Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review

por Elfert, Khaled A., Geller, David S., Nelson-Williams, Carol, Lifton, Richard P., Al-Malki, Hassan, Nauman, Awais
Publicado 2020

Abstract 82: De novo Mutation Burden Reveals Novel Molecular Subtypes of Non-syndromic Craniosynostosis

por Timberlake, Andrew T., Furey, Charuta G., Choi, Jungmin, Nelson-Williams, Carol, Steinbacher, Derek M., Larysz, Dawid, Persing, John A., Lifton, Richard P.
Publicado 2018

9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus

por Furey, Charuta, Antwi, Prince, Duran, Daniel, Timberlake, Andrew T., Nelson-Williams, Carol, Matouk, Charles C., DiLuna, Michael L., Günel, Murat, Kahle, Kristopher T.
Publicado 2018

Recessive Mutations in KIF12 Cause High Gamma‐Glutamyltransferase Cholestasis

por Ünlüsoy Aksu, Aysel, Das, Subhash K., Nelson‐Williams, Carol, Jain, Dhanpat, Özbay Hoşnut, Ferda, Evirgen Şahin, Gülseren, Lifton, Richard P., Vilarinho, Silvia
Publicado 2019

An Incompletely Penetrant Novel Mutation in COL7A1 Causes Epidermolysis Bullosa Pruriginosa and Dominant Dystrophic Epidermolysis Bullosa Phenotypes in an Extended Kindred

por Yang, Catherine S, Lu, Yin, Farhi, Anita, Nelson-Williams, Carol, Kashgarian, Michael, Glusac, Earl J, Lifton, Richard P, Antaya, Richard J, Choate, Keith A
Publicado 2012

Abstract QS43: Blepharophimosis Ptosis Epicanthus Inversus Syndrome Caused by a ZC3H13 Gene Mutation

por Balkin, Daniel M., Nelson-Williams, Carol, Sumpio, Brandon J., Scott, Daryl A., Pabic, Pierre Le, Schilling, Thomas F., Lifton, Richard P., Narayan, Deepak
Publicado 2018

Co-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis

por Timberlake, Andrew T., Wu, Robin, Nelson-Williams, Carol, Furey, Charuta G., Hildebrand, Kristi I., Elton, Scott W., Wood, Jeyhan S., Persing, John A., Lifton, Richard P.
Publicado 2018

SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus

por Jin, Sheng Chih, Furey, Charuta G., Zeng, Xue, Allocco, August, Nelson‐Williams, Carol, Dong, Weilai, Karimy, Jason K., Wang, Kevin, Ma, Shaojie, Delpire, Eric, Kahle, Kristopher T.
Publicado 2019

A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family

por Gauhar, Zeeshan, Tejwani, Leon, Abdullah, Uzma, Saeed, Sadia, Shafique, Shagufta, Badshah, Mazhar, Choi, Jungmin, Dong, Weilai, Nelson-Williams, Carol, Lifton, Richard P., Lim, Janghoo, Raja, Ghazala K.
Publicado 2022

Shifting patterns of genomic variation in the somatic evolution of papillary thyroid carcinoma

por Rubinstein, Jill C., Brown, Taylor C., Christison-Lagay, Emily R., Zhang, Yawei, Kunstman, John W., Juhlin, C. Christofer, Nelson-Williams, Carol, Goh, Gerald, Quinn, Courtney E., Callender, Glenda G., Udelsman, Robert, Lifton, Richard P., Korah, Reju, Carling, Tobias
Publicado 2016

Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3

por Allocco, August A., Jin, Sheng Chih, Duy, Phan Q., Furey, Charuta G., Zeng, Xue, Dong, Weilai, Nelson-Williams, Carol, Karimy, Jason K., DeSpenza, Tyrone, Hao, Le T., Reeves, Benjamin, Haider, Shozeb, Gunel, Murat, Lifton, Richard P., Kahle, Kristopher T.
Publicado 2019

Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation

por Romberg, Neil, Al Moussawi, Khatoun, Nelson-Williams, Carol, Stiegler, Amy L, Loring, Erin, Choi, Murim, Overton, John, Meffre, Eric, Khokha, Mustafa K, Huttner, Anita J, West, Brian, Podoltsev, Nikolai A, Boggon, Titus J, Kazmierczak, Barbara I, Lifton, Richard P
Publicado 2014

Digenic mutations of human OCRL paralogs in Dent’s disease type 2 associated with Chiari I malformation

por Duran, Daniel, Jin, Sheng Chih, DeSpenza, Tyrone, Nelson-Williams, Carol, Cogal, Andrea G, Abrash, Elizabeth W, Harris, Peter C, Lieske, John C, Shimshak, Serena JE, Mane, Shrikant, Bilguvar, Kaya, DiLuna, Michael L, Günel, Murat, Lifton, Richard P, Kahle, Kristopher T
Publicado 2016

Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors

por Goh, Gerald, Scholl, Ute I., Healy, James M., Choi, Murim, Prasad, Manju L., Nelson-Williams, Carol, Kuntsman, John W., Korah, Reju, Suttorp, Anna-Carinna, Dietrich, Dimo, Haase, Matthias, Willenberg, Holger S., Stålberg, Peter, Hellman, Per, Åkerström, Göran, Björklund, Peyman, Carling, Tobias, Lifton, Richard P.
Publicado 2014

Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis

por Timberlake, Andrew T., Jin, Sheng Chih, Nelson-Williams, Carol, Wu, Robin, Furey, Charuta G., Islam, Barira, Haider, Shozeb, Loring, Erin, Galm, Amy, Steinbacher, Derek M., Larysz, Dawid, Staffenberg, David A., Flores, Roberto L., Rodriguez, Eduardo D., Boggon, Titus J., Persing, John A., Lifton, Richard P.
Publicado 2019

Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation

por Ververis, Antonis, Dajani, Rana, Koutsou, Pantelitsa, Aloqaily, Ahmad, Nelson-Williams, Carol, Loring, Erin, Arafat, Ala, Mubaidin, Ammar Fayez, Horany, Khalid, Bader, Mai B, Al-Baho, Yaqoub, Ali, Bushra, Muhtaseb, Abdurrahman, DeSpenza Jr, Tyrone, Al-Qudah, Abdelkarim A, Middleton, Lefkos T, Zamba-Papanicolaou, Eleni, Lifton, Richard, Christodoulou, Kyproula
Publicado 2020

Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism

por Scholl, Ute I, Stölting, Gabriel, Nelson-Williams, Carol, Vichot, Alfred A, Choi, Murim, Loring, Erin, Prasad, Manju L, Goh, Gerald, Carling, Tobias, Juhlin, C Christofer, Quack, Ivo, Rump, Lars C, Thiel, Anne, Lande, Marc, Frazier, Britney G, Rasoulpour, Majid, Bowlin, David L, Sethna, Christine B, Trachtman, Howard, Fahlke, Christoph, Lifton, Richard P
Publicado 2015

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

por Timberlake, Andrew T, Choi, Jungmin, Zaidi, Samir, Lu, Qiongshi, Nelson-Williams, Carol, Brooks, Eric D, Bilguvar, Kaya, Tikhonova, Irina, Mane, Shrikant, Yang, Jenny F, Sawh-Martinez, Rajendra, Persing, Sarah, Zellner, Elizabeth G, Loring, Erin, Chuang, Carolyn, Galm, Amy, Hashim, Peter W, Steinbacher, Derek M, DiLuna, Michael L, Duncan, Charles C, Pelphrey, Kevin A, Zhao, Hongyu, Persing, John A, Lifton, Richard P
Publicado 2016

Abstract 24: Two Locus Inheritance of Non-Syndromic Midline Craniosynostosis Via Rare SMAD6 and Common BMP2 Alleles

por Timberlake, Andrew T., Choi, Jungmin, Zaidi, Samir, Lu, Qiongshi, Nelson-Williams, Carol, Brooks, Eric D., Bilguvar, Kaya, Tikhonova, Irina, Mane, Shrikant, Yang, Jenny F., Sawh-Martinez, Rajendra, Persing, Sarah, Zellner, Elizabeth G., Loring, Erin, Chuang, Carolyn, Galm, Amy, Hashim, Peter W., Steinbacher, Derek, DiLuna, Michael L., Duncan, Charles C., Pelphrey, Kevin A., Zhao, Hongyu, Persing, John A., Lifton, Richard P.
Publicado 2017

Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism

por Scholl, Ute I., Goh, Gerald, Stölting, Gabriel, de Oliveira, Regina Campos, Choi, Murim, Overton, John D., Fonseca, Annabelle L., Korah, Reju, Starker, Lee F., Kunstman, John W., Prasad, Manju L., Hartung, Erum A., Mauras, Nelly, Benson, Matthew R., Brady, Tammy, Shapiro, Jay R., Loring, Erin, Nelson-Williams, Carol, Libutti, Steven K., Mane, Shrikant, Hellman, Per, Westin, Gunnar, Åkerström, Göran, Björklund, Peyman, Carling, Tobias, Fahlke, Christoph, Hidalgo, Patricia, Lifton, Richard P.
Publicado 2013