Search | VHL CLAP/WR-PAHO/WHO

1.

De novo missense variants in phosphatidylinositol kinase PIP5KIÎ³ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

Morleo, Manuela; Venditti, Rossella; Theodorou, Evangelos; Briere, Lauren C; Rosello, Marion; Tirozzi, Alfonsina; Tammaro, Roberta; Al-Badri, Nour; High, Frances A; Shi, Jiahai; Putti, Elena; Ferrante, Luigi; Cetrangolo, Viviana; Torella, Annalaura; Walker, Melissa A; Tenconi, Romano; Iascone, Maria; Mei, Davide; Guerrini, Renzo; van der Smagt, Jasper; Kroes, Hester Y; van Gassen, Koen L I; Bilal, Muhammad; Umair, Muhammad; Pingault, Veronica; Attie-Bitach, Tania; Amiel, Jeannine; Ejaz, Resham; Rodan, Lance; Zollino, Marcella; Agrawal, Pankaj B; Del Bene, Filippo; Nigro, Vincenzo; Sweetser, David A; Franco, Brunella.

Am J Hum Genet ; 110(8): 1377-1393, 2023 08 03.

Article in English | MEDLINE | ID: mdl-37451268

2.

The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.

Huang, Yan; Lemire, Gabrielle; Briere, Lauren C; Liu, Fang; Wessels, Marja W; Wang, Xueqi; Osmond, Matthew; Kanca, Oguz; Lu, Shenzhao; High, Frances A; Walker, Melissa A; Rodan, Lance H; Kernohan, Kristin D; Sweetser, David A; Boycott, Kym M; Bellen, Hugo J.

Am J Hum Genet ; 109(10): 1923-1931, 2022 10 06.

Article in English | MEDLINE | ID: mdl-36067766

3.

T cell activation contributes to purifying selection against the MELAS-associated m.3243A>G pathogenic variant in blood.

Walker, Melissa A; Li, Shuqiang; Livak, Kenneth J; Karaa, Amel; Wu, Catherine J; Mootha, Vamsi K.

J Inherit Metab Dis ; 2024 Mar 18.

Article in English | MEDLINE | ID: mdl-38499449

4.

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.

Guillen Sacoto, Maria J; Tchasovnikarova, Iva A; Torti, Erin; Forster, Cara; Andrew, E Hallie; Anselm, Irina; Baranano, Kristin W; Briere, Lauren C; Cohen, Julie S; Craigen, William J; Cytrynbaum, Cheryl; Ekhilevitch, Nina; Elrick, Matthew J; Fatemi, Ali; Fraser, Jamie L; Gallagher, Renata C; Guerin, Andrea; Haynes, Devon; High, Frances A; Inglese, Cara N; Kiss, Courtney; Koenig, Mary Kay; Krier, Joel; Lindstrom, Kristin; Marble, Michael; Meddaugh, Hannah; Moran, Ellen S; Morel, Chantal F; Mu, Weiyi; Muller, Eric A; Nance, Jessica; Natowicz, Marvin R; Numis, Adam L; Ostrem, Bridget; Pappas, John; Stafstrom, Carl E; Streff, Haley; Sweetser, David A; Szybowska, Marta; Walker, Melissa A; Wang, Wei; Weiss, Karin; Weksberg, Rosanna; Wheeler, Patricia G; Yoon, Grace; Kingston, Robert E; Juusola, Jane.

Am J Hum Genet ; 107(2): 352-363, 2020 08 06.

Article in English | MEDLINE | ID: mdl-32693025

5.

Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells.

Walker, Melissa A; Lareau, Caleb A; Ludwig, Leif S; Karaa, Amel; Sankaran, Vijay G; Regev, Aviv; Mootha, Vamsi K.

N Engl J Med ; 383(16): 1556-1563, 2020 10 15.

Article in English | MEDLINE | ID: mdl-32786181

6.

MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations.

Rath, Sneha; Sharma, Rohit; Gupta, Rahul; Ast, Tslil; Chan, Connie; Durham, Timothy J; Goodman, Russell P; Grabarek, Zenon; Haas, Mary E; Hung, Wendy H W; Joshi, Pallavi R; Jourdain, Alexis A; Kim, Sharon H; Kotrys, Anna V; Lam, Stephanie S; McCoy, Jason G; Meisel, Joshua D; Miranda, Maria; Panda, Apekshya; Patgiri, Anupam; Rogers, Robert; Sadre, Shayan; Shah, Hardik; Skinner, Owen S; To, Tsz-Leung; Walker, Melissa A; Wang, Hong; Ward, Patrick S; Wengrod, Jordan; Yuan, Chen-Ching; Calvo, Sarah E; Mootha, Vamsi K.

