Search | Virtual Health Library

1.

A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.

Ammous, Zineb; Rawlins, Lettie E; Jones, Hannah; Leslie, Joseph S; Wenger, Olivia; Scott, Ethan; Deline, Jim; Herr, Tom; Evans, Rebecca; Scheid, Angela; Kennedy, Joanna; Chioza, Barry A; Ames, Ryan M; Cross, Harold E; Puffenberger, Erik G; Harries, Lorna; Baple, Emma L; Crosby, Andrew H.

PLoS Genet ; 17(9): e1009803, 2021 09.

Article in English | MEDLINE | ID: mdl-34570759

2.

No association between SCN9A and monogenic human epilepsy disorders.

Fasham, James; Leslie, Joseph S; Harrison, Jamie W; Deline, James; Williams, Katie B; Kuhl, Ashley; Scott Schwoerer, Jessica; Cross, Harold E; Crosby, Andrew H; Baple, Emma L.

PLoS Genet ; 16(11): e1009161, 2020 11.

Article in English | MEDLINE | ID: mdl-33216760

3.

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.

Jeffries, Aaron R; Maroofian, Reza; Salter, Claire G; Chioza, Barry A; Cross, Harold E; Patton, Michael A; Dempster, Emma; Temple, I Karen; Mackay, Deborah J G; Rezwan, Faisal I; Aksglaede, Lise; Baralle, Diana; Dabir, Tabib; Hunter, Matthew F; Kamath, Arveen; Kumar, Ajith; Newbury-Ecob, Ruth; Selicorni, Angelo; Springer, Amanda; Van Maldergem, Lionel; Varghese, Vinod; Yachelevich, Naomi; Tatton-Brown, Katrina; Mill, Jonathan; Crosby, Andrew H; Baple, Emma L.

Genome Res ; 29(7): 1057-1066, 2019 07.

Article in English | MEDLINE | ID: mdl-31160375

4.

Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.

Leslie, Joseph S; Hjeij, Rim; Vivante, Asaf; Bearce, Elizabeth A; Dyer, Laura; Wang, Jiaolong; Rawlins, Lettie; Kennedy, Joanna; Ubeyratna, Nishanka; Fasham, James; Irons, Zoe H; Craig, Samuel B; Koenig, Julia; George, Sebastian; Pode-Shakked, Ben; Bolkier, Yoav; Barel, Ortal; Mane, Shrikant; Frederiksen, Kathrine K; Wenger, Olivia; Scott, Ethan; Cross, Harold E; Lorentzen, Esben; Norris, Dominic P; Anikster, Yair; Omran, Heymut; Grimes, Daniel T; Crosby, Andrew H; Baple, Emma L.

Genet Med ; 24(11): 2249-2261, 2022 11.

Article in English | MEDLINE | ID: mdl-36074124

5.

Biallelic PI4KA variants cause neurological, intestinal and immunological disease.

Salter, Claire G; Cai, Yiying; Lo, Bernice; Helman, Guy; Taylor, Henry; McCartney, Amber; Leslie, Joseph S; Accogli, Andrea; Zara, Federico; Traverso, Monica; Fasham, James; Lees, Joshua A; Ferla, Matteo P; Chioza, Barry A; Wenger, Olivia; Scott, Ethan; Cross, Harold E; Crawford, Joanna; Warshawsky, Ilka; Keisling, Matthew; Agamanolis, Dimitris; Ward Melver, Catherine; Cox, Helen; Elawad, Mamoun; Marton, Tamas; Wakeling, Matthew N; Holzinger, Dirk; Tippelt, Stephan; Munteanu, Martin; Valcheva, Deyana; Deal, Christin; Van Meerbeke, Sara; Walsh Vockley, Catherine; Butte, Manish J; Acar, Utkucan; van der Knaap, Marjo S; Korenke, G Christoph; Kotzaeridou, Urania; Balla, Tamas; Simons, Cas; Uhlig, Holm H; Crosby, Andrew H; De Camilli, Pietro; Wolf, Nicole I; Baple, Emma L.

Brain ; 144(12): 3597-3610, 2021 12 31.

Article in English | MEDLINE | ID: mdl-34415310

6.

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.

