Works matching IS 23732873 AND DT 2022 AND VI 8 AND IP 2

Results: 19

Personalized medicine for rare neurogenetic disorders: can we make it happen?

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006200

By:

van Eeghen, Agnies M.;
Bruining, Hilgo;
Wolf, Nicole I.;
Bergen, Arthur A.;
Houtkooper, Riekelt H.;
van Haelst, Mieke M.;
van Karnebeek, Clara D.

Publication type:

Article

Whole-exome sequencing detects PYGM variants in two adults with McArdle disease.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006173

By:

Thomas-Wilson, Amanda;
Dharmadhikari, Avinash V.;
Heymann, Jonas J.;
Jobanputra, Vaidehi;
DiMauro, Salvatore;
Hirano, Michio;
Naini, Ali B.;
Ganapathi, Mythily

Publication type:

Article

A hidden structural variation in a known IRD gene: a cautionary tale of two new disease candidate genes.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006131

By:

Scott, Hilary A.;
Larson, Anna;
Rong, Shi Song;
Mehrotra, Sudeep;
Butcher, Rossano;
Chao, Katherine R.;
Wiggs, Janey L.;
Place, Emily M.;
Pierce, Eric A.;
Bujakowska, Kinga M.

Publication type:

Article

Rare diseases: human genome research is coming home.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006210

By:

Ropers, Hans-Hilger;
van Karnebeek, Clara D.

Publication type:

Article

Autosomal recessive SLC30A9 variants in a proband with a cerebrorenal syndrome and no parental consanguinity.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006137

By:

Kleyner, Robert;
Arif, Mohammad;
Marchi, Elaine;
Horowitz, Naomi;
Haworth, Andrea;
King, Brian;
Gavin, Maureen;
Amble, Karen;
Velinov, Milen;
Lyon, Gholson J.

Publication type:

Article

Novel variants identified in CKAP2L in two siblings with Filippi syndrome.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006130

By:

Patrick, Ryan J.;
Weimer, Jill;
Davis-Keppen, Laura;
Landsverk, Megan L.

Publication type:

Article

Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literature.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006179

By:

Nguyen, Minh G.;
Tronick, Lauren;
Modirian, Faraz;
Mardach, Rebecca;
Besterman, Aaron D.

Publication type:

Article

Toward transcriptomics as a primary tool for rare disease investigation.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006198

By:

Montgomery, Stephen B.;
Bernstein, Jonathan A.;
Wheeler, Matthew T.

Publication type:

Article

A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006096

By:

Mentis, Alexios-Fotios A.;
Vlachakis, Dimitrios;
Papakonstantinou, Eleni;
Zaganas, Ioannis;
Patrinos, George P.;
Chrousos, George P.;
Dardiotis, Efthimios

Publication type:

Article

Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006165

By:

Ramadesikan, Swetha;
Hickey, Scott;
De Los Reyes, Emily;
Patel, Anup D.;
Franklin, Samuel J.;
Brennan, Patrick;
Crist, Erin;
Lee, Kristy;
White, Peter;
McBride, Kim L.;
Koboldt, Daniel C.;
Wilson, Richard K.

Publication type:

Article

2022: a pivotal year for diagnosis and treatment of rare genetic diseases.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006204

By:

Kingsmore, Stephen F.

Publication type:

Article

Expanding the clinical phenotype of FGFR1 internal tandem duplication.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006174

By:

Kautto, Esko A.;
Schieffer, Kathleen M.;
McGrath, Sean;
Miller, Anthony R.;
Hernandez-Gonzalez, Maria Elena;
Choi, Samantha;
Conces, Miriam R.;
Fernandez-Faith, Esteban;
Mai-Lan Ho;
Lee, Kristy;
Lillis, Anna P.;
Pearson, Gregory D.;
Kaler, Stephen G.;
Wilson, Richard K.;
Mardis, Elaine R.;
Magrini, Vincent;
Leonard, Jeffrey;
Cottrell, Catherine E.

Publication type:

Article

m.3685T >C is a novel mitochondrial DNAvariant that causes Leigh syndrome.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006136

By:

Jean, Jeffrey;
Christodoulou, Eirini;
Xiaowu Gai;
Tamrazi, Benita;
Vera, Moin;
Mitchell, Wendy G.;
Schmidt, Ryan J.

Publication type:

Article

Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006180

By:

Hunter, Jesse M.;
Massingham, Lauren J.;
Manickam, Kandamurugu;
Bartholomew, Dennis;
Williamson, Rachel K.;
Schwab, Jennifer L.;
Marhabaie, Mohammad;
Siemon, Amy;
de los Reyes, Emily;
Reshmi, Shalini C.;
Cottrell, Catherine E.;
Wilson, Richard K.;
Koboldt, Daniel C.

Publication type:

Article

Ethylmalonic encephalopathy masquerading as meningococcemia.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006193

By:

Horton, Ari;
Kai Mun Hong;
Pandithan, Dinusha;
Allen, Meredith;
Killick, Caroline;
Goergen, Stacy;
Springer, Amanda;
Phelan, Dean;
Marty, Melanie;
Halligan, Rebecca;
Lee, Joy;
Pitt, James;
Chong, Belinda;
Christodoulou, John;
Lunke, Sebastian;
Stark, Zornitza;
Fahey, Michael

Publication type:

Article

A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006185

By:

Hauth, Ingeborg;
Waterham, Hans R.;
Wanders, Ronald J. A.;
van der Crabben, Saskia N.;
van Karnebeek, Clara D. M.

Publication type:

Article

Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006103

By:

Hassan, Kamal;
Robay, Amal;
Al-Maraghi, Aljazi;
Nimeri, Nuha;
Azzam, Asmaa Basheer;
Shakaki, Alya Al;
Hamid, Eman;
Crysta, Ronald G.;
Fakhro, Khalid A.

Publication type:

Article

A case for newborn screening for pyridoxine-dependent epilepsy.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006197

By:

Coughlin II, Curtis R.;
Tseng, Laura A.;
van Karnebeek, Clara D. M.

Publication type:

Article

Patient perspective: my rare disease journey.

Published in:

Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006205

By:

Alvarez, Rachel

Publication type:

Article