Nucleic Acids Res ; 49(D1): D1541-D1547, 2021 01 08.

Article in English | MEDLINE | ID: mdl-33174596

7.

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.

Dutta, Debdeep; Briere, Lauren C; Kanca, Oguz; Marcogliese, Paul C; Walker, Melissa A; High, Frances A; Vanderver, Adeline; Krier, Joel; Carmichael, Nikkola; Callahan, Christine; Taft, Ryan J; Simons, Cas; Helman, Guy; Network, Undiagnosed Diseases; Wangler, Michael F; Yamamoto, Shinya; Sweetser, David A; Bellen, Hugo J.

Hum Mol Genet ; 29(9): 1568-1579, 2020 06 03.

Article in English | MEDLINE | ID: mdl-32356556

8.

Case 12-2024: A 58-Year-Old Woman with Confusion, Aphasia, and Abnormal Head Imaging.

Linnoila, Jenny J; Rapalino, Otto; Walker, Melissa A; Martinez-Lage, Maria.

N Engl J Med ; 390(15): 1421-1430, 2024 Apr 18.

Article in English | MEDLINE | ID: mdl-38631006

9.

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.

Ganapathi, Mythily; Friocourt, Gaelle; Gueguen, Naig; Friederich, Marisa W; Le Gac, Gerald; Okur, Volkan; Loaëc, Nadège; Ludwig, Thomas; Ka, Chandran; Tanji, Kurenai; Marcorelles, Pascale; Theodorou, Evangelos; Lignelli-Dipple, Angela; Voisset, Cécile; Walker, Melissa A; Briere, Lauren C; Bourhis, Amélie; Blondel, Marc; LeDuc, Charles; Hagen, Jacob; Cooper, Cathleen; Muraresku, Colleen; Ferec, Claude; Garenne, Armelle; Lelez-Soquet, Servane; Rogers, Cassandra A; Shen, Yufeng; Strode, Dana K; Bizargity, Peyman; Iglesias, Alejandro; Goldstein, Amy; High, Frances A; Network, Undiagnosed Diseases; Sweetser, David A; Ganetzky, Rebecca; Van Hove, Johan L K; Procaccio, Vincent; Le Marechal, Cedric; Chung, Wendy K.

J Inherit Metab Dis ; 45(5): 996-1012, 2022 09.

Article in English | MEDLINE | ID: mdl-35621276

10.

PIGG variant pathogenicity assessment reveals characteristic features within 19 families.

Tremblay-Laganière, Camille; Maroofian, Reza; Nguyen, Thi Tuyet Mai; Karimiani, Ehsan Ghayoor; Kirmani, Salman; Akbar, Fizza; Ibrahim, Shahnaz; Afroze, Bushra; Doosti, Mohammad; Ashrafzadeh, Farah; Babaei, Meisam; Efthymiou, Stephanie; Christoforou, Marilena; Sultan, Tipu; Ladda, Roger L; McLaughlin, Heather M; Truty, Rebecca; Mahida, Sonal; Cohen, Julie S; Baranano, Kristin; Ismail, Fatima Y; Patel, Millan S; Lehman, Anna; Edmondson, Andrew C; Nagy, Amanda; Walker, Melissa A; Mercimek-Andrews, Saadet; Maki, Yuta; Sachdev, Rani; Macintosh, Rebecca; Palmer, Elizabeth E; Mancini, Grazia M S; Barakat, Tahsin Stefan; Steinfeld, Robert; Rüsch, Christina T; Stettner, Georg M; Wagner, Matias; Wortmann, Saskia B; Kini, Usha; Brady, Angela F; Stals, Karen L; Ismayilova, Naila; Ellard, Sian; Bernardo, Danilo; Nugent, Kimberly; McLean, Scott D; Antonarakis, Stylianos E; Houlden, Henry; Kinoshita, Taroh; Campeau, Philippe M.

Genet Med ; 23(10): 1873-1881, 2021 10.

Article in English | MEDLINE | ID: mdl-34113002

11.

Hereditary Myelopathies.

Walker, Melissa A.

Semin Neurol ; 41(3): 303-308, 2021 06.

Article in English | MEDLINE | ID: mdl-33663004

12.

The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.

