Search Results - "Hirsch, Yoel"

Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia by Boyden, Lynn M., Atzmony, Lihi, Hamilton, Claire, Zhou, Jing, Lim, Young H., Hu, Ronghua, Pappas, John, Rabin, Rachel, Ekstien, Joseph, Hirsch, Yoel, Prendiville, Julie, Lifton, Richard P., Ferguson, Shawn, Choate, Keith A.

“…We describe unrelated individuals with ichthyosis, failure to thrive, thrombocytopenia, photophobia, and progressive hearing loss. Each have bi-allelic…”
Get full text

Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss by Hirsch, Yoel, Chung, Wendy K, Novoselov, Sergey, Weimer, Louis H, Rossor, Alexander, LeDuc, Charles A, McPartland, Amanda J, Cabrera, Ernesto, Ekstein, Josef, Scher, Sholem, Nelson, Rick F, Schiavo, Giampietro, Henderson, Lindsay B, Booth, Kevin T A

“…Hearing loss and peripheral neuropathy are two clinical entities that are genetically and phenotypically heterogeneous and sometimes co-occurring. Using exome…”
Get full text

Identification of Novel and Recurrent Variants in MYO15A in Ashkenazi Jewish Patients With Autosomal Recessive Nonsyndromic Hearing Loss by Booth, Kevin T, Hirsch, Yoel, Vardaro, Anna C, Ekstein, Josef, Yefet, Devorah, Quint, Adina, Weiden, Tzvi, Corey, David P

“…Hearing loss is a genetically and phenotypically heterogeneous disorder. The purpose of this study was to determine the genetic cause underlying hearing loss…”
Get full text

Vici syndrome in Israel: Clinical and molecular insights by Chorin, Odelia, Hirsch, Yoel, Rock, Rachel, Salzer Sheelo, Liat, Goldberg, Yael, Mandel, Hanna, Hershkovitz, Tova, Fleischer, Nicole, Greenbaum, Lior, Katz, Uriel, Barel, Ortal, Hamed, Nasrin, Ben-Zeev, Bruria, Greenberger, Shoshana, Nasser Samra, Nadra, Stern Zimmer, Michal, Raas-Rothschild, Annick, Pode-Shakked, Ben

“…Introduction: Vici Syndrome is a rare, severe, neurodevelopmental/neurodegenerative disorder with multi-systemic manifestations presenting in infancy. It is…”
Get full text

Multidimensional analysis and therapeutic development using patient iPSC-derived disease models of Wolfram syndrome by Kitamura, Rie Asada, Maxwell, Kristina G, Ye, Wenjuan, Kries, Kelly, Brown, Cris M, Augsornworawat, Punn, Hirsch, Yoel, Johansson, Martin M, Weiden, Tzvi, Ekstein, Joseph, Cohen, Joshua, Klee, Justin, Leslie, Kent, Simeonov, Anton, Henderson, Mark J, Millman, Jeffrey R, Urano, Fumihiko

“…Wolfram syndrome is a rare genetic disorder largely caused by pathogenic variants in the WFS1 gene and manifested by diabetes mellitus, optic nerve atrophy,…”
Get full text

Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts by Zeevi, David A., Chung, Wendy K., Levi, Chaim, Scher, Sholem Y., Bringer, Rachel, Kahan, Yael, Muallem, Hagit, Benel, Rinat, Hirsch, Yoel, Weiden, Tzvi, Ekstein, Ahron, Ekstein, Josef

“…Background There is a paucity of information available regarding the carrier frequency for autosomal recessive pathogenic variants among Syrian Jews. This…”
Get full text

A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews by Hirsch, Yoel, Zeevi, David A., Lam, Byron L., Scher, Sholem Y., Bringer, Rachel, Cherki, Bitya, Cohen, Cadina C., Muallem, Hagit, Chiang, John (Pei-Wen), Pantrangi, Madhulatha, Ekstein, Josef, Johansson, Martin M.

“…Congenital stationary night blindness (CSNB) is a disease affecting the night vision of individuals. Previous studies identified TRPM1 as a gene involved in…”
Get full text

eP206: Novel variant in ARSA associated with late infantile metachromatic leukodystrophy and heterozygote rate in individuals of Ashkenazi Jewish ancestry by Pappas, John, Rabin, Rachel, Mistry, Pramod, Hirsch, Yoel, Yachelevich, Naomi

Get full text

eP220: Expanding the phenotypic spectrum of COLEC10-related 3MC syndrome: A glimpse into COLEC10-related 3MC syndrome in the Ashkenazi Jewish population by Rabin, Rachel, Hirsch, Yoel, Chung, Wendy, Ekstein, Josef, Booth, Kevin, Pappas, John