Muggenthaler, Martina M A; Chowdhury, Biswajit; Hasan, S Naimul; Cross, Harold E; Mark, Brian; Harlalka, Gaurav V; Patton, Michael A; Ishida, Miho; Behr, Elijah R; Sharma, Sanjay; Zahka, Kenneth; Faqeih, Eissa; Blakley, Brian; Jackson, Mike; Lees, Melissa; Dolinsky, Vernon; Cross, Leroy; Stanier, Philip; Salter, Claire; Baple, Emma L; Alkuraya, Fowzan S; Crosby, Andrew H; Triggs-Raine, Barbara; Chioza, Barry A.

PLoS Genet ; 13(1): e1006470, 2017 Jan.

Article in English | MEDLINE | ID: mdl-28081210

7.

Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.

Baple, Emma L; Maroofian, Reza; Chioza, Barry A; Izadi, Maryam; Cross, Harold E; Al-Turki, Saeed; Barwick, Katy; Skrzypiec, Anna; Pawlak, Robert; Wagner, Karin; Coblentz, Roselyn; Zainy, Tala; Patton, Michael A; Mansour, Sahar; Rich, Phillip; Qualmann, Britta; Hurles, Matt E; Kessels, Michael M; Crosby, Andrew H.

Am J Hum Genet ; 94(1): 87-94, 2014 Jan 02.

Article in English | MEDLINE | ID: mdl-24239382

8.

A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression.

Wilson, William C; Hornig-Do, Hue-Tran; Bruni, Francesco; Chang, Jeong Ho; Jourdain, Alexis A; Martinou, Jean-Claude; Falkenberg, Maria; Spåhr, Henrik; Larsson, Nils-Göran; Lewis, Richard J; Hewitt, Lorraine; Baslé, Arnaud; Cross, Harold E; Tong, Liang; Lebel, Robert R; Crosby, Andrew H; Chrzanowska-Lightowlers, Zofia M A; Lightowlers, Robert N.

Hum Mol Genet ; 23(23): 6345-55, 2014 Dec 01.

Article in English | MEDLINE | ID: mdl-25008111

9.

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.

Jinks, Robert N; Puffenberger, Erik G; Baple, Emma; Harding, Brian; Crino, Peter; Fogo, Agnes B; Wenger, Olivia; Xin, Baozhong; Koehler, Alanna E; McGlincy, Madeleine H; Provencher, Margaret M; Smith, Jeffrey D; Tran, Linh; Al Turki, Saeed; Chioza, Barry A; Cross, Harold; Harlalka, Gaurav V; Hurles, Matthew E; Maroofian, Reza; Heaps, Adam D; Morton, Mary C; Stempak, Lisa; Hildebrandt, Friedhelm; Sadowski, Carolin E; Zaritsky, Joshua; Campellone, Kenneth; Morton, D Holmes; Wang, Heng; Crosby, Andrew; Strauss, Kevin A.

Brain ; 138(Pt 8): 2173-90, 2015 Aug.

Article in English | MEDLINE | ID: mdl-26070982

10.

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

Harlalka, Gaurav V; Lehman, Anna; Chioza, Barry; Baple, Emma L; Maroofian, Reza; Cross, Harold; Sreekantan-Nair, Ajith; Priestman, David A; Al-Turki, Saeed; McEntagart, Meriel E; Proukakis, Christos; Royle, Louise; Kozak, Radoslaw P; Bastaki, Laila; Patton, Michael; Wagner, Karin; Coblentz, Roselyn; Price, Joy; Mezei, Michelle; Schlade-Bartusiak, Kamilla; Platt, Frances M; Hurles, Matthew E; Crosby, Andrew H.

Brain ; 136(Pt 12): 3618-24, 2013 Dec.

Article in English | MEDLINE | ID: mdl-24103911

11.

Mutation of HERC2 causes developmental delay with Angelman-like features.

Harlalka, Gaurav V; Baple, Emma L; Cross, Harold; Kühnle, Simone; Cubillos-Rojas, Monica; Matentzoglu, Konstantin; Patton, Michael A; Wagner, Karin; Coblentz, Roselyn; Ford, Debra L; Mackay, Deborah J G; Chioza, Barry A; Scheffner, Martin; Rosa, Jose Luis; Crosby, Andrew H.

