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1.

Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.

George, Aman; Zand, Dina J; Hufnagel, Robert B; Sharma, Ruchi; Sergeev, Yuri V; Legare, Janet M; Rice, Gregory M; Scott Schwoerer, Jessica A; Rius, Mariana; Tetri, Laura; Gamm, David M; Bharti, Kapil; Brooks, Brian P.

Am J Hum Genet ; 99(6): 1388-1394, 2016 Dec 01.

Artigo em Inglês | MEDLINE | ID: mdl-27889061

2.

Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy.

Tam, Allison; AlDhaheri, Noura Salem; Mysore, Krupa; Tessier, Mary Elizabeth; Goss, John; Fernandez, Luis A; D'Alessandro, Anthony M; Schwoerer, Jessica Scott; Rice, Gregory M; Elsea, Sarah H; Scaglia, Fernando.

Am J Med Genet A ; 179(6): 1015-1019, 2019 06.

Artigo em Inglês | MEDLINE | ID: mdl-30864297

3.

Volatile anesthesia for a pediatric patient with very long-chain acyl-coenzyme A dehydrogenase deficiency: A case report.

Hess, Aaron S; Rice, Gregory M; Jochman, John D; Muldowney, Bridget L.

Paediatr Anaesth ; 28(3): 296-297, 2018 03.

Artigo em Inglês | MEDLINE | ID: mdl-29316010

4.

Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree.

Hendee, Kathryn; Wang, Lauren Weiping; Reis, Linda M; Rice, Gregory M; Apte, Suneel S; Semina, Elena V.

Hum Mutat ; 38(11): 1485-1490, 2017 11.

Artigo em Inglês | MEDLINE | ID: mdl-28722276

5.

Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome.

Reynolds, Kara K; Juusola, Jane; Rice, Gregory M; Giampietro, Philip F.

Am J Med Genet A ; 173(10): 2776-2781, 2017 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-28817240

6.

Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency.

Kellom, Elizabeth R; Wolf, Barry; Rice, Gregory M; Stepien, Kimberly E.

J Neuroophthalmol ; 41(1): e27-e30, 2021 03 01.

Artigo em Inglês | MEDLINE | ID: mdl-32235217

7.

Inborn Errors of Metabolism (Metabolic Disorders).

Rice, Gregory M; Steiner, Robert D.

Pediatr Rev ; 37(1): 3-15; quiz 16-7, 47, 2016 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-26729777

8.

Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial.

Longo, Nicola; Harding, Cary O; Burton, Barbara K; Grange, Dorothy K; Vockley, Jerry; Wasserstein, Melissa; Rice, Gregory M; Dorenbaum, Alejandro; Neuenburg, Jutta K; Musson, Donald G; Gu, Zhonghua; Sile, Saba.

Lancet ; 384(9937): 37-44, 2014 Jul 05.

Artigo em Inglês | MEDLINE | ID: mdl-24743000

9.

Phenotype of FOXP2 haploinsufficiency in a mother and son.

Rice, Gregory M; Raca, Gordana; Jakielski, Kathy J; Laffin, Jennifer J; Iyama-Kurtycz, Christina M; Hartley, Sigan L; Sprague, Rae E; Heintzelman, Anne T; Shriberg, Lawrence D.

Am J Med Genet A ; 158A(1): 174-81, 2012 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-22106036

10.

Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy.

Lim, Jaehyung; Shayota, Brian J; Lay, Erica; Elsea, Sarah H; Bekheirnia, Mir Reza; Tessier, Mary Elizabeth M; Kralik, Stephen F; Rice, Gregory M; Soler-Alfonso, Claudia; Scaglia, Fernando.

J Child Neurol ; 36(10): 841-852, 2021 09.

Artigo em Inglês | MEDLINE | ID: mdl-33900143

11.

A case of congenitally absent left internal carotid artery: vascular malformations in 22q11.2 deletion syndrome.

Johnson, Matthew D; Gentry, Lindell R; Rice, Gregory M; Mount, Delora L.

Cleft Palate Craniofac J ; 47(3): 314-7, 2010 May.

Artigo em Inglês | MEDLINE | ID: mdl-19860531

12.

Familial segregation of a 5q15-q21.2 deletion associated with facial dysmorphism and speech delay.

Zepeda-Mendoza, Cinthya; Goodenberger, McKinsey L; Kuhl, Ashley; Rice, Gregory M; Hoppman, Nicole.

Clin Case Rep ; 7(6): 1154-1160, 2019 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-31183085

13.

Newborn Screening for Inherited Metabolic Disorders: Early Identification and Long-Term Care for Patients in the Plain Community, Wisconsin, 2011-2017.

Held, Patrice K; Rice, Gregory M; Kuhl, Ashley; Drilias, Nicoletta; Baker, Mei; Deline, James; Spicer, Gretchen; Sandrock, Claire; Seroogy, Christine M; Schwoerer, Jessica Scott.

