RF, Zech M, May H, Haque N, Fehlings D, Srivastava S, Kruer MC. Lewis SA, et al. Among authors: kruer mc. medRxiv [Preprint]. 2023 Sep 11:2023.09.08.23295195. doi: 10.1101/2023.09.08.23295195. medRxiv. 2023. PMID: 37745357 Free PMC article. Preprint.
Identification of critical regions for clinical features of distal 10q deletion syndrome.
Yatsenko SA, Kruer MC, Bader PI, Corzo D, Schuette J, Keegan CE, Nowakowska B, Peacock S, Cai WW, Peiffer DA, Gunderson KL, Ou Z, Chinault AC, Cheung SW. Yatsenko SA, et al. Among authors: kruer mc. Clin Genet. 2009 Jul;76(1):54-62. doi: 10.1111/j.1399-0004.2008.01115.x. Epub 2009 Jun 22. Clin Genet. 2009. PMID: 19558528 Free article.
Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.
Salih MA, Seidahmed MZ, El Khashab HY, Hamad MH, Bosley TM, Burn S, Myers A, Landsverk ML, Crotwell PL, Bilguvar K, Mane S, Kruer MC. Salih MA, et al. Among authors: kruer mc. Tremor Other Hyperkinet Mov (N Y). 2015 Jul 9;5:306. doi: 10.7916/D8D21WQ0. eCollection 2015. Tremor Other Hyperkinet Mov (N Y). 2015. PMID: 26203402 Free PMC article.
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.
Madeo M, Stewart M, Sun Y, Sahir N, Wiethoff S, Chandrasekar I, Yarrow A, Rosenfeld JA, Yang Y, Cordeiro D, McCormick EM, Muraresku CC, Jepperson TN, McBeth LJ, Seidahmed MZ, El Khashab HY, Hamad M, Azzedine H, Clark K, Corrochano S, Wells S, Elting MW, Weiss MM, Burn S, Myers A, Landsverk M, Crotwell PL, Waisfisz Q, Wolf NI, Nolan PM, Padilla-Lopez S, Houlden H, Lifton R, Mane S, Singh BB, Falk MJ, Mercimek-Mahmutoglu S, Bilguvar K, Salih MA, Acevedo-Arozena A, Kruer MC. Madeo M, et al. Among authors: kruer mc. Am J Hum Genet. 2016 Jun 2;98(6):1249-1255. doi: 10.1016/j.ajhg.2016.04.008. Epub 2016 May 26. Am J Hum Genet. 2016. PMID: 27236917 Free PMC article.
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.
Nabais Sá MJ, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, Piton A, Vincent-Delorme C, Zweier C, Reis A, Trollmann R, Ruiz A, Gabau E, Vetro A, Guerrini R, Bakhtiari S, Kruer MC, Amor DJ, Cooper MS, Bijlsma EK, Barakat TS, van Dooren MF, van Slegtenhorst M, Pfundt R, Gilissen C, Willemsen MA, de Vries BBA, de Brouwer APM, Koolen DA. Nabais Sá MJ, et al. Among authors: kruer mc. Genet Med. 2020 Apr;22(4):797-802. doi: 10.1038/s41436-019-0703-y. Epub 2019 Nov 28. Genet Med. 2020. PMID: 31776469 Free article.
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.
Wagner M, Lévy J, Jung-Klawitter S, Bakhtiari S, Monteiro F, Maroofian R, Bierhals T, Hempel M, Elmaleh-Bergès M, Kitajima JP, Kim CA, Salomao JG, Amor DJ, Cooper MS, Perrin L, Pipiras E, Neu A, Doosti M, Karimiani EG, Toosi MB, Houlden H, Jin SC, Si YC, Rodan LH, Venselaar H, Kruer MC, Kok F, Hoffmann GF, Strom TM, Wortmann SB, Tabet AC, Opladen T. Wagner M, et al. Among authors: kruer mc. Genet Med. 2020 Jun;22(6):1061-1068. doi: 10.1038/s41436-020-0768-7. Epub 2020 Feb 26. Genet Med. 2020. PMID: 32099069 Free article.
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Rodger C, Flex E, Allison RJ, Sanchis-Juan A, Hasenahuer MA, Cecchetti S, French CE, Edgar JR, Carpentieri G, Ciolfi A, Pantaleoni F, Bruselles A; Genomics England Research Consortium; Onesimo R, Zampino G, Marcon F, Siniscalchi E, Lees M, Krishnakumar D, McCann E, Yosifova D, Jarvis J, Kruer MC, Marks W, Campbell J, Allen LE, Gustincich S, Raymond FL, Tartaglia M, Reid E. Rodger C, et al. Among authors: kruer mc. Am J Hum Genet. 2020 Dec 3;107(6):1129-1148. doi: 10.1016/j.ajhg.2020.10.012. Epub 2020 Nov 12. Am J Hum Genet. 2020. PMID: 33186545 Free PMC article.
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
Alsharhan H, He M, Edmondson AC, Daniel EJP, Chen J, Donald T, Bakhtiari S, Amor DJ, Jones EA, Vassallo G, Vincent M, Cogné B, Deb W, Werners AH, Jin SC, Bilguvar K, Christodoulou J, Webster RI, Yearwood KR, Ng BG, Freeze HH, Kruer MC, Li D, Raymond KM, Bhoj EJ, Sobering AK. Alsharhan H, et al. Among authors: kruer mc. J Inherit Metab Dis. 2021 Jul;44(4):1001-1012. doi: 10.1002/jimd.12378. Epub 2021 Mar 26. J Inherit Metab Dis. 2021. PMID: 33734437 Free PMC article.
129 results