J Med Genet ; 50(2): 65-73, 2013 Feb.

Article in English | MEDLINE | ID: mdl-23243086

12.

Defective mitochondrial mRNA maturation is associated with spastic ataxia.

Crosby, Andrew H; Patel, Heema; Chioza, Barry A; Proukakis, Christos; Gurtz, Kay; Patton, Michael A; Sharifi, Reza; Harlalka, Gaurav; Simpson, Michael A; Dick, Katherine; Reed, Johanna A; Al-Memar, Ali; Chrzanowska-Lightowlers, Zofia M A; Cross, Harold E; Lightowlers, Robert N.

Am J Hum Genet ; 87(5): 655-60, 2010 Nov 12.

Article in English | MEDLINE | ID: mdl-20970105

13.

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

Patel, Heema; Cross, Harold; Proukakis, Christos; Hershberger, Ruth; Bork, Peer; Ciccarelli, Francesca D; Patton, Michael A; McKusick, Victor A; Crosby, Andrew H.

Nat Genet ; 31(4): 347-8, 2002 Aug.

Article in English | MEDLINE | ID: mdl-12134148

14.

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

Simpson, Michael A; Cross, Harold; Proukakis, Christos; Priestman, David A; Neville, David C A; Reinkensmeier, Gabriele; Wang, Heng; Wiznitzer, Max; Gurtz, Kay; Verganelaki, Argyro; Pryde, Anna; Patton, Michael A; Dwek, Raymond A; Butters, Terry D; Platt, Frances M; Crosby, Andrew H.

Nat Genet ; 36(11): 1225-9, 2004 Nov.

Article in English | MEDLINE | ID: mdl-15502825

15.

Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).

Lin, Siying; Sanchez-Bretaño, Aida; Leslie, Joseph S; Williams, Katie B; Lee, Helena; Thomas, N Simon; Callaway, Jonathan; Deline, James; Ratnayaka, J Arjuna; Baralle, Diana; Schmitt, Melanie A; Norman, Chelsea S; Hammond, Sheri; Harlalka, Gaurav V; Ennis, Sarah; Cross, Harold E; Wenger, Olivia; Crosby, Andrew H; Baple, Emma L; Self, Jay E.

NPJ Genom Med ; 7(1): 2, 2022 Jan 13.

Article in English | MEDLINE | ID: mdl-35027574

16.

Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.

Rickman, Olivia J; Salter, Claire G; Gunning, Adam C; Fasham, James; Voutsina, Nikol; Leslie, Joseph S; McGavin, Lucy; Cross, Harold E; Posey, Jennifer E; Akdemir, Zeynep Coban; Jhangiani, Shalini N; Lupski, James R; Baple, Emma L; Crosby, Andrew H.

Parkinsonism Relat Disord ; 82: 84-86, 2021 01.

Article in English | MEDLINE | ID: mdl-33260061

17.

MNS1 variant associated with situs inversus and male infertility.

Leslie, Joseph S; Rawlins, Lettie E; Chioza, Barry A; Olubodun, Oluwaseun R; Salter, Claire G; Fasham, James; Jones, Hannah F; Cross, Harold E; Lam, Simon; Harlalka, Gaurav V; Muggenthaler, Martina M A; Crosby, Andrew H; Baple, Emma L.

Eur J Hum Genet ; 28(1): 50-55, 2020 01.

Article in English | MEDLINE | ID: mdl-31534215

18.

Predicting mortality from noncardiac surgery.

Cross, Harold Dick.

Ann Surg ; 259(1): e1, 2014 Jan.

Article in English | MEDLINE | ID: mdl-23799420

19.

Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3.

Simpson, Michael A; Cross, Harold E; Cross, Leroy; Helmuth, Mervin; Crosby, Andrew H.

Am J Kidney Dis ; 53(5): 790-5, 2009 May.

Article in English | MEDLINE | ID: mdl-19303681

20.

A data flow sheet for managing unstable patients in the emergency department.

Cross, Harold.

Jt Comm J Qual Patient Saf ; 32(4): 221-4, 2006 Apr.

Article in English | MEDLINE | ID: mdl-16649653

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