Huang, Yan; Lemire, Gabrielle; Briere, Lauren C; Liu, Fang; Wessels, Marja W; Wang, Xueqi; Osmond, Matthew; Kanca, Oguz; Lu, Shenzhao; High, Frances A; Walker, Melissa A; Rodan, Lance H; Wangler, Michael F; Yamamoto, Shinya; Kernohan, Kristin D; Sweetser, David A; Boycott, Kym M; Bellen, Hugo J.

Am J Hum Genet ; 109(11): 2092, 2022 Nov 03.

Article in English | MEDLINE | ID: mdl-36332614

13.

Case 40-2021: A 9-Year-Old Boy with Transient Weakness, Facial Droop, and Slurred Speech.

Bernson-Leung, Miya E; Rapalino, Otto; Walker, Melissa A; Butler, William E.

N Engl J Med ; 385(27): 2563-2572, 2021 Dec 30.

Article in English | MEDLINE | ID: mdl-34965341

14.

Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia.

Walker, Melissa A; Lerman-Sagie, Tally; Swoboda, Kathryn; Lev, Dorit; Blumkin, Lubov.

Am J Med Genet A ; 179(8): 1575-1579, 2019 08.

Article in English | MEDLINE | ID: mdl-31168944

15.

5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.

Rodan, Lance H; Qi, Wanshu; Ducker, Gregory S; Demirbas, Didem; Laine, Regina; Yang, Edward; Walker, Melissa A; Eichler, Florian; Rabinowitz, Joshua D; Anselm, Irina; Berry, Gerard T.

Mol Genet Metab ; 125(1-2): 118-126, 2018 09.

Article in English | MEDLINE | ID: mdl-30031689

16.

Crystal structures of Drosophila N-cadherin ectodomain regions reveal a widely used class of Ca²+-free interdomain linkers.

Jin, Xiangshu; Walker, Melissa A; Felsövályi, Klára; Vendome, Jeremie; Bahna, Fabiana; Mannepalli, Seetha; Cosmanescu, Filip; Ahlsen, Goran; Honig, Barry; Shapiro, Lawrence.

Proc Natl Acad Sci U S A ; 109(3): E127-34, 2012 Jan 17.

Article in English | MEDLINE | ID: mdl-22171007

17.

Endocrine features of primary mitochondrial diseases.

Romo, Lindsay; Gold, Nina B; Walker, Melissa A.

Curr Opin Endocrinol Diabetes Obes ; 31(1): 34-42, 2024 Feb 01.

Article in English | MEDLINE | ID: mdl-38047549

18.

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.

Jangam, Sharayu; Briere, Lauren C; Jay, Kristy; Andrews, Jonathan C; Walker, Melissa A; Rodan, Lance H; High, Frances A; Yamamoto, Shinya; Sweetser, David A; Wangler, Michael.

medRxiv ; 2023 Feb 03.

Article in English | MEDLINE | ID: mdl-36778246

19.

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.

Jangam, Sharayu V; Briere, Lauren C; Jay, Kristy L; Andrews, Jonathan C; Walker, Melissa A; Rodan, Lance H; High, Frances A; Yamamoto, Shinya; Sweetser, David A; Wangler, Michael F.

Genetics ; 224(4)2023 08 09.

Article in English | MEDLINE | ID: mdl-37314226

20.

On the dynamic and even reversible nature of Leigh syndrome: Lessons from human imaging and mouse models.

Walker, Melissa A; Miranda, Maria; Allred, Amanda; Mootha, Vamsi K.

Curr Opin Neurobiol ; 72: 80-90, 2022 02.

Article in English | MEDLINE | ID: mdl-34656053

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De novo missense variants in phosphatidylinositol kinase PIP5KIÎ³ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.

T cell activation contributes to purifying selection against the MELAS-associated m.3243A>G pathogenic variant in blood.

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.

Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells.

MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations.

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.

Case 12-2024: A 58-Year-Old Woman with Confusion, Aphasia, and Abnormal Head Imaging.

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.

PIGG variant pathogenicity assessment reveals characteristic features within 19 families.

Hereditary Myelopathies.

The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.

Case 40-2021: A 9-Year-Old Boy with Transient Weakness, Facial Droop, and Slurred Speech.

Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia.

5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.

Crystal structures of Drosophila N-cadherin ectodomain regions reveal a widely used class of Ca²+-free interdomain linkers.

Endocrine features of primary mitochondrial diseases.

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.

On the dynamic and even reversible nature of Leigh syndrome: Lessons from human imaging and mouse models.