Advances in the Understanding of the Genetic Causes of Hearing Loss in Children Inform a Rational Approach to Evaluation von Carey, John C., Palumbos, Janice C.

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Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A Diagnostic Odyssey von Paulraj, Prabakaran, Palumbos, Janice C., Openshaw, Amanda, Carey, John C., Toydemir, Reha M.

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Variable expressivity and incomplete penetrance in a large family with non‐classical Diamond‐Blackfan anemia associated with ribosomal protein L11 splicing variant von Carlston, Colleen M., Afify, Zeinab A., Palumbos, Janice C., Bagley, Heidi, Barbagelata, Carlos, Wooderchak‐Donahue, Whitney L., Mao, Rong, Carey, John C.

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Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss von DeMille, Desiree, Carlston, Colleen M., Tam, Oliver H., Palumbos, Janice C., Stalker, Heather J., Mao, Rong, Zori, Roberto T., Viskochil, David H., Park, Albert H., Carey, John C.

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Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q von Gunn, Shelly R., Mohammed, Mansoor, Reveles, Xavier T., Viskochil, David H., Palumbos, Janice C., Johnson‐Pais, Teresa L., Hale, Daniel E., Lancaster, Jack L., Hardies, L. Jean, Boespflug‐Tanguy, Odile, Cody, Jannine D., Leach, Robin J.

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Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A Diagnostic Odyssey von Paulraj, Prabakaran, Palumbos, Janice C, Openshaw, Amanda, Carey, John C, Toydemir, Reha M

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Delineation of the male phenotype in craniofrontonasal syndrome von Morris, Colleen A., Palumbos, Janice C., Carey, John C., Opitz, John M., Reynolds, James F.

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Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: Does abnormal cholesterol metabolism affect the function ofsonic hedgehog? von Kelley, Richard I., Roessler, Erich, Hennekam, Raoul C. M., Feldman, Gerald L., Kosaki, Kenjiro, Jones, Marilyn C., Palumbos, Janice C., Muenke, Maximilian

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Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: Does abnormal cholesterol metabolism affect the function of sonic hedgehog? von Kelley, Richard I., Roessler, Erich, Hennekam, Raoul C. M., Feldman, Gerald L., Kosaki, Kenjiro, Jones, Marilyn C., Palumbos, Janice C., Muenke, Maximilian

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Pure trisomy 10p resulting from an extra ring chromosome: Characterization by methods of advanced molecular cytogenetics von Chen, Zhong, Meloni-Ehrig, Aurelia, Palumbos, Janice C., Guan, Xin-Yuan, Carroll, Kristen L., Dent, Karin M., Carey, John C.

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Pure trisomy lop resulting from an extra ring chromosome: Characterization by methods of advanced molecular cytogenetics von ZHONG CHEN, MELONI-EHRIG, Aurelia, PALUMBOS, Janice C, GUAN, Xin-Yuan, CARROLL, Kristen L, DENT, Karin M, CAREY, John C

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Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q von Gunn, Shelly R., Mohammed, Mansoor, Reveles, Xavier T., Viskochil, David H., Palumbos, Janice C., Johnson-Pais, Teresa L., Hale, Daniel E., Lancaster, Jack L., Hardies, L. Jean, Boespflug-Tanguy, Odile, Cody, Jannine D., Leach, Robin J.

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Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay von Tidwell, Timothy, Deshotel, Malia, Palumbos, Janice, Miller, Chris, Bayrak-Toydemir, Pinar, Carey, John C

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Clinical Characteristics and Natural History of Freeman-Sheldon Syndrome von Stevenson, David A, Carey, John C, Palumbos, Janice, Rutherford, Ann, Dolcourt, Joyce, Bamshad, Michael J

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