Public Health Rep ; 134(2_suppl): 58S-63S, 2019.

Artigo em Inglês | MEDLINE | ID: mdl-31682555

14.

The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia.

Dimmock, David P; Trapane, Pamela; Feigenbaum, Annette; Keegan, Catherine E; Cederbaum, Stephen; Gibson, James; Gambello, Michael J; Vaux, Keith; Ward, Patricia; Rice, Gregory M; Wolff, Jon A; O'Brien, William E; Fang, Ping.

Am J Med Genet A ; 146A(22): 2885-90, 2008 Nov 15.

Artigo em Inglês | MEDLINE | ID: mdl-18925679

15.

Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community.

Scott Schwoerer, Jessica; van Calcar, Sandra; Rice, Gregory M; Deline, James.

Mol Genet Metab Rep ; 8: 4-7, 2016 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-28649556

16.

Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial.

Ney, Denise M; Stroup, Bridget M; Clayton, Murray K; Murali, Sangita G; Rice, Gregory M; Rohr, Frances; Levy, Harvey L.

Am J Clin Nutr ; 104(2): 334-45, 2016 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-27413125

17.

Clinical relevance of the discrepancy in phenylalanine concentrations analyzed using tandem mass spectrometry compared with ion-exchange chromatography in phenylketonuria.

Stroup, Bridget M; Held, Patrice K; Williams, Phillip; Clayton, Murray K; Murali, Sangita G; Rice, Gregory M; Ney, Denise M.

Mol Genet Metab Rep ; 6: 21-6, 2016 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-27014575

18.

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

Balestrini, Simona; Milh, Mathieu; Castiglioni, Claudia; Lüthy, Kevin; Finelli, Mattea J; Verstreken, Patrik; Cardon, Aaron; Strazisar, Barbara Gnidovec; Holder, J Lloyd; Lesca, Gaetan; Mancardi, Maria M; Poulat, Anne L; Repetto, Gabriela M; Banka, Siddharth; Bilo, Leonilda; Birkeland, Laura E; Bosch, Friedrich; Brockmann, Knut; Cross, J Helen; Doummar, Diane; Félix, Temis M; Giuliano, Fabienne; Hori, Mutsuki; Hüning, Irina; Kayserili, Hulia; Kini, Usha; Lees, Melissa M; Meenakshi, Girish; Mewasingh, Leena; Pagnamenta, Alistair T; Peluso, Silvio; Mey, Antje; Rice, Gregory M; Rosenfeld, Jill A; Taylor, Jenny C; Troester, Matthew M; Stanley, Christine M; Ville, Dorothee; Walkiewicz, Magdalena; Falace, Antonio; Fassio, Anna; Lemke, Johannes R; Biskup, Saskia; Tardif, Jessica; Ajeawung, Norbert F; Tolun, Aslihan; Corbett, Mark; Gecz, Jozef; Afawi, Zaid; Howell, Katherine B.

Neurology ; 87(1): 77-85, 2016 07 05.

Artigo em Inglês | MEDLINE | ID: mdl-27281533

19.

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

Dimmock, David; Trapane, Pamela; Feigenbaum, Annette; Keegan, Catherine E; Cederbaum, Stephen; Gibson, James; Gambello, Michael J; Vaux, Keith; Ward, Patricia; Rice, Gregory M; Wolff, Jon A; O'Brien, William E; Fang, Ping.

Hum Genet ; 126(2): 341, 2009 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-19694025

20.

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

Dimmock, David; Trapane, Pamela; Feigenbaum, Annette; Keegan, Catherine E; Cederbaum, Stephen; Gibson, James; Gambello, Michael J; Vaux, Keith; Ward, Patricia; Rice, Gregory M; Wolff, Jon A; O'Brien, William E; Fang, Ping.

Hum Genet ; 126(2): 342, 2009 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-19694026

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Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.

Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy.

Volatile anesthesia for a pediatric patient with very long-chain acyl-coenzyme A dehydrogenase deficiency: A case report.

Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree.

Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome.

Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency.

Inborn Errors of Metabolism (Metabolic Disorders).

Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial.

Phenotype of FOXP2 haploinsufficiency in a mother and son.

Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy.

A case of congenitally absent left internal carotid artery: vascular malformations in 22q11.2 deletion syndrome.

Familial segregation of a 5q15-q21.2 deletion associated with facial dysmorphism and speech delay.

Newborn Screening for Inherited Metabolic Disorders: Early Identification and Long-Term Care for Patients in the Plain Community, Wisconsin, 2011-2017.

The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia.

Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community.

Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial.

Clinical relevance of the discrepancy in phenylalanine concentrations analyzed using tandem mass spectrometry compared with ion-exchange chromatography in phenylketonuria.

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.