Get full text

Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population by Rabin, Rachel, Hirsch, Yoel, Johansson, Martin M., Ekstein, Joseph, Ekstein, Ahron, Pappas, John

“…THG1L‐associated autosomal recessive ataxia belongs to a group of disorders that occur due to abnormal mitochondrial tRNA modification. The product of THG1L is…”
Get full text

ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry by Rabin, Rachel, Hirsch, Yoel, Booth, Kevin T A, Hall, Patricia L, Yachelevich, Naomi, Mistry, Pramod K, Ekstein, Josef, Pappas, John

“…Metachromatic leukodystrophy (MLD) is a rare neurodegenerative lysosomal storage disease resulting from bi-allelic pathogenic variants in the ARSA gene. MLD is…”
Get full text

Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews by Birnbaum, Rivka, Ezer, Shlomit, Lotan, Nava Shaul, Eilat, Avital, Sternlicht, Keren, Benyamini, Lilach, Reish, Orit, Falik-Zaccai, Tzipora, Ben-Gad, Gali, Rod, Raya, Segel, Reeval, Kim, Katherine, Burton, Barabra, Keegan, Catherine E, Wagner, Mallory, Henderson, Lindsay B, Mor, Nofar, Barel, Ortal, Hirsch, Yoel, Meiner, Vardiella, Elpeleg, Orly, Harel, Tamar, Mor-Shakad, Hagar

“…Neurodevelopmental disorders (NDDs) impact both the development and functioning of the brain and exhibit clinical and genetic variability. RAP and RAB…”
Get more information

Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality by Machado, Rajiv D, Welch, Carrie L, Haimel, Matthias, Bleda, Marta, Colglazier, Elizabeth, Coulson, John D, Debeljak, Marusa, Ekstein, Josef, Fineman, Jeffrey R, Golden, William Christopher, Griffin, Emily L, Hadinnapola, Charaka, Harris, Michael A, Hirsch, Yoel, Hoover-Fong, Julie Elizabeth, Nogee, Lawrence, Romer, Lewis H, Vesel, Samo, Gräf, Stefan, Morrell, Nicholas W, Southgate, Laura, Chung, Wendy K

“…The molecular genetic basis of pulmonary arterial hypertension (PAH) is heterogeneous, with at least 26 genes displaying putative evidence for disease…”
Get more information

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis by Barca, Emanuele, Ganetzky, Rebecca D, Potluri, Prasanth, Juanola-Falgarona, Marti, Gai, Xiaowu, Li, Dong, Jalas, Chaim, Hirsch, Yoel, Emmanuele, Valentina, Tadesse, Saba, Ziosi, Marcello, Akman, Hasan O, Chung, Wendy K, Tanji, Kurenai, McCormick, Elizabeth M, Place, Emily, Consugar, Mark, Pierce, Eric A, Hakonarson, Hakon, Wallace, Douglas C, Hirano, Michio, Falk, Marni J

“…Abstract Leigh syndrome is a frequent, heterogeneous pediatric presentation of mitochondrial oxidative phosphorylation (OXPHOS) disease, manifesting with…”
Get full text

Biallelic Loss-of-Function Variants in IBICD1/I Are Associated with Peripheral Neuropathy and Hearing Loss by Hirsch, Yoel, Chung, Wendy K, Novoselov, Sergey, Weimer, Louis H, Rossor, Alexander, LeDuc, Charles A, McPartland, Amanda J, Cabrera, Ernesto, Ekstein, Josef, Scher, Sholem, Nelson, Rick F, Schiavo, Giampietro, Henderson, Lindsay B, Booth, Kevin T. A

“…Hearing loss and peripheral neuropathy are two clinical entities that are genetically and phenotypically heterogeneous and sometimes co-occurring. Using exome…”
Get full text

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel by Shen, Jun, Oza, Andrea M., del Castillo, Ignacio, Duzkale, Hatice, Matsunaga, Tatsuo, Pandya, Arti, Kang, Hyunseok P., Mar-Heyming, Rebecca, Guha, Saurav, Moyer, Krista, Lo, Christine, Kenna, Margaret, Alexander, John J., Zhang, Yan, Hirsch, Yoel, Luo, Minjie, Cao, Ye, Wai Choy, Kwong, Cheng, Yen-Fu, Avraham, Karen B., Hu, Xinhua, Garrido, Gema, Moreno-Pelayo, Miguel A., Greinwald, John, Zhang, Kejian, Zeng, Yukun, Brownstein, Zippora, Basel-Salmon, Lina, Davidov, Bella, Frydman, Moshe, Weiden, Tzvi, Nagan, Narasimhan, Willis, Alecia, Hemphill, Sarah E., Grant, Andrew R., Siegert, Rebecca K., DiStefano, Marina T., Amr, Sami S., Rehm, Heidi L., Abou Tayoun, Ahmad N.

“…Purpose Pathogenic variants in GJB2 are the most common cause of autosomal recessive sensorineural hearing loss. The classification of c.101T>C/p.Met34Thr and…”
Get full text

Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases by Rabin, Rachel, Hirsch, Yoel, Johansson, Martin M., Ekstein, Joseph, Zeevi, David A., Keena, Beth, Zackai, Elaine H., Pappas, John

“…Warsaw breakage syndrome (WABS), caused by bi‐allelic variants in the DDX11 gene, is a rare cohesinopathy characterized by pre‐ and postnatal growth…”
Get full text

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities by Muir, Alison M., Cohen, Jennifer L., Sheppard, Sarah E., Guttipatti, Pavithran, Lo, Tsz Y., Weed, Natalie, Doherty, Dan, DeMarzo, Danielle, Fagerberg, Christina R., Kjærsgaard, Lars, Larsen, Martin J., Rump, Patrick, Löhner, Katharina, Hirsch, Yoel, Zeevi, David A., Zackai, Elaine H., Bhoj, Elizabeth, Song, Yuanquan, Mefford, Heather C.

“…Nucleoporins (NUPs) are an essential component of the nuclear-pore complex, which regulates nucleocytoplasmic transport of macromolecules. Pathogenic variants…”
Get full text

Bi‐allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families by Daum, Hagit, Ganapathi, Mythily, Hirsch, Yoel, Griffin, Emily L., LeDuc, Charles A., Hagen, Jacob, Yagel, Simcha, Meiner, Vardiella, Chung, Wendy K., Mor‐Shaked, Hagar

“…Exome and genome sequencing were used to identify the genetic etiology of a severe neurodevelopmental disorder in two unrelated Ashkenazi Jewish families with…”
Get full text

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss by Richard, Elodie M., Bakhtiari, Somayeh, Marsh, Ashley P.L., Kaiyrzhanov, Rauan, Wagner, Matias, Shetty, Sheetal, Pagnozzi, Alex, Nordlie, Sandra M., Cornejo, Patricia, Magee, Helen, Liu, James, Norton, Bethany Y., Webster, Richard I., Hakonarson, Hakon, Li, Jiankang, Guo, Yiran, Jain, Mahim, Blesson, Alyssa, Rodan, Lance H., Abbott, Mary-Alice, Comi, Anne, Cohen, Julie S., Alhaddad, Bader, Meitinger, Thomas, Lenz, Dominic, Ziegler, Andreas, Kotzaeridou, Urania, Brunet, Theresa, Chassevent, Anna, Smith-Hicks, Constance, Ekstein, Joseph, Weiden, Tzvi, Hahn, Andreas, Zharkinbekova, Nazira, Turnpenny, Peter, Tucci, Arianna, Yelton, Melissa, Horvath, Rita, Gungor, Serdal, Hiz, Semra, Oktay, Yavuz, Lochmuller, Hanns, Zollino, Marcella, Morleo, Manuela, Marangi, Giuseppe, Nigro, Vincenzo, Torella, Annalaura, Pinelli, Michele, Amenta, Simona, Husain, Ralf A., Grossmann, Benita, Rapp, Marion, Steen, Claudia, Marquardt, Iris, Grimmel, Mona, Grasshoff, Ute, Korenke, G. Christoph, Owczarek-Lipska, Marta, Neidhardt, John, Radio, Francesca Clementina, Mancini, Cecilia, Claps Sepulveda, Dianela Judith, McWalter, Kirsty, Begtrup, Amber, Crunk, Amy, Guillen Sacoto, Maria J., Schnur, Rhonda E., Mancardi, Maria Margherita, Kreuder, Florian, Striano, Pasquale, Zara, Federico, Chung, Wendy K., Marks, Warren A., van Eyk, Clare L., Webber, Dani L., Corbett, Mark A., Harper, Kelly, Berry, Jesia G., MacLennan, Alastair H., Gecz, Jozef, Tartaglia, Marco, Salpietro, Vincenzo, Christodoulou, John, Kaslin, Jan, Padilla-Lopez, Sergio, Bilguvar, Kaya, Munchau, Alexander, Ahmed, Zubair M., Hufnagel, Robert B., Fahey, Michael C., Maroofian, Reza, Houlden, Henry, Mane, Shrikant M., Rad, Aboulfazl, Jin, Sheng Chih, Haack, Tobias B., Makowski, Christine, Hirsch, Yoel, Riazuddin, Saima, Kruer, Michael C.

“…Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1…”